Incidental Mutation 'R4487:Krt76'
ID |
371140 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt76
|
Ensembl Gene |
ENSMUSG00000075402 |
Gene Name |
keratin 76 |
Synonyms |
2310001L23Rik |
MMRRC Submission |
041743-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4487 (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 101798917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 256
(K256R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000097754
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000100179]
|
AlphaFold |
Q3UV17 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000100179
AA Change: K256R
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000097754 Gene: ENSMUSG00000075402 AA Change: K256R
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 |
0.0931 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (41/41) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310030G06Rik |
A |
G |
9: 50,651,931 (GRCm39) |
L99P |
probably damaging |
Het |
Abcd2 |
A |
G |
15: 91,062,486 (GRCm39) |
V484A |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,588,185 (GRCm39) |
I4467T |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,892,622 (GRCm39) |
D1500E |
possibly damaging |
Het |
C1ql2 |
A |
T |
1: 120,269,409 (GRCm39) |
Y188F |
possibly damaging |
Het |
Cnga2 |
T |
A |
X: 71,049,733 (GRCm39) |
F133I |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,801,512 (GRCm39) |
S891P |
probably benign |
Het |
Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
Htr1b |
A |
T |
9: 81,513,592 (GRCm39) |
D338E |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Kif9 |
A |
G |
9: 110,323,552 (GRCm39) |
E225G |
probably null |
Het |
Mapk4 |
T |
C |
18: 74,064,046 (GRCm39) |
D392G |
probably damaging |
Het |
Mthfr |
A |
G |
4: 148,135,884 (GRCm39) |
K278R |
probably benign |
Het |
Mup4 |
T |
A |
4: 59,960,547 (GRCm39) |
E18V |
probably damaging |
Het |
Nepro |
A |
G |
16: 44,556,089 (GRCm39) |
K416E |
probably damaging |
Het |
Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
Nmu |
A |
G |
5: 76,491,909 (GRCm39) |
|
probably null |
Het |
Nt5m |
A |
G |
11: 59,739,173 (GRCm39) |
Y73C |
probably damaging |
Het |
Oaz3 |
A |
T |
3: 94,342,437 (GRCm39) |
|
probably null |
Het |
Pgap1 |
A |
G |
1: 54,567,751 (GRCm39) |
S365P |
probably benign |
Het |
Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
Pus7l |
A |
G |
15: 94,429,498 (GRCm39) |
I440T |
possibly damaging |
Het |
Raph1 |
C |
T |
1: 60,542,028 (GRCm39) |
S362N |
possibly damaging |
Het |
Rftn2 |
A |
G |
1: 55,241,311 (GRCm39) |
Y330H |
possibly damaging |
Het |
Rhot2 |
G |
A |
17: 26,058,467 (GRCm39) |
H580Y |
probably benign |
Het |
Rnase2a |
A |
T |
14: 51,493,302 (GRCm39) |
M21K |
unknown |
Het |
Rusf1 |
T |
C |
7: 127,887,530 (GRCm39) |
D24G |
probably damaging |
Het |
Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
Snx1 |
A |
T |
9: 65,996,877 (GRCm39) |
V459E |
possibly damaging |
Het |
Suz12 |
A |
G |
11: 79,922,939 (GRCm39) |
T694A |
probably benign |
Het |
Tg |
G |
A |
15: 66,543,245 (GRCm39) |
C53Y |
probably damaging |
Het |
Tor1aip1 |
G |
T |
1: 155,882,870 (GRCm39) |
T326K |
probably damaging |
Het |
Vmn1r61 |
C |
A |
7: 5,613,924 (GRCm39) |
C130F |
possibly damaging |
Het |
Xlr5b |
T |
C |
X: 72,201,504 (GRCm39) |
|
probably null |
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 |
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 |
|
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'- TCTCAGGAAATCCTCTTGCTCATG -3'
(R):5'- CAGAACAAGGTCCTGGAGAC -3'
Sequencing Primer
(F):5'- CTCATGTGAGCTGATGTAGGAG -3'
(R):5'- ACCAAGTGGGAGCTGCTG -3'
|
Posted On |
2016-02-25 |