Incidental Mutation 'R7786:Krt76'
ID 599551
Institutional Source Beutler Lab
Gene Symbol Krt76
Ensembl Gene ENSMUSG00000075402
Gene Name keratin 76
Synonyms 2310001L23Rik
MMRRC Submission 045842-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7786 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 101792786-101801355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101798965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 240 (E240V)
Ref Sequence ENSEMBL: ENSMUSP00000097754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100179]
AlphaFold Q3UV17
Predicted Effect probably damaging
Transcript: ENSMUST00000100179
AA Change: E240V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: E240V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (42/44)
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
Acaa2 T C 18: 74,925,518 (GRCm39) S94P probably damaging Het
Adam18 C T 8: 25,101,134 (GRCm39) R676H probably benign Het
Akna A G 4: 63,313,199 (GRCm39) L308P probably benign Het
Ambra1 G C 2: 91,598,141 (GRCm39) V101L possibly damaging Het
Arnt A G 3: 95,392,267 (GRCm39) D377G probably damaging Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdr1 AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC X: 60,228,130 (GRCm39) probably benign Het
Cfap210 A T 2: 69,612,092 (GRCm39) W179R probably damaging Het
Cit C A 5: 116,001,077 (GRCm39) Q159K probably benign Het
Dnah1 A T 14: 30,984,478 (GRCm39) H3935Q probably damaging Het
Emc8 T C 8: 121,394,656 (GRCm39) Y21C probably damaging Het
Fcrla G T 1: 170,748,426 (GRCm39) P265Q possibly damaging Het
Gabbr1 A T 17: 37,380,955 (GRCm39) N766I probably damaging Het
Galnt14 T A 17: 74,016,976 (GRCm39) T27S probably benign Het
Garin2 T A 12: 78,766,403 (GRCm39) S391T probably benign Het
Gatad2b T C 3: 90,262,986 (GRCm39) I476T probably damaging Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Gtf2ird1 C A 5: 134,419,753 (GRCm39) G71* probably null Het
Hdac11 T A 6: 91,150,158 (GRCm39) L319* probably null Het
Hsd11b2 T A 8: 106,245,506 (GRCm39) W4R probably damaging Het
Katnip A G 7: 125,464,466 (GRCm39) I1278V probably benign Het
Man2b1 C T 8: 85,812,085 (GRCm39) Q180* probably null Het
Megf8 T C 7: 25,017,120 (GRCm39) probably null Het
Mlh3 T C 12: 85,313,511 (GRCm39) T892A probably benign Het
Mmp21 C T 7: 133,276,764 (GRCm39) S413N probably benign Het
Nav1 T C 1: 135,397,733 (GRCm39) D812G probably damaging Het
Nox4 T A 7: 86,945,050 (GRCm39) I71N probably damaging Het
Oplah T A 15: 76,193,916 (GRCm39) I14F possibly damaging Het
Or51i2 G A 7: 103,689,930 (GRCm39) R309H unknown Het
Or52p1 T A 7: 104,266,925 (GRCm39) I13N probably benign Het
Or5w16 A T 2: 87,576,645 (GRCm39) Y35F probably damaging Het
Pik3ap1 A G 19: 41,310,024 (GRCm39) M432T probably damaging Het
Plin3 G A 17: 56,586,757 (GRCm39) T430I probably benign Het
Poc5 C A 13: 96,541,027 (GRCm39) Q399K possibly damaging Het
Ptprz1 G A 6: 23,036,992 (GRCm39) G2013R probably damaging Het
Rgs7bp T C 13: 105,190,568 (GRCm39) D52G probably benign Het
Tenm2 A C 11: 35,901,276 (GRCm39) F2488V probably damaging Het
Tnfaip8 G C 18: 50,180,178 (GRCm39) A110P unknown Het
Tnfaip8 C T 18: 50,180,179 (GRCm39) A110V unknown Het
Top3a C T 11: 60,667,792 (GRCm39) A46T probably damaging Het
Try10 T A 6: 41,332,463 (GRCm39) S40T possibly damaging Het
Vav2 C A 2: 27,276,613 (GRCm39) L70F probably damaging Het
Xylt1 C A 7: 117,242,702 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ATATTGGCCCCATAAGCATGAGTC -3'
(R):5'- AAGCCAGGTGGAAAGCCTTAC -3'

Sequencing Primer
(F):5'- TAAGCATGAGTCCCCACTTG -3'
(R):5'- AGGTGGAAAGCCTTACCTTCC -3'
Posted On 2019-11-26