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
Status
Chromosome 15
Chromosomal Location 101884351-101892920 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101892400 bp (GRCm38)
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

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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,297,447 V2398A probably benign Het
Abhd2 T A 7: 79,325,452 I130N possibly damaging Het
Adamts15 A T 9: 30,922,134 I35N probably benign Het
Car8 T A 4: 8,169,761 E249V probably damaging Het
Dpp8 A G 9: 65,063,417 probably benign Het
Gstm2 T G 3: 107,985,243 probably null Het
Kcnmb4 A G 10: 116,473,346 V59A probably benign Het
Lama1 G A 17: 67,785,070 R1646H probably benign Het
Larp1b C A 3: 41,033,440 Y32* probably null Het
Magea4 G A X: 72,222,770 D252N probably damaging Het
Mat1a C A 14: 41,109,438 A41E probably damaging Het
Neb A T 2: 52,247,190 V3190E probably damaging Het
Nop53 G A 7: 15,940,157 P249L probably damaging Het
Olfr907 A G 9: 38,498,875 I69V probably benign Het
Osbpl7 T C 11: 97,052,300 L126P probably benign Het
Plxna4 A T 6: 32,516,535 L382Q probably damaging Het
Poli G A 18: 70,509,731 T403I probably benign Het
Slc44a2 T C 9: 21,337,950 Y9H probably benign Het
Snx4 T C 16: 33,264,254 probably benign Het
Son A T 16: 91,657,286 I974L possibly damaging Het
Stil T C 4: 115,024,112 S618P probably benign Het
Syndig1 C T 2: 149,899,757 R88C probably damaging Het
Trpm1 T A 7: 64,243,581 F944L 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
IGL01504:Krt76 APN 15 101888173 missense probably damaging 1.00
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
R7786:Krt76 UTSW 15 101890530 missense probably damaging 0.98
R7808:Krt76 UTSW 15 101890494 missense probably damaging 1.00
R7825:Krt76 UTSW 15 101887503 missense possibly damaging 0.46
R8079:Krt76 UTSW 15 101888390 missense possibly damaging 0.61
R8846:Krt76 UTSW 15 101887337 missense probably damaging 1.00
R8980:Krt76 UTSW 15 101892555 missense unknown
Z1088:Krt76 UTSW 15 101890551 missense probably damaging 1.00
Posted On 2013-12-03