Incidental Mutation 'IGL03260:Krt72'
ID414793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt72
Ensembl Gene ENSMUSG00000056605
Gene Namekeratin 72
SynonymsKrt72-ps, K6irs2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.099) question?
Stock #IGL03260
Quality Score
Status
Chromosome15
Chromosomal Location101776172-101786460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 101778273 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 413 (A413T)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: A413T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: A413T

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933406P04Rik A G 10: 20,311,325 probably benign Het
Abca12 A G 1: 71,284,099 L1608P probably damaging Het
Akr1b8 G T 6: 34,363,459 probably benign Het
Appbp2 A G 11: 85,216,457 V69A probably benign Het
Ces1e T C 8: 93,223,917 N79D probably benign Het
Cldn34b3 A G X: 76,266,873 T16A probably damaging Het
Frmd4b A T 6: 97,396,224 F103Y probably damaging Het
Ifi47 T C 11: 49,096,105 F233S probably damaging Het
Igkv8-30 A T 6: 70,117,355 M24K probably damaging Het
Lingo4 A G 3: 94,401,943 T63A probably benign Het
Naa35 T G 13: 59,627,885 S125A probably benign Het
Olfr5 A T 7: 6,480,659 C166S probably damaging Het
Olfr809 T C 10: 129,776,652 V261A probably damaging Het
Padi1 T C 4: 140,828,194 H240R probably benign Het
Ppp1r12a A G 10: 108,261,245 T240A probably benign Het
Ppp2ca A G 11: 52,113,148 N44S probably damaging Het
Prg4 T A 1: 150,455,627 probably benign Het
Rab33a A G X: 48,519,668 E23G probably benign Het
Scarb2 G T 5: 92,446,437 A422E probably damaging Het
Scn4b A T 9: 45,147,689 N86I probably damaging Het
Serpina1d G A 12: 103,763,849 T358I probably damaging Het
Slc12a3 T A 8: 94,333,242 I172N probably damaging Het
Slc18a1 T C 8: 69,075,114 E15G probably benign Het
Snx7 A G 3: 117,782,293 probably benign Het
Srpx T A X: 10,055,748 K216* probably null Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Unc13c A G 9: 73,931,344 S742P probably benign Het
Vmn2r104 C T 17: 20,042,821 C126Y probably benign Het
Vmn2r63 A T 7: 42,929,192 N92K probably damaging Het
Other mutations in Krt72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Krt72 APN 15 101784999 missense probably damaging 0.99
IGL00568:Krt72 APN 15 101781015 missense probably damaging 1.00
IGL00966:Krt72 APN 15 101780961 missense probably damaging 1.00
IGL01997:Krt72 APN 15 101784880 missense probably damaging 0.99
IGL02858:Krt72 APN 15 101782121 missense probably damaging 1.00
R0062:Krt72 UTSW 15 101786008 missense probably damaging 0.98
R0062:Krt72 UTSW 15 101786008 missense probably damaging 0.98
R0601:Krt72 UTSW 15 101786056 missense probably damaging 1.00
R0669:Krt72 UTSW 15 101778305 missense probably damaging 0.99
R1396:Krt72 UTSW 15 101786005 critical splice donor site probably null
R1501:Krt72 UTSW 15 101778334 missense probably damaging 1.00
R1598:Krt72 UTSW 15 101780253 missense probably benign 0.00
R1779:Krt72 UTSW 15 101780929 missense probably benign
R1796:Krt72 UTSW 15 101781552 splice site probably null
R4259:Krt72 UTSW 15 101778257 missense probably damaging 0.99
R4835:Krt72 UTSW 15 101781073 splice site probably null
R4871:Krt72 UTSW 15 101786034 missense probably damaging 1.00
R6246:Krt72 UTSW 15 101780937 missense probably damaging 1.00
R6513:Krt72 UTSW 15 101776752 critical splice acceptor site probably null
R6520:Krt72 UTSW 15 101781046 missense probably benign 0.01
Posted On2016-08-02