Incidental Mutation 'R0270:Ktn1'
ID |
35256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ktn1
|
Ensembl Gene |
ENSMUSG00000021843 |
Gene Name |
kinectin 1 |
Synonyms |
|
MMRRC Submission |
038496-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0270 (G1)
|
Quality Score |
87 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
47886551-47974021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 47952119 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 963
(D963E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022391]
[ENSMUST00000185343]
[ENSMUST00000185940]
[ENSMUST00000186627]
[ENSMUST00000186761]
[ENSMUST00000190252]
[ENSMUST00000189533]
[ENSMUST00000189101]
[ENSMUST00000190535]
[ENSMUST00000187262]
[ENSMUST00000187039]
[ENSMUST00000187839]
[ENSMUST00000188330]
[ENSMUST00000188553]
[ENSMUST00000190182]
[ENSMUST00000189986]
[ENSMUST00000191446]
[ENSMUST00000190999]
[ENSMUST00000191511]
[ENSMUST00000191018]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022391
AA Change: D986E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000022391 Gene: ENSMUSG00000021843 AA Change: D986E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
coiled coil region
|
1089 |
1267 |
N/A |
INTRINSIC |
coiled coil region
|
1302 |
1326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185343
AA Change: D963E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140186 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
coiled coil region
|
1066 |
1192 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185940
AA Change: D963E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139625 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1163 |
N/A |
INTRINSIC |
coiled coil region
|
1198 |
1222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186627
AA Change: D963E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140873 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1191 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186700
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186761
AA Change: D986E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139521 Gene: ENSMUSG00000021843 AA Change: D986E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
1016 |
N/A |
INTRINSIC |
coiled coil region
|
1060 |
1210 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190252
AA Change: D986E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140011 Gene: ENSMUSG00000021843 AA Change: D986E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
1016 |
N/A |
INTRINSIC |
coiled coil region
|
1060 |
1210 |
N/A |
INTRINSIC |
coiled coil region
|
1245 |
1269 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189533
AA Change: D963E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140142 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1187 |
N/A |
INTRINSIC |
coiled coil region
|
1222 |
1246 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189101
AA Change: D963E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140178 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1163 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190535
AA Change: D963E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139952 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
coiled coil region
|
1066 |
1244 |
N/A |
INTRINSIC |
coiled coil region
|
1279 |
1303 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187262
AA Change: D986E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140206 Gene: ENSMUSG00000021843 AA Change: D986E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
coiled coil region
|
1089 |
1215 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187039
AA Change: D963E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140202 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1163 |
N/A |
INTRINSIC |
coiled coil region
|
1198 |
1222 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000187839
AA Change: D986E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140324 Gene: ENSMUSG00000021843 AA Change: D986E
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
coiled coil region
|
1089 |
1267 |
N/A |
INTRINSIC |
coiled coil region
|
1302 |
1326 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188330
AA Change: D963E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140845 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1187 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188553
AA Change: D963E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140865 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
coiled coil region
|
1066 |
1216 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190182
AA Change: D986E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140301 Gene: ENSMUSG00000021843 AA Change: D986E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
1016 |
N/A |
INTRINSIC |
coiled coil region
|
1060 |
1238 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188049
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189986
|
SMART Domains |
Protein: ENSMUSP00000139970 Gene: ENSMUSG00000021843
Domain | Start | End | E-Value | Type |
Pfam:Rib_recp_KP_reg
|
29 |
172 |
2.1e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191446
AA Change: D986E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140748 Gene: ENSMUSG00000021843 AA Change: D986E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
1028 |
N/A |
INTRINSIC |
coiled coil region
|
1089 |
1215 |
N/A |
INTRINSIC |
coiled coil region
|
1250 |
1274 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190999
AA Change: D963E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139673 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
993 |
N/A |
INTRINSIC |
coiled coil region
|
1037 |
1215 |
N/A |
INTRINSIC |
coiled coil region
|
1250 |
1274 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191511
AA Change: D963E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000139946 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
coiled coil region
|
1066 |
1192 |
N/A |
INTRINSIC |
coiled coil region
|
1227 |
1251 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191018
AA Change: D963E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000139585 Gene: ENSMUSG00000021843 AA Change: D963E
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
39 |
N/A |
INTRINSIC |
coiled coil region
|
40 |
66 |
N/A |
INTRINSIC |
low complexity region
|
108 |
127 |
N/A |
INTRINSIC |
low complexity region
|
150 |
173 |
N/A |
INTRINSIC |
low complexity region
|
203 |
221 |
N/A |
INTRINSIC |
coiled coil region
|
329 |
372 |
N/A |
INTRINSIC |
coiled coil region
|
402 |
727 |
N/A |
INTRINSIC |
coiled coil region
|
764 |
792 |
N/A |
INTRINSIC |
low complexity region
|
816 |
825 |
N/A |
INTRINSIC |
coiled coil region
|
836 |
1005 |
N/A |
INTRINSIC |
coiled coil region
|
1066 |
1220 |
N/A |
INTRINSIC |
coiled coil region
|
1255 |
1279 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.7%
- 10x: 96.0%
- 20x: 93.2%
|
Validation Efficiency |
99% (113/114) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted null mutation or a floxed allele exhibit no discernable phenotype; mice are viable and fertile up to one year of age. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 109 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110009E18Rik |
T |
A |
1: 120,093,906 (GRCm39) |
|
probably benign |
Het |
Aadacl2fm3 |
T |
A |
3: 59,784,440 (GRCm39) |
N304K |
probably benign |
Het |
Abcf3 |
T |
A |
16: 20,378,918 (GRCm39) |
|
probably null |
Het |
Acadm |
C |
T |
3: 153,641,961 (GRCm39) |
M190I |
possibly damaging |
Het |
Adamtsl3 |
G |
A |
7: 82,206,032 (GRCm39) |
R739Q |
probably damaging |
Het |
Ank1 |
T |
A |
8: 23,578,941 (GRCm39) |
|
probably benign |
Het |
Ap3b1 |
T |
A |
13: 94,540,626 (GRCm39) |
|
probably benign |
Het |
Arhgdib |
A |
G |
6: 136,903,732 (GRCm39) |
V31A |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,119,406 (GRCm39) |
R342G |
probably damaging |
Het |
Asic3 |
C |
T |
5: 24,622,700 (GRCm39) |
L517F |
probably benign |
Het |
Atxn7l1 |
C |
T |
12: 33,392,150 (GRCm39) |
P242L |
possibly damaging |
Het |
AY761185 |
T |
A |
8: 21,434,616 (GRCm39) |
E37D |
possibly damaging |
Het |
Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
Batf |
A |
T |
12: 85,755,446 (GRCm39) |
T100S |
probably benign |
Het |
Blcap |
A |
T |
2: 157,399,897 (GRCm39) |
Y59* |
probably null |
Het |
Cacnb3 |
G |
A |
15: 98,540,440 (GRCm39) |
A350T |
probably damaging |
Het |
Cdk15 |
T |
A |
1: 59,349,965 (GRCm39) |
V319D |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,382,911 (GRCm39) |
H2661R |
probably benign |
Het |
Cenpq |
T |
C |
17: 41,240,941 (GRCm39) |
E106G |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,785,642 (GRCm39) |
|
probably benign |
Het |
Cfb |
G |
A |
17: 35,079,362 (GRCm39) |
S778L |
possibly damaging |
Het |
Clec2m |
A |
T |
6: 129,302,571 (GRCm39) |
L152* |
probably null |
Het |
Clspn |
T |
A |
4: 126,467,029 (GRCm39) |
N631K |
probably damaging |
Het |
Cntn2 |
T |
A |
1: 132,449,462 (GRCm39) |
T660S |
probably damaging |
Het |
Cntrob |
T |
A |
11: 69,202,167 (GRCm39) |
H475L |
possibly damaging |
Het |
Ddx46 |
T |
C |
13: 55,821,917 (GRCm39) |
I863T |
probably benign |
Het |
Dnah11 |
G |
A |
12: 118,004,748 (GRCm39) |
T2191I |
probably damaging |
Het |
Dock9 |
T |
C |
14: 121,813,411 (GRCm39) |
T1703A |
probably benign |
Het |
Fam13c |
C |
T |
10: 70,380,343 (GRCm39) |
P424S |
probably benign |
Het |
Fan1 |
T |
C |
7: 63,998,619 (GRCm39) |
N968D |
probably benign |
Het |
Fbxl20 |
A |
T |
11: 97,989,329 (GRCm39) |
|
probably benign |
Het |
Fkbp1b |
A |
T |
12: 4,888,229 (GRCm39) |
|
probably benign |
Het |
G930045G22Rik |
T |
A |
6: 50,824,039 (GRCm39) |
|
noncoding transcript |
Het |
Gm28042 |
C |
A |
2: 119,872,073 (GRCm39) |
R1008S |
probably benign |
Het |
Gon4l |
G |
A |
3: 88,765,707 (GRCm39) |
S376N |
probably damaging |
Het |
Gstt3 |
C |
A |
10: 75,616,749 (GRCm39) |
R15L |
probably damaging |
Het |
Gtdc1 |
A |
T |
2: 44,642,186 (GRCm39) |
S73T |
possibly damaging |
Het |
Hhatl |
A |
G |
9: 121,613,786 (GRCm39) |
S419P |
probably benign |
Het |
Hirip3 |
T |
G |
7: 126,462,363 (GRCm39) |
S46R |
probably damaging |
Het |
Hsf2 |
A |
G |
10: 57,378,735 (GRCm39) |
T204A |
probably benign |
Het |
Impg2 |
G |
A |
16: 56,089,378 (GRCm39) |
E1108K |
possibly damaging |
Het |
Itgb2l |
G |
T |
16: 96,224,130 (GRCm39) |
|
probably benign |
Het |
Itih5 |
A |
T |
2: 10,256,075 (GRCm39) |
N847I |
probably benign |
Het |
Kif1a |
T |
C |
1: 92,982,164 (GRCm39) |
|
probably benign |
Het |
Klhl1 |
T |
A |
14: 96,755,780 (GRCm39) |
|
probably benign |
Het |
Lclat1 |
T |
A |
17: 73,547,022 (GRCm39) |
V313E |
probably benign |
Het |
Lrrn4 |
T |
C |
2: 132,712,639 (GRCm39) |
S395G |
probably benign |
Het |
Macroh2a1 |
G |
A |
13: 56,243,927 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
G |
A |
8: 120,264,856 (GRCm39) |
|
probably benign |
Het |
Me1 |
A |
G |
9: 86,478,257 (GRCm39) |
|
probably benign |
Het |
Mov10 |
C |
A |
3: 104,702,721 (GRCm39) |
C948F |
probably benign |
Het |
Mterf1a |
G |
A |
5: 3,940,990 (GRCm39) |
Q293* |
probably null |
Het |
Nfkb2 |
A |
T |
19: 46,300,065 (GRCm39) |
M838L |
possibly damaging |
Het |
Nhlrc2 |
T |
A |
19: 56,540,302 (GRCm39) |
L97Q |
probably damaging |
Het |
Nr6a1 |
A |
T |
2: 38,629,032 (GRCm39) |
Y331N |
possibly damaging |
Het |
Nup214 |
C |
T |
2: 31,924,826 (GRCm39) |
A1785V |
probably damaging |
Het |
Ogg1 |
C |
T |
6: 113,306,217 (GRCm39) |
T138I |
probably benign |
Het |
Or5ac20 |
A |
G |
16: 59,104,116 (GRCm39) |
V248A |
probably damaging |
Het |
Or5b107 |
A |
G |
19: 13,143,251 (GRCm39) |
Y291C |
probably damaging |
Het |
Or5b124 |
A |
G |
19: 13,611,048 (GRCm39) |
Y191C |
probably damaging |
Het |
Or7g17 |
T |
A |
9: 18,768,127 (GRCm39) |
Y60N |
probably damaging |
Het |
Plod2 |
G |
T |
9: 92,466,574 (GRCm39) |
R178L |
probably benign |
Het |
Polr3b |
T |
A |
10: 84,554,339 (GRCm39) |
L1017Q |
probably benign |
Het |
Postn |
C |
A |
3: 54,291,971 (GRCm39) |
T724N |
probably damaging |
Het |
Ppm1l |
T |
G |
3: 69,225,309 (GRCm39) |
|
probably benign |
Het |
Prpf8 |
T |
G |
11: 75,396,075 (GRCm39) |
L1983R |
probably damaging |
Het |
Psma7 |
A |
G |
2: 179,681,193 (GRCm39) |
V59A |
probably benign |
Het |
Qser1 |
T |
A |
2: 104,619,306 (GRCm39) |
Y502F |
probably benign |
Het |
Rad50 |
T |
C |
11: 53,558,852 (GRCm39) |
D1129G |
probably damaging |
Het |
Rasal1 |
C |
A |
5: 120,812,794 (GRCm39) |
P606Q |
probably damaging |
Het |
Rgs6 |
A |
G |
12: 83,180,463 (GRCm39) |
Y438C |
probably damaging |
Het |
Rnf180 |
A |
G |
13: 105,388,774 (GRCm39) |
C73R |
probably benign |
Het |
Rnf216 |
T |
A |
5: 143,065,996 (GRCm39) |
I474F |
possibly damaging |
Het |
Sdha |
A |
T |
13: 74,480,366 (GRCm39) |
L371Q |
probably damaging |
Het |
Sdk1 |
T |
G |
5: 142,070,321 (GRCm39) |
L1162R |
possibly damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,237,146 (GRCm39) |
I223T |
probably damaging |
Het |
Sirpb1a |
A |
G |
3: 15,475,587 (GRCm39) |
V316A |
probably damaging |
Het |
Slc12a4 |
A |
T |
8: 106,672,021 (GRCm39) |
I897N |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,048,035 (GRCm39) |
V243E |
probably damaging |
Het |
Slc4a11 |
T |
A |
2: 130,532,852 (GRCm39) |
K200N |
possibly damaging |
Het |
Slc9a8 |
T |
A |
2: 167,293,216 (GRCm39) |
M188K |
probably damaging |
Het |
Slco1a8 |
T |
A |
6: 141,918,137 (GRCm39) |
I580F |
possibly damaging |
Het |
Snrnp200 |
T |
C |
2: 127,074,902 (GRCm39) |
S1492P |
probably damaging |
Het |
Sphk2 |
T |
C |
7: 45,360,149 (GRCm39) |
*618W |
probably null |
Het |
Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
Tdpoz3 |
A |
G |
3: 93,734,231 (GRCm39) |
N302S |
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,935,199 (GRCm39) |
M1950V |
probably benign |
Het |
Tmem39a |
A |
G |
16: 38,384,675 (GRCm39) |
|
probably benign |
Het |
Trip4 |
A |
T |
9: 65,765,640 (GRCm39) |
I353K |
probably damaging |
Het |
Trip6 |
A |
T |
5: 137,311,103 (GRCm39) |
F204L |
probably benign |
Het |
Trpm4 |
T |
A |
7: 44,968,677 (GRCm39) |
I419F |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,775,140 (GRCm39) |
E1967D |
probably damaging |
Het |
Uba2 |
C |
T |
7: 33,850,281 (GRCm39) |
V391M |
possibly damaging |
Het |
Ubr4 |
T |
G |
4: 139,206,746 (GRCm39) |
|
probably benign |
Het |
Upf1 |
G |
A |
8: 70,788,295 (GRCm39) |
|
probably benign |
Het |
Vmn1r228 |
A |
C |
17: 20,996,858 (GRCm39) |
V220G |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,652,594 (GRCm39) |
M429V |
probably benign |
Het |
Vps36 |
C |
T |
8: 22,700,472 (GRCm39) |
T210I |
possibly damaging |
Het |
Wdr17 |
C |
T |
8: 55,146,131 (GRCm39) |
A90T |
possibly damaging |
Het |
Ybx1 |
C |
T |
4: 119,138,788 (GRCm39) |
G126D |
probably benign |
Het |
Yipf5 |
C |
A |
18: 40,339,460 (GRCm39) |
|
probably benign |
Het |
Zbtb47 |
A |
G |
9: 121,596,641 (GRCm39) |
T666A |
probably benign |
Het |
Zdhhc5 |
A |
C |
2: 84,520,459 (GRCm39) |
S573A |
probably benign |
Het |
Zfp457 |
A |
T |
13: 67,441,991 (GRCm39) |
C99S |
probably damaging |
Het |
Zfp52 |
T |
A |
17: 21,781,564 (GRCm39) |
C471S |
probably damaging |
Het |
Zfp558 |
C |
T |
9: 18,379,252 (GRCm39) |
V71I |
probably damaging |
Het |
Zfp655 |
A |
G |
5: 145,181,267 (GRCm39) |
Y375C |
probably damaging |
Het |
Zfp882 |
A |
T |
8: 72,668,459 (GRCm39) |
T429S |
probably benign |
Het |
Zmym2 |
T |
C |
14: 57,187,141 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ktn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Ktn1
|
APN |
14 |
47,946,335 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01109:Ktn1
|
APN |
14 |
47,952,178 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02300:Ktn1
|
APN |
14 |
47,927,517 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02339:Ktn1
|
APN |
14 |
47,920,835 (GRCm39) |
splice site |
probably benign |
|
IGL02525:Ktn1
|
APN |
14 |
47,962,200 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02565:Ktn1
|
APN |
14 |
47,910,391 (GRCm39) |
splice site |
probably benign |
|
IGL02678:Ktn1
|
APN |
14 |
47,971,610 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL03181:Ktn1
|
APN |
14 |
47,970,741 (GRCm39) |
missense |
probably benign |
0.19 |
IGL03393:Ktn1
|
APN |
14 |
47,928,391 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4520001:Ktn1
|
UTSW |
14 |
47,923,774 (GRCm39) |
missense |
probably damaging |
0.96 |
R0035:Ktn1
|
UTSW |
14 |
47,967,836 (GRCm39) |
missense |
probably benign |
0.07 |
R0035:Ktn1
|
UTSW |
14 |
47,967,836 (GRCm39) |
missense |
probably benign |
0.07 |
R0370:Ktn1
|
UTSW |
14 |
47,901,532 (GRCm39) |
missense |
probably benign |
0.00 |
R0371:Ktn1
|
UTSW |
14 |
47,961,460 (GRCm39) |
nonsense |
probably null |
|
R0530:Ktn1
|
UTSW |
14 |
47,970,700 (GRCm39) |
missense |
probably benign |
0.14 |
R0531:Ktn1
|
UTSW |
14 |
47,901,398 (GRCm39) |
missense |
probably damaging |
0.98 |
R0611:Ktn1
|
UTSW |
14 |
47,932,073 (GRCm39) |
missense |
probably benign |
|
R0836:Ktn1
|
UTSW |
14 |
47,938,519 (GRCm39) |
splice site |
probably null |
|
R1076:Ktn1
|
UTSW |
14 |
47,932,095 (GRCm39) |
missense |
probably damaging |
0.99 |
R1522:Ktn1
|
UTSW |
14 |
47,904,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R1554:Ktn1
|
UTSW |
14 |
47,932,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R1992:Ktn1
|
UTSW |
14 |
47,932,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R2040:Ktn1
|
UTSW |
14 |
47,938,069 (GRCm39) |
splice site |
probably benign |
|
R2080:Ktn1
|
UTSW |
14 |
47,963,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R2110:Ktn1
|
UTSW |
14 |
47,931,345 (GRCm39) |
missense |
possibly damaging |
0.47 |
R2144:Ktn1
|
UTSW |
14 |
47,952,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R3730:Ktn1
|
UTSW |
14 |
47,938,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R3780:Ktn1
|
UTSW |
14 |
47,943,860 (GRCm39) |
splice site |
probably benign |
|
R3782:Ktn1
|
UTSW |
14 |
47,943,860 (GRCm39) |
splice site |
probably benign |
|
R4414:Ktn1
|
UTSW |
14 |
47,962,387 (GRCm39) |
nonsense |
probably null |
|
R4610:Ktn1
|
UTSW |
14 |
47,963,636 (GRCm39) |
intron |
probably benign |
|
R4784:Ktn1
|
UTSW |
14 |
47,930,953 (GRCm39) |
critical splice donor site |
probably null |
|
R4838:Ktn1
|
UTSW |
14 |
47,963,413 (GRCm39) |
nonsense |
probably null |
|
R4909:Ktn1
|
UTSW |
14 |
47,943,917 (GRCm39) |
missense |
probably damaging |
0.99 |
R4976:Ktn1
|
UTSW |
14 |
47,907,756 (GRCm39) |
critical splice donor site |
probably null |
|
R5110:Ktn1
|
UTSW |
14 |
47,941,744 (GRCm39) |
splice site |
probably benign |
|
R5257:Ktn1
|
UTSW |
14 |
47,904,820 (GRCm39) |
missense |
probably benign |
0.05 |
R5469:Ktn1
|
UTSW |
14 |
47,928,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R5600:Ktn1
|
UTSW |
14 |
47,927,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R5607:Ktn1
|
UTSW |
14 |
47,971,554 (GRCm39) |
intron |
probably benign |
|
R5608:Ktn1
|
UTSW |
14 |
47,971,554 (GRCm39) |
intron |
probably benign |
|
R5920:Ktn1
|
UTSW |
14 |
47,961,481 (GRCm39) |
nonsense |
probably null |
|
R6045:Ktn1
|
UTSW |
14 |
47,914,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R6139:Ktn1
|
UTSW |
14 |
47,963,672 (GRCm39) |
splice site |
probably null |
|
R6282:Ktn1
|
UTSW |
14 |
47,901,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R6654:Ktn1
|
UTSW |
14 |
47,927,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R6957:Ktn1
|
UTSW |
14 |
47,904,810 (GRCm39) |
nonsense |
probably null |
|
R6959:Ktn1
|
UTSW |
14 |
47,957,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R7170:Ktn1
|
UTSW |
14 |
47,943,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R7206:Ktn1
|
UTSW |
14 |
47,932,985 (GRCm39) |
missense |
probably damaging |
0.97 |
R7442:Ktn1
|
UTSW |
14 |
47,952,097 (GRCm39) |
missense |
probably benign |
0.01 |
R7462:Ktn1
|
UTSW |
14 |
47,932,089 (GRCm39) |
missense |
probably null |
1.00 |
R7513:Ktn1
|
UTSW |
14 |
47,901,541 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7743:Ktn1
|
UTSW |
14 |
47,907,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Ktn1
|
UTSW |
14 |
47,943,230 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8062:Ktn1
|
UTSW |
14 |
47,962,429 (GRCm39) |
critical splice donor site |
probably null |
|
R8244:Ktn1
|
UTSW |
14 |
47,912,280 (GRCm39) |
missense |
probably null |
1.00 |
R8387:Ktn1
|
UTSW |
14 |
47,944,744 (GRCm39) |
splice site |
probably null |
|
R8724:Ktn1
|
UTSW |
14 |
47,931,335 (GRCm39) |
missense |
probably benign |
0.00 |
R8725:Ktn1
|
UTSW |
14 |
47,907,757 (GRCm39) |
critical splice donor site |
probably benign |
|
R8962:Ktn1
|
UTSW |
14 |
47,901,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R9001:Ktn1
|
UTSW |
14 |
47,910,409 (GRCm39) |
missense |
probably damaging |
0.99 |
R9072:Ktn1
|
UTSW |
14 |
47,941,694 (GRCm39) |
missense |
probably benign |
0.25 |
R9324:Ktn1
|
UTSW |
14 |
47,948,353 (GRCm39) |
missense |
probably benign |
0.02 |
R9423:Ktn1
|
UTSW |
14 |
47,912,318 (GRCm39) |
missense |
probably benign |
0.00 |
R9479:Ktn1
|
UTSW |
14 |
47,962,174 (GRCm39) |
missense |
probably damaging |
0.98 |
R9674:Ktn1
|
UTSW |
14 |
47,922,213 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9718:Ktn1
|
UTSW |
14 |
47,910,508 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1177:Ktn1
|
UTSW |
14 |
47,929,895 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGGGCTCTCTGAGCCAAACAGTAGC -3'
(R):5'- TGATTTACTCTAGCAATGCCCGCAGAC -3'
Sequencing Primer
(F):5'- ATATGTAGGTCTGAATGGTATTACCA -3'
(R):5'- CAAAAGTGCTCTCACACAGATCAAG -3'
|
Posted On |
2013-05-09 |