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
Is this an essential gene? Probably non essential (E-score: 0.070) 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 T260A probably damaging Het
Ahctf1 G A 1: 179,752,436 T2067M probably damaging Het
Akip1 T C 7: 109,704,138 S63P probably benign Het
Ankrd34c G A 9: 89,729,527 P254S possibly damaging Het
Aqp8 T C 7: 123,467,440 I256T probably benign Het
Arnt2 A G 7: 84,284,126 V308A probably benign Het
Astn1 G A 1: 158,684,215 S1209N probably damaging Het
Atf7ip T C 6: 136,599,820 probably benign Het
Bbx T A 16: 50,224,918 M427L probably benign Het
Cadm4 T C 7: 24,502,744 L336P probably benign Het
Camk2d A G 3: 126,797,723 M281V probably benign Het
Dll3 A G 7: 28,300,161 probably benign Het
Dscam G A 16: 96,593,385 R1906* probably null Het
Dst C T 1: 34,189,119 P1606L probably damaging Het
Eif2ak3 A G 6: 70,892,356 T676A probably benign Het
Entpd5 T C 12: 84,373,733 M428T probably benign Het
Fry T G 5: 150,380,803 S553A probably benign Het
Gls2 G A 10: 128,199,256 R86H probably damaging Het
Gm14340 T A 2: 180,824,250 noncoding transcript Het
Gm9457 A C 8: 4,813,131 noncoding transcript Het
Hfm1 T C 5: 106,856,924 K1179E probably benign Het
Iqgap1 T C 7: 80,751,939 T473A probably benign Het
Krt6a A G 15: 101,690,715 probably benign Het
Lysmd4 A G 7: 67,226,080 T164A probably benign Het
Mroh2b T A 15: 4,925,627 Y701N probably damaging Het
Pi4ka T C 16: 17,315,535 probably benign Het
Plcb1 A G 2: 135,362,425 S900G probably benign Het
Plxna2 T A 1: 194,643,995 I79N possibly damaging Het
Prpf31 C A 7: 3,636,659 probably null Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Rsc1a1 T C 4: 141,685,272 K110E probably benign Het
Sin3a T A 9: 57,118,253 probably benign Het
Slc24a2 T C 4: 87,028,240 probably benign Het
Slc6a3 A T 13: 73,540,837 probably benign Het
St5 T C 7: 109,524,659 H1131R probably damaging Het
Sugct G A 13: 16,857,869 H433Y probably benign Het
Sycp2l A G 13: 41,141,788 I310M probably damaging Het
Tpm3 C A 3: 90,087,449 probably null Het
Ttc27 T C 17: 74,770,264 F385L possibly damaging Het
Utrn A G 10: 12,406,011 V3301A probably benign Het
Other mutations in Krt34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Krt34 APN 11 100038694 splice site probably benign
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
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
R9514:Krt34 UTSW 11 100038400 missense probably damaging 1.00
Z1176:Krt34 UTSW 11 100041434 nonsense probably null
Posted On 2012-12-12