Incidental Mutation 'IGL01024:Krt71'
ID54012
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: 0.164) question?
Stock #IGL01024
Quality Score
Status
Chromosome15
Chromosomal Location101733949-101743109 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101736674 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 401 (A401T)
Ref Sequence ENSEMBL: ENSMUSP00000023710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023710]
Predicted Effect probably damaging
Transcript: ENSMUST00000023710
AA Change: A401T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: A401T

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,717,040 V209A probably benign Het
Abca6 T A 11: 110,197,142 Y1053F probably benign Het
Acot12 C T 13: 91,781,211 Q386* probably null Het
Adamts16 A G 13: 70,795,484 V336A probably benign Het
Ankrd49 A G 9: 14,782,803 F23L probably damaging Het
Aspm A T 1: 139,478,124 H1583L possibly damaging Het
Atp6v0a1 A G 11: 101,048,439 I677V probably benign Het
BC005561 T G 5: 104,521,746 V1378G probably benign Het
Brinp1 A T 4: 68,762,494 W600R probably damaging Het
C87977 A T 4: 144,208,475 I232K possibly damaging Het
Ccdc185 T C 1: 182,747,423 E567G possibly damaging Het
Clip2 T C 5: 134,510,212 D445G probably damaging Het
Elp5 T C 11: 69,968,422 probably benign Het
Gm9376 A G 14: 118,267,158 M1V probably null Het
Gtf2a1l A G 17: 88,671,291 K40R probably damaging Het
Hdc A G 2: 126,603,846 V246A probably benign Het
Hectd2 T A 19: 36,606,393 F479L probably damaging Het
Hipk1 G T 3: 103,760,636 N538K probably benign Het
Kif27 T A 13: 58,288,201 E1259D possibly damaging Het
Klhdc2 T A 12: 69,305,836 N256K probably benign Het
Mapk3 A T 7: 126,764,774 K312* probably null Het
Med12l G T 3: 59,073,341 S365I probably damaging Het
Mgam A G 6: 40,643,010 K11R probably benign Het
Nox3 A T 17: 3,683,015 I187N probably damaging Het
Nudcd1 T A 15: 44,420,826 M55L probably benign Het
Olfr1312 A T 2: 112,042,371 F220L probably benign Het
Olfr43 A T 11: 74,206,655 L187Q probably damaging Het
Olfr983 A G 9: 40,092,733 S78P probably damaging Het
Pard6g T C 18: 80,079,822 probably benign Het
Pbrm1 G A 14: 31,052,260 R461H probably damaging Het
Ppm1f C A 16: 16,923,769 T369K probably benign Het
Ppp1r16b C T 2: 158,740,816 probably benign Het
Prom2 T C 2: 127,541,139 N61S probably benign Het
Psmc2 T C 5: 21,801,198 probably benign Het
Psme2 A G 14: 55,588,436 probably benign Het
Ptprc T C 1: 138,080,912 H655R probably damaging Het
Pxdn A C 12: 29,987,099 N292T probably damaging Het
Rapgef2 T C 3: 79,070,138 I1301V probably benign Het
Rnase11 T C 14: 51,049,864 I78V probably benign Het
Rpl41 A G 10: 128,548,377 probably benign Het
Sgf29 G A 7: 126,664,931 R56Q possibly damaging Het
Sis A G 3: 72,911,876 L1449S probably damaging Het
Slc34a2 T A 5: 53,067,630 V371D possibly damaging Het
Son C A 16: 91,655,910 T515K probably damaging Het
Tbx15 A T 3: 99,316,246 D250V probably damaging Het
Tmem171 T A 13: 98,686,518 probably null Het
Ugt2b36 C T 5: 87,080,869 probably null Het
Vill G A 9: 119,070,350 probably null Het
Vmn2r22 A G 6: 123,638,053 F193L probably damaging Het
Vmn2r95 C T 17: 18,452,328 probably benign Het
Vstm2a T A 11: 16,281,874 V223D possibly damaging Het
Other mutations in Krt71
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7378:Krt71 UTSW 15 101738329 nonsense probably null
R8026:Krt71 UTSW 15 101738382 missense possibly damaging 0.66
Posted On2013-06-28