Incidental Mutation 'IGL03390:Krt71'
| ID |
421035 |
| 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 # |
IGL03390
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
101642384-101651532 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101642987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 507
(D507G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023710]
|
| AlphaFold |
Q9R0H5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023710
AA Change: D507G
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: D507G
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
A |
G |
8: 125,566,564 (GRCm39) |
|
probably benign |
Het |
| Ccdc18 |
A |
G |
5: 108,359,997 (GRCm39) |
Y1127C |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,524,863 (GRCm39) |
L134* |
probably null |
Het |
| Col11a1 |
A |
G |
3: 113,883,902 (GRCm39) |
D257G |
unknown |
Het |
| Cthrc1 |
T |
A |
15: 38,940,529 (GRCm39) |
I44N |
probably benign |
Het |
| Dlec1 |
T |
C |
9: 118,952,288 (GRCm39) |
Y545H |
probably benign |
Het |
| Drosha |
T |
G |
15: 12,885,069 (GRCm39) |
|
probably null |
Het |
| Ebf2 |
A |
G |
14: 67,661,558 (GRCm39) |
N562S |
probably benign |
Het |
| Fem1b |
G |
A |
9: 62,704,246 (GRCm39) |
A338V |
probably benign |
Het |
| Gga3 |
A |
T |
11: 115,477,820 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
A |
T |
14: 51,760,914 (GRCm39) |
H161L |
probably benign |
Het |
| Gm7367 |
A |
G |
7: 59,805,517 (GRCm39) |
|
noncoding transcript |
Het |
| Inpp5a |
T |
G |
7: 139,105,664 (GRCm39) |
V213G |
probably benign |
Het |
| Kcns3 |
T |
C |
12: 11,141,233 (GRCm39) |
T489A |
probably benign |
Het |
| Kifc3 |
G |
A |
8: 95,835,241 (GRCm39) |
A211V |
probably damaging |
Het |
| Lama5 |
T |
C |
2: 179,849,011 (GRCm39) |
Y224C |
probably damaging |
Het |
| Lrrc37a |
A |
G |
11: 103,386,857 (GRCm39) |
L2421P |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,689,894 (GRCm39) |
T205I |
probably benign |
Het |
| Or1o11 |
T |
C |
17: 37,757,255 (GRCm39) |
V281A |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,488,490 (GRCm39) |
C537* |
probably null |
Het |
| Prl2a1 |
T |
C |
13: 27,985,699 (GRCm39) |
V5A |
probably benign |
Het |
| Prob1 |
T |
C |
18: 35,787,192 (GRCm39) |
Y354C |
probably benign |
Het |
| Rimklb |
C |
T |
6: 122,433,280 (GRCm39) |
S347N |
possibly damaging |
Het |
| Rnase2a |
T |
C |
14: 51,492,945 (GRCm39) |
D140G |
probably damaging |
Het |
| Ryr2 |
G |
A |
13: 11,787,302 (GRCm39) |
P1017S |
probably benign |
Het |
| Slc3a1 |
A |
G |
17: 85,340,205 (GRCm39) |
D209G |
probably damaging |
Het |
| Sntn |
T |
A |
14: 13,682,205 (GRCm38) |
|
probably benign |
Het |
| Tal2 |
G |
T |
4: 53,785,994 (GRCm39) |
L58F |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,571,463 (GRCm39) |
K432E |
probably damaging |
Het |
| Trmt5 |
A |
T |
12: 73,329,501 (GRCm39) |
M219K |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,182,767 (GRCm39) |
I311L |
possibly damaging |
Het |
| Wfdc17 |
A |
T |
11: 83,595,611 (GRCm39) |
|
probably benign |
Het |
| Zbtb6 |
T |
G |
2: 37,319,584 (GRCm39) |
I115L |
probably damaging |
Het |
| Zfp750 |
A |
T |
11: 121,402,770 (GRCm39) |
C659* |
probably null |
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 |
|
IGL03076:Krt71
|
APN |
15 |
101,643,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
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