Incidental Mutation 'R0040:Krt71'
ID15464
Institutional Source Beutler Lab
Gene Symbol Krt71
Ensembl Gene ENSMUSG00000051879
Gene Namekeratin 71
SynonymsCu, mK6irs, Krt2-6g, mK6irs1, Ca, Cal4
MMRRC Submission 038334-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.325) question?
Stock #R0040 (G1)
Quality Score
Status Validated
Chromosome15
Chromosomal Location101733949-101743109 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101738433 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 280 (H280L)
Ref Sequence ENSEMBL: ENSMUSP00000023710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023710]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023710
AA Change: H280L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: H280L

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
Meta Mutation Damage Score 0.42 question?
Coding Region Coverage
  • 1x: 84.2%
  • 3x: 77.3%
  • 10x: 61.4%
  • 20x: 43.8%
Validation Efficiency 96% (74/77)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T G 6: 121,645,206 L356R possibly damaging Het
Antxr2 G A 5: 97,938,425 T441I possibly damaging Het
Apcs A G 1: 172,894,456 Y108H probably benign Het
Arpp21 T C 9: 112,147,409 probably benign Het
Atcay C T 10: 81,210,519 probably null Het
Bahcc1 A G 11: 120,268,370 D141G probably damaging Het
Cacng5 A T 11: 107,884,510 L11Q probably damaging Het
Ccdc73 T C 2: 104,992,084 S793P probably damaging Het
Ceacam10 A G 7: 24,778,264 Y68C probably damaging Het
Csmd3 G A 15: 47,633,816 P3062S probably damaging Het
Dctn4 A G 18: 60,544,042 N145D possibly damaging Het
Dusp12 A G 1: 170,880,657 Y164H probably damaging Het
Fat1 A G 8: 45,026,404 D2829G probably damaging Het
Fbxl13 T C 5: 21,486,373 T671A probably damaging Het
Fndc3b T A 3: 27,556,117 probably null Het
Gprc6a T A 10: 51,614,984 K819* probably null Het
Gucy2g T A 19: 55,217,302 T709S possibly damaging Het
Gxylt1 A T 15: 93,254,555 probably benign Het
Idh2 A G 7: 80,097,822 S317P probably damaging Het
Ifi30 T C 8: 70,763,776 probably null Het
Ifna16 G A 4: 88,676,630 A76V probably benign Het
Itpr2 C T 6: 146,345,140 E1127K probably damaging Het
Kank4 A G 4: 98,779,220 V330A probably benign Het
Kri1 T C 9: 21,281,105 Y131C probably damaging Het
Lox A T 18: 52,520,826 H399Q possibly damaging Het
Mapt A G 11: 104,305,398 M446V probably damaging Het
Mpp7 A T 18: 7,403,180 probably benign Het
Mycbp2 A G 14: 103,224,272 V1447A probably benign Het
Myl3 A C 9: 110,767,929 D119A probably damaging Het
Myo1b A T 1: 51,781,989 I451N probably damaging Het
Nubp1 A G 16: 10,421,117 T199A probably damaging Het
Olfml2b A G 1: 170,668,751 H317R probably benign Het
Pard3b A T 1: 62,637,820 Y1170F probably damaging Het
Pear1 T C 3: 87,754,358 D536G probably damaging Het
Pira6 A G 7: 4,281,483 noncoding transcript Het
Pkhd1l1 T A 15: 44,573,625 Y3460N probably damaging Het
Plxna2 G T 1: 194,643,896 R46L probably benign Het
Rnf168 T A 16: 32,278,173 probably null Het
Rpl14 C G 9: 120,572,101 F3L possibly damaging Het
Scara5 C T 14: 65,762,717 probably benign Het
Sh3rf1 T A 8: 61,329,252 Y143N possibly damaging Het
Slc4a8 T A 15: 100,789,846 I288N probably damaging Het
Synpr G A 14: 13,563,024 A86T probably damaging Het
Ttc38 C A 15: 85,841,489 F184L probably damaging Het
Wdpcp A G 11: 21,711,638 I303M probably damaging Het
Zc3h12d G A 10: 7,867,914 A483T probably benign Het
Zfp106 C A 2: 120,531,613 K1008N probably damaging Het
Zfp68 G A 5: 138,607,779 T94I probably benign Het
Zfp867 C T 11: 59,463,865 A213T possibly damaging Het
Zkscan3 A T 13: 21,394,920 probably null Het
Other mutations in Krt71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Krt71 APN 15 101736674 missense probably damaging 1.00
IGL03076:Krt71 APN 15 101734597 missense probably benign 0.00
IGL03390:Krt71 APN 15 101734552 missense possibly damaging 0.93
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 On2012-12-21