Incidental Mutation 'R0932:Krt71'
ID |
81002 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Krt71
|
Ensembl Gene |
ENSMUSG00000051879 |
Gene Name |
keratin 71 |
Synonyms |
mK6irs, Cal4, Krt2-6g, Ca, Cu, mK6irs1 |
MMRRC Submission |
039076-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.125)
|
Stock # |
R0932 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
101642384-101651532 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 101645195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 372
(N372S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023710]
|
AlphaFold |
Q9R0H5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023710
AA Change: N372S
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000023710 Gene: ENSMUSG00000051879 AA Change: N372S
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 |
0.0789 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.1%
- 10x: 98.2%
- 20x: 97.1%
|
Validation Efficiency |
100% (42/42) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932438H23Rik |
T |
C |
16: 90,852,995 (GRCm39) |
N47S |
probably benign |
Het |
AA986860 |
T |
C |
1: 130,665,430 (GRCm39) |
|
probably null |
Het |
Akap9 |
T |
A |
5: 4,096,492 (GRCm39) |
C2456S |
possibly damaging |
Het |
Anks3 |
C |
T |
16: 4,771,691 (GRCm39) |
R111H |
probably damaging |
Het |
Atp1a3 |
A |
T |
7: 24,687,401 (GRCm39) |
|
probably null |
Het |
Bahd1 |
T |
C |
2: 118,746,408 (GRCm39) |
L9P |
probably damaging |
Het |
Capn12 |
T |
C |
7: 28,587,123 (GRCm39) |
V364A |
possibly damaging |
Het |
Cds1 |
T |
A |
5: 101,944,891 (GRCm39) |
C122S |
probably damaging |
Het |
Cenpc1 |
T |
C |
5: 86,185,459 (GRCm39) |
T351A |
possibly damaging |
Het |
Cuzd1 |
T |
C |
7: 130,921,923 (GRCm39) |
|
probably benign |
Het |
Daxx |
T |
C |
17: 34,129,635 (GRCm39) |
L72P |
probably damaging |
Het |
Depdc1b |
A |
G |
13: 108,523,369 (GRCm39) |
I415V |
probably benign |
Het |
Dlg2 |
T |
C |
7: 92,024,845 (GRCm39) |
V675A |
probably damaging |
Het |
Dtx4 |
A |
G |
19: 12,469,515 (GRCm39) |
V204A |
probably benign |
Het |
Ganc |
T |
C |
2: 120,288,610 (GRCm39) |
V872A |
probably damaging |
Het |
Gm14403 |
A |
T |
2: 177,198,810 (GRCm39) |
R38W |
probably benign |
Het |
Gm4553 |
T |
C |
7: 141,719,423 (GRCm39) |
S2G |
unknown |
Het |
Gm8159 |
G |
A |
14: 4,635,226 (GRCm38) |
R148H |
possibly damaging |
Het |
Gsdmc3 |
T |
C |
15: 63,730,400 (GRCm39) |
|
probably null |
Het |
Ibtk |
C |
T |
9: 85,617,099 (GRCm39) |
G158R |
probably damaging |
Het |
Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
Kctd7 |
A |
T |
5: 130,180,510 (GRCm39) |
|
probably null |
Het |
Kdr |
T |
C |
5: 76,129,465 (GRCm39) |
T141A |
probably benign |
Het |
Krt25 |
T |
A |
11: 99,212,109 (GRCm39) |
Q176L |
possibly damaging |
Het |
Mllt3 |
A |
G |
4: 87,707,621 (GRCm39) |
V446A |
probably damaging |
Het |
Or1j21 |
T |
A |
2: 36,683,903 (GRCm39) |
Y218* |
probably null |
Het |
Or4k38 |
A |
T |
2: 111,165,543 (GRCm39) |
D293E |
probably benign |
Het |
Or5p4 |
C |
T |
7: 107,680,727 (GRCm39) |
T242M |
probably damaging |
Het |
Or5p52 |
A |
C |
7: 107,502,397 (GRCm39) |
T158P |
possibly damaging |
Het |
Or9e1 |
T |
C |
11: 58,732,540 (GRCm39) |
V200A |
possibly damaging |
Het |
Poldip2 |
T |
C |
11: 78,403,294 (GRCm39) |
S18P |
possibly damaging |
Het |
Ptprd |
T |
G |
4: 76,055,122 (GRCm39) |
Q193P |
probably damaging |
Het |
Reck |
C |
T |
4: 43,922,838 (GRCm39) |
T371M |
possibly damaging |
Het |
Rnf144b |
G |
T |
13: 47,374,001 (GRCm39) |
R66L |
probably null |
Het |
Rpn2 |
T |
A |
2: 157,125,691 (GRCm39) |
D67E |
possibly damaging |
Het |
Scn11a |
A |
G |
9: 119,636,876 (GRCm39) |
F275S |
probably damaging |
Het |
Slc12a5 |
G |
A |
2: 164,838,805 (GRCm39) |
|
probably benign |
Het |
Snapc4 |
A |
G |
2: 26,264,658 (GRCm39) |
I253T |
probably damaging |
Het |
Tppp2 |
C |
T |
14: 52,157,881 (GRCm39) |
|
probably benign |
Het |
Usp9y |
A |
C |
Y: 1,315,930 (GRCm39) |
N2068K |
probably benign |
Het |
Vmn2r45 |
A |
G |
7: 8,478,380 (GRCm39) |
C536R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCCAGAAGTTTGCGGTAGGTG -3'
(R):5'- CTGAAGTGGTTGTGGTCTCCAGAAG -3'
Sequencing Primer
(F):5'- TGGCGATCTCCATGTCCAG -3'
(R):5'- ACGTCTTGGAATAGGTGCATAGC -3'
|
Posted On |
2013-11-07 |