Incidental Mutation 'IGL00596:Krt6a'
ID4029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt6a
Ensembl Gene ENSMUSG00000058354
Gene Namekeratin 6A
SynonymsKrt2-6a, MK6a, mK6[a], Krt2-6c
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.328) question?
Stock #IGL00596
Quality Score
Status
Chromosome15
Chromosomal Location101689910-101694307 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 101694230 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 7 (I7F)
Ref Sequence ENSEMBL: ENSMUSP00000023788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023788]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023788
AA Change: I7F

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023788
Gene: ENSMUSG00000058354
AA Change: I7F

DomainStartEndE-ValueType
Pfam:Keratin_2_head 15 148 4.1e-36 PFAM
Filament 151 464 7.2e-178 SMART
low complexity region 483 551 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230205
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted null mutation exhibit delayed wound healing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,570,067 N366K probably damaging Het
Adgrl3 G A 5: 81,646,467 R445Q probably benign Het
Cc2d1b T C 4: 108,627,306 I446T probably damaging Het
Cdhr2 A T 13: 54,720,997 N591Y probably damaging Het
Cntnap5b A G 1: 100,379,161 R868G possibly damaging Het
Dkk2 A T 3: 132,173,803 D81V probably damaging Het
Dsg1c T A 18: 20,281,842 probably benign Het
Dym T A 18: 75,119,249 V362D probably benign Het
Epm2a A T 10: 11,448,640 probably null Het
Grid2 G T 6: 64,533,704 A773S possibly damaging Het
Iars2 A G 1: 185,315,954 V527A probably benign Het
Kcnj16 T C 11: 111,024,523 Y4H probably damaging Het
Myo6 T G 9: 80,281,743 F757V possibly damaging Het
Nbeal1 T C 1: 60,181,741 L13P probably damaging Het
Nr2c2 A T 6: 92,149,719 K63M probably damaging Het
Pcdh15 G A 10: 74,630,744 G1511D probably benign Het
Pomgnt2 A T 9: 121,983,125 W197R probably benign Het
Rint1 G A 5: 23,811,865 V543M probably damaging Het
Rnd2 G A 11: 101,471,191 R190H possibly damaging Het
Sh3rf3 A G 10: 59,049,356 S354G probably benign Het
Slc10a2 T C 8: 5,091,680 I235V probably benign Het
Steap4 G A 5: 7,976,979 R314H probably damaging Het
Ticrr A C 7: 79,677,293 N583T probably damaging Het
Tmem25 T A 9: 44,795,519 probably benign Het
Vps8 C T 16: 21,448,412 probably benign Het
Xirp2 A G 2: 67,514,882 K2489R probably benign Het
Xlr4b T A X: 73,219,971 probably benign Het
Other mutations in Krt6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Krt6a APN 15 101692794 missense probably damaging 1.00
PIT4468001:Krt6a UTSW 15 101693917 missense probably damaging 0.98
R0024:Krt6a UTSW 15 101690715 splice site probably benign
R0024:Krt6a UTSW 15 101690715 splice site probably benign
R0811:Krt6a UTSW 15 101692748 missense probably damaging 1.00
R0812:Krt6a UTSW 15 101692748 missense probably damaging 1.00
R0828:Krt6a UTSW 15 101693836 missense probably damaging 0.99
R0924:Krt6a UTSW 15 101690800 splice site probably benign
R1525:Krt6a UTSW 15 101694202 missense probably benign
R1591:Krt6a UTSW 15 101692357 splice site probably null
R1725:Krt6a UTSW 15 101692557 missense probably damaging 1.00
R1962:Krt6a UTSW 15 101691465 missense probably damaging 1.00
R2201:Krt6a UTSW 15 101693171 missense probably benign 0.41
R3024:Krt6a UTSW 15 101691289 missense probably benign 0.02
R3158:Krt6a UTSW 15 101691366 missense probably damaging 1.00
R5369:Krt6a UTSW 15 101692558 missense probably benign 0.06
R5637:Krt6a UTSW 15 101692279 missense probably benign 0.25
R6164:Krt6a UTSW 15 101692573 missense probably damaging 0.99
R6320:Krt6a UTSW 15 101692309 missense probably damaging 0.99
R6562:Krt6a UTSW 15 101691659 missense probably benign 0.36
X0067:Krt6a UTSW 15 101693777 missense possibly damaging 0.83
Posted On2012-04-20