Incidental Mutation 'IGL00481:Krt83'
ID5809
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt83
Ensembl Gene ENSMUSG00000047641
Gene Namekeratin 83
SynonymsKrt2-25
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL00481
Quality Score
Status
Chromosome15
Chromosomal Location101431490-101438804 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101488211 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 223 (L223Q)
Ref Sequence ENSEMBL: ENSMUSP00000023718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023718]
Predicted Effect probably benign
Transcript: ENSMUST00000023718
AA Change: L223Q

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: L223Q

DomainStartEndE-ValueType
Pfam:Keratin_2_head 2 100 5.9e-16 PFAM
Filament 103 414 7.02e-149 SMART
low complexity region 422 436 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230173
Meta Mutation Damage Score 0.4473 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931440F15Rik A G 11: 29,824,755 L234P probably damaging Het
9230110C19Rik T C 9: 8,042,431 Y57C probably damaging Het
Abca13 T C 11: 9,290,969 L944P probably damaging Het
Akap13 A G 7: 75,723,895 S1885G probably damaging Het
Aqp3 A G 4: 41,093,632 Y261H probably damaging Het
Arap2 A T 5: 62,635,962 N1380K probably damaging Het
Arntl2 T A 6: 146,809,666 M56K probably benign Het
Barx2 T C 9: 31,846,845 I266V unknown Het
BC034090 C T 1: 155,232,521 R360H probably benign Het
Ccnb2 T C 9: 70,418,907 K52E probably damaging Het
Ccp110 G A 7: 118,729,997 V868I possibly damaging Het
Cyld G T 8: 88,707,290 V236F probably damaging Het
Dst T C 1: 34,169,329 probably benign Het
Ehmt1 G T 2: 24,838,818 A637E possibly damaging Het
Erlin1 G T 19: 44,069,319 Y22* probably null Het
Ezh1 A T 11: 101,199,302 M539K possibly damaging Het
Fam160b1 A G 19: 57,381,345 E440G probably benign Het
Fancc A T 13: 63,400,245 I80N probably damaging Het
Fat1 G A 8: 45,050,940 S4447N probably benign Het
Frem3 A G 8: 80,668,810 Q1822R possibly damaging Het
Iqgap1 C T 7: 80,759,844 V248I probably benign Het
Itch T C 2: 155,213,023 I749T probably damaging Het
Kcna10 T A 3: 107,195,514 M487K probably benign Het
Mtmr2 T C 9: 13,785,916 I84T probably benign Het
Myocd G A 11: 65,187,154 T477M probably damaging Het
Nfic A T 10: 81,408,220 V240E possibly damaging Het
Olfr463 A G 11: 87,893,621 I101T possibly damaging Het
Prkdc A T 16: 15,790,466 Y3044F probably benign Het
Prkg1 A G 19: 30,571,622 I636T probably benign Het
Ptpru A G 4: 131,808,235 V477A probably benign Het
Rab7b T A 1: 131,698,591 M119K possibly damaging Het
Sec61a1 T C 6: 88,506,940 probably benign Het
Sectm1b A G 11: 121,055,973 V32A probably benign Het
Shroom2 A G X: 152,623,223 S1034P probably benign Het
Sipa1l3 A T 7: 29,386,108 I688N probably damaging Het
Slc24a1 T C 9: 64,928,019 Y942C probably damaging Het
Smg1 C T 7: 118,210,794 R139K possibly damaging Het
Stt3b G A 9: 115,251,847 T574I probably benign Het
Thoc2 A G X: 41,879,891 I76T possibly damaging Het
Tpm3 C T 3: 90,087,717 T180M probably damaging Het
Uqcrfs1 C A 13: 30,540,925 V211F probably benign Het
Usp47 A G 7: 112,074,783 S418G probably benign Het
Usp5 T C 6: 124,829,353 T15A probably benign Het
Vps13c T C 9: 67,860,865 L122P probably damaging Het
Zfp677 A T 17: 21,397,668 E329V probably benign Het
Zfyve16 A T 13: 92,516,538 N846K possibly damaging Het
Zp1 G T 19: 10,918,777 P195T probably damaging Het
Other mutations in Krt83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01315:Krt83 APN 15 101486967 splice site probably benign
IGL01702:Krt83 APN 15 101491218 missense probably benign 0.18
IGL02123:Krt83 APN 15 101487585 missense possibly damaging 0.49
IGL02353:Krt83 APN 15 101485458 missense probably benign
IGL02360:Krt83 APN 15 101485458 missense probably benign
IGL02395:Krt83 APN 15 101487952 missense probably benign 0.18
IGL02633:Krt83 APN 15 101491214 missense probably damaging 1.00
R0357:Krt83 UTSW 15 101487019 missense probably benign 0.17
R0650:Krt83 UTSW 15 101487040 missense probably damaging 0.99
R0928:Krt83 UTSW 15 101491280 missense probably benign 0.00
R1126:Krt83 UTSW 15 101487482 missense probably damaging 0.98
R1196:Krt83 UTSW 15 101491433 missense probably benign 0.03
R1252:Krt83 UTSW 15 101487830 missense probably damaging 1.00
R1513:Krt83 UTSW 15 101489657 missense probably benign 0.30
R1612:Krt83 UTSW 15 101488211 missense probably benign 0.17
R1870:Krt83 UTSW 15 101487190 missense probably benign
R2173:Krt83 UTSW 15 101487937 missense probably damaging 0.98
R2432:Krt83 UTSW 15 101488156 nonsense probably null
R2568:Krt83 UTSW 15 101487827 missense possibly damaging 0.67
R2696:Krt83 UTSW 15 101487009 missense probably benign 0.01
R3508:Krt83 UTSW 15 101488158 missense probably benign 0.04
R4364:Krt83 UTSW 15 101487514 missense probably benign
R4366:Krt83 UTSW 15 101487514 missense probably benign
R4606:Krt83 UTSW 15 101487049 missense probably benign 0.18
R4721:Krt83 UTSW 15 101487982 missense probably damaging 1.00
R4784:Krt83 UTSW 15 101487956 missense probably damaging 1.00
R4987:Krt83 UTSW 15 101487009 missense probably benign
R5008:Krt83 UTSW 15 101491224 missense probably damaging 1.00
R5101:Krt83 UTSW 15 101487510 missense probably benign 0.14
R5367:Krt83 UTSW 15 101486994 missense probably damaging 1.00
R5516:Krt83 UTSW 15 101487121 nonsense probably null
R5949:Krt83 UTSW 15 101487595 missense probably damaging 0.99
R5972:Krt83 UTSW 15 101487586 missense probably benign
R6036:Krt83 UTSW 15 101487531 missense possibly damaging 0.78
R6036:Krt83 UTSW 15 101487531 missense possibly damaging 0.78
R6135:Krt83 UTSW 15 101487534 missense probably damaging 1.00
R7151:Krt83 UTSW 15 101489648 missense probably damaging 1.00
R7186:Krt83 UTSW 15 101487202 splice site probably null
R7297:Krt83 UTSW 15 101489647 missense probably benign 0.42
R7708:Krt83 UTSW 15 101487932 missense probably benign 0.00
R7796:Krt83 UTSW 15 101485984 missense possibly damaging 0.95
R8172:Krt83 UTSW 15 101485403 missense probably benign 0.25
Posted On2012-04-20