Incidental Mutation 'IGL03390:Krt71'
ID421035
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: 0.149) question?
Stock #IGL03390
Quality Score
Status
Chromosome15
Chromosomal Location101733949-101743109 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101734552 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 507 (D507G)
Ref Sequence ENSEMBL: ENSMUSP00000023710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023710]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023710
AA Change: D507G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000023710
Gene: ENSMUSG00000051879
AA Change: D507G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik A G 8: 124,839,825 probably benign Het
Ccdc18 A G 5: 108,212,131 Y1127C probably damaging Het
Cdnf T A 2: 3,523,826 L134* probably null Het
Col11a1 A G 3: 114,090,253 D257G unknown Het
Cthrc1 T A 15: 39,077,134 I44N probably benign Het
Dlec1 T C 9: 119,123,220 Y545H probably benign Het
Drosha T G 15: 12,884,983 probably null Het
Ebf2 A G 14: 67,424,109 N562S probably benign Het
Fem1b G A 9: 62,796,964 A338V probably benign Het
Gga3 A T 11: 115,586,994 probably null Het
Gm7247 A T 14: 51,523,457 H161L probably benign Het
Gm7367 A G 7: 60,155,769 noncoding transcript Het
Inpp5a T G 7: 139,525,748 V213G probably benign Het
Kcns3 T C 12: 11,091,232 T489A probably benign Het
Kifc3 G A 8: 95,108,613 A211V probably damaging Het
Lama5 T C 2: 180,207,218 Y224C probably damaging Het
Lrrc37a A G 11: 103,496,031 L2421P unknown Het
Mtch2 C T 2: 90,859,550 T205I probably benign Het
Olfr108 T C 17: 37,446,364 V281A probably benign Het
Prkdc T A 16: 15,670,626 C537* probably null Het
Prl2a1 T C 13: 27,801,716 V5A probably benign Het
Prob1 T C 18: 35,654,139 Y354C probably benign Het
Rimklb C T 6: 122,456,321 S347N possibly damaging Het
Rnase2a T C 14: 51,255,488 D140G probably damaging Het
Ryr2 G A 13: 11,772,416 P1017S probably benign Het
Slc3a1 A G 17: 85,032,777 D209G probably damaging Het
Sntn T A 14: 13,682,205 probably benign Het
Tal2 G T 4: 53,785,994 L58F probably damaging Het
Trim39 T C 17: 36,260,571 K432E probably damaging Het
Trmt5 A T 12: 73,282,727 M219K probably benign Het
Vmn2r3 T A 3: 64,275,346 I311L possibly damaging Het
Wfdc17 A T 11: 83,704,785 probably benign Het
Zbtb6 T G 2: 37,429,572 I115L probably damaging Het
Zfp750 A T 11: 121,511,944 C659* 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
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 On2016-08-02