Incidental Mutation 'IGL01820:Krt82'
ID154529
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt82
Ensembl Gene ENSMUSG00000049548
Gene Namekeratin 82
SynonymsKrt2-20
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock #IGL01820
Quality Score
Status
Chromosome15
Chromosomal Location101541214-101550667 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 101543452 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000023713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023713]
Predicted Effect probably benign
Transcript: ENSMUST00000023713
SMART Domains Protein: ENSMUSP00000023713
Gene: ENSMUSG00000049548

DomainStartEndE-ValueType
low complexity region 38 57 N/A INTRINSIC
Pfam:Keratin_2_head 61 114 6.1e-13 PFAM
Filament 117 428 1.32e-153 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this keratin appears to be a hair cuticle-specific keratin. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,715,896 probably benign Het
Adcy2 T C 13: 68,738,545 probably null Het
Akna G T 4: 63,386,258 T553N probably benign Het
Boc A G 16: 44,491,872 I609T possibly damaging Het
Btbd9 C T 17: 30,527,409 V148I possibly damaging Het
Cacna1d A T 14: 30,042,866 I2049N possibly damaging Het
Cdhr1 A T 14: 37,085,579 M368K probably benign Het
Cftr A G 6: 18,226,139 Y362C probably damaging Het
Cnppd1 G T 1: 75,139,592 probably null Het
Col3a1 T C 1: 45,321,608 I66T unknown Het
Col5a2 C A 1: 45,442,825 M46I unknown Het
Csmd3 G T 15: 47,607,142 C3379* probably null Het
Ctla2b T A 13: 60,896,689 *28C probably null Het
Ddhd2 C T 8: 25,749,754 E33K possibly damaging Het
Dock3 T C 9: 106,895,893 H387R probably damaging Het
Dyrk1b T A 7: 28,181,600 probably benign Het
Fam131c T C 4: 141,380,337 C53R probably damaging Het
Fat1 T A 8: 45,010,502 F1360L probably damaging Het
Gm10320 G T 13: 98,489,537 S113* probably null Het
Ifih1 T C 2: 62,617,313 D349G probably damaging Het
Il12a T C 3: 68,692,162 probably benign Het
Ivl A T 3: 92,571,633 M375K possibly damaging Het
Mc4r C T 18: 66,859,155 V296I probably benign Het
Met T A 6: 17,534,231 I691N possibly damaging Het
Mycbp2 A T 14: 103,188,501 I2396K probably damaging Het
Napg C A 18: 62,986,445 Q135K probably benign Het
Nf2 A T 11: 4,789,655 probably null Het
Nrxn1 G T 17: 90,643,103 H549Q probably damaging Het
P4ha1 T A 10: 59,361,914 I321K probably damaging Het
Prl5a1 T C 13: 28,148,700 S94P probably benign Het
Prnp T C 2: 131,937,070 V214A probably benign Het
Ptprc A T 1: 138,066,198 F1165I probably damaging Het
Rdh10 T C 1: 16,128,259 V207A possibly damaging Het
Rel A T 11: 23,753,218 N131K probably benign Het
Rgs14 A T 13: 55,383,525 D448V probably benign Het
Spag5 T G 11: 78,304,259 S131A probably benign Het
Styxl1 C T 5: 135,765,750 D88N probably damaging Het
Tlr3 C T 8: 45,398,339 R507H probably benign Het
Ttn C T 2: 76,786,326 E16528K possibly damaging Het
Txlnb T C 10: 17,806,858 probably null Het
Unc13a A G 8: 71,654,947 V567A probably damaging Het
Vmn1r8 T C 6: 57,036,668 S235P possibly damaging Het
Vmn2r51 T A 7: 10,105,482 N60Y probably damaging Het
Wbp1l T A 19: 46,652,483 L68Q probably damaging Het
Wdfy3 A T 5: 101,924,081 V981E probably benign Het
Zdhhc13 T C 7: 48,808,865 S316P probably damaging Het
Zfp516 C T 18: 82,987,361 R797C probably benign Het
Zp3r A G 1: 130,598,920 V182A probably benign Het
Other mutations in Krt82
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Krt82 APN 15 101543378 missense probably damaging 0.97
IGL01112:Krt82 APN 15 101545523 missense probably damaging 1.00
IGL02529:Krt82 APN 15 101550396 nonsense probably null
IGL02894:Krt82 APN 15 101542720 missense probably damaging 1.00
IGL02974:Krt82 APN 15 101550585 nonsense probably null
IGL03263:Krt82 APN 15 101541872 missense probably benign 0.00
R0268:Krt82 UTSW 15 101541713 missense probably benign 0.02
R0385:Krt82 UTSW 15 101545593 missense probably damaging 1.00
R0542:Krt82 UTSW 15 101545600 splice site probably benign
R1073:Krt82 UTSW 15 101550254 missense probably damaging 1.00
R1601:Krt82 UTSW 15 101545153 missense probably damaging 1.00
R1795:Krt82 UTSW 15 101543384 missense possibly damaging 0.90
R1944:Krt82 UTSW 15 101548535 missense probably damaging 1.00
R1974:Krt82 UTSW 15 101545162 missense probably benign 0.00
R2049:Krt82 UTSW 15 101545156 missense probably damaging 0.96
R2140:Krt82 UTSW 15 101545156 missense probably damaging 0.96
R2851:Krt82 UTSW 15 101548435 missense probably damaging 1.00
R2852:Krt82 UTSW 15 101548435 missense probably damaging 1.00
R2853:Krt82 UTSW 15 101548435 missense probably damaging 1.00
R3815:Krt82 UTSW 15 101550600 missense probably damaging 1.00
R4324:Krt82 UTSW 15 101541747 missense probably benign 0.00
R4798:Krt82 UTSW 15 101550488 missense probably benign 0.01
R4980:Krt82 UTSW 15 101545099 missense possibly damaging 0.85
R5212:Krt82 UTSW 15 101545049 missense probably damaging 1.00
R5260:Krt82 UTSW 15 101548388 missense possibly damaging 0.88
R5821:Krt82 UTSW 15 101548385 nonsense probably null
R6009:Krt82 UTSW 15 101545105 missense probably benign 0.00
R6955:Krt82 UTSW 15 101542849 missense probably damaging 1.00
R7194:Krt82 UTSW 15 101542756 missense probably damaging 1.00
R7307:Krt82 UTSW 15 101542907 missense probably damaging 0.97
R7420:Krt82 UTSW 15 101545587 missense probably damaging 0.96
R7837:Krt82 UTSW 15 101548357 missense possibly damaging 0.86
R8354:Krt82 UTSW 15 101541803 missense probably damaging 1.00
R8371:Krt82 UTSW 15 101545111 missense probably benign 0.12
R8454:Krt82 UTSW 15 101541803 missense probably damaging 1.00
Z1176:Krt82 UTSW 15 101541852 missense probably benign 0.00
Posted On2014-02-04