Incidental Mutation 'IGL02831:Krt34'
ID361458
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: 0.084) question?
Stock #IGL02831
Quality Score
Status
Chromosome11
Chromosomal Location100037347-100041554 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 100040147 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000056622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056362]
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a C T 11: 110,053,081 V1121M probably damaging Het
Acrbp C A 6: 125,061,249 T471N possibly damaging Het
Blnk C T 19: 40,962,429 D93N probably damaging Het
Casp7 A G 19: 56,404,423 D3G probably benign Het
Cd163l1 G T 7: 140,228,521 V782L probably benign Het
Coro1c A T 5: 113,844,408 C456S probably benign Het
Dlec1 T G 9: 119,143,915 L1499R probably damaging Het
Dnah8 T C 17: 30,712,276 S1422P probably benign Het
Exd1 T C 2: 119,528,754 D216G probably damaging Het
Fhit T C 14: 9,870,080 T130A probably benign Het
Frem1 A T 4: 82,956,158 M1409K probably benign Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Glb1l2 A G 9: 26,767,450 V465A probably benign Het
Ints8 T C 4: 11,245,896 Q194R possibly damaging Het
Ip6k2 C T 9: 108,804,534 probably benign Het
Kctd2 T A 11: 115,430,340 *264K probably null Het
Lamc1 A G 1: 153,247,055 S760P probably benign Het
Lrp1b T C 2: 41,193,591 N1702S probably damaging Het
Lrrc8e T A 8: 4,235,429 S551R probably damaging Het
Map3k20 T C 2: 72,371,727 V139A probably damaging Het
Mkl1 A G 15: 81,104,793 L9P probably benign Het
Napsa A G 7: 44,586,760 T408A probably benign Het
Olfr1156 T C 2: 87,949,676 probably null Het
Olfr132 T C 17: 38,130,512 K227E probably benign Het
Olfr1361 T C 13: 21,658,904 I140V probably benign Het
Panx1 A G 9: 15,007,648 L305P probably damaging Het
Pkhd1l1 A G 15: 44,501,493 H676R probably benign Het
Pld1 T A 3: 28,076,425 V458E probably damaging Het
Ppp5c A G 7: 17,008,645 L256P probably damaging Het
Pyroxd2 G T 19: 42,735,903 T307K probably damaging Het
Sin3b A G 8: 72,744,562 E379G probably damaging Het
Slc22a23 T C 13: 34,299,069 T276A possibly damaging Het
Slc26a3 T C 12: 31,452,629 I283T probably damaging Het
Sltm A G 9: 70,584,865 D712G probably damaging Het
Slu7 C T 11: 43,442,653 Q367* probably null Het
Srbd1 T C 17: 86,003,871 N706S probably damaging Het
Supt16 A T 14: 52,170,878 M870K possibly damaging Het
Tnxb T C 17: 34,703,571 Y2453H possibly damaging Het
Tomm40 A G 7: 19,703,089 Y274H probably damaging Het
Utp20 A T 10: 88,815,908 D404E probably benign Het
Vmn2r23 T A 6: 123,704,385 M84K probably benign Het
Wdr70 A G 15: 7,884,306 Y621H possibly damaging Het
Wfdc8 C T 2: 164,605,765 probably null 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
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
Z1176:Krt34 UTSW 11 100041434 nonsense probably null
Posted On2015-12-18