Incidental Mutation 'IGL01506:Krt76'
| ID |
89068 |
| 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 # |
IGL01506
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101792786-101801355 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101800835 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 154
(I154V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097754
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100179]
|
| AlphaFold |
Q3UV17 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000100179
AA Change: I154V
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: I154V
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,247,447 (GRCm39) |
V2398A |
probably benign |
Het |
| Abhd2 |
T |
A |
7: 78,975,200 (GRCm39) |
I130N |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,833,430 (GRCm39) |
I35N |
probably benign |
Het |
| Car8 |
T |
A |
4: 8,169,761 (GRCm39) |
E249V |
probably damaging |
Het |
| Dpp8 |
A |
G |
9: 64,970,699 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
G |
3: 107,892,559 (GRCm39) |
|
probably null |
Het |
| Kcnmb4 |
A |
G |
10: 116,309,251 (GRCm39) |
V59A |
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,092,065 (GRCm39) |
R1646H |
probably benign |
Het |
| Larp1b |
C |
A |
3: 40,987,875 (GRCm39) |
Y32* |
probably null |
Het |
| Magea4 |
G |
A |
X: 71,266,376 (GRCm39) |
D252N |
probably damaging |
Het |
| Mat1a |
C |
A |
14: 40,831,395 (GRCm39) |
A41E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,137,202 (GRCm39) |
V3190E |
probably damaging |
Het |
| Nop53 |
G |
A |
7: 15,674,082 (GRCm39) |
P249L |
probably damaging |
Het |
| Or8b44 |
A |
G |
9: 38,410,171 (GRCm39) |
I69V |
probably benign |
Het |
| Osbpl7 |
T |
C |
11: 96,943,126 (GRCm39) |
L126P |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,470 (GRCm39) |
L382Q |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,802 (GRCm39) |
T403I |
probably benign |
Het |
| Slc44a2 |
T |
C |
9: 21,249,246 (GRCm39) |
Y9H |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,624 (GRCm39) |
|
probably benign |
Het |
| Son |
A |
T |
16: 91,454,174 (GRCm39) |
I974L |
possibly damaging |
Het |
| Stil |
T |
C |
4: 114,881,309 (GRCm39) |
S618P |
probably benign |
Het |
| Syndig1 |
C |
T |
2: 149,741,677 (GRCm39) |
R88C |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,893,329 (GRCm39) |
F944L |
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 |
|
IGL01504:Krt76
|
APN |
15 |
101,796,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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