Incidental Mutation 'IGL03076:Krt71'
ID417700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt71
Ensembl Gene ENSMUSG00000051879
Gene Namekeratin 71
SynonymsCu, mK6irs, Krt2-6g, mK6irs1, Ca, Cal4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL03076
Quality Score
Status
Chromosome15
Chromosomal Location101733949-101743109 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101734597 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 492 (R492H)
Ref Sequence ENSEMBL: ENSMUSP00000023710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023710]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy2 T C 12: 36,165,918 V39A probably damaging Het
Bcl2 A G 1: 106,543,307 V223A probably benign Het
Bsn T A 9: 108,105,382 Y3724F unknown Het
Chd8 T C 14: 52,226,162 probably benign Het
Cyp2a5 T C 7: 26,835,874 V87A probably damaging Het
Dnah10 T C 5: 124,730,162 probably null Het
Dync1h1 C T 12: 110,657,893 R3652W probably damaging Het
Epha5 T A 5: 84,331,690 T152S probably damaging Het
Flnb T G 14: 7,901,988 N950K probably benign Het
Fmn1 A G 2: 113,584,092 D1128G probably damaging Het
Fndc3a T A 14: 72,556,468 T922S possibly damaging Het
Fsip2 A T 2: 82,982,138 N2934Y possibly damaging Het
Gm5415 A G 1: 32,545,545 I428T probably damaging Het
Gnptab T C 10: 88,440,289 V1146A possibly damaging Het
Gsg1l A G 7: 125,923,493 F188L probably benign Het
Kmt2c C A 5: 25,299,151 E309* probably null Het
Lama1 T A 17: 67,716,799 V63E possibly damaging Het
Lrch3 T C 16: 32,981,853 V58A possibly damaging Het
Lrrc8b T A 5: 105,481,549 L587Q probably damaging Het
Lrrtm1 T C 6: 77,244,585 C342R probably damaging Het
Mdm1 T C 10: 118,159,683 S541P possibly damaging Het
Mdn1 T A 4: 32,735,564 V3410D probably damaging Het
Neb G A 2: 52,169,088 H213Y probably damaging Het
Olfr551 A T 7: 102,588,472 N90K probably benign Het
Olfr869 T C 9: 20,137,727 S204P probably benign Het
Pigt A G 2: 164,497,665 E36G probably damaging Het
Plxnb1 T A 9: 109,106,902 V1120D probably damaging Het
Rapgef6 T C 11: 54,625,967 L350P probably damaging Het
Rasgef1c C A 11: 49,970,246 T302K probably damaging Het
Riox2 C A 16: 59,491,212 A386D possibly damaging Het
Slc12a2 T C 18: 57,926,397 probably benign Het
Trim24 T A 6: 37,965,632 S992R probably damaging Het
Trpc3 T C 3: 36,640,655 N717D probably damaging Het
Vwa5b1 T C 4: 138,600,188 D359G probably damaging Het
Wapl A G 14: 34,692,089 T303A probably benign Het
Zfp128 A G 7: 12,884,709 T45A possibly damaging Het
Zfp280d T C 9: 72,312,662 S240P probably damaging Het
Other mutations in Krt71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Krt71 APN 15 101736674 missense probably damaging 1.00
IGL03390:Krt71 APN 15 101734552 missense possibly damaging 0.93
R0040:Krt71 UTSW 15 101738433 missense possibly damaging 0.90
R0040:Krt71 UTSW 15 101738433 missense possibly damaging 0.90
R0041:Krt71 UTSW 15 101739318 missense probably damaging 1.00
R0153:Krt71 UTSW 15 101734706 missense possibly damaging 0.65
R0376:Krt71 UTSW 15 101738070 missense probably damaging 1.00
R0932:Krt71 UTSW 15 101736760 missense probably benign 0.20
R1263:Krt71 UTSW 15 101735466 missense probably damaging 1.00
R1646:Krt71 UTSW 15 101738764 splice site probably null
R1796:Krt71 UTSW 15 101742880 missense possibly damaging 0.68
R1954:Krt71 UTSW 15 101735466 nonsense probably null
R3001:Krt71 UTSW 15 101740471 splice site probably benign
R3793:Krt71 UTSW 15 101742910 missense probably damaging 1.00
R4236:Krt71 UTSW 15 101734694 missense probably benign 0.09
R4751:Krt71 UTSW 15 101735466 missense probably damaging 1.00
R6445:Krt71 UTSW 15 101740340 missense probably benign 0.06
R7034:Krt71 UTSW 15 101738337 missense probably benign 0.41
R7036:Krt71 UTSW 15 101738337 missense probably benign 0.41
Posted On2016-08-02