Incidental Mutation 'R7206:Ktn1'
ID |
560654 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ktn1
|
Ensembl Gene |
ENSMUSG00000021843 |
Gene Name |
kinectin 1 |
Synonyms |
|
MMRRC Submission |
045284-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7206 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
47886551-47974021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47932985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Serine
at position 713
(L713S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022391
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022391]
[ENSMUST00000185343]
[ENSMUST00000185940]
[ENSMUST00000186627]
[ENSMUST00000186761]
[ENSMUST00000187039]
[ENSMUST00000187262]
[ENSMUST00000187839]
[ENSMUST00000188330]
[ENSMUST00000188553]
[ENSMUST00000189101]
[ENSMUST00000189533]
[ENSMUST00000189986]
[ENSMUST00000190182]
[ENSMUST00000190252]
[ENSMUST00000190535]
[ENSMUST00000190999]
[ENSMUST00000191018]
[ENSMUST00000191446]
[ENSMUST00000191511]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022391
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022391 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
possibly damaging
Transcript: ENSMUST00000185343
AA Change: L713S
PolyPhen 2
Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140186 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000185940
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139625 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
possibly damaging
Transcript: ENSMUST00000186627
AA Change: L713S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140873 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
probably damaging
Transcript: ENSMUST00000186761
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139521 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000187039
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140202 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000187262
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140206 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000187839
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140324 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000188330
AA Change: L713S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140845 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000188553
AA Change: L713S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140865 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
possibly damaging
Transcript: ENSMUST00000189101
AA Change: L713S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140178 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000189533
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000140142 Gene: ENSMUSG00000021843 AA Change: L713S
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: 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 |
possibly damaging
Transcript: ENSMUST00000190182
AA Change: L713S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000140301 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
probably damaging
Transcript: ENSMUST00000190252
AA Change: L713S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140011 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
possibly damaging
Transcript: ENSMUST00000190535
AA Change: L713S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139952 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
possibly damaging
Transcript: ENSMUST00000190999
AA Change: L713S
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000139673 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
possibly damaging
Transcript: ENSMUST00000191018
AA Change: L713S
PolyPhen 2
Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000139585 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000191446
AA Change: L713S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140748 Gene: ENSMUSG00000021843 AA Change: L713S
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 damaging
Transcript: ENSMUST00000191511
AA Change: L713S
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139946 Gene: ENSMUSG00000021843 AA Change: L713S
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 |
|
Meta Mutation Damage Score |
0.2220 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
99% (87/88) |
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: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
G |
A |
3: 59,932,662 (GRCm39) |
M392I |
probably benign |
Het |
Aadacl4fm2 |
T |
A |
4: 144,285,211 (GRCm39) |
D142V |
probably damaging |
Het |
Acr |
T |
C |
15: 89,458,374 (GRCm39) |
S352P |
probably benign |
Het |
Adam6a |
T |
C |
12: 113,509,654 (GRCm39) |
C676R |
probably damaging |
Het |
Adgra3 |
T |
C |
5: 50,164,238 (GRCm39) |
D247G |
probably damaging |
Het |
Agxt2 |
A |
T |
15: 10,377,542 (GRCm39) |
E147D |
probably damaging |
Het |
Atp2a1 |
T |
C |
7: 126,047,144 (GRCm39) |
T805A |
probably benign |
Het |
Atp8b4 |
T |
C |
2: 126,300,212 (GRCm39) |
S106G |
probably damaging |
Het |
Ccdc170 |
T |
A |
10: 4,464,120 (GRCm39) |
M87K |
possibly damaging |
Het |
Ccnl2 |
T |
G |
4: 155,905,431 (GRCm39) |
V287G |
possibly damaging |
Het |
Ccr6 |
A |
T |
17: 8,475,781 (GRCm39) |
M329L |
probably benign |
Het |
Cflar |
G |
T |
1: 58,780,150 (GRCm39) |
M248I |
|
Het |
Cib4 |
A |
T |
5: 30,703,110 (GRCm39) |
L5* |
probably null |
Het |
Col27a1 |
A |
T |
4: 63,153,583 (GRCm39) |
Y645F |
probably benign |
Het |
Cxcr2 |
A |
G |
1: 74,198,213 (GRCm39) |
T236A |
possibly damaging |
Het |
Dnah12 |
G |
A |
14: 26,500,869 (GRCm39) |
|
probably null |
Het |
Dnah7a |
A |
T |
1: 53,737,792 (GRCm39) |
L47* |
probably null |
Het |
Dnajb6 |
A |
C |
5: 29,986,335 (GRCm39) |
K301T |
possibly damaging |
Het |
Dpf2 |
T |
A |
19: 5,954,571 (GRCm39) |
I157F |
possibly damaging |
Het |
Drd4 |
G |
A |
7: 140,872,032 (GRCm39) |
G28R |
probably damaging |
Het |
Dus3l |
A |
T |
17: 57,074,807 (GRCm39) |
I310F |
probably damaging |
Het |
Dusp29 |
A |
G |
14: 21,727,102 (GRCm39) |
V182A |
probably damaging |
Het |
Eef1akmt3 |
A |
G |
10: 126,876,862 (GRCm39) |
L95P |
probably damaging |
Het |
Fabp7 |
C |
T |
10: 57,661,087 (GRCm39) |
|
probably benign |
Het |
Fam135a |
T |
C |
1: 24,069,354 (GRCm39) |
N505S |
probably benign |
Het |
Fam216b |
C |
A |
14: 78,322,567 (GRCm39) |
D46Y |
probably damaging |
Het |
Gata6 |
C |
T |
18: 11,054,850 (GRCm39) |
R260C |
probably damaging |
Het |
Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
Golgb1 |
A |
G |
16: 36,734,111 (GRCm39) |
I1160M |
probably benign |
Het |
Hjv |
A |
T |
3: 96,435,444 (GRCm39) |
D234V |
probably damaging |
Het |
Kiss1 |
A |
G |
1: 133,255,063 (GRCm39) |
K26E |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,899,780 (GRCm39) |
F494I |
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,529,513 (GRCm39) |
D2052G |
probably damaging |
Het |
Lpo |
A |
C |
11: 87,698,249 (GRCm39) |
L582R |
probably damaging |
Het |
Map2k3 |
A |
G |
11: 60,834,406 (GRCm39) |
T125A |
|
Het |
Matn3 |
T |
A |
12: 9,011,170 (GRCm39) |
N360K |
probably benign |
Het |
Mlip |
A |
T |
9: 77,072,144 (GRCm39) |
V237E |
probably damaging |
Het |
Mms22l |
T |
C |
4: 24,591,146 (GRCm39) |
V999A |
probably benign |
Het |
Mn1 |
A |
G |
5: 111,568,378 (GRCm39) |
K783E |
possibly damaging |
Het |
Myo1h |
A |
T |
5: 114,457,836 (GRCm39) |
K132* |
probably null |
Het |
Nle1 |
A |
G |
11: 82,795,757 (GRCm39) |
V230A |
probably benign |
Het |
Or1ak2 |
T |
A |
2: 36,827,784 (GRCm39) |
Y218N |
probably damaging |
Het |
Or1e1b-ps1 |
A |
T |
11: 73,845,647 (GRCm39) |
I44F |
probably benign |
Het |
Or4a68 |
T |
C |
2: 89,270,801 (GRCm39) |
|
probably benign |
Het |
Or4f62 |
T |
G |
2: 111,986,804 (GRCm39) |
C169W |
probably damaging |
Het |
Or51f23 |
T |
C |
7: 102,452,891 (GRCm39) |
S69P |
probably damaging |
Het |
Or7e169 |
C |
T |
9: 19,757,856 (GRCm39) |
D20N |
probably damaging |
Het |
Ormdl2 |
T |
A |
10: 128,656,284 (GRCm39) |
H7L |
possibly damaging |
Het |
Pam |
A |
G |
1: 97,823,757 (GRCm39) |
S225P |
probably damaging |
Het |
Pan2 |
C |
A |
10: 128,150,414 (GRCm39) |
Y719* |
probably null |
Het |
Ppfia4 |
T |
C |
1: 134,255,127 (GRCm39) |
S243G |
probably benign |
Het |
Ppig |
T |
G |
2: 69,571,910 (GRCm39) |
S210A |
unknown |
Het |
Ppwd1 |
A |
T |
13: 104,350,106 (GRCm39) |
N426K |
probably damaging |
Het |
Prxl2a |
T |
A |
14: 40,726,142 (GRCm39) |
M12L |
probably benign |
Het |
Rnf10 |
T |
G |
5: 115,382,180 (GRCm39) |
D675A |
probably benign |
Het |
Rrp12 |
A |
T |
19: 41,866,478 (GRCm39) |
L619H |
probably damaging |
Het |
Rsph10b |
C |
T |
5: 143,898,010 (GRCm39) |
T497I |
possibly damaging |
Het |
Scnm1 |
A |
T |
3: 95,041,205 (GRCm39) |
M1K |
probably null |
Het |
Scp2 |
G |
T |
4: 107,931,638 (GRCm39) |
D332E |
probably benign |
Het |
Senp3 |
T |
C |
11: 69,569,557 (GRCm39) |
I314V |
probably benign |
Het |
Sfmbt1 |
T |
A |
14: 30,533,330 (GRCm39) |
|
probably null |
Het |
Slc44a2 |
T |
C |
9: 21,258,103 (GRCm39) |
F451S |
probably damaging |
Het |
Slfn1 |
A |
T |
11: 83,012,837 (GRCm39) |
M318L |
probably benign |
Het |
Syne2 |
C |
T |
12: 76,051,531 (GRCm39) |
S4087L |
probably benign |
Het |
Syt7 |
A |
G |
19: 10,395,337 (GRCm39) |
Y49C |
probably damaging |
Het |
Tas2r134 |
T |
C |
2: 51,518,120 (GRCm39) |
Y200H |
probably benign |
Het |
Tgfbr1 |
A |
T |
4: 47,402,941 (GRCm39) |
H315L |
probably damaging |
Het |
Tmem184c |
A |
G |
8: 78,323,206 (GRCm39) |
V552A |
possibly damaging |
Het |
Tnxb |
A |
G |
17: 34,923,075 (GRCm39) |
R2553G |
possibly damaging |
Het |
Tomm40 |
C |
G |
7: 19,444,861 (GRCm39) |
R173S |
probably benign |
Het |
Tonsl |
T |
C |
15: 76,517,851 (GRCm39) |
D650G |
probably damaging |
Het |
Tpo |
G |
C |
12: 30,153,133 (GRCm39) |
S407W |
possibly damaging |
Het |
Trank1 |
T |
C |
9: 111,174,583 (GRCm39) |
|
probably null |
Het |
Trp53tg5 |
T |
C |
2: 164,313,378 (GRCm39) |
E99G |
probably damaging |
Het |
Tubb2a |
C |
A |
13: 34,259,505 (GRCm39) |
S95I |
possibly damaging |
Het |
Vav2 |
C |
A |
2: 27,226,731 (GRCm39) |
R114L |
probably benign |
Het |
Vmn1r172 |
A |
T |
7: 23,359,582 (GRCm39) |
I156L |
possibly damaging |
Het |
Vmn1r238 |
A |
G |
18: 3,122,623 (GRCm39) |
Y264H |
possibly damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,016,727 (GRCm39) |
M397K |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,522,075 (GRCm39) |
N88S |
probably benign |
Het |
Vps13a |
T |
C |
19: 16,731,662 (GRCm39) |
N150S |
probably damaging |
Het |
Vps35 |
A |
T |
8: 86,014,350 (GRCm39) |
Y100N |
probably damaging |
Het |
Vps8 |
A |
C |
16: 21,276,171 (GRCm39) |
I235L |
probably damaging |
Het |
Yipf2 |
T |
A |
9: 21,501,657 (GRCm39) |
H157L |
probably damaging |
Het |
Zfp354a |
A |
T |
11: 50,961,073 (GRCm39) |
H426L |
probably damaging |
Het |
Zfp503 |
G |
T |
14: 22,035,553 (GRCm39) |
S454R |
possibly damaging |
Het |
Zfp619 |
C |
T |
7: 39,184,824 (GRCm39) |
R285C |
probably benign |
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 |
R0270:Ktn1
|
UTSW |
14 |
47,952,119 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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'- AATCCTTGTCCATTGAGCTCTG -3'
(R):5'- GTAAGGCTCCCAGAACAGAACG -3'
Sequencing Primer
(F):5'- GAATTTCTATGTCTGTATGGAACCC -3'
(R):5'- ATTAACAACTTCTTCTTCTCAGAGAC -3'
|
Posted On |
2019-06-26 |