Incidental Mutation 'IGL01997:Krt72'
ID182097
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 #IGL01997
Quality Score
Status
Chromosome15
Chromosomal Location101776172-101786460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101784880 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 200 (S200P)
Ref Sequence ENSEMBL: ENSMUSP00000065922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071104]
Predicted Effect probably damaging
Transcript: ENSMUST00000071104
AA Change: S200P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000065922
Gene: ENSMUSG00000056605
AA Change: S200P

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G A 1: 179,755,462 T83I probably damaging Het
Aoah A T 13: 20,999,938 M391L probably benign Het
Apc A G 18: 34,315,423 T1757A probably benign Het
B4galt5 A G 2: 167,301,341 Y388H probably benign Het
Cyp3a25 A T 5: 145,994,956 M114K possibly damaging Het
Dcbld1 A G 10: 52,317,110 E246G probably damaging Het
Fstl4 T A 11: 53,163,054 Y404* probably null Het
Gnat3 G T 5: 17,999,723 E125* probably null Het
Hspa5 C T 2: 34,772,315 probably benign Het
Mab21l3 G A 3: 101,818,639 T347I probably damaging Het
Map2k7 A G 8: 4,243,442 E104G probably benign Het
Map3k9 T C 12: 81,772,697 D261G probably damaging Het
Mepe C T 5: 104,337,600 P202L probably damaging Het
Mill1 G A 7: 18,255,889 G32D probably damaging Het
Mmp20 T G 9: 7,639,260 M143R probably benign Het
Mms19 A T 19: 41,956,531 L302H probably damaging Het
Myh13 T A 11: 67,367,166 I1728K probably benign Het
Nsun2 C T 13: 69,623,246 P290L probably damaging Het
Nwd2 A T 5: 63,804,595 R507S probably damaging Het
Os9 T A 10: 127,119,443 H147L probably benign Het
Piezo1 T C 8: 122,488,331 probably benign Het
Plekhf1 A T 7: 38,221,328 V272D probably damaging Het
Pnisr T C 4: 21,871,537 I419T possibly damaging Het
Ppp1r3d G T 2: 178,413,654 T185K possibly damaging Het
Ppp2r2a C T 14: 67,016,519 S400N probably benign Het
Rpl21 T C 5: 146,835,608 I96T probably benign Het
S1pr3 C T 13: 51,419,715 R311W probably damaging Het
Senp5 T C 16: 31,963,470 K736R probably damaging Het
Slfn9 T C 11: 82,987,677 I209V possibly damaging Het
Traf3ip1 T A 1: 91,507,570 probably null Het
Tyk2 A G 9: 21,110,494 F879L probably damaging Het
Vmn2r53 T C 7: 12,582,446 D482G possibly damaging Het
Vmn2r65 A G 7: 84,940,770 F646S probably damaging Het
Vps13b T A 15: 35,709,224 S1772R probably damaging Het
Vwde C T 6: 13,215,706 C117Y probably damaging Het
Zfyve26 T C 12: 79,244,400 I2144V probably benign 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
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 On2014-05-07