Incidental Mutation 'IGL03164:Krt76'
ID |
411544 |
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 # |
IGL03164
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
101792786-101801355 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101795886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 428
(D428G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100179]
|
AlphaFold |
Q3UV17 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100179
AA Change: D428G
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000097754 Gene: ENSMUSG00000075402 AA Change: D428G
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
Cd19 |
C |
A |
7: 126,012,681 (GRCm39) |
M237I |
possibly damaging |
Het |
Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
Ctnnbl1 |
A |
C |
2: 157,659,681 (GRCm39) |
M253L |
probably benign |
Het |
Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
Gjd3 |
T |
A |
11: 102,691,547 (GRCm39) |
N152I |
possibly damaging |
Het |
Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
Nlrp5 |
T |
A |
7: 23,117,798 (GRCm39) |
Y507* |
probably null |
Het |
Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
Otop1 |
G |
T |
5: 38,445,306 (GRCm39) |
G155* |
probably null |
Het |
Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,862,958 (GRCm39) |
F467L |
possibly damaging |
Het |
Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
Slco2b1 |
C |
T |
7: 99,334,743 (GRCm39) |
A243T |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
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 |
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 |
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 |
2016-08-02 |