Incidental Mutation 'IGL01323:Krt34'
ID74109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt34
Ensembl Gene ENSMUSG00000043485
Gene Namekeratin 34
SynonymsKrt1-4, 4733401E01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL01323
Quality Score
Status
Chromosome11
Chromosomal Location100037347-100041554 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100038780 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 267 (S267P)
Ref Sequence ENSEMBL: ENSMUSP00000056622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056362]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056362
AA Change: S267P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000056622
Gene: ENSMUSG00000043485
AA Change: S267P

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,871,495 D1272G probably damaging Het
Ascl2 A G 7: 142,968,388 S108P probably benign Het
B3gat1 T C 9: 26,755,910 V146A possibly damaging Het
Barhl1 C T 2: 28,915,546 S45N probably benign Het
Birc6 C T 17: 74,622,925 A2370V probably damaging Het
C1qtnf7 A G 5: 43,609,260 D67G possibly damaging Het
Cand2 A G 6: 115,785,125 T171A probably benign Het
Ccdc77 T C 6: 120,334,796 Q247R probably benign Het
Cenpp A T 13: 49,647,642 V100D probably damaging Het
Cep135 A G 5: 76,591,765 T3A probably benign Het
Eef2k T C 7: 120,884,815 probably benign Het
Fga T C 3: 83,030,211 S132P probably damaging Het
Gm4070 A G 7: 105,896,802 S2348P possibly damaging Het
Gpr6 T A 10: 41,071,559 N9I possibly damaging Het
Hacd3 A G 9: 64,998,305 F184L probably damaging Het
Heatr1 T C 13: 12,398,938 I132T possibly damaging Het
Igfbp7 A G 5: 77,352,037 probably benign Het
Ighv8-6 T C 12: 115,165,857 D93G possibly damaging Het
Izumo3 A G 4: 92,146,390 probably benign Het
Jade2 T C 11: 51,825,338 T347A possibly damaging Het
Kif18a A G 2: 109,298,442 T419A probably benign Het
Krt4 T G 15: 101,920,281 K383Q probably damaging Het
Lgals7 G T 7: 28,865,564 E42D probably benign Het
Morc2b A G 17: 33,137,319 V493A possibly damaging Het
Mtif2 T A 11: 29,541,447 S557R probably damaging Het
Nup43 T A 10: 7,669,556 F83I probably benign Het
Olfr107 G T 17: 37,406,140 M197I probably benign Het
Oosp2 A G 19: 11,647,461 L155S probably damaging Het
Plxnd1 T A 6: 115,966,799 T1180S possibly damaging Het
Prpf39 T A 12: 65,042,724 F79I possibly damaging Het
Prph G A 15: 99,058,636 S465N possibly damaging Het
Purg A T 8: 33,386,603 I90L probably damaging Het
Pxdn C A 12: 29,987,137 Q305K probably benign Het
R3hdm1 G A 1: 128,216,543 S816N probably benign Het
Src G A 2: 157,469,503 G461R probably damaging Het
Tmem201 G A 4: 149,719,588 probably benign Het
Tnfrsf22 G A 7: 143,643,374 P76L probably damaging Het
Triml1 T C 8: 43,138,563 probably null Het
Upp1 A G 11: 9,136,100 *312W probably null Het
Wdfy3 G T 5: 101,895,064 S1940R probably damaging Het
Xpc T C 6: 91,492,353 Y804C probably damaging Het
Xrn2 C T 2: 147,034,847 probably benign Het
Zfp106 A T 2: 120,524,464 D1275E possibly damaging Het
Other mutations in Krt34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00593:Krt34 APN 11 100038694 splice site probably benign
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
R7986:Krt34 UTSW 11 100041495 start codon destroyed probably null 0.42
Z1176:Krt34 UTSW 11 100041434 nonsense probably null
Posted On2013-10-07