Incidental Mutation 'IGL02433:Krt31'
| ID |
293181 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt31
|
| Ensembl Gene |
ENSMUSG00000048981 |
| Gene Name |
keratin 31 |
| Synonyms |
Kha1, Ha1, MKHA-1, Krt1-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02433
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
99937472-99941377 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99939221 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 232
(Y232C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007318
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007318]
|
| AlphaFold |
Q61765 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000007318
AA Change: Y232C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000007318
Gene: ENSMUSG00000048981
AA Change: Y232C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Filament
|
55 |
366 |
2.14e-153 |
SMART |
|
low complexity region
|
384 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136820
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bche |
T |
C |
3: 73,609,262 (GRCm39) |
T55A |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,804,372 (GRCm39) |
D634G |
unknown |
Het |
| Cnot2 |
T |
C |
10: 116,328,241 (GRCm39) |
T498A |
possibly damaging |
Het |
| Dock10 |
C |
T |
1: 80,507,905 (GRCm39) |
V1669M |
probably damaging |
Het |
| Emilin2 |
T |
C |
17: 71,581,124 (GRCm39) |
E534G |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,521,400 (GRCm39) |
R440H |
probably benign |
Het |
| Gm10073 |
T |
C |
8: 107,299,951 (GRCm39) |
Y11C |
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,514 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
G |
A |
15: 91,756,694 (GRCm39) |
|
noncoding transcript |
Het |
| Myof |
A |
G |
19: 37,960,641 (GRCm39) |
S467P |
probably benign |
Het |
| Nup88 |
C |
T |
11: 70,860,714 (GRCm39) |
V22I |
probably benign |
Het |
| Or4f14 |
G |
T |
2: 111,742,762 (GRCm39) |
P171Q |
probably damaging |
Het |
| Or6c6c |
A |
T |
10: 129,541,445 (GRCm39) |
T233S |
probably benign |
Het |
| Or8h9 |
A |
G |
2: 86,789,392 (GRCm39) |
S137P |
possibly damaging |
Het |
| Prag1 |
C |
T |
8: 36,606,722 (GRCm39) |
P821L |
probably damaging |
Het |
| Pramel22 |
C |
T |
4: 143,382,007 (GRCm39) |
G230S |
possibly damaging |
Het |
| Tap2 |
G |
A |
17: 34,424,393 (GRCm39) |
|
probably benign |
Het |
| Tmem68 |
A |
T |
4: 3,569,624 (GRCm39) |
I22N |
possibly damaging |
Het |
| Usp17le |
A |
G |
7: 104,418,408 (GRCm39) |
W245R |
probably benign |
Het |
| Xpo5 |
G |
T |
17: 46,550,446 (GRCm39) |
C976F |
probably damaging |
Het |
| Xrcc1 |
T |
C |
7: 24,264,979 (GRCm39) |
S94P |
possibly damaging |
Het |
| Zfp524 |
T |
A |
7: 5,021,091 (GRCm39) |
N206K |
possibly damaging |
Het |
|
| Other mutations in Krt31 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02313:Krt31
|
APN |
11 |
99,939,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0393:Krt31
|
UTSW |
11 |
99,941,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0667:Krt31
|
UTSW |
11 |
99,938,951 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1224:Krt31
|
UTSW |
11 |
99,940,690 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1544:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1891:Krt31
|
UTSW |
11 |
99,938,634 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1940:Krt31
|
UTSW |
11 |
99,939,069 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1987:Krt31
|
UTSW |
11 |
99,940,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2761:Krt31
|
UTSW |
11 |
99,938,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2870:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2870:Krt31
|
UTSW |
11 |
99,938,699 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3980:Krt31
|
UTSW |
11 |
99,939,030 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4809:Krt31
|
UTSW |
11 |
99,940,748 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4822:Krt31
|
UTSW |
11 |
99,938,610 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4931:Krt31
|
UTSW |
11 |
99,940,983 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6146:Krt31
|
UTSW |
11 |
99,939,056 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6722:Krt31
|
UTSW |
11 |
99,939,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6811:Krt31
|
UTSW |
11 |
99,939,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6996:Krt31
|
UTSW |
11 |
99,938,558 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7300:Krt31
|
UTSW |
11 |
99,938,612 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7548:Krt31
|
UTSW |
11 |
99,940,346 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8375:Krt31
|
UTSW |
11 |
99,938,603 (GRCm39) |
missense |
probably benign |
0.10 |
|
X0028:Krt31
|
UTSW |
11 |
99,938,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation