Incidental Mutation 'IGL01506:Krt76'
ID 89068
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 # IGL01506
Quality Score
Chromosome 15
Chromosomal Location 101792786-101801355 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101800835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 154 (I154V)
Ref Sequence ENSEMBL: ENSMUSP00000097754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100179]
AlphaFold Q3UV17
Predicted Effect probably damaging
Transcript: ENSMUST00000100179
AA Change: I154V

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: I154V

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,247,447 (GRCm39) V2398A probably benign Het
Abhd2 T A 7: 78,975,200 (GRCm39) I130N possibly damaging Het
Adamts15 A T 9: 30,833,430 (GRCm39) I35N probably benign Het
Car8 T A 4: 8,169,761 (GRCm39) E249V probably damaging Het
Dpp8 A G 9: 64,970,699 (GRCm39) probably benign Het
Gstm2 T G 3: 107,892,559 (GRCm39) probably null Het
Kcnmb4 A G 10: 116,309,251 (GRCm39) V59A probably benign Het
Lama1 G A 17: 68,092,065 (GRCm39) R1646H probably benign Het
Larp1b C A 3: 40,987,875 (GRCm39) Y32* probably null Het
Magea4 G A X: 71,266,376 (GRCm39) D252N probably damaging Het
Mat1a C A 14: 40,831,395 (GRCm39) A41E probably damaging Het
Neb A T 2: 52,137,202 (GRCm39) V3190E probably damaging Het
Nop53 G A 7: 15,674,082 (GRCm39) P249L probably damaging Het
Or8b44 A G 9: 38,410,171 (GRCm39) I69V probably benign Het
Osbpl7 T C 11: 96,943,126 (GRCm39) L126P probably benign Het
Plxna4 A T 6: 32,493,470 (GRCm39) L382Q probably damaging Het
Poli G A 18: 70,642,802 (GRCm39) T403I probably benign Het
Slc44a2 T C 9: 21,249,246 (GRCm39) Y9H probably benign Het
Snx4 T C 16: 33,084,624 (GRCm39) probably benign Het
Son A T 16: 91,454,174 (GRCm39) I974L possibly damaging Het
Stil T C 4: 114,881,309 (GRCm39) S618P probably benign Het
Syndig1 C T 2: 149,741,677 (GRCm39) R88C probably damaging Het
Trpm1 T A 7: 63,893,329 (GRCm39) F944L 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
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 2013-12-03