Incidental Mutation 'IGL01504:Krt76'
ID88990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt76
Ensembl Gene ENSMUSG00000075402
Gene Namekeratin 76
Synonyms2310001L23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01504
Quality Score
Status
Chromosome15
Chromosomal Location101884351-101892920 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101888173 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 400 (E400G)
Ref Sequence ENSEMBL: ENSMUSP00000097754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100179]
Predicted Effect probably damaging
Transcript: ENSMUST00000100179
AA Change: E400G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: E400G

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,602 I326N probably damaging Het
Acot6 G A 12: 84,109,402 V375M probably benign Het
Als2cl G A 9: 110,889,283 R364Q probably benign Het
Cpa1 A T 6: 30,640,721 T121S probably benign Het
Ctnnbl1 A G 2: 157,818,116 probably benign Het
Fam196a T A 7: 134,917,940 Q287L probably benign Het
Frrs1 C A 3: 116,900,658 Q76K probably damaging Het
Gja10 T A 4: 32,602,375 D3V probably damaging Het
Mdm1 A G 10: 118,146,600 T47A probably damaging Het
Ncf2 A G 1: 152,833,329 K336R probably benign Het
Ndrg4 C A 8: 95,706,266 L34I probably damaging Het
Phf20l1 T A 15: 66,597,691 H148Q possibly damaging Het
Rhobtb1 A G 10: 69,249,698 H89R probably damaging Het
Sult1e1 T C 5: 87,576,301 N266D probably damaging Het
Sult2a2 T C 7: 13,738,264 S129P probably damaging Het
Trank1 A G 9: 111,373,544 E1659G probably damaging Het
Trpa1 T G 1: 14,882,219 I863L possibly damaging Het
Vmn1r177 C T 7: 23,866,410 V14M probably damaging Het
Vmn2r14 A T 5: 109,221,419 M96K probably benign Het
Zp1 C T 19: 10,919,011 V117M probably damaging Het
Other mutations in Krt76
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Krt76 APN 15 101884888 missense unknown
IGL01475:Krt76 APN 15 101888513 missense probably benign 0.11
IGL01506:Krt76 APN 15 101892400 missense probably damaging 0.97
IGL01943:Krt76 APN 15 101889045 missense probably null 0.98
IGL03164:Krt76 APN 15 101887451 missense possibly damaging 0.50
PIT4378001:Krt76 UTSW 15 101892407 missense probably damaging 0.99
R0105:Krt76 UTSW 15 101884912 missense unknown
R0105:Krt76 UTSW 15 101884912 missense unknown
R0448:Krt76 UTSW 15 101890647 missense probably damaging 1.00
R0730:Krt76 UTSW 15 101887349 missense probably damaging 1.00
R0920:Krt76 UTSW 15 101892439 missense possibly damaging 0.80
R1568:Krt76 UTSW 15 101885008 missense unknown
R1779:Krt76 UTSW 15 101892687 missense unknown
R1869:Krt76 UTSW 15 101889487 critical splice donor site probably null
R1911:Krt76 UTSW 15 101888165 nonsense probably null
R2160:Krt76 UTSW 15 101888385 missense probably damaging 1.00
R2504:Krt76 UTSW 15 101884858 missense unknown
R4487:Krt76 UTSW 15 101890482 missense possibly damaging 0.71
R4729:Krt76 UTSW 15 101889081 missense probably damaging 1.00
R4747:Krt76 UTSW 15 101885745 missense probably damaging 1.00
R4912:Krt76 UTSW 15 101888162 nonsense probably null
R5357:Krt76 UTSW 15 101887385 missense probably benign 0.04
R6738:Krt76 UTSW 15 101887478 missense probably benign 0.40
Z1088:Krt76 UTSW 15 101890551 missense probably damaging 1.00
Posted On2013-12-03