Incidental Mutation 'R0920:Krt76'
ID |
82833 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt76
|
Ensembl Gene |
ENSMUSG00000075402 |
Gene Name |
keratin 76 |
Synonyms |
2310001L23Rik |
MMRRC Submission |
039070-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0920 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101792786-101801355 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101800874 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 141
(T141A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100179]
|
AlphaFold |
Q3UV17 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100179
AA Change: T141A
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000097754 Gene: ENSMUSG00000075402 AA Change: T141A
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
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (37/37) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm2 |
T |
C |
4: 144,287,696 (GRCm39) |
|
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,911,680 (GRCm39) |
|
probably benign |
Het |
Adgra3 |
A |
G |
5: 50,118,503 (GRCm39) |
V1015A |
probably benign |
Het |
Armc5 |
G |
T |
7: 127,839,491 (GRCm39) |
A270S |
probably damaging |
Het |
Cacng1 |
A |
C |
11: 107,596,682 (GRCm39) |
|
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,940,955 (GRCm39) |
D429G |
probably damaging |
Het |
Ccdc88b |
G |
T |
19: 6,824,017 (GRCm39) |
A1412E |
probably benign |
Het |
Cfap298 |
C |
T |
16: 90,724,267 (GRCm39) |
E125K |
probably damaging |
Het |
Clock |
A |
T |
5: 76,378,167 (GRCm39) |
S578T |
possibly damaging |
Het |
Crp |
T |
C |
1: 172,526,089 (GRCm39) |
F58S |
probably damaging |
Het |
Dlg5 |
T |
A |
14: 24,226,465 (GRCm39) |
Q125L |
probably damaging |
Het |
Eif3i |
T |
C |
4: 129,489,050 (GRCm39) |
|
probably benign |
Het |
Gucy1a2 |
A |
C |
9: 3,759,472 (GRCm39) |
D426A |
probably damaging |
Het |
Hpcal1 |
C |
T |
12: 17,841,098 (GRCm39) |
|
probably benign |
Het |
Inf2 |
T |
A |
12: 112,576,721 (GRCm39) |
|
probably benign |
Het |
Kdm7a |
A |
G |
6: 39,128,256 (GRCm39) |
L525P |
probably damaging |
Het |
Kirrel3 |
A |
T |
9: 34,939,648 (GRCm39) |
I152F |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,900,309 (GRCm39) |
I670K |
probably benign |
Het |
Ldb3 |
T |
C |
14: 34,289,460 (GRCm39) |
T249A |
probably benign |
Het |
Magi3 |
A |
T |
3: 103,941,507 (GRCm39) |
|
probably null |
Het |
Mfn1 |
A |
G |
3: 32,588,385 (GRCm39) |
|
probably null |
Het |
Myb |
G |
T |
10: 21,002,133 (GRCm39) |
T736K |
possibly damaging |
Het |
Myo5b |
A |
C |
18: 74,758,712 (GRCm39) |
K231T |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,936,138 (GRCm39) |
C909S |
unknown |
Het |
Npas4 |
C |
A |
19: 5,036,344 (GRCm39) |
E607* |
probably null |
Het |
Nphp3 |
A |
G |
9: 103,909,106 (GRCm39) |
N772S |
probably benign |
Het |
Nup88 |
G |
T |
11: 70,847,146 (GRCm39) |
P288Q |
possibly damaging |
Het |
Or2l13 |
A |
T |
16: 19,305,680 (GRCm39) |
I31F |
probably benign |
Het |
Pknox1 |
C |
A |
17: 31,815,865 (GRCm39) |
Q240K |
probably damaging |
Het |
Plce1 |
A |
C |
19: 38,724,965 (GRCm39) |
T1439P |
probably damaging |
Het |
Ppp1r42 |
T |
A |
1: 10,069,750 (GRCm39) |
N104I |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,596,496 (GRCm39) |
|
probably benign |
Het |
Stox2 |
C |
T |
8: 47,646,053 (GRCm39) |
R469Q |
probably damaging |
Het |
Syna |
A |
G |
5: 134,587,956 (GRCm39) |
V331A |
probably benign |
Het |
Vmn1r58 |
A |
T |
7: 5,413,788 (GRCm39) |
N147K |
probably benign |
Het |
Zdhhc6 |
A |
T |
19: 55,300,133 (GRCm39) |
L148H |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCATCCCAAGATGTGTGCAAG -3'
(R):5'- AAGAGTATTTCTATCAGCGTGGCGG -3'
Sequencing Primer
(F):5'- AGGTGTTCTCAGTATCCTGGAAAC -3'
(R):5'- CTTCAGTGGAGGGCGTAGC -3'
|
Posted On |
2013-11-08 |