Incidental Mutation 'R3001:Krt71'
ID257345
Institutional Source Beutler Lab
Gene Symbol Krt71
Ensembl Gene ENSMUSG00000051879
Gene Namekeratin 71
SynonymsCu, mK6irs, Krt2-6g, mK6irs1, Ca, Cal4
MMRRC Submission 040530-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.159) question?
Stock #R3001 (G1)
Quality Score180
Status Validated
Chromosome15
Chromosomal Location101733949-101743109 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 101740471 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023710]
Predicted Effect probably benign
Transcript: ENSMUST00000023710
SMART Domains Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (47/48)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810459M11Rik T C 1: 86,046,080 W40R possibly damaging Het
A2m A G 6: 121,661,447 S873G possibly damaging Het
Acd C T 8: 105,700,281 probably null Het
Acly T C 11: 100,504,227 K469E possibly damaging Het
Adcy6 T C 15: 98,596,660 T767A probably benign Het
Bnip3 T C 7: 138,894,701 I93V probably benign Het
Casq2 A G 3: 102,145,201 D269G probably damaging Het
Ccdc180 A G 4: 45,899,988 D182G probably benign Het
Cep112 A G 11: 108,440,503 E178G probably damaging Het
Chrd T G 16: 20,737,445 Y585* probably null Het
Csmd1 A G 8: 16,196,170 F1072L probably damaging Het
Dnaic2 C T 11: 114,750,471 P374L probably damaging Het
Eif4g1 T A 16: 20,692,384 F1289I probably damaging Het
Eprs T C 1: 185,424,391 probably null Het
Fam105a T C 15: 27,664,706 T55A probably benign Het
Fasn T C 11: 120,809,845 D2114G probably benign Het
Fbxl17 T A 17: 63,225,077 E590D probably damaging Het
Flnb G T 14: 7,907,162 R1245L probably benign Het
Folh1 A C 7: 86,723,311 I678M probably damaging Het
Hal G A 10: 93,507,519 A542T probably damaging Het
Hs3st2 T A 7: 121,500,687 M252K probably damaging Het
Il27ra G T 8: 84,032,031 S499* probably null Het
Klhdc1 T A 12: 69,256,209 V173D possibly damaging Het
Knop1 CTCTTCTTCTTCTTCTTCTTCTTC CTCTTCTTCTTCTTCTTC 7: 118,852,449 probably benign Het
Lct T C 1: 128,304,226 M629V probably damaging Het
Lnx2 A G 5: 147,019,015 V657A probably benign Het
Lrig1 G A 6: 94,608,777 S810L probably damaging Het
Lyst A T 13: 13,696,705 M2676L probably benign Het
Mindy4 T A 6: 55,218,364 S188T probably benign Het
Mrgprb3 C T 7: 48,643,484 M106I probably benign Het
Ncam1 A G 9: 49,557,226 I311T probably damaging Het
Ndufa8 T A 2: 36,036,559 E155V possibly damaging Het
Nr4a1 A G 15: 101,270,972 probably null Het
Olfr446 A G 6: 42,927,954 H241R probably damaging Het
Orc3 T C 4: 34,571,790 T660A probably benign Het
Otub2 T C 12: 103,404,277 S273P probably damaging Het
Phf11c A G 14: 59,384,840 L241P probably damaging Het
Pik3ca T A 3: 32,462,797 I1058N probably damaging Het
Pkd2l1 A G 19: 44,155,557 F359S possibly damaging Het
Plxnc1 A T 10: 94,793,218 F1565I probably damaging Het
Polr1a T A 6: 71,965,644 V1156E probably benign Het
Polr1a A G 6: 71,913,016 N73S probably benign Het
Pon2 A G 6: 5,268,976 probably null Het
Ptcd1 G A 5: 145,159,576 L236F probably damaging Het
Rgl2 A G 17: 33,932,605 I208V probably benign Het
Rptor G A 11: 119,872,371 R927Q possibly damaging Het
Sacm1l T C 9: 123,585,084 probably benign Het
Sec14l5 A G 16: 5,171,882 Y230C probably damaging Het
Sele G T 1: 164,053,571 G447C probably damaging Het
Slc17a1 G A 13: 23,878,581 probably null Het
Slc2a4 A T 11: 69,945,925 Y159* probably null Het
Slitrk5 A G 14: 111,679,582 K213E probably damaging Het
Tdrd1 C A 19: 56,861,750 Y981* probably null Het
Tex15 T C 8: 33,574,528 Y1329H probably benign Het
Tgif2 C G 2: 156,844,194 S2W probably damaging Het
Thoc5 A G 11: 4,928,688 M620V probably benign Het
Tmeff2 C T 1: 51,181,835 A323V probably damaging Het
Tmem181a T A 17: 6,295,786 L185H probably damaging Het
Tmem68 A C 4: 3,569,588 L34W probably damaging Het
Tmtc4 A T 14: 122,932,818 probably null Het
Trpm2 A T 10: 77,930,534 probably null Het
Tyk2 C A 9: 21,109,321 R938L probably benign Het
Usp33 A T 3: 152,357,942 T18S probably damaging Het
V1rd19 A T 7: 24,003,885 I259F probably benign Het
Vmn2r24 A C 6: 123,804,272 Q479P probably benign Het
Vmn2r98 A G 17: 19,065,863 M208V probably benign Het
Wfdc6a C T 2: 164,580,305 V125I probably benign Het
Xpo7 A G 14: 70,692,645 probably benign Het
Zcchc11 G A 4: 108,512,928 E714K probably damaging Het
Zkscan17 A G 11: 59,487,251 C369R probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- ATTCCTCAGCTCAGAGTCCAG -3'
(R):5'- GGCATAGTTCTGAGCTCTGC -3'

Sequencing Primer
(F):5'- AGAGTCCAGCCTCACTCTG -3'
(R):5'- TGAATAAACTTCTGGACCCTGGG -3'
Posted On2015-01-11