Incidental Mutation 'IGL01325:Krt76'
ID 74207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt76
Ensembl Gene ENSMUSG00000075402
Gene Name keratin 76
Synonyms 2310001L23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01325
Quality Score
Chromosome 15
Chromosomal Location 101792786-101801355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101793323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 572 (S572T)
Ref Sequence ENSEMBL: ENSMUSP00000097754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100179]
AlphaFold Q3UV17
Predicted Effect unknown
Transcript: ENSMUST00000100179
AA Change: S572T
SMART Domains Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: S572T

Pfam:Keratin_2_head 16 161 5.7e-39 PFAM
Filament 164 479 2.12e-166 SMART
low complexity region 488 551 N/A INTRINSIC
low complexity region 565 593 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196731
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. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygotes mutants exhibit abnormalities in the hair cycle, tail skin and pigmentation, in the epidermis, and in the sebaceous gland. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,347 (GRCm39) T127A probably damaging Het
Acrv1 T A 9: 36,609,810 (GRCm39) M227K probably benign Het
Adam22 T C 5: 8,177,333 (GRCm39) N592S probably benign Het
Adamts15 T A 9: 30,832,984 (GRCm39) I184F possibly damaging Het
Adcy1 T C 11: 7,014,102 (GRCm39) V168A possibly damaging Het
Arl6ip5 T C 6: 97,209,501 (GRCm39) F179L probably benign Het
Asxl2 G T 12: 3,477,172 (GRCm39) R6L probably damaging Het
Btaf1 T A 19: 36,982,049 (GRCm39) probably benign Het
Ccdc136 T C 6: 29,412,949 (GRCm39) F445L probably benign Het
Cpne3 T C 4: 19,535,229 (GRCm39) S268G probably benign Het
Crtc3 C T 7: 80,327,116 (GRCm39) R70Q probably damaging Het
Fam169a C A 13: 97,259,207 (GRCm39) A421E probably benign Het
Fhod1 A T 8: 106,058,281 (GRCm39) M825K probably benign Het
Gjb2 T C 14: 57,337,678 (GRCm39) T177A probably benign Het
Gm6576 A G 15: 27,025,970 (GRCm39) noncoding transcript Het
Herpud2 A G 9: 25,025,207 (GRCm39) V175A probably benign Het
Hmgxb3 T C 18: 61,267,078 (GRCm39) D1052G probably damaging Het
Itpr1 T A 6: 108,358,169 (GRCm39) F578L probably benign Het
Kdm7a T G 6: 39,135,243 (GRCm39) probably benign Het
Lrrcc1 T C 3: 14,601,601 (GRCm39) probably null Het
Marchf9 A C 10: 126,893,459 (GRCm39) V183G probably damaging Het
Mrtfb T C 16: 13,219,088 (GRCm39) V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 (GRCm39) D123E probably benign Het
Nhlh2 T G 3: 101,920,342 (GRCm39) Y125D probably damaging Het
Nol4l A G 2: 153,278,271 (GRCm39) probably benign Het
Npas1 C T 7: 16,197,247 (GRCm39) G206D probably benign Het
Or52h9 T C 7: 104,202,896 (GRCm39) F257L probably damaging Het
Or5ak24 C A 2: 85,260,639 (GRCm39) C178F possibly damaging Het
Pcdhb4 T A 18: 37,442,676 (GRCm39) V662E probably damaging Het
Plxna3 G A X: 73,379,400 (GRCm39) G758S probably damaging Het
Prdm15 T A 16: 97,607,717 (GRCm39) N709Y probably damaging Het
Pygo2 C T 3: 89,339,753 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,120 (GRCm39) S947T probably damaging Het
Rasgrp1 T A 2: 117,129,010 (GRCm39) H203L probably damaging Het
Rbbp6 G A 7: 122,587,841 (GRCm39) G270R probably damaging Het
Rcl1 A G 19: 29,098,662 (GRCm39) probably null Het
Rpl23a-ps1 T C 1: 46,020,793 (GRCm39) noncoding transcript Het
Serpinb7 T G 1: 107,363,110 (GRCm39) H91Q probably damaging Het
Shd C T 17: 56,279,839 (GRCm39) P111S possibly damaging Het
Slc35e1 G T 8: 73,237,602 (GRCm39) probably benign Het
Srgap3 C T 6: 112,752,647 (GRCm39) R279H probably damaging Het
Sstr4 G A 2: 148,237,472 (GRCm39) E28K probably benign Het
Stip1 T C 19: 6,998,464 (GRCm39) probably benign Het
Syne2 A G 12: 75,973,288 (GRCm39) E1097G probably benign Het
Tbcd T A 11: 121,431,819 (GRCm39) V489E probably damaging Het
Tnks2 T A 19: 36,849,033 (GRCm39) S516R probably benign Het
Trmt44 T A 5: 35,726,147 (GRCm39) R343S possibly damaging Het
Trps1 A G 15: 50,710,210 (GRCm39) S47P probably benign Het
Ubr3 A C 2: 69,747,441 (GRCm39) K235Q possibly damaging Het
Uckl1 G A 2: 181,216,754 (GRCm39) Q48* probably null Het
Vat1 T C 11: 101,356,541 (GRCm39) D140G probably benign Het
Vmn2r80 A G 10: 79,030,081 (GRCm39) T636A possibly damaging Het
Zfp423 A T 8: 88,508,239 (GRCm39) probably null Het
Zfp667 C A 7: 6,293,545 (GRCm39) T15N probably damaging Het
Other mutations in Krt76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01475:Krt76 APN 15 101,796,948 (GRCm39) missense probably benign 0.11
IGL01504:Krt76 APN 15 101,796,608 (GRCm39) missense probably damaging 1.00
IGL01506:Krt76 APN 15 101,800,835 (GRCm39) missense probably damaging 0.97
IGL01943:Krt76 APN 15 101,797,480 (GRCm39) missense probably null 0.98
IGL03164:Krt76 APN 15 101,795,886 (GRCm39) missense possibly damaging 0.50
PIT4378001:Krt76 UTSW 15 101,800,842 (GRCm39) missense probably damaging 0.99
R0105:Krt76 UTSW 15 101,793,347 (GRCm39) missense unknown
R0105:Krt76 UTSW 15 101,793,347 (GRCm39) missense unknown
R0448:Krt76 UTSW 15 101,799,082 (GRCm39) missense probably damaging 1.00
R0730:Krt76 UTSW 15 101,795,784 (GRCm39) missense probably damaging 1.00
R0920:Krt76 UTSW 15 101,800,874 (GRCm39) missense possibly damaging 0.80
R1568:Krt76 UTSW 15 101,793,443 (GRCm39) missense unknown
R1779:Krt76 UTSW 15 101,801,122 (GRCm39) missense unknown
R1869:Krt76 UTSW 15 101,797,922 (GRCm39) critical splice donor site probably null
R1911:Krt76 UTSW 15 101,796,600 (GRCm39) nonsense probably null
R2160:Krt76 UTSW 15 101,796,820 (GRCm39) missense probably damaging 1.00
R2504:Krt76 UTSW 15 101,793,293 (GRCm39) missense unknown
R4487:Krt76 UTSW 15 101,798,917 (GRCm39) missense possibly damaging 0.71
R4729:Krt76 UTSW 15 101,797,516 (GRCm39) missense probably damaging 1.00
R4747:Krt76 UTSW 15 101,794,180 (GRCm39) missense probably damaging 1.00
R4912:Krt76 UTSW 15 101,796,597 (GRCm39) nonsense probably null
R5357:Krt76 UTSW 15 101,795,820 (GRCm39) missense probably benign 0.04
R6738:Krt76 UTSW 15 101,795,913 (GRCm39) missense probably benign 0.40
R7786:Krt76 UTSW 15 101,798,965 (GRCm39) missense probably damaging 0.98
R7808:Krt76 UTSW 15 101,798,929 (GRCm39) missense probably damaging 1.00
R7825:Krt76 UTSW 15 101,795,938 (GRCm39) missense possibly damaging 0.46
R8079:Krt76 UTSW 15 101,796,825 (GRCm39) missense possibly damaging 0.61
R8846:Krt76 UTSW 15 101,795,772 (GRCm39) missense probably damaging 1.00
R8980:Krt76 UTSW 15 101,800,990 (GRCm39) missense unknown
Z1088:Krt76 UTSW 15 101,798,986 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07