Incidental Mutation 'IGL01900:Krt6b'
ID 179501
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: 0.147) question?
Stock # IGL01900
Quality Score
Status
Chromosome 15
Chromosomal Location 101676023-101680287 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 101677546 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 364 (R364H)
Ref Sequence ENSEMBL: ENSMUSP00000023786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023786]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023786
AA Change: R364H

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023786
Gene: ENSMUSG00000023041
AA Change: R364H

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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430531B16Rik A T 7: 139,972,570 V274E probably damaging Het
Aoc2 T C 11: 101,328,823 Y627H probably damaging Het
Car14 T C 3: 95,901,221 D27G probably benign Het
Col6a3 A G 1: 90,795,010 probably null Het
Ddx60 T C 8: 62,000,709 probably benign Het
Dhrs4 A G 14: 55,488,197 E236G probably benign Het
Fpr1 T A 17: 17,877,521 T69S probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hmcn1 A T 1: 150,742,260 probably benign Het
Hook2 T C 8: 85,001,311 probably benign Het
Myh2 T A 11: 67,183,783 I720N probably benign Het
Olfr669 A G 7: 104,939,162 D212G probably damaging Het
Optc A G 1: 133,902,129 V181A possibly damaging Het
Ptprn A G 1: 75,252,248 probably benign Het
Rnf213 A G 11: 119,443,015 T3018A probably benign Het
Rps27l T A 9: 66,946,943 probably benign Het
Serpinb6c A T 13: 33,880,190 M294K possibly damaging Het
Tekt2 G T 4: 126,324,628 T83K probably benign Het
Vmn2r62 T A 7: 42,789,071 N114Y probably benign Het
Other mutations in Krt6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Krt6b APN 15 101679832 missense probably benign 0.22
IGL01653:Krt6b APN 15 101679114 missense probably damaging 1.00
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 2014-05-07