Incidental Mutation 'IGL00596:Krt6a'
ID 4029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt6a
Ensembl Gene ENSMUSG00000058354
Gene Name keratin 6A
Synonyms Krt2-6a, MK6a, Krt2-6c, mK6[a]
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # IGL00596
Quality Score
Status
Chromosome 15
Chromosomal Location 101598363-101602740 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101602665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 7 (I7F)
Ref Sequence ENSEMBL: ENSMUSP00000023788 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023788]
AlphaFold P50446
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: 128,547,030 (GRCm39) N366K probably damaging Het
Adgrl3 G A 5: 81,794,314 (GRCm39) R445Q probably benign Het
Cc2d1b T C 4: 108,484,503 (GRCm39) I446T probably damaging Het
Cdhr2 A T 13: 54,868,810 (GRCm39) N591Y probably damaging Het
Cntnap5b A G 1: 100,306,886 (GRCm39) R868G possibly damaging Het
Dkk2 A T 3: 131,879,564 (GRCm39) D81V probably damaging Het
Dsg1c T A 18: 20,414,899 (GRCm39) probably benign Het
Dym T A 18: 75,252,320 (GRCm39) V362D probably benign Het
Epm2a A T 10: 11,324,384 (GRCm39) probably null Het
Grid2 G T 6: 64,510,688 (GRCm39) A773S possibly damaging Het
Iars2 A G 1: 185,048,151 (GRCm39) V527A probably benign Het
Kcnj16 T C 11: 110,915,349 (GRCm39) Y4H probably damaging Het
Myo6 T G 9: 80,189,025 (GRCm39) F757V possibly damaging Het
Nbeal1 T C 1: 60,220,900 (GRCm39) L13P probably damaging Het
Nr2c2 A T 6: 92,126,700 (GRCm39) K63M probably damaging Het
Pcdh15 G A 10: 74,466,576 (GRCm39) G1511D probably benign Het
Pomgnt2 A T 9: 121,812,191 (GRCm39) W197R probably benign Het
Rint1 G A 5: 24,016,863 (GRCm39) V543M probably damaging Het
Rnd2 G A 11: 101,362,017 (GRCm39) R190H possibly damaging Het
Sh3rf3 A G 10: 58,885,178 (GRCm39) S354G probably benign Het
Slc10a2 T C 8: 5,141,680 (GRCm39) I235V probably benign Het
Steap4 G A 5: 8,026,979 (GRCm39) R314H probably damaging Het
Ticrr A C 7: 79,327,041 (GRCm39) N583T probably damaging Het
Tmem25 T A 9: 44,706,816 (GRCm39) probably benign Het
Vps8 C T 16: 21,267,162 (GRCm39) probably benign Het
Xirp2 A G 2: 67,345,226 (GRCm39) K2489R probably benign Het
Xlr4b T A X: 72,263,577 (GRCm39) probably benign Het
Other mutations in Krt6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Krt6a APN 15 101,601,229 (GRCm39) missense probably damaging 1.00
PIT4468001:Krt6a UTSW 15 101,602,352 (GRCm39) missense probably damaging 0.98
R0024:Krt6a UTSW 15 101,599,150 (GRCm39) splice site probably benign
R0024:Krt6a UTSW 15 101,599,150 (GRCm39) splice site probably benign
R0811:Krt6a UTSW 15 101,601,183 (GRCm39) missense probably damaging 1.00
R0812:Krt6a UTSW 15 101,601,183 (GRCm39) missense probably damaging 1.00
R0828:Krt6a UTSW 15 101,602,271 (GRCm39) missense probably damaging 0.99
R0924:Krt6a UTSW 15 101,599,235 (GRCm39) splice site probably benign
R1525:Krt6a UTSW 15 101,602,637 (GRCm39) missense probably benign
R1591:Krt6a UTSW 15 101,600,792 (GRCm39) splice site probably null
R1725:Krt6a UTSW 15 101,600,992 (GRCm39) missense probably damaging 1.00
R1962:Krt6a UTSW 15 101,599,900 (GRCm39) missense probably damaging 1.00
R2201:Krt6a UTSW 15 101,601,606 (GRCm39) missense probably benign 0.41
R3024:Krt6a UTSW 15 101,599,724 (GRCm39) missense probably benign 0.02
R3158:Krt6a UTSW 15 101,599,801 (GRCm39) missense probably damaging 1.00
R5369:Krt6a UTSW 15 101,600,993 (GRCm39) missense probably benign 0.06
R5637:Krt6a UTSW 15 101,600,714 (GRCm39) missense probably benign 0.25
R6164:Krt6a UTSW 15 101,601,008 (GRCm39) missense probably damaging 0.99
R6320:Krt6a UTSW 15 101,600,744 (GRCm39) missense probably damaging 0.99
R6562:Krt6a UTSW 15 101,600,094 (GRCm39) missense probably benign 0.36
R7267:Krt6a UTSW 15 101,602,289 (GRCm39) missense probably benign 0.03
R7560:Krt6a UTSW 15 101,598,994 (GRCm39) missense unknown
R7621:Krt6a UTSW 15 101,600,187 (GRCm39) missense possibly damaging 0.92
R7671:Krt6a UTSW 15 101,598,978 (GRCm39) missense unknown
R8017:Krt6a UTSW 15 101,602,304 (GRCm39) missense probably damaging 1.00
R8019:Krt6a UTSW 15 101,602,304 (GRCm39) missense probably damaging 1.00
R8318:Krt6a UTSW 15 101,602,682 (GRCm39) start codon destroyed probably null 0.02
R8508:Krt6a UTSW 15 101,601,170 (GRCm39) missense probably damaging 1.00
R9183:Krt6a UTSW 15 101,601,446 (GRCm39) missense probably benign 0.03
R9652:Krt6a UTSW 15 101,599,120 (GRCm39) missense probably benign 0.35
X0067:Krt6a UTSW 15 101,602,212 (GRCm39) missense possibly damaging 0.83
Posted On 2012-04-20