Incidental Mutation 'IGL00327:Krt6b'
ID 4031
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt6b
Ensembl Gene ENSMUSG00000023041
Gene Name keratin 6B
Synonyms Krt2-6b, mK6[b]
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.109) question?
Stock # IGL00327
Quality Score
Status
Chromosome 15
Chromosomal Location 101676023-101680287 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101679832 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 131 (Q131P)
Ref Sequence ENSEMBL: ENSMUSP00000023786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023786]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023786
AA Change: Q131P

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: Q131P

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 148 1.3e-36 PFAM
Filament 151 464 2.79e-175 SMART
low complexity region 483 537 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198940
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 A G 7: 101,300,160 L60S probably damaging Het
Aup1 A G 6: 83,056,409 E267G probably damaging Het
Bpi T C 2: 158,274,844 probably benign Het
Brinp2 A G 1: 158,247,100 Y484H probably benign Het
Colq C T 14: 31,535,588 probably null Het
Cubn T C 2: 13,427,056 D1242G possibly damaging Het
Dclre1c T A 2: 3,433,784 L95* probably null Het
Fry C T 5: 150,340,404 R171* probably null Het
Krt23 T C 11: 99,492,784 E94G probably damaging Het
Lonp1 A G 17: 56,619,265 L414P probably damaging Het
Lrit2 T A 14: 37,071,963 M328K probably benign Het
Lysmd3 C T 13: 81,665,078 L22F probably benign Het
Map3k20 A G 2: 72,412,170 D388G probably damaging Het
Mrpl44 C T 1: 79,781,004 L290F probably benign Het
Nell1 A G 7: 50,120,673 H160R probably damaging Het
Nlrc3 T C 16: 3,955,166 N109S probably damaging Het
Prpf40a T C 2: 53,150,688 T553A probably benign Het
Ptpn23 G T 9: 110,388,106 T894K probably benign Het
Scgb2b27 A G 7: 34,013,346 C24R probably damaging Het
Sipa1l3 G T 7: 29,354,133 H140N probably damaging Het
Slc22a23 T G 13: 34,305,245 D219A probably damaging Het
Slc9a7 T C X: 20,138,919 Y557C probably damaging Het
Slco1a1 A T 6: 141,909,125 I600N probably damaging Het
Tmx2 T C 2: 84,673,299 N190S probably benign Het
Tpr T G 1: 150,423,696 probably benign Het
Yme1l1 T C 2: 23,192,500 V501A probably benign Het
Other mutations in Krt6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01653:Krt6b APN 15 101679114 missense probably damaging 1.00
IGL01900:Krt6b APN 15 101677546 missense possibly damaging 0.45
IGL03187:Krt6b APN 15 101679957 missense probably benign
R0511:Krt6b UTSW 15 101677607 splice site probably benign
R0788:Krt6b UTSW 15 101677519 missense probably damaging 0.96
R1370:Krt6b UTSW 15 101677552 missense probably damaging 0.96
R1481:Krt6b UTSW 15 101678374 missense probably benign 0.05
R2007:Krt6b UTSW 15 101678127 missense probably damaging 1.00
R2112:Krt6b UTSW 15 101678564 missense possibly damaging 0.48
R2166:Krt6b UTSW 15 101678615 critical splice acceptor site probably null
R2227:Krt6b UTSW 15 101679122 missense probably damaging 0.96
R2495:Krt6b UTSW 15 101678322 missense probably damaging 1.00
R2496:Krt6b UTSW 15 101679781 missense probably damaging 1.00
R4726:Krt6b UTSW 15 101678085 missense probably damaging 0.98
R4969:Krt6b UTSW 15 101680025 missense possibly damaging 0.71
R6301:Krt6b UTSW 15 101678951 missense probably damaging 1.00
R6646:Krt6b UTSW 15 101677214 missense probably damaging 0.98
R7232:Krt6b UTSW 15 101678142 missense probably damaging 1.00
R7406:Krt6b UTSW 15 101679078 missense probably benign 0.04
R7414:Krt6b UTSW 15 101679014 missense probably benign 0.05
R7849:Krt6b UTSW 15 101678574 missense probably damaging 1.00
R8110:Krt6b UTSW 15 101680142 missense probably damaging 0.96
R8348:Krt6b UTSW 15 101678020 missense probably damaging 1.00
R8448:Krt6b UTSW 15 101678020 missense probably damaging 1.00
R8736:Krt6b UTSW 15 101678612 missense probably damaging 1.00
Z1177:Krt6b UTSW 15 101678332 missense probably damaging 1.00
Posted On 2012-04-20