Incidental Mutation 'IGL03076:Krt71'
| ID |
417700 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krt71
|
| Ensembl Gene |
ENSMUSG00000051879 |
| Gene Name |
keratin 71 |
| Synonyms |
mK6irs, Cal4, Krt2-6g, Ca, Cu, mK6irs1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.131)
|
| Stock # |
IGL03076
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101642384-101651532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 101643032 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 492
(R492H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023710]
|
| AlphaFold |
Q9R0H5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023710
AA Change: R492H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: R492H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
55 |
N/A |
INTRINSIC |
|
Pfam:Keratin_2_head
|
59 |
127 |
1.6e-20 |
PFAM |
|
Filament
|
130 |
443 |
1.19e-151 |
SMART |
|
low complexity region
|
449 |
465 |
N/A |
INTRINSIC |
|
| 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. This gene encodes a protein that is expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q13.[provided by RefSeq, Jun 2009]
PHENOTYPE: Mutations in this gene result in waved hair and curly vibrissae. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy2 |
T |
C |
12: 36,215,917 (GRCm39) |
V39A |
probably damaging |
Het |
| Bcl2 |
A |
G |
1: 106,471,037 (GRCm39) |
V223A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,982,581 (GRCm39) |
Y3724F |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,463,619 (GRCm39) |
|
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,535,299 (GRCm39) |
V87A |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,807,226 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,624,327 (GRCm39) |
R3652W |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,549 (GRCm39) |
T152S |
probably damaging |
Het |
| Flnb |
T |
G |
14: 7,901,988 (GRCm38) |
N950K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,414,437 (GRCm39) |
D1128G |
probably damaging |
Het |
| Fndc3a |
T |
A |
14: 72,793,908 (GRCm39) |
T922S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,482 (GRCm39) |
N2934Y |
possibly damaging |
Het |
| Gnptab |
T |
C |
10: 88,276,151 (GRCm39) |
V1146A |
possibly damaging |
Het |
| Gsg1l |
A |
G |
7: 125,522,665 (GRCm39) |
F188L |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,504,149 (GRCm39) |
E309* |
probably null |
Het |
| Lama1 |
T |
A |
17: 68,023,794 (GRCm39) |
V63E |
possibly damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrrc8b |
T |
A |
5: 105,629,415 (GRCm39) |
L587Q |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,568 (GRCm39) |
C342R |
probably damaging |
Het |
| Mdm1 |
T |
C |
10: 117,995,588 (GRCm39) |
S541P |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,735,564 (GRCm39) |
V3410D |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or7e175 |
T |
C |
9: 20,049,023 (GRCm39) |
S204P |
probably benign |
Het |
| Pigt |
A |
G |
2: 164,339,585 (GRCm39) |
E36G |
probably damaging |
Het |
| Plxnb1 |
T |
A |
9: 108,935,970 (GRCm39) |
V1120D |
probably damaging |
Het |
| Rapgef6 |
T |
C |
11: 54,516,793 (GRCm39) |
L350P |
probably damaging |
Het |
| Rasgef1c |
C |
A |
11: 49,861,073 (GRCm39) |
T302K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,311,575 (GRCm39) |
A386D |
possibly damaging |
Het |
| Semp2l1 |
A |
G |
1: 32,584,626 (GRCm39) |
I428T |
probably damaging |
Het |
| Slc12a2 |
T |
C |
18: 58,059,469 (GRCm39) |
|
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,942,567 (GRCm39) |
S992R |
probably damaging |
Het |
| Trpc3 |
T |
C |
3: 36,694,804 (GRCm39) |
N717D |
probably damaging |
Het |
| Vwa5b1 |
T |
C |
4: 138,327,499 (GRCm39) |
D359G |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,046 (GRCm39) |
T303A |
probably benign |
Het |
| Zfp128 |
A |
G |
7: 12,618,636 (GRCm39) |
T45A |
possibly damaging |
Het |
| Zfp280d |
T |
C |
9: 72,219,944 (GRCm39) |
S240P |
probably damaging |
Het |
|
| Other mutations in Krt71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01024:Krt71
|
APN |
15 |
101,645,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03390:Krt71
|
APN |
15 |
101,642,987 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0040:Krt71
|
UTSW |
15 |
101,646,868 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0040:Krt71
|
UTSW |
15 |
101,646,868 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0041:Krt71
|
UTSW |
15 |
101,647,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0153:Krt71
|
UTSW |
15 |
101,643,141 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0376:Krt71
|
UTSW |
15 |
101,646,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0932:Krt71
|
UTSW |
15 |
101,645,195 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1263:Krt71
|
UTSW |
15 |
101,643,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Krt71
|
UTSW |
15 |
101,647,199 (GRCm39) |
splice site |
probably null |
|
|
R1796:Krt71
|
UTSW |
15 |
101,651,315 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1954:Krt71
|
UTSW |
15 |
101,643,901 (GRCm39) |
nonsense |
probably null |
|
|
R3001:Krt71
|
UTSW |
15 |
101,648,906 (GRCm39) |
splice site |
probably benign |
|
|
R3793:Krt71
|
UTSW |
15 |
101,651,345 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4236:Krt71
|
UTSW |
15 |
101,643,129 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4751:Krt71
|
UTSW |
15 |
101,643,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6445:Krt71
|
UTSW |
15 |
101,648,775 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7034:Krt71
|
UTSW |
15 |
101,646,772 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7036:Krt71
|
UTSW |
15 |
101,646,772 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7378:Krt71
|
UTSW |
15 |
101,646,764 (GRCm39) |
nonsense |
probably null |
|
|
R7942:Krt71
|
UTSW |
15 |
101,643,894 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7961:Krt71
|
UTSW |
15 |
101,643,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8026:Krt71
|
UTSW |
15 |
101,646,817 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8131:Krt71
|
UTSW |
15 |
101,643,141 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8943:Krt71
|
UTSW |
15 |
101,645,180 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9017:Krt71
|
UTSW |
15 |
101,651,100 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9417:Krt71
|
UTSW |
15 |
101,646,731 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9632:Krt71
|
UTSW |
15 |
101,644,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9763:Krt71
|
UTSW |
15 |
101,646,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Krt71
|
UTSW |
15 |
101,645,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation