Incidental Mutation 'IGL02313:Krt31'
ID287869
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt31
Ensembl Gene ENSMUSG00000048981
Gene Namekeratin 31
SynonymsHa1, Kha1, Krt1-1, MKHA-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02313
Quality Score
Status
Chromosome11
Chromosomal Location100046646-100050551 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100048396 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 232 (Y232H)
Ref Sequence ENSEMBL: ENSMUSP00000007318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007318]
Predicted Effect probably damaging
Transcript: ENSMUST00000007318
AA Change: Y232H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000007318
Gene: ENSMUSG00000048981
AA Change: Y232H

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Filament 55 366 2.14e-153 SMART
low complexity region 384 411 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136820
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Krt31
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02433:Krt31 APN 11 100048395 missense probably damaging 1.00
R0393:Krt31 UTSW 11 100050253 missense probably damaging 1.00
R0667:Krt31 UTSW 11 100048125 missense probably benign 0.02
R1224:Krt31 UTSW 11 100049864 critical splice donor site probably null
R1544:Krt31 UTSW 11 100047873 missense possibly damaging 0.48
R1891:Krt31 UTSW 11 100047808 missense probably damaging 0.98
R1940:Krt31 UTSW 11 100048243 missense probably benign 0.03
R1987:Krt31 UTSW 11 100049580 missense probably benign 0.00
R2761:Krt31 UTSW 11 100047865 missense probably benign 0.01
R2870:Krt31 UTSW 11 100047873 missense possibly damaging 0.82
R2870:Krt31 UTSW 11 100047873 missense possibly damaging 0.82
R3980:Krt31 UTSW 11 100048204 missense probably damaging 0.96
R4809:Krt31 UTSW 11 100049922 missense possibly damaging 0.89
R4822:Krt31 UTSW 11 100047784 missense possibly damaging 0.63
R4931:Krt31 UTSW 11 100050157 missense probably benign 0.05
R6146:Krt31 UTSW 11 100048230 missense probably benign 0.21
R6722:Krt31 UTSW 11 100048428 missense probably damaging 1.00
R6811:Krt31 UTSW 11 100048416 missense probably damaging 1.00
R6996:Krt31 UTSW 11 100047732 missense probably benign 0.19
R7300:Krt31 UTSW 11 100047786 missense probably damaging 0.96
R7548:Krt31 UTSW 11 100049520 missense probably damaging 0.98
X0028:Krt31 UTSW 11 100047708 missense probably damaging 1.00
Posted On2015-04-16