Incidental Mutation 'IGL00966:Krt72'
ID 29092
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 # IGL00966
Quality Score
Status
Chromosome 15
Chromosomal Location 101684607-101694895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101689396 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 312 (Y312F)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
AlphaFold Q6IME9
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: Y312F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: Y312F

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Sdr39u1 A G 14: 56,135,463 (GRCm39) V160A probably damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Krt72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00329:Krt72 APN 15 101,693,434 (GRCm39) missense probably damaging 0.99
IGL00568:Krt72 APN 15 101,689,450 (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 2013-04-17