Incidental Mutation 'IGL01017:Ktn1'
ID |
53970 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ktn1
|
Ensembl Gene |
ENSMUSG00000021843 |
Gene Name |
kinectin 1 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01017
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
47886551-47974021 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 47946335 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 917
(S917P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139946
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022391]
[ENSMUST00000185343]
[ENSMUST00000185940]
[ENSMUST00000186627]
[ENSMUST00000186761]
[ENSMUST00000187039]
[ENSMUST00000187262]
[ENSMUST00000187839]
[ENSMUST00000188330]
[ENSMUST00000188553]
[ENSMUST00000189101]
[ENSMUST00000189533]
[ENSMUST00000190182]
[ENSMUST00000190252]
[ENSMUST00000190535]
[ENSMUST00000190999]
[ENSMUST00000191018]
[ENSMUST00000191446]
[ENSMUST00000189986]
[ENSMUST00000191511]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022391
AA Change: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000022391 Gene: ENSMUSG00000021843 AA Change: S940P
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: S917P
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000140186 Gene: ENSMUSG00000021843 AA Change: S917P
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: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139625 Gene: ENSMUSG00000021843 AA Change: S917P
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: S917P
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000140873 Gene: ENSMUSG00000021843 AA Change: S917P
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: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139521 Gene: ENSMUSG00000021843 AA Change: S940P
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: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140202 Gene: ENSMUSG00000021843 AA Change: S917P
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: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140206 Gene: ENSMUSG00000021843 AA Change: S940P
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: S940P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140324 Gene: ENSMUSG00000021843 AA Change: S940P
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: S917P
PolyPhen 2
Score 0.211 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000140845 Gene: ENSMUSG00000021843 AA Change: S917P
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: S917P
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140865 Gene: ENSMUSG00000021843 AA Change: S917P
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: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000140178 Gene: ENSMUSG00000021843 AA Change: S917P
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: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000140142 Gene: ENSMUSG00000021843 AA Change: S917P
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: ENSMUST00000190182
AA Change: S940P
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000140301 Gene: ENSMUSG00000021843 AA Change: S940P
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 benign
Transcript: ENSMUST00000190252
AA Change: S940P
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140011 Gene: ENSMUSG00000021843 AA Change: S940P
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: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139952 Gene: ENSMUSG00000021843 AA Change: S917P
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: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139673 Gene: ENSMUSG00000021843 AA Change: S917P
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: S917P
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000139585 Gene: ENSMUSG00000021843 AA Change: S917P
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 benign
Transcript: ENSMUST00000191446
AA Change: S940P
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000140748 Gene: ENSMUSG00000021843 AA Change: S940P
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 |
noncoding transcript
Transcript: ENSMUST00000190164
|
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: ENSMUST00000191511
AA Change: S917P
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000139946 Gene: ENSMUSG00000021843 AA Change: S917P
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 |
|
Validation Efficiency |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ambn |
G |
A |
5: 88,607,218 (GRCm39) |
A29T |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,621,467 (GRCm39) |
K795R |
probably damaging |
Het |
Atg3 |
T |
C |
16: 45,004,174 (GRCm39) |
|
probably null |
Het |
Ccdc169 |
T |
C |
3: 55,078,739 (GRCm39) |
V200A |
possibly damaging |
Het |
Cdr2l |
C |
A |
11: 115,283,564 (GRCm39) |
Q141K |
probably damaging |
Het |
Cts3 |
T |
A |
13: 61,715,988 (GRCm39) |
I93F |
probably damaging |
Het |
Eif2ak2 |
A |
G |
17: 79,171,287 (GRCm39) |
L372S |
probably damaging |
Het |
Elovl5 |
T |
C |
9: 77,888,853 (GRCm39) |
I240T |
possibly damaging |
Het |
Farp1 |
C |
T |
14: 121,510,186 (GRCm39) |
A728V |
possibly damaging |
Het |
Fbln1 |
A |
G |
15: 85,128,390 (GRCm39) |
D529G |
possibly damaging |
Het |
Flnb |
G |
T |
14: 7,917,390 (GRCm38) |
|
probably benign |
Het |
Gm14401 |
A |
T |
2: 176,778,625 (GRCm39) |
H237L |
probably damaging |
Het |
Hivep3 |
T |
A |
4: 119,956,443 (GRCm39) |
H1586Q |
probably damaging |
Het |
Igkv12-98 |
T |
A |
6: 68,548,093 (GRCm39) |
L74* |
probably null |
Het |
Iigp1c |
T |
A |
18: 60,378,508 (GRCm39) |
D14E |
possibly damaging |
Het |
Lama3 |
T |
C |
18: 12,574,200 (GRCm39) |
|
probably null |
Het |
Lamb1 |
A |
G |
12: 31,351,063 (GRCm39) |
D723G |
possibly damaging |
Het |
Lrrc39 |
A |
T |
3: 116,364,500 (GRCm39) |
R130S |
probably benign |
Het |
Mcm3 |
A |
C |
1: 20,875,039 (GRCm39) |
|
probably null |
Het |
Muc19 |
T |
G |
15: 91,764,901 (GRCm39) |
|
noncoding transcript |
Het |
Necap2 |
A |
G |
4: 140,794,879 (GRCm39) |
F266S |
probably damaging |
Het |
Nfil3 |
C |
T |
13: 53,122,055 (GRCm39) |
G283D |
probably damaging |
Het |
Nlrp4e |
A |
T |
7: 23,021,092 (GRCm39) |
K526N |
possibly damaging |
Het |
Or13a20 |
A |
G |
7: 140,232,389 (GRCm39) |
T166A |
probably benign |
Het |
Or4p7 |
T |
A |
2: 88,222,245 (GRCm39) |
V218E |
possibly damaging |
Het |
Pelp1 |
G |
A |
11: 70,287,720 (GRCm39) |
R401W |
probably damaging |
Het |
Phldb3 |
G |
T |
7: 24,328,295 (GRCm39) |
C613F |
probably damaging |
Het |
Ppp1ca |
T |
C |
19: 4,243,110 (GRCm39) |
Y93H |
probably damaging |
Het |
Ppp1r3b |
A |
G |
8: 35,851,476 (GRCm39) |
E105G |
probably benign |
Het |
Prb1a |
G |
T |
6: 132,184,194 (GRCm39) |
Q480K |
unknown |
Het |
Ryr1 |
A |
T |
7: 28,781,968 (GRCm39) |
I2007N |
probably damaging |
Het |
Scgb1b27 |
A |
G |
7: 33,721,228 (GRCm39) |
T39A |
probably damaging |
Het |
Serpinb3b |
T |
C |
1: 107,082,187 (GRCm39) |
D359G |
probably benign |
Het |
Sgo2b |
G |
T |
8: 64,379,557 (GRCm39) |
R1092S |
probably benign |
Het |
Sh3pxd2b |
C |
A |
11: 32,353,993 (GRCm39) |
S187* |
probably null |
Het |
Slc11a1 |
T |
A |
1: 74,418,955 (GRCm39) |
L92H |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,617,758 (GRCm39) |
V585A |
probably damaging |
Het |
Sp6 |
A |
G |
11: 96,913,429 (GRCm39) |
|
probably benign |
Het |
Spata16 |
A |
T |
3: 26,894,871 (GRCm39) |
I307F |
possibly damaging |
Het |
Tfpi2 |
T |
A |
6: 3,965,359 (GRCm39) |
H33L |
probably benign |
Het |
Tnxb |
T |
A |
17: 34,912,782 (GRCm39) |
D1642E |
probably damaging |
Het |
Ttc1 |
T |
C |
11: 43,621,320 (GRCm39) |
N287S |
probably damaging |
Het |
Ttc9 |
G |
A |
12: 81,678,536 (GRCm39) |
V120I |
possibly damaging |
Het |
Umps |
A |
G |
16: 33,787,272 (GRCm39) |
V27A |
probably damaging |
Het |
Usp50 |
C |
A |
2: 126,551,334 (GRCm39) |
M48I |
probably damaging |
Het |
Vmn1r76 |
A |
T |
7: 11,664,309 (GRCm39) |
C267S |
possibly damaging |
Het |
Wee1 |
A |
T |
7: 109,725,055 (GRCm39) |
D275V |
possibly damaging |
Het |
Zmym6 |
C |
T |
4: 126,982,152 (GRCm39) |
P63L |
probably benign |
Het |
|
Other mutations in Ktn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
|
Posted On |
2013-06-28 |