Incidental Mutation 'R0024:Krt34'
ID 15154
Institutional Source Beutler Lab
Gene Symbol Krt34
Ensembl Gene ENSMUSG00000043485
Gene Name keratin 34
Synonyms Krt1-4, 4733401E01Rik
MMRRC Submission 038319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.068) question?
Stock # R0024 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 100037347-100041554 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100041037 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 119 (C119S)
Ref Sequence ENSEMBL: ENSMUSP00000056622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056362]
AlphaFold Q9D646
Predicted Effect probably benign
Transcript: ENSMUST00000056362
AA Change: C119S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: C119S

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
Meta Mutation Damage Score 0.1010 question?
Coding Region Coverage
  • 1x: 79.2%
  • 3x: 69.7%
  • 10x: 44.0%
  • 20x: 23.5%
Validation Efficiency 95% (75/79)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre5 T C 8: 83,728,284 (GRCm38) T260A probably damaging Het
Ahctf1 G A 1: 179,752,436 (GRCm38) T2067M probably damaging Het
Akip1 T C 7: 109,704,138 (GRCm38) S63P probably benign Het
Ankrd34c G A 9: 89,729,527 (GRCm38) P254S possibly damaging Het
Aqp8 T C 7: 123,467,440 (GRCm38) I256T probably benign Het
Arnt2 A G 7: 84,284,126 (GRCm38) V308A probably benign Het
Astn1 G A 1: 158,684,215 (GRCm38) S1209N probably damaging Het
Atf7ip T C 6: 136,599,820 (GRCm38) probably benign Het
Bbx T A 16: 50,224,918 (GRCm38) M427L probably benign Het
Cadm4 T C 7: 24,502,744 (GRCm38) L336P probably benign Het
Camk2d A G 3: 126,797,723 (GRCm38) M281V probably benign Het
Dll3 A G 7: 28,300,161 (GRCm38) probably benign Het
Dscam G A 16: 96,593,385 (GRCm38) R1906* probably null Het
Dst C T 1: 34,189,119 (GRCm38) P1606L probably damaging Het
Eif2ak3 A G 6: 70,892,356 (GRCm38) T676A probably benign Het
Entpd5 T C 12: 84,373,733 (GRCm38) M428T probably benign Het
Fry T G 5: 150,380,803 (GRCm38) S553A probably benign Het
Gls2 G A 10: 128,199,256 (GRCm38) R86H probably damaging Het
Gm14340 T A 2: 180,824,250 (GRCm38) noncoding transcript Het
Gm9457 A C 8: 4,813,131 (GRCm38) noncoding transcript Het
Hfm1 T C 5: 106,856,924 (GRCm38) K1179E probably benign Het
Iqgap1 T C 7: 80,751,939 (GRCm38) T473A probably benign Het
Krt6a A G 15: 101,690,715 (GRCm38) probably benign Het
Lysmd4 A G 7: 67,226,080 (GRCm38) T164A probably benign Het
Mroh2b T A 15: 4,925,627 (GRCm38) Y701N probably damaging Het
Pi4ka T C 16: 17,315,535 (GRCm38) probably benign Het
Plcb1 A G 2: 135,362,425 (GRCm38) S900G probably benign Het
Plxna2 T A 1: 194,643,995 (GRCm38) I79N possibly damaging Het
Prpf31 C A 7: 3,636,659 (GRCm38) probably null Het
Ptpro T A 6: 137,443,594 (GRCm38) V1007D probably damaging Het
Rsc1a1 T C 4: 141,685,272 (GRCm38) K110E probably benign Het
Sin3a T A 9: 57,118,253 (GRCm38) probably benign Het
Slc24a2 T C 4: 87,028,240 (GRCm38) probably benign Het
Slc6a3 A T 13: 73,540,837 (GRCm38) probably benign Het
St5 T C 7: 109,524,659 (GRCm38) H1131R probably damaging Het
Sugct G A 13: 16,857,869 (GRCm38) H433Y probably benign Het
Sycp2l A G 13: 41,141,788 (GRCm38) I310M probably damaging Het
Tpm3 C A 3: 90,087,449 (GRCm38) probably null Het
Ttc27 T C 17: 74,770,264 (GRCm38) F385L possibly damaging Het
Utrn A G 10: 12,406,011 (GRCm38) V3301A probably benign Het
Other mutations in Krt34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Krt34 APN 11 100,038,694 (GRCm38) splice site probably benign
IGL01323:Krt34 APN 11 100,038,780 (GRCm38) missense possibly damaging 0.95
IGL01403:Krt34 APN 11 100,038,290 (GRCm38) missense possibly damaging 0.88
IGL01453:Krt34 APN 11 100,040,090 (GRCm38) missense probably damaging 1.00
IGL02031:Krt34 APN 11 100,039,023 (GRCm38) missense possibly damaging 0.95
IGL02831:Krt34 APN 11 100,040,147 (GRCm38) splice site probably benign
R0024:Krt34 UTSW 11 100,041,037 (GRCm38) missense probably benign 0.01
R0220:Krt34 UTSW 11 100,038,693 (GRCm38) splice site probably benign
R0242:Krt34 UTSW 11 100,041,331 (GRCm38) missense probably damaging 1.00
R1573:Krt34 UTSW 11 100,041,028 (GRCm38) missense probably benign 0.01
R1714:Krt34 UTSW 11 100,040,127 (GRCm38) missense possibly damaging 0.95
R1879:Krt34 UTSW 11 100,038,292 (GRCm38) missense possibly damaging 0.76
R3084:Krt34 UTSW 11 100,041,021 (GRCm38) missense probably damaging 1.00
R3692:Krt34 UTSW 11 100,039,031 (GRCm38) missense probably damaging 1.00
R3819:Krt34 UTSW 11 100,040,018 (GRCm38) missense probably damaging 1.00
R3872:Krt34 UTSW 11 100,041,417 (GRCm38) missense probably benign
R3876:Krt34 UTSW 11 100,040,965 (GRCm38) missense probably benign 0.02
R6164:Krt34 UTSW 11 100,038,446 (GRCm38) nonsense probably null
R6338:Krt34 UTSW 11 100,038,490 (GRCm38) missense probably benign 0.00
R6457:Krt34 UTSW 11 100,040,090 (GRCm38) missense probably damaging 1.00
R7728:Krt34 UTSW 11 100,039,985 (GRCm38) critical splice donor site probably null
R7748:Krt34 UTSW 11 100,038,938 (GRCm38) missense probably damaging 1.00
R7903:Krt34 UTSW 11 100,041,495 (GRCm38) start codon destroyed probably null 0.42
R8458:Krt34 UTSW 11 100,040,075 (GRCm38) missense probably damaging 1.00
R8480:Krt34 UTSW 11 100,040,145 (GRCm38) critical splice acceptor site probably null
R9262:Krt34 UTSW 11 100,040,025 (GRCm38) missense probably benign 0.15
R9514:Krt34 UTSW 11 100,038,400 (GRCm38) missense probably damaging 1.00
Z1176:Krt34 UTSW 11 100,041,434 (GRCm38) nonsense probably null
Posted On 2012-12-12