Incidental Mutation 'IGL03164:Krt76'
ID 411544
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 # IGL03164
Quality Score
Status
Chromosome 15
Chromosomal Location 101792786-101801355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101795886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 428 (D428G)
Ref Sequence ENSEMBL: ENSMUSP00000097754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100179]
AlphaFold Q3UV17
Predicted Effect possibly damaging
Transcript: ENSMUST00000100179
AA Change: D428G

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: D428G

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A G 3: 59,947,070 (GRCm39) D256G probably damaging Het
Abcb11 A T 2: 69,122,343 (GRCm39) L380* probably null Het
Aco1 A T 4: 40,167,116 (GRCm39) N110I probably benign Het
Adamts9 T C 6: 92,866,918 (GRCm39) D126G probably damaging Het
Anks1b T G 10: 89,878,554 (GRCm39) V121G probably damaging Het
Ap1s3 A G 1: 79,602,887 (GRCm39) L40P probably damaging Het
Cd19 C A 7: 126,012,681 (GRCm39) M237I possibly damaging Het
Chil6 T C 3: 106,301,714 (GRCm39) T129A probably benign Het
Chtf18 A G 17: 25,945,816 (GRCm39) M94T probably benign Het
Clstn2 G T 9: 97,681,462 (GRCm39) D59E possibly damaging Het
Cplx3 T C 9: 57,517,278 (GRCm39) T369A probably damaging Het
Ctnnbl1 A C 2: 157,659,681 (GRCm39) M253L probably benign Het
Erg T C 16: 95,210,730 (GRCm39) T41A possibly damaging Het
Gjd3 T A 11: 102,691,547 (GRCm39) N152I possibly damaging Het
Ints1 A G 5: 139,738,490 (GRCm39) L2084P probably damaging Het
Isoc1 C T 18: 58,806,404 (GRCm39) S238L probably damaging Het
Kdm5a T A 6: 120,415,980 (GRCm39) D1633E probably damaging Het
Lrp2 G T 2: 69,295,043 (GRCm39) T3425K probably damaging Het
Lta4h T C 10: 93,306,659 (GRCm39) probably benign Het
Nap1l4 C T 7: 143,091,953 (GRCm39) probably null Het
Nlrp5 T A 7: 23,117,798 (GRCm39) Y507* probably null Het
Nps T C 7: 134,874,039 (GRCm39) S53P probably damaging Het
Oprk1 A T 1: 5,669,087 (GRCm39) I178F probably damaging Het
Or2a12 C T 6: 42,905,064 (GRCm39) R300* probably null Het
Or5p1 T C 7: 107,916,901 (GRCm39) S267P probably damaging Het
Osgin2 G T 4: 16,001,938 (GRCm39) S204R probably benign Het
Otop1 G T 5: 38,445,306 (GRCm39) G155* probably null Het
Peli3 A G 19: 4,986,144 (GRCm39) probably null Het
Pex7 T A 10: 19,770,461 (GRCm39) probably benign Het
Pfkm T C 15: 98,029,843 (GRCm39) L749P probably damaging Het
Pwp1 T A 10: 85,714,367 (GRCm39) F103Y probably benign Het
Rhod T C 19: 4,482,829 (GRCm39) K63E possibly damaging Het
Rtl1 T C 12: 109,559,367 (GRCm39) E824G probably damaging Het
Sema4d A G 13: 51,862,958 (GRCm39) F467L possibly damaging Het
Septin10 T C 10: 59,016,921 (GRCm39) E201G probably damaging Het
Slc37a3 G A 6: 39,322,237 (GRCm39) T389I probably benign Het
Slco2b1 C T 7: 99,334,743 (GRCm39) A243T probably damaging Het
Sorbs2 A G 8: 46,235,911 (GRCm39) T187A probably benign Het
Supt20 T A 3: 54,620,609 (GRCm39) D389E probably benign Het
Tchh A G 3: 93,352,699 (GRCm39) D713G unknown Het
Trappc10 T C 10: 78,056,076 (GRCm39) R209G probably damaging Het
Unc119 A G 11: 78,239,002 (GRCm39) D176G probably damaging Het
Usb1 G A 8: 96,060,112 (GRCm39) R21Q probably damaging Het
Other mutations in Krt76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Krt76 APN 15 101,793,323 (GRCm39) missense unknown
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
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 2016-08-02