Incidental Mutation 'IGL00568:Krt72'
ID 11696
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt72
Ensembl Gene ENSMUSG00000056605
Gene Name keratin 72
Synonyms Krt72-ps, K6irs2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # IGL00568
Quality Score
Status
Chromosome 15
Chromosomal Location 101684607-101694895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 101689450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 294 (D294G)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
AlphaFold Q6IME9
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: D294G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: D294G

DomainStartEndE-ValueType
Pfam:Keratin_2_head 59 130 3.1e-17 PFAM
Filament 133 446 6.9e-157 SMART
low complexity region 454 462 N/A INTRINSIC
low complexity region 465 481 N/A INTRINSIC
low complexity region 507 519 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127671
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. The type II keratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This gene encodes a type II keratin that is specifically expressed in the inner root sheath of hair follicles. The type II keratins are clustered in a region of chromosome 12q12-q13. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cckar T A 5: 53,864,643 (GRCm39) E19D probably benign Het
Col12a1 A G 9: 79,558,759 (GRCm39) L1902P probably damaging Het
Jam2 A G 16: 84,619,712 (GRCm39) probably benign Het
Lancl2 T C 6: 57,700,470 (GRCm39) probably benign Het
Mpz A G 1: 170,987,571 (GRCm39) K236E possibly damaging Het
Ndufs4 A T 13: 114,444,406 (GRCm39) M124K probably null Het
Ovch2 C A 7: 107,388,297 (GRCm39) D428Y probably null Het
Pcna-ps2 C A 19: 9,261,290 (GRCm39) S183* probably null Het
Pgbd1 A C 13: 21,607,423 (GRCm39) L257* probably null Het
Tlr12 G A 4: 128,511,215 (GRCm39) T345M probably benign Het
Tnrc18 T C 5: 142,748,792 (GRCm39) N1300D unknown Het
Other mutations in Krt72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Krt72 APN 15 101,693,434 (GRCm39) missense probably damaging 0.99
IGL00966:Krt72 APN 15 101,689,396 (GRCm39) missense probably damaging 1.00
IGL01997:Krt72 APN 15 101,693,315 (GRCm39) missense probably damaging 0.99
IGL02858:Krt72 APN 15 101,690,556 (GRCm39) missense probably damaging 1.00
IGL03260:Krt72 APN 15 101,686,708 (GRCm39) missense probably damaging 1.00
R0062:Krt72 UTSW 15 101,694,443 (GRCm39) missense probably damaging 0.98
R0062:Krt72 UTSW 15 101,694,443 (GRCm39) missense probably damaging 0.98
R0601:Krt72 UTSW 15 101,694,491 (GRCm39) missense probably damaging 1.00
R0669:Krt72 UTSW 15 101,686,740 (GRCm39) missense probably damaging 0.99
R1396:Krt72 UTSW 15 101,694,440 (GRCm39) critical splice donor site probably null
R1501:Krt72 UTSW 15 101,686,769 (GRCm39) missense probably damaging 1.00
R1598:Krt72 UTSW 15 101,688,688 (GRCm39) missense probably benign 0.00
R1779:Krt72 UTSW 15 101,689,364 (GRCm39) missense probably benign
R1796:Krt72 UTSW 15 101,689,987 (GRCm39) splice site probably null
R4259:Krt72 UTSW 15 101,686,692 (GRCm39) missense probably damaging 0.99
R4835:Krt72 UTSW 15 101,689,508 (GRCm39) splice site probably null
R4871:Krt72 UTSW 15 101,694,469 (GRCm39) missense probably damaging 1.00
R6246:Krt72 UTSW 15 101,689,372 (GRCm39) missense probably damaging 1.00
R6513:Krt72 UTSW 15 101,685,187 (GRCm39) critical splice acceptor site probably null
R6520:Krt72 UTSW 15 101,689,481 (GRCm39) missense probably benign 0.01
R8294:Krt72 UTSW 15 101,694,472 (GRCm39) missense probably damaging 1.00
R8324:Krt72 UTSW 15 101,690,580 (GRCm39) missense probably damaging 1.00
R8476:Krt72 UTSW 15 101,686,701 (GRCm39) missense probably damaging 0.97
R8982:Krt72 UTSW 15 101,690,059 (GRCm39) missense possibly damaging 0.81
R9054:Krt72 UTSW 15 101,694,836 (GRCm39) missense probably damaging 0.99
R9679:Krt72 UTSW 15 101,685,152 (GRCm39) missense probably damaging 1.00
Z1177:Krt72 UTSW 15 101,686,743 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06