Incidental Mutation 'IGL01943:Krt76'
ID 180919
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt76
Ensembl Gene ENSMUSG00000075402
Gene Name keratin 76
Synonyms 2310001L23Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01943
Quality Score
Status
Chromosome 15
Chromosomal Location 101884351-101892920 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101889045 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 293 (D293V)
Ref Sequence ENSEMBL: ENSMUSP00000097754 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100179]
AlphaFold Q3UV17
Predicted Effect probably null
Transcript: ENSMUST00000100179
AA Change: D293V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097754
Gene: ENSMUSG00000075402
AA Change: D293V

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16a A G 17: 35,096,483 K169E probably benign Het
Ago4 A G 4: 126,517,195 V167A probably damaging Het
AI314180 A G 4: 58,849,937 F429L possibly damaging Het
Bcam C T 7: 19,765,498 R200H probably damaging Het
Cblb G A 16: 52,139,633 probably null Het
Cdc37 T C 9: 21,143,113 E72G probably benign Het
Chek2 T A 5: 110,841,227 probably benign Het
Col6a1 A T 10: 76,719,123 probably null Het
Col7a1 A G 9: 108,984,016 probably null Het
Fmo3 C T 1: 162,967,006 R165H probably benign Het
Gm2663 C T 6: 40,996,076 G199D probably damaging Het
Gm6904 A T 14: 59,251,162 V62E probably damaging Het
Gm8108 T C 14: 4,127,217 S134P probably damaging Het
Kif1b A T 4: 149,214,905 probably null Het
Lifr T A 15: 7,188,149 C853S probably damaging Het
Muc5b A T 7: 141,861,497 I2727F possibly damaging Het
Myo7a T C 7: 98,065,647 K1606R possibly damaging Het
Noxred1 G T 12: 87,223,181 Q259K probably benign Het
Obox3 C T 7: 15,626,852 E121K probably benign Het
Olfr125 G A 17: 37,835,053 R18H probably benign Het
Olfr1388 T A 11: 49,444,188 C112* probably null Het
Olfr1449 T C 19: 12,935,674 L312S probably benign Het
Olfr348 T C 2: 36,787,083 I186T probably benign Het
Pkd2l2 T C 18: 34,417,036 F245L probably damaging Het
Pla2g6 T C 15: 79,313,116 Q86R probably null Het
Polq T A 16: 37,061,443 I1044K possibly damaging Het
Pomgnt2 G T 9: 121,982,470 T415N probably benign Het
Pprc1 T A 19: 46,064,544 probably benign Het
Prol1 T A 5: 88,327,961 M70K probably benign Het
Ptpn22 T A 3: 103,886,336 V601E probably benign Het
Slc16a3 T C 11: 120,956,883 probably null Het
Slco1b2 A G 6: 141,676,286 D489G possibly damaging Het
Sphk2 T C 7: 45,710,724 probably benign Het
Stat4 C T 1: 52,096,855 T441I possibly damaging Het
Tle1 A T 4: 72,122,402 V647E probably damaging Het
Tnrc6b C A 15: 80,927,695 Y814* probably null Het
Tubgcp3 A G 8: 12,654,301 F256S probably damaging Het
Uqcrb A T 13: 66,902,763 probably null Het
Vmn1r200 A T 13: 22,395,927 E300V possibly damaging Het
Zfp324 C T 7: 12,968,786 probably benign Het
Zxdc T C 6: 90,372,538 probably benign 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
IGL01506:Krt76 APN 15 101892400 missense probably damaging 0.97
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 2014-05-07