Incidental Mutation 'R4236:Krt71'
ID |
321149 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt71
|
Ensembl Gene |
ENSMUSG00000051879 |
Gene Name |
keratin 71 |
Synonyms |
mK6irs, Cal4, Krt2-6g, Ca, Cu, mK6irs1 |
MMRRC Submission |
041053-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.131)
|
Stock # |
R4236 (G1)
|
Quality Score |
184 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101642384-101651532 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101643129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 460
(T460A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023710]
|
AlphaFold |
Q9R0H5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023710
AA Change: T460A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000023710 Gene: ENSMUSG00000051879 AA Change: T460A
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 |
|
Meta Mutation Damage Score |
0.1041 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
96% (49/51) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
Abca13 |
A |
T |
11: 9,206,205 (GRCm39) |
K168N |
probably damaging |
Het |
Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
Cela1 |
T |
C |
15: 100,580,794 (GRCm39) |
Y91C |
probably damaging |
Het |
Chrnb3 |
C |
A |
8: 27,884,021 (GRCm39) |
L253M |
probably damaging |
Het |
Col24a1 |
G |
T |
3: 145,230,037 (GRCm39) |
G1493* |
probably null |
Het |
Dnah7a |
C |
T |
1: 53,486,524 (GRCm39) |
E3346K |
probably benign |
Het |
Dock5 |
A |
T |
14: 67,993,941 (GRCm39) |
S1845T |
probably benign |
Het |
Dtx3 |
A |
G |
10: 127,029,058 (GRCm39) |
I60T |
possibly damaging |
Het |
Eif1ad8 |
A |
T |
12: 87,563,935 (GRCm39) |
D90V |
probably damaging |
Het |
F2rl1 |
A |
G |
13: 95,649,796 (GRCm39) |
L362P |
probably damaging |
Het |
Gal3st2c |
T |
C |
1: 93,936,463 (GRCm39) |
F136S |
probably damaging |
Het |
Gm26678 |
T |
C |
3: 54,540,504 (GRCm39) |
|
noncoding transcript |
Het |
Impg1 |
A |
G |
9: 80,252,611 (GRCm39) |
L523P |
probably damaging |
Het |
Ip6k2 |
G |
A |
9: 108,682,847 (GRCm39) |
R319Q |
probably benign |
Het |
Klhl23 |
T |
C |
2: 69,654,516 (GRCm39) |
F129L |
probably damaging |
Het |
Madd |
C |
T |
2: 90,997,373 (GRCm39) |
R746Q |
probably benign |
Het |
Med12l |
T |
G |
3: 59,164,644 (GRCm39) |
|
probably null |
Het |
Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
Myh6 |
T |
G |
14: 55,197,819 (GRCm39) |
M440L |
probably benign |
Het |
Myh7 |
T |
A |
14: 55,228,575 (GRCm39) |
S205C |
probably benign |
Het |
Nxpe4 |
A |
T |
9: 48,310,137 (GRCm39) |
T467S |
probably damaging |
Het |
Or13a20 |
T |
C |
7: 140,232,653 (GRCm39) |
Y254H |
probably damaging |
Het |
Or1e17 |
A |
G |
11: 73,831,182 (GRCm39) |
T37A |
possibly damaging |
Het |
Or7g30 |
T |
A |
9: 19,352,886 (GRCm39) |
L226I |
probably damaging |
Het |
Pcdh7 |
G |
A |
5: 57,876,631 (GRCm39) |
G62D |
possibly damaging |
Het |
Pde3b |
A |
G |
7: 114,120,923 (GRCm39) |
T683A |
possibly damaging |
Het |
Plcb2 |
A |
T |
2: 118,540,047 (GRCm39) |
L1082Q |
probably damaging |
Het |
Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,718,257 (GRCm39) |
V357A |
probably damaging |
Het |
Slitrk6 |
T |
C |
14: 110,987,580 (GRCm39) |
E709G |
probably benign |
Het |
Spc24 |
T |
C |
9: 21,667,498 (GRCm39) |
|
probably null |
Het |
Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
Tfcp2l1 |
G |
A |
1: 118,589,795 (GRCm39) |
R285H |
probably benign |
Het |
Tmem132d |
A |
G |
5: 128,509,389 (GRCm39) |
S14P |
possibly damaging |
Het |
Tulp2 |
A |
G |
7: 45,171,298 (GRCm39) |
K360E |
probably damaging |
Het |
Vmn1r60 |
A |
G |
7: 5,547,803 (GRCm39) |
V99A |
probably benign |
Het |
Zfp599 |
T |
A |
9: 22,161,041 (GRCm39) |
K375* |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTCACAAGAAGCCCTCTC -3'
(R):5'- CAAGACTCAGCCATAGTGGG -3'
Sequencing Primer
(F):5'- ATCGGCCACCTTTCTTGGAGG -3'
(R):5'- CCATAGTGGGTATAAACTGAGTAAGC -3'
|
Posted On |
2015-06-12 |