Incidental Mutation 'IGL00593:Krt34'
ID 4500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt34
Ensembl Gene ENSMUSG00000043485
Gene Name keratin 34
Synonyms Krt1-4, 4733401E01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock # IGL00593
Quality Score
Status
Chromosome 11
Chromosomal Location 100037347-100041554 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 100038694 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056362]
AlphaFold Q9D646
Predicted Effect probably benign
Transcript: ENSMUST00000056362
SMART Domains Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485

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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr2 A T X: 21,486,480 K118* probably null Het
Akap14 A T X: 37,150,831 H525Q possibly damaging Het
Crb1 T C 1: 139,323,245 I323V probably benign Het
H60b T C 10: 22,287,063 I179T possibly damaging Het
Mroh9 T C 1: 163,045,781 N541D possibly damaging Het
Plxnb1 A T 9: 109,113,868 I1841F probably benign Het
Ppp4r3b A G 11: 29,197,205 D3G possibly damaging Het
Rp1 T C 1: 4,345,403 T1829A possibly damaging Het
Ssx2ip T C 3: 146,436,552 F468L probably damaging Het
Togaram1 A G 12: 65,006,399 E1301G probably damaging Het
Tpd52l2 A T 2: 181,499,896 D24V probably damaging Het
Trmo A G 4: 46,382,490 V209A probably benign Het
Zfp141 A T 7: 42,475,307 C580* probably null Het
Zfp422 C A 6: 116,626,958 A27S probably benign Het
Zfp786 A T 6: 47,819,671 *778R probably null Het
Other mutations in Krt34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01323:Krt34 APN 11 100038780 missense possibly damaging 0.95
IGL01403:Krt34 APN 11 100038290 missense possibly damaging 0.88
IGL01453:Krt34 APN 11 100040090 missense probably damaging 1.00
IGL02031:Krt34 APN 11 100039023 missense possibly damaging 0.95
IGL02831:Krt34 APN 11 100040147 splice site probably benign
R0024:Krt34 UTSW 11 100041037 missense probably benign 0.01
R0024:Krt34 UTSW 11 100041037 missense probably benign 0.01
R0220:Krt34 UTSW 11 100038693 splice site probably benign
R0242:Krt34 UTSW 11 100041331 missense probably damaging 1.00
R1573:Krt34 UTSW 11 100041028 missense probably benign 0.01
R1714:Krt34 UTSW 11 100040127 missense possibly damaging 0.95
R1879:Krt34 UTSW 11 100038292 missense possibly damaging 0.76
R3084:Krt34 UTSW 11 100041021 missense probably damaging 1.00
R3692:Krt34 UTSW 11 100039031 missense probably damaging 1.00
R3819:Krt34 UTSW 11 100040018 missense probably damaging 1.00
R3872:Krt34 UTSW 11 100041417 missense probably benign
R3876:Krt34 UTSW 11 100040965 missense probably benign 0.02
R6164:Krt34 UTSW 11 100038446 nonsense probably null
R6338:Krt34 UTSW 11 100038490 missense probably benign 0.00
R6457:Krt34 UTSW 11 100040090 missense probably damaging 1.00
R7728:Krt34 UTSW 11 100039985 critical splice donor site probably null
R7748:Krt34 UTSW 11 100038938 missense probably damaging 1.00
R7903:Krt34 UTSW 11 100041495 start codon destroyed probably null 0.42
R8458:Krt34 UTSW 11 100040075 missense probably damaging 1.00
R8480:Krt34 UTSW 11 100040145 critical splice acceptor site probably null
R9262:Krt34 UTSW 11 100040025 missense probably benign 0.15
Z1176:Krt34 UTSW 11 100041434 nonsense probably null
Posted On 2012-04-20