Incidental Mutation 'R1263:Krt71'
ID 151681
Institutional Source Beutler Lab
Gene Symbol Krt71
Ensembl Gene ENSMUSG00000051879
Gene Name keratin 71
Synonyms mK6irs, Cal4, Krt2-6g, Ca, Cu, mK6irs1
MMRRC Submission 039330-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.125) question?
Stock # R1263 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 101642384-101651532 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101643901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 446 (G446R)
Ref Sequence ENSEMBL: ENSMUSP00000023710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023710]
AlphaFold Q9R0H5
Predicted Effect probably damaging
Transcript: ENSMUST00000023710
AA Change: G446R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: G446R

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 0.1934 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A C 11: 109,832,433 (GRCm39) H1231Q possibly damaging Het
Acbd4 T A 11: 102,994,677 (GRCm39) probably null Het
Atp13a4 T A 16: 29,290,771 (GRCm39) Y226F possibly damaging Het
Brd3 A C 2: 27,352,534 (GRCm39) F132C probably damaging Het
Btaf1 A T 19: 36,933,924 (GRCm39) N184I probably benign Het
Ccdc180 A G 4: 45,903,887 (GRCm39) E351G possibly damaging Het
Ccdc185 A T 1: 182,574,918 (GRCm39) Y590* probably null Het
Chi3l1 G A 1: 134,116,980 (GRCm39) E315K probably benign Het
Col6a6 T A 9: 105,586,688 (GRCm39) M1778L probably benign Het
Cyp3a59 A C 5: 146,041,521 (GRCm39) Y355S probably damaging Het
Cyp4a31 A G 4: 115,431,908 (GRCm39) T396A probably benign Het
Dnaaf6rt A T 1: 31,262,296 (GRCm39) I93F probably damaging Het
Dnah6 A T 6: 73,121,948 (GRCm39) I1373N probably damaging Het
Dop1b C A 16: 93,574,274 (GRCm39) H1598N probably benign Het
Erich4 T A 7: 25,314,559 (GRCm39) K118M probably damaging Het
Gkap1 A T 13: 58,403,587 (GRCm39) V179E probably benign Het
Gpr107 T G 2: 31,068,267 (GRCm39) I243S possibly damaging Het
Hs3st6 A G 17: 24,977,504 (GRCm39) N328S probably damaging Het
Kcnq5 A T 1: 21,549,602 (GRCm39) I375N probably damaging Het
Klhdc3 A T 17: 46,987,892 (GRCm39) H266Q probably benign Het
L3mbtl2 A G 15: 81,567,169 (GRCm39) T423A probably benign Het
Mical3 T C 6: 120,929,430 (GRCm39) E1812G probably damaging Het
Nlrp1a A G 11: 70,987,948 (GRCm39) I1174T probably benign Het
Npas2 C A 1: 39,373,849 (GRCm39) Q450K possibly damaging Het
Nrp1 T A 8: 129,194,870 (GRCm39) I442N probably damaging Het
Or1j10 T A 2: 36,267,006 (GRCm39) S73T probably damaging Het
Or2y1 A T 11: 49,385,848 (GRCm39) M163L probably benign Het
Palld TGCGTAGCG TGCG 8: 61,966,491 (GRCm39) probably null Het
Pold3 T A 7: 99,768,890 (GRCm39) Q36L possibly damaging Het
Polg T C 7: 79,109,534 (GRCm39) T428A probably benign Het
Rfx7 T A 9: 72,484,329 (GRCm39) V57E possibly damaging Het
Rnf122 T G 8: 31,602,177 (GRCm39) M1R probably null Het
Sanbr A T 11: 23,570,278 (GRCm39) Y207* probably null Het
Scn10a T A 9: 119,446,799 (GRCm39) T1410S probably damaging Het
Serpinb13 T A 1: 106,928,466 (GRCm39) V362E probably damaging Het
Setdb1 T C 3: 95,234,922 (GRCm39) N927S probably damaging Het
Sft2d1 A G 17: 8,539,470 (GRCm39) K91R probably benign Het
Shprh A G 10: 11,035,274 (GRCm39) H327R probably damaging Het
Slc9b2 C A 3: 135,042,156 (GRCm39) H478Q probably benign Het
Styxl1 G T 5: 135,782,737 (GRCm39) S117R probably damaging Het
Synj2 T C 17: 6,069,634 (GRCm39) F150L probably damaging Het
Tep1 C A 14: 51,082,970 (GRCm39) V1013L possibly damaging Het
Tgfbi T A 13: 56,778,468 (GRCm39) L413Q probably damaging Het
Tmc5 G A 7: 118,266,093 (GRCm39) R789Q probably damaging Het
Tonsl T A 15: 76,506,762 (GRCm39) I115F possibly damaging Het
Trim38 A G 13: 23,975,117 (GRCm39) Y352C probably damaging Het
Txnl4a T A 18: 80,250,536 (GRCm39) V44D probably benign Het
Vars2 A G 17: 35,972,501 (GRCm39) V39A probably damaging Het
Vmn2r105 A G 17: 20,428,584 (GRCm39) C831R probably damaging Het
Vmn2r26 T A 6: 124,027,667 (GRCm39) I469N probably benign Het
Vmn2r53 T C 7: 12,315,533 (GRCm39) Y762C probably benign Het
Vps13d T A 4: 144,896,918 (GRCm39) Q334L probably benign Het
Zfp277 A T 12: 40,414,164 (GRCm39) I227N probably damaging Het
Other mutations in Krt71
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ACTGAAGCCTGCCTGCTTGAAATG -3'
(R):5'- GCTGTGCCTTAGGTAAAGCACTCC -3'

Sequencing Primer
(F):5'- gaggcagaatgatgaagatgaag -3'
(R):5'- GGTAAAGCACTCCTGGAGTATCC -3'
Posted On 2014-01-29