Incidental Mutation 'IGL02395:Krt83'
ID294294
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: 0.069) question?
Stock #IGL02395
Quality Score
Status
Chromosome15
Chromosomal Location101431490-101438804 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101487952 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 254 (D254G)
Ref Sequence ENSEMBL: ENSMUSP00000023718 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023718]
Predicted Effect probably benign
Transcript: ENSMUST00000023718
AA Change: D254G

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000023718
Gene: ENSMUSG00000067613
AA Change: D254G

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,480,960 C540S probably damaging Het
Cdk5 A G 5: 24,419,637 V252A possibly damaging Het
Ddi2 C T 4: 141,695,414 R329Q possibly damaging Het
Dennd2c T A 3: 103,157,765 F678I probably benign Het
Ect2 T C 3: 27,150,106 D18G probably damaging Het
Efcab11 C A 12: 99,854,609 probably null Het
Eri2 T C 7: 119,787,810 E162G probably damaging Het
Fam120b T C 17: 15,402,515 S252P probably damaging Het
Filip1 G A 9: 79,898,410 P21S probably benign Het
Kmt5b T A 19: 3,814,887 D627E probably benign Het
Man1a2 T C 3: 100,644,537 probably null Het
Mapk15 T C 15: 75,998,170 S380P probably benign Het
Mrpl48 G T 7: 100,546,344 probably benign Het
Nme8 T A 13: 19,677,908 I184L possibly damaging Het
Nrk A G X: 138,976,186 E712G probably damaging Het
Olfr1030 A G 2: 85,984,082 T81A possibly damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr1347 C T 7: 6,488,803 V17M possibly damaging Het
Olfr731 C A 14: 50,238,429 G152V probably damaging Het
Plekho1 A T 3: 95,995,564 Y36* probably null Het
Slco1a5 T A 6: 142,275,487 H11L probably damaging Het
Tiam2 T A 17: 3,421,481 M466K possibly damaging Het
Tmem214 G A 5: 30,872,746 A296T probably benign Het
Tnfrsf22 A T 7: 143,643,316 N95K probably damaging Het
Vmn1r90 T C 7: 14,561,897 Y92C probably damaging Het
Zc2hc1a T A 3: 7,528,624 L214* probably null Het
Zcchc17 C A 4: 130,337,127 V90F probably damaging Het
Zcchc7 T C 4: 44,761,868 probably benign Het
Zmiz1 T C 14: 25,656,763 V821A probably damaging Het
Other mutations in Krt83
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Krt83 APN 15 101488211 missense probably benign 0.17
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
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 On2015-04-16