Incidental Mutation 'IGL02031:Krt34'
ID 184357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt34
Ensembl Gene ENSMUSG00000043485
Gene Name keratin 34
Synonyms 4733401E01Rik, Krt1-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # IGL02031
Quality Score
Status
Chromosome 11
Chromosomal Location 99928173-99932380 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 99929849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 216 (A216S)
Ref Sequence ENSEMBL: ENSMUSP00000056622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056362]
AlphaFold Q9D646
Predicted Effect possibly damaging
Transcript: ENSMUST00000056362
AA Change: A216S

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: A216S

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Filament 55 366 7.76e-151 SMART
low complexity region 378 392 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the keratin gene family. As a type I hair keratin, it is an acidic protein which heterodimerizes with type II keratins to form hair and nails. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aipl1 T C 11: 71,921,028 (GRCm39) probably benign Het
Akap11 T C 14: 78,751,253 (GRCm39) D378G possibly damaging Het
Ankrd33b A T 15: 31,325,329 (GRCm39) F129L probably damaging Het
Apob A G 12: 8,065,222 (GRCm39) K4064E probably benign Het
Arhgef10l T C 4: 140,302,656 (GRCm39) D506G probably damaging Het
Arid4b A C 13: 14,327,997 (GRCm39) probably benign Het
Ccdc88c A T 12: 100,899,570 (GRCm39) Y1263N probably damaging Het
Ckap5 T C 2: 91,443,117 (GRCm39) L1697P possibly damaging Het
Cplane1 T C 15: 8,209,253 (GRCm39) F230S probably damaging Het
Cpxm1 C T 2: 130,235,601 (GRCm39) V464M probably damaging Het
Dhrs7c A G 11: 67,706,715 (GRCm39) E291G probably benign Het
Dst C A 1: 34,228,998 (GRCm39) P1872H possibly damaging Het
G6pc2 G A 2: 69,053,335 (GRCm39) A130T probably benign Het
Gm4847 A G 1: 166,462,578 (GRCm39) V304A probably damaging Het
Gm8267 T C 14: 44,955,374 (GRCm39) D155G possibly damaging Het
Kank1 G A 19: 25,388,066 (GRCm39) V580I probably benign Het
Kcnh4 A G 11: 100,636,649 (GRCm39) S757P probably damaging Het
Mfhas1 A T 8: 36,056,526 (GRCm39) I334F probably damaging Het
Mrgprb8 A G 7: 48,039,087 (GRCm39) M253V probably benign Het
Or52n4b A T 7: 108,144,137 (GRCm39) H133L probably benign Het
Pp2d1 T A 17: 53,815,468 (GRCm39) T419S probably damaging Het
Pprc1 T A 19: 46,060,782 (GRCm39) probably benign Het
Reln A G 5: 22,184,014 (GRCm39) S1662P probably damaging Het
Sema7a G A 9: 57,862,423 (GRCm39) E209K possibly damaging Het
Serinc2 C T 4: 130,158,237 (GRCm39) W15* probably null Het
Serpina3k A G 12: 104,311,525 (GRCm39) T368A probably benign Het
Setd3 A T 12: 108,129,289 (GRCm39) W54R probably damaging Het
Slc9c1 G A 16: 45,419,833 (GRCm39) S1001N probably benign Het
Snapc3 A G 4: 83,336,213 (GRCm39) D75G probably benign Het
Spata31e2 A G 1: 26,724,104 (GRCm39) Y359H probably damaging Het
Stard9 T C 2: 120,532,820 (GRCm39) S333P probably benign Het
Utrn T C 10: 12,610,948 (GRCm39) D469G probably damaging Het
Other mutations in Krt34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Krt34 APN 11 99,929,520 (GRCm39) splice site probably benign
IGL01323:Krt34 APN 11 99,929,606 (GRCm39) missense possibly damaging 0.95
IGL01403:Krt34 APN 11 99,929,116 (GRCm39) missense possibly damaging 0.88
IGL01453:Krt34 APN 11 99,930,916 (GRCm39) missense probably damaging 1.00
IGL02831:Krt34 APN 11 99,930,973 (GRCm39) splice site probably benign
R0024:Krt34 UTSW 11 99,931,863 (GRCm39) missense probably benign 0.01
R0024:Krt34 UTSW 11 99,931,863 (GRCm39) missense probably benign 0.01
R0220:Krt34 UTSW 11 99,929,519 (GRCm39) splice site probably benign
R0242:Krt34 UTSW 11 99,932,157 (GRCm39) missense probably damaging 1.00
R1573:Krt34 UTSW 11 99,931,854 (GRCm39) missense probably benign 0.01
R1714:Krt34 UTSW 11 99,930,953 (GRCm39) missense possibly damaging 0.95
R1879:Krt34 UTSW 11 99,929,118 (GRCm39) missense possibly damaging 0.76
R3084:Krt34 UTSW 11 99,931,847 (GRCm39) missense probably damaging 1.00
R3692:Krt34 UTSW 11 99,929,857 (GRCm39) missense probably damaging 1.00
R3819:Krt34 UTSW 11 99,930,844 (GRCm39) missense probably damaging 1.00
R3872:Krt34 UTSW 11 99,932,243 (GRCm39) missense probably benign
R3876:Krt34 UTSW 11 99,931,791 (GRCm39) missense probably benign 0.02
R6164:Krt34 UTSW 11 99,929,272 (GRCm39) nonsense probably null
R6338:Krt34 UTSW 11 99,929,316 (GRCm39) missense probably benign 0.00
R6457:Krt34 UTSW 11 99,930,916 (GRCm39) missense probably damaging 1.00
R7728:Krt34 UTSW 11 99,930,811 (GRCm39) critical splice donor site probably null
R7748:Krt34 UTSW 11 99,929,764 (GRCm39) missense probably damaging 1.00
R7903:Krt34 UTSW 11 99,932,321 (GRCm39) start codon destroyed probably null 0.42
R8458:Krt34 UTSW 11 99,930,901 (GRCm39) missense probably damaging 1.00
R8480:Krt34 UTSW 11 99,930,971 (GRCm39) critical splice acceptor site probably null
R9262:Krt34 UTSW 11 99,930,851 (GRCm39) missense probably benign 0.15
R9514:Krt34 UTSW 11 99,929,226 (GRCm39) missense probably damaging 1.00
Z1176:Krt34 UTSW 11 99,932,260 (GRCm39) nonsense probably null
Posted On 2014-05-07