Incidental Mutation 'IGL01504:Krt76'
| ID |
88990 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt76
|
| Ensembl Gene |
ENSMUSG00000075402 |
| Gene Name |
keratin 76 |
| Synonyms |
2310001L23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101792786-101801355 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101796608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 400
(E400G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100179]
|
| AlphaFold |
Q3UV17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100179
AA Change: E400G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: E400G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Keratin_2_head
|
16 |
161 |
5.7e-39 |
PFAM |
|
Filament
|
164 |
479 |
2.12e-166 |
SMART |
|
low complexity region
|
488 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196731
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
T |
8: 87,284,231 (GRCm39) |
I326N |
probably damaging |
Het |
| Acot6 |
G |
A |
12: 84,156,176 (GRCm39) |
V375M |
probably benign |
Het |
| Als2cl |
G |
A |
9: 110,718,351 (GRCm39) |
R364Q |
probably benign |
Het |
| Cpa1 |
A |
T |
6: 30,640,720 (GRCm39) |
T121S |
probably benign |
Het |
| Ctnnbl1 |
A |
G |
2: 157,660,036 (GRCm39) |
|
probably benign |
Het |
| Frrs1 |
C |
A |
3: 116,694,307 (GRCm39) |
Q76K |
probably damaging |
Het |
| Gja10 |
T |
A |
4: 32,602,375 (GRCm39) |
D3V |
probably damaging |
Het |
| Insyn2a |
T |
A |
7: 134,519,669 (GRCm39) |
Q287L |
probably benign |
Het |
| Mdm1 |
A |
G |
10: 117,982,505 (GRCm39) |
T47A |
probably damaging |
Het |
| Ncf2 |
A |
G |
1: 152,709,080 (GRCm39) |
K336R |
probably benign |
Het |
| Ndrg4 |
C |
A |
8: 96,432,894 (GRCm39) |
L34I |
probably damaging |
Het |
| Phf20l1 |
T |
A |
15: 66,469,540 (GRCm39) |
H148Q |
possibly damaging |
Het |
| Rhobtb1 |
A |
G |
10: 69,085,528 (GRCm39) |
H89R |
probably damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,724,160 (GRCm39) |
N266D |
probably damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,472,189 (GRCm39) |
S129P |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,202,612 (GRCm39) |
E1659G |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,952,443 (GRCm39) |
I863L |
possibly damaging |
Het |
| Vmn1r177 |
C |
T |
7: 23,565,835 (GRCm39) |
V14M |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,369,285 (GRCm39) |
M96K |
probably benign |
Het |
| Zp1 |
C |
T |
19: 10,896,375 (GRCm39) |
V117M |
probably damaging |
Het |
|
| Other mutations in Krt76 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01325:Krt76
|
APN |
15 |
101,793,323 (GRCm39) |
missense |
unknown |
|
|
IGL01475:Krt76
|
APN |
15 |
101,796,948 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01506:Krt76
|
APN |
15 |
101,800,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01943:Krt76
|
APN |
15 |
101,797,480 (GRCm39) |
missense |
probably null |
0.98 |
|
IGL03164:Krt76
|
APN |
15 |
101,795,886 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
PIT4378001:Krt76
|
UTSW |
15 |
101,800,842 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0105:Krt76
|
UTSW |
15 |
101,793,347 (GRCm39) |
missense |
unknown |
|
|
R0105:Krt76
|
UTSW |
15 |
101,793,347 (GRCm39) |
missense |
unknown |
|
|
R0448:Krt76
|
UTSW |
15 |
101,799,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Krt76
|
UTSW |
15 |
101,795,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0920:Krt76
|
UTSW |
15 |
101,800,874 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1568:Krt76
|
UTSW |
15 |
101,793,443 (GRCm39) |
missense |
unknown |
|
|
R1779:Krt76
|
UTSW |
15 |
101,801,122 (GRCm39) |
missense |
unknown |
|
|
R1869:Krt76
|
UTSW |
15 |
101,797,922 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1911:Krt76
|
UTSW |
15 |
101,796,600 (GRCm39) |
nonsense |
probably null |
|
|
R2160:Krt76
|
UTSW |
15 |
101,796,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2504:Krt76
|
UTSW |
15 |
101,793,293 (GRCm39) |
missense |
unknown |
|
|
R4487:Krt76
|
UTSW |
15 |
101,798,917 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4729:Krt76
|
UTSW |
15 |
101,797,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Krt76
|
UTSW |
15 |
101,794,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4912:Krt76
|
UTSW |
15 |
101,796,597 (GRCm39) |
nonsense |
probably null |
|
|
R5357:Krt76
|
UTSW |
15 |
101,795,820 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6738:Krt76
|
UTSW |
15 |
101,795,913 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7786:Krt76
|
UTSW |
15 |
101,798,965 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7808:Krt76
|
UTSW |
15 |
101,798,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7825:Krt76
|
UTSW |
15 |
101,795,938 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8079:Krt76
|
UTSW |
15 |
101,796,825 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8846:Krt76
|
UTSW |
15 |
101,795,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8980:Krt76
|
UTSW |
15 |
101,800,990 (GRCm39) |
missense |
unknown |
|
|
Z1088:Krt76
|
UTSW |
15 |
101,798,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation