Incidental Mutation 'IGL00329:Krt72'
ID4026
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: 0.090) question?
Stock #IGL00329
Quality Score
Status
Chromosome15
Chromosomal Location101776172-101786460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101784999 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 160 (Q160L)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: Q160L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: Q160L

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
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T A 13: 63,191,163 I623N probably damaging Het
Acad9 A G 3: 36,069,762 N72S probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Arcn1 C A 9: 44,759,036 E98* probably null Het
Col28a1 G T 6: 8,175,425 T141K probably damaging Het
Dna2 T C 10: 62,966,443 F811S probably damaging Het
Dusp19 T A 2: 80,630,925 I186K probably damaging Het
Dync2li1 A G 17: 84,644,726 D195G possibly damaging Het
Epm2aip1 T C 9: 111,272,787 V276A possibly damaging Het
Extl3 T C 14: 65,075,621 E704G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Gle1 T C 2: 29,939,289 probably benign Het
Gm2178 C A 14: 26,514,612 probably benign Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gm7257 G A 9: 36,432,902 probably benign Het
Herc2 T A 7: 56,124,299 L1166Q probably damaging Het
Hsd11b2 A G 8: 105,523,127 E290G probably benign Het
Inpp5d T C 1: 87,668,003 V157A probably benign Het
Lrrd1 A G 5: 3,850,081 K129E possibly damaging Het
Mapk13 A G 17: 28,776,405 Y200C probably damaging Het
Mme G A 3: 63,380,328 W750* probably null Het
Nat8l C T 5: 33,998,417 P139L probably damaging Het
Nrtn C A 17: 56,751,569 R144L probably benign Het
Olfr651 C A 7: 104,553,092 P58T probably benign Het
Pdgfa T A 5: 138,988,461 probably benign Het
Rtp3 A G 9: 110,986,598 V233A probably benign Het
Syne2 A G 12: 76,031,700 probably benign Het
Trappc10 A T 10: 78,203,877 probably benign Het
Usp24 A G 4: 106,359,091 T380A probably benign Het
Vmn1r21 A T 6: 57,844,064 S132T probably benign Het
Other mutations in Krt72
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03260:Krt72 APN 15 101778273 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 On2012-04-20