Incidental Mutation 'R7442:Ktn1'
ID |
577043 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ktn1
|
Ensembl Gene |
ENSMUSG00000021843 |
Gene Name |
kinectin 1 |
Synonyms |
|
MMRRC Submission |
045518-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7442 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
47886551-47974021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 47952097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 979
(E979G)
|
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 benign
Transcript: ENSMUST00000022391
AA Change: E979G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000022391 Gene: ENSMUSG00000021843 AA Change: E979G
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: E956G
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000140186 Gene: ENSMUSG00000021843 AA Change: E956G
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: E956G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139625 Gene: ENSMUSG00000021843 AA Change: E956G
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: E956G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000140873 Gene: ENSMUSG00000021843 AA Change: E956G
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 benign
Transcript: ENSMUST00000186761
AA Change: E979G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000139521 Gene: ENSMUSG00000021843 AA Change: E979G
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: ENSMUST00000187039
AA Change: E956G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000140202 Gene: ENSMUSG00000021843 AA Change: E956G
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: ENSMUST00000187262
AA Change: E979G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000140206 Gene: ENSMUSG00000021843 AA Change: E979G
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: ENSMUST00000187839
AA Change: E979G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000140324 Gene: ENSMUSG00000021843 AA Change: E979G
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: E956G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000140845 Gene: ENSMUSG00000021843 AA Change: E956G
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: E956G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000140865 Gene: ENSMUSG00000021843 AA Change: E956G
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: ENSMUST00000189101
AA Change: E956G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000140178 Gene: ENSMUSG00000021843 AA Change: E956G
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: ENSMUST00000189533
AA Change: E956G
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000140142 Gene: ENSMUSG00000021843 AA Change: E956G
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 |
probably benign
Transcript: ENSMUST00000190182
AA Change: E979G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000140301 Gene: ENSMUSG00000021843 AA Change: E979G
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 |
possibly damaging
Transcript: ENSMUST00000190252
AA Change: E979G
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140011 Gene: ENSMUSG00000021843 AA Change: E979G
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: ENSMUST00000190535
AA Change: E956G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000139952 Gene: ENSMUSG00000021843 AA Change: E956G
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: ENSMUST00000190999
AA Change: E956G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000139673 Gene: ENSMUSG00000021843 AA Change: E956G
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: ENSMUST00000191018
AA Change: E956G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000139585 Gene: ENSMUSG00000021843 AA Change: E956G
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 |
possibly damaging
Transcript: ENSMUST00000191446
AA Change: E979G
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000140748 Gene: ENSMUSG00000021843 AA Change: E979G
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: ENSMUST00000191511
AA Change: E956G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000139946 Gene: ENSMUSG00000021843 AA Change: E956G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (76/76) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700011L22Rik |
A |
G |
8: 79,946,919 (GRCm39) |
I109T |
probably damaging |
Het |
A430033K04Rik |
T |
C |
5: 138,645,509 (GRCm39) |
S465P |
possibly damaging |
Het |
Acap3 |
T |
C |
4: 155,990,078 (GRCm39) |
F753L |
probably damaging |
Het |
Adam9 |
A |
T |
8: 25,457,223 (GRCm39) |
V635E |
probably damaging |
Het |
Adgre4 |
T |
A |
17: 56,159,340 (GRCm39) |
V675E |
probably benign |
Het |
Anapc4 |
T |
C |
5: 53,014,543 (GRCm39) |
Y469H |
probably benign |
Het |
Ankdd1b |
T |
G |
13: 96,561,268 (GRCm39) |
K325N |
possibly damaging |
Het |
Aox1 |
T |
C |
1: 58,121,172 (GRCm39) |
V881A |
probably damaging |
Het |
Arhgap5 |
A |
G |
12: 52,563,739 (GRCm39) |
T237A |
probably benign |
Het |
Asah1 |
T |
C |
8: 41,796,602 (GRCm39) |
D331G |
possibly damaging |
Het |
Atp5f1a |
G |
A |
18: 77,866,820 (GRCm39) |
R231H |
probably benign |
Het |
Bod1l |
G |
A |
5: 41,964,522 (GRCm39) |
P2694L |
probably damaging |
Het |
Bst1 |
T |
C |
5: 43,979,084 (GRCm39) |
S143P |
probably benign |
Het |
Cacna1b |
A |
C |
2: 24,497,513 (GRCm39) |
S2132A |
probably benign |
Het |
Caps2 |
G |
T |
10: 112,044,259 (GRCm39) |
R486L |
probably damaging |
Het |
Ccdc168 |
A |
G |
1: 44,097,868 (GRCm39) |
S1077P |
possibly damaging |
Het |
Cd68 |
T |
C |
11: 69,556,754 (GRCm39) |
T18A |
probably benign |
Het |
Cdk8 |
T |
C |
5: 146,229,579 (GRCm39) |
|
probably null |
Het |
Col18a1 |
A |
T |
10: 76,932,072 (GRCm39) |
I127N |
unknown |
Het |
Dsc3 |
T |
C |
18: 20,114,213 (GRCm39) |
D347G |
probably damaging |
Het |
Dyrk2 |
T |
C |
10: 118,695,786 (GRCm39) |
S491G |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,828,266 (GRCm39) |
Y530* |
probably null |
Het |
Enc1 |
A |
T |
13: 97,383,248 (GRCm39) |
H586L |
probably benign |
Het |
Ephb6 |
T |
G |
6: 41,594,981 (GRCm39) |
|
probably null |
Het |
Etv5 |
G |
T |
16: 22,254,809 (GRCm39) |
Q48K |
probably damaging |
Het |
Exoc3l |
A |
G |
8: 106,019,558 (GRCm39) |
W404R |
probably damaging |
Het |
Fbn1 |
C |
A |
2: 125,245,132 (GRCm39) |
A252S |
possibly damaging |
Het |
Foxe3 |
A |
G |
4: 114,782,490 (GRCm39) |
S241P |
unknown |
Het |
Gm49380 |
T |
A |
9: 44,023,709 (GRCm39) |
M180L |
probably benign |
Het |
Hoxd1 |
A |
T |
2: 74,593,903 (GRCm39) |
D153V |
probably damaging |
Het |
Ifi207 |
C |
T |
1: 173,554,997 (GRCm39) |
S895N |
probably benign |
Het |
Igf1r |
G |
A |
7: 67,823,026 (GRCm39) |
V385M |
probably damaging |
Het |
Ints9 |
C |
T |
14: 65,232,513 (GRCm39) |
Q191* |
probably null |
Het |
Lama3 |
G |
A |
18: 12,605,238 (GRCm39) |
|
probably null |
Het |
Lrtm2 |
C |
T |
6: 119,294,392 (GRCm39) |
M246I |
probably damaging |
Het |
Mdm1 |
T |
C |
10: 117,982,590 (GRCm39) |
V75A |
probably benign |
Het |
Mia3 |
T |
C |
1: 183,140,220 (GRCm39) |
E165G |
probably benign |
Het |
Mrps21 |
T |
C |
3: 95,770,128 (GRCm39) |
E67G |
probably damaging |
Het |
Mybpc1 |
A |
C |
10: 88,362,155 (GRCm39) |
I995S |
probably damaging |
Het |
Mylk2 |
T |
G |
2: 152,753,346 (GRCm39) |
|
probably benign |
Het |
Myo16 |
G |
A |
8: 10,322,537 (GRCm39) |
C11Y |
probably damaging |
Het |
Nudt18 |
A |
C |
14: 70,816,798 (GRCm39) |
D134A |
probably benign |
Het |
Obox1 |
G |
T |
7: 15,289,491 (GRCm39) |
K93N |
probably benign |
Het |
Or12d2 |
T |
A |
17: 37,624,816 (GRCm39) |
H153L |
possibly damaging |
Het |
Or2r3 |
A |
T |
6: 42,448,434 (GRCm39) |
M226K |
probably benign |
Het |
Or56a4 |
T |
C |
7: 104,806,289 (GRCm39) |
Y200C |
probably damaging |
Het |
Or5ar1 |
A |
T |
2: 85,672,096 (GRCm39) |
V13D |
probably benign |
Het |
Pkd2l1 |
T |
C |
19: 44,145,668 (GRCm39) |
H185R |
probably benign |
Het |
Ptpn18 |
A |
G |
1: 34,501,831 (GRCm39) |
T48A |
probably benign |
Het |
Ptprd |
A |
T |
4: 75,978,058 (GRCm39) |
Y583* |
probably null |
Het |
Ptprk |
G |
A |
10: 28,450,815 (GRCm39) |
G992D |
probably damaging |
Het |
Setdb2 |
A |
G |
14: 59,656,700 (GRCm39) |
F206L |
probably damaging |
Het |
Slain1 |
A |
G |
14: 103,923,150 (GRCm39) |
D247G |
probably damaging |
Het |
Slc10a2 |
A |
T |
8: 5,139,086 (GRCm39) |
V286E |
possibly damaging |
Het |
Slc44a2 |
C |
T |
9: 21,256,819 (GRCm39) |
T367I |
probably damaging |
Het |
Slco4a1 |
T |
C |
2: 180,115,919 (GRCm39) |
V685A |
probably benign |
Het |
Srp54c |
T |
A |
12: 55,302,347 (GRCm39) |
Y333N |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,039,091 (GRCm39) |
S1912P |
unknown |
Het |
St7l |
A |
G |
3: 104,796,645 (GRCm39) |
T253A |
possibly damaging |
Het |
Styxl2 |
T |
C |
1: 165,928,584 (GRCm39) |
K343E |
probably benign |
Het |
Sun3 |
T |
G |
11: 8,981,445 (GRCm39) |
Y53S |
possibly damaging |
Het |
Tktl2 |
A |
G |
8: 66,965,561 (GRCm39) |
N373S |
possibly damaging |
Het |
Tmco3 |
T |
A |
8: 13,370,781 (GRCm39) |
S648R |
probably damaging |
Het |
Tmem178 |
T |
A |
17: 81,252,185 (GRCm39) |
V23D |
probably damaging |
Het |
Tmem229a |
C |
A |
6: 24,955,689 (GRCm39) |
G22W |
probably damaging |
Het |
Top3a |
C |
T |
11: 60,644,744 (GRCm39) |
S320N |
possibly damaging |
Het |
Treml1 |
C |
A |
17: 48,673,719 (GRCm39) |
D243E |
probably damaging |
Het |
Trim42 |
C |
T |
9: 97,244,998 (GRCm39) |
V601M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,573,350 (GRCm39) |
S25848P |
probably damaging |
Het |
Vmn1r86 |
A |
T |
7: 12,835,983 (GRCm39) |
F298I |
possibly damaging |
Het |
Vmn2r96 |
T |
C |
17: 18,793,662 (GRCm39) |
F2S |
probably benign |
Het |
Xpc |
A |
G |
6: 91,481,631 (GRCm39) |
L230P |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,867,680 (GRCm39) |
V189A |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,519,468 (GRCm39) |
T197A |
probably damaging |
Het |
Zswim1 |
A |
G |
2: 164,667,710 (GRCm39) |
K321E |
probably damaging |
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 |
R7206:Ktn1
|
UTSW |
14 |
47,932,985 (GRCm39) |
missense |
probably damaging |
0.97 |
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'- TTTCACAGGATGGGCTCTCTG -3'
(R):5'- GTGCTCTCACACAGATCAAGAG -3'
Sequencing Primer
(F):5'- TCTCTGAGCCAAACAGTAGCTG -3'
(R):5'- AGTCTAGCGCTCATCAGT -3'
|
Posted On |
2019-10-07 |