Incidental Mutation 'IGL00329:Krt72'
ID 4026
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 # IGL00329
Quality Score
Status
Chromosome 15
Chromosomal Location 101684607-101694895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101693434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 160 (Q160L)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
AlphaFold Q6IME9
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
Acad9 A G 3: 36,123,911 (GRCm39) N72S probably benign Het
Aopep T A 13: 63,338,977 (GRCm39) I623N probably damaging Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Arcn1 C A 9: 44,670,333 (GRCm39) E98* probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Col28a1 G T 6: 8,175,425 (GRCm39) T141K probably damaging Het
Dna2 T C 10: 62,802,222 (GRCm39) F811S probably damaging Het
Dusp19 T A 2: 80,461,269 (GRCm39) I186K probably damaging Het
Dync2li1 A G 17: 84,952,154 (GRCm39) D195G possibly damaging Het
Epm2aip1 T C 9: 111,101,855 (GRCm39) V276A possibly damaging Het
Extl3 T C 14: 65,313,070 (GRCm39) E704G probably benign Het
Gle1 T C 2: 29,829,301 (GRCm39) probably benign Het
Gm2178 C A 14: 26,235,767 (GRCm39) probably benign Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Herc2 T A 7: 55,774,047 (GRCm39) L1166Q probably damaging Het
Hsd11b2 A G 8: 106,249,759 (GRCm39) E290G probably benign Het
Inpp5d T C 1: 87,595,725 (GRCm39) V157A probably benign Het
Lrrd1 A G 5: 3,900,081 (GRCm39) K129E possibly damaging Het
Mapk13 A G 17: 28,995,379 (GRCm39) Y200C probably damaging Het
Mme G A 3: 63,287,749 (GRCm39) W750* probably null Het
Nat8l C T 5: 34,155,761 (GRCm39) P139L probably damaging Het
Nrtn C A 17: 57,058,569 (GRCm39) R144L probably benign Het
Or52h9 C A 7: 104,202,299 (GRCm39) P58T probably benign Het
Pate12 G A 9: 36,344,198 (GRCm39) probably benign Het
Pdgfa T A 5: 138,974,216 (GRCm39) probably benign Het
Rtp3 A G 9: 110,815,666 (GRCm39) V233A probably benign Het
Syne2 A G 12: 76,078,474 (GRCm39) probably benign Het
Trappc10 A T 10: 78,039,711 (GRCm39) probably benign Het
Usp24 A G 4: 106,216,288 (GRCm39) T380A probably benign Het
Vmn1r21 A T 6: 57,821,049 (GRCm39) S132T probably benign Het
Other mutations in Krt72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00568:Krt72 APN 15 101,689,450 (GRCm39) missense probably damaging 1.00
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 2012-04-20