Incidental Mutation 'IGL02565:Ktn1'
ID | 298808 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ktn1
|
Ensembl Gene |
ENSMUSG00000021843 |
Gene Name | kinectin 1 |
Synonyms | |
Accession Numbers | |
Is this an essential gene? |
Non essential (E-score: 0.000)
|
Stock # | IGL02565
|
Quality Score | |
Status |
|
Chromosome | 14 |
Chromosomal Location | 47648448-47739894 bp(+) (GRCm38) |
Type of Mutation | splice site |
DNA Base Change (assembly) |
A to T
at 47672934 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
|
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]
[ENSMUST00000191446]
[ENSMUST00000190182]
[ENSMUST00000191511]
[ENSMUST00000190252]
[ENSMUST00000189986]
[ENSMUST00000190535]
[ENSMUST00000190999]
[ENSMUST00000191018]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000022391
|
SMART Domains |
Protein: ENSMUSP00000022391 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140186 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000139625 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140873 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000139521 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140202 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140206 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140324 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140845 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140865 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140178 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000140142 Gene: ENSMUSG00000021843
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: ENSMUST00000191446
|
SMART Domains |
Protein: ENSMUSP00000140748 Gene: ENSMUSG00000021843
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: ENSMUST00000190182
|
SMART Domains |
Protein: ENSMUSP00000140301 Gene: ENSMUSG00000021843
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: ENSMUST00000191511
|
SMART Domains |
Protein: ENSMUSP00000139946 Gene: ENSMUSG00000021843
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: ENSMUST00000190252
|
SMART Domains |
Protein: ENSMUSP00000140011 Gene: ENSMUSG00000021843
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: 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: ENSMUST00000190535
|
SMART Domains |
Protein: ENSMUSP00000139952 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000139673 Gene: ENSMUSG00000021843
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
|
SMART Domains |
Protein: ENSMUSP00000139585 Gene: ENSMUSG00000021843
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921511C20Rik |
T |
A |
X: 127,395,054 |
S205R |
probably benign |
Het |
Adora3 |
A |
G |
3: 105,907,812 |
T293A |
probably benign |
Het |
App |
T |
C |
16: 85,025,420 |
|
probably null |
Het |
Asap1 |
A |
G |
15: 64,129,165 |
|
probably benign |
Het |
Brinp3 |
T |
A |
1: 146,902,032 |
V739E |
probably damaging |
Het |
Bsn |
A |
G |
9: 108,113,288 |
V1755A |
probably damaging |
Het |
Clmp |
A |
C |
9: 40,772,415 |
D147A |
probably damaging |
Het |
Cntn5 |
A |
T |
9: 10,145,338 |
C122* |
probably null |
Het |
Ctsb |
T |
G |
14: 63,138,410 |
C198G |
probably null |
Het |
Cyld |
A |
T |
8: 88,741,291 |
R702S |
probably damaging |
Het |
Cyp4v3 |
A |
G |
8: 45,320,637 |
V165A |
possibly damaging |
Het |
Dpy19l4 |
C |
A |
4: 11,309,440 |
V59F |
probably benign |
Het |
Eml1 |
A |
T |
12: 108,506,520 |
T196S |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,586,954 |
D22E |
probably damaging |
Het |
Gigyf2 |
A |
G |
1: 87,442,136 |
H1150R |
probably damaging |
Het |
Grk5 |
T |
G |
19: 61,069,371 |
F170V |
probably damaging |
Het |
Heatr5a |
A |
C |
12: 51,951,099 |
V339G |
possibly damaging |
Het |
Hgd |
T |
A |
16: 37,615,387 |
D153E |
possibly damaging |
Het |
Igdcc3 |
T |
A |
9: 65,180,188 |
L336Q |
probably damaging |
Het |
Jph2 |
T |
C |
2: 163,397,345 |
E61G |
probably damaging |
Het |
Lrch3 |
T |
A |
16: 33,005,714 |
D634E |
probably benign |
Het |
March6 |
T |
C |
15: 31,490,566 |
|
probably benign |
Het |
Misp |
T |
A |
10: 79,826,343 |
I198N |
probably benign |
Het |
Mmp14 |
C |
T |
14: 54,440,557 |
P545L |
probably benign |
Het |
Mon1b |
G |
T |
8: 113,638,823 |
R261L |
possibly damaging |
Het |
Muc5b |
T |
C |
7: 141,857,867 |
S1517P |
unknown |
Het |
Nae1 |
A |
T |
8: 104,511,209 |
N518K |
probably damaging |
Het |
Pglyrp4 |
A |
T |
3: 90,735,487 |
D225V |
probably benign |
Het |
Pgpep1 |
A |
G |
8: 70,652,469 |
I47T |
probably damaging |
Het |
Pip5k1c |
C |
A |
10: 81,317,321 |
|
probably null |
Het |
Pitpnc1 |
G |
A |
11: 107,296,233 |
T88I |
probably damaging |
Het |
Poldip2 |
T |
C |
11: 78,517,852 |
I181T |
probably damaging |
Het |
Ppfia2 |
T |
C |
10: 106,863,386 |
|
probably null |
Het |
Rasal1 |
A |
G |
5: 120,676,780 |
|
probably benign |
Het |
Rbms1 |
A |
G |
2: 60,759,779 |
Y305H |
probably benign |
Het |
Rnf123 |
A |
C |
9: 108,052,212 |
|
probably null |
Het |
Sec14l3 |
G |
A |
11: 4,076,237 |
|
probably benign |
Het |
Slc2a10 |
A |
C |
2: 165,515,080 |
D220A |
probably damaging |
Het |
Slc38a8 |
T |
C |
8: 119,485,561 |
T348A |
probably damaging |
Het |
Slc4a5 |
T |
C |
6: 83,299,505 |
V1104A |
probably benign |
Het |
Snrpe |
T |
C |
1: 133,608,966 |
|
probably benign |
Het |
Th |
C |
A |
7: 142,899,910 |
V18F |
probably damaging |
Het |
Ttc30b |
A |
G |
2: 75,937,903 |
Y169H |
probably benign |
Het |
Ubqln5 |
G |
A |
7: 104,129,072 |
Q182* |
probably null |
Het |
Unc5c |
T |
C |
3: 141,803,919 |
V646A |
probably damaging |
Het |
Wasf1 |
A |
G |
10: 40,936,132 |
N306D |
possibly damaging |
Het |
|
Other mutations in Ktn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01017:Ktn1
|
APN |
14 |
47708878 |
missense |
probably benign |
0.30 |
IGL01109:Ktn1
|
APN |
14 |
47714721 |
missense |
probably damaging |
1.00 |
IGL02300:Ktn1
|
APN |
14 |
47690060 |
missense |
probably damaging |
1.00 |
IGL02339:Ktn1
|
APN |
14 |
47683378 |
splice site |
probably benign |
|
IGL02525:Ktn1
|
APN |
14 |
47724743 |
critical splice donor site |
probably null |
|
IGL02678:Ktn1
|
APN |
14 |
47734153 |
critical splice acceptor site |
probably null |
|
IGL03181:Ktn1
|
APN |
14 |
47733284 |
missense |
probably benign |
0.19 |
IGL03393:Ktn1
|
APN |
14 |
47690934 |
missense |
probably damaging |
1.00 |
PIT4520001:Ktn1
|
UTSW |
14 |
47686317 |
missense |
probably damaging |
0.96 |
R0035:Ktn1
|
UTSW |
14 |
47730379 |
missense |
probably benign |
0.07 |
R0035:Ktn1
|
UTSW |
14 |
47730379 |
missense |
probably benign |
0.07 |
R0270:Ktn1
|
UTSW |
14 |
47714662 |
missense |
probably benign |
0.00 |
R0370:Ktn1
|
UTSW |
14 |
47664075 |
missense |
probably benign |
0.00 |
R0371:Ktn1
|
UTSW |
14 |
47724003 |
nonsense |
probably null |
|
R0530:Ktn1
|
UTSW |
14 |
47733243 |
missense |
probably benign |
0.14 |
R0531:Ktn1
|
UTSW |
14 |
47663941 |
missense |
probably damaging |
0.98 |
R0611:Ktn1
|
UTSW |
14 |
47694616 |
missense |
probably benign |
|
R0836:Ktn1
|
UTSW |
14 |
47701062 |
splice site |
probably null |
|
R1076:Ktn1
|
UTSW |
14 |
47694638 |
missense |
probably damaging |
0.99 |
R1522:Ktn1
|
UTSW |
14 |
47667416 |
missense |
probably damaging |
1.00 |
R1554:Ktn1
|
UTSW |
14 |
47695507 |
missense |
probably damaging |
1.00 |
R1992:Ktn1
|
UTSW |
14 |
47695521 |
missense |
probably damaging |
1.00 |
R2040:Ktn1
|
UTSW |
14 |
47700612 |
splice site |
probably benign |
|
R2080:Ktn1
|
UTSW |
14 |
47725960 |
missense |
probably damaging |
1.00 |
R2110:Ktn1
|
UTSW |
14 |
47693888 |
missense |
possibly damaging |
0.47 |
R2144:Ktn1
|
UTSW |
14 |
47714652 |
missense |
probably damaging |
1.00 |
R3730:Ktn1
|
UTSW |
14 |
47701149 |
missense |
probably damaging |
1.00 |
R3780:Ktn1
|
UTSW |
14 |
47706403 |
splice site |
probably benign |
|
R3782:Ktn1
|
UTSW |
14 |
47706403 |
splice site |
probably benign |
|
R4414:Ktn1
|
UTSW |
14 |
47724930 |
nonsense |
probably null |
|
R4610:Ktn1
|
UTSW |
14 |
47726179 |
intron |
probably benign |
|
R4784:Ktn1
|
UTSW |
14 |
47693496 |
critical splice donor site |
probably null |
|
R4838:Ktn1
|
UTSW |
14 |
47725956 |
nonsense |
probably null |
|
R4909:Ktn1
|
UTSW |
14 |
47706460 |
missense |
probably damaging |
0.99 |
R4976:Ktn1
|
UTSW |
14 |
47670299 |
critical splice donor site |
probably null |
|
R5110:Ktn1
|
UTSW |
14 |
47704287 |
splice site |
probably benign |
|
R5257:Ktn1
|
UTSW |
14 |
47667363 |
missense |
probably benign |
0.05 |
R5469:Ktn1
|
UTSW |
14 |
47690920 |
missense |
probably damaging |
1.00 |
R5600:Ktn1
|
UTSW |
14 |
47690033 |
missense |
probably damaging |
1.00 |
R5607:Ktn1
|
UTSW |
14 |
47734097 |
intron |
probably benign |
|
R5608:Ktn1
|
UTSW |
14 |
47734097 |
intron |
probably benign |
|
R5920:Ktn1
|
UTSW |
14 |
47724024 |
nonsense |
probably null |
|
R6045:Ktn1
|
UTSW |
14 |
47676796 |
missense |
probably damaging |
1.00 |
R6139:Ktn1
|
UTSW |
14 |
47726215 |
splice site |
probably null |
|
R6282:Ktn1
|
UTSW |
14 |
47663971 |
missense |
probably damaging |
1.00 |
R6654:Ktn1
|
UTSW |
14 |
47690000 |
missense |
probably damaging |
1.00 |
R6957:Ktn1
|
UTSW |
14 |
47667353 |
nonsense |
probably null |
|
R6959:Ktn1
|
UTSW |
14 |
47720256 |
missense |
probably damaging |
1.00 |
R7170:Ktn1
|
UTSW |
14 |
47706410 |
missense |
probably damaging |
1.00 |
R7206:Ktn1
|
UTSW |
14 |
47695528 |
missense |
probably damaging |
0.97 |
R7442:Ktn1
|
UTSW |
14 |
47714640 |
missense |
probably benign |
0.01 |
R7462:Ktn1
|
UTSW |
14 |
47694632 |
missense |
probably null |
1.00 |
R7513:Ktn1
|
UTSW |
14 |
47664084 |
missense |
possibly damaging |
0.77 |
R7743:Ktn1
|
UTSW |
14 |
47670293 |
missense |
probably damaging |
1.00 |
R8010:Ktn1
|
UTSW |
14 |
47705773 |
missense |
possibly damaging |
0.60 |
R8062:Ktn1
|
UTSW |
14 |
47724972 |
critical splice donor site |
probably null |
|
R8244:Ktn1
|
UTSW |
14 |
47674823 |
missense |
probably null |
1.00 |
R8387:Ktn1
|
UTSW |
14 |
47707287 |
splice site |
probably null |
|
Z1177:Ktn1
|
UTSW |
14 |
47692438 |
critical splice acceptor site |
probably null |
|
|
Posted On | 2015-04-16 |