Incidental Mutation 'IGL02697:Krtap4-9'
ID303990
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krtap4-9
Ensembl Gene ENSMUSG00000078262
Gene Namekeratin associated protein 4-9
SynonymsOTTMUSG00000002198
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL02697
Quality Score
Status
Chromosome11
Chromosomal Location99785200-99786258 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99785748 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 165 (V165E)
Ref Sequence ENSEMBL: ENSMUSP00000100680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105059]
Predicted Effect unknown
Transcript: ENSMUST00000105059
AA Change: V165E
SMART Domains Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262
AA Change: V165E

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 1 47 1.2e-8 PFAM
Pfam:Keratin_B2_2 14 58 4.4e-13 PFAM
Pfam:Keratin_B2_2 54 102 3e-10 PFAM
Pfam:Keratin_B2_2 87 132 8.4e-12 PFAM
Pfam:Keratin_B2_2 98 147 3.4e-9 PFAM
Pfam:Keratin_B2_2 138 182 3.1e-12 PFAM
Pfam:Keratin_B2_2 178 222 4.8e-12 PFAM
Pfam:Keratin_B2_2 203 244 4.9e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg2 A T 4: 47,471,772 N345K probably damaging Het
Atp13a5 T A 16: 29,348,532 H151L probably benign Het
C2cd3 T C 7: 100,427,169 probably benign Het
Cep57l1 G T 10: 41,722,954 P212T possibly damaging Het
Coch G A 12: 51,597,038 A135T probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cul5 A G 9: 53,655,331 S134P probably benign Het
Cyp4f14 T C 17: 32,905,623 T485A probably damaging Het
Dennd3 T C 15: 73,524,236 F198S possibly damaging Het
Dennd5a C A 7: 109,894,781 A1239S probably damaging Het
Dhx8 T C 11: 101,754,781 I822T probably damaging Het
Dnah5 A T 15: 28,445,143 M4142L probably benign Het
Dyrk4 T A 6: 126,899,008 N88I possibly damaging Het
Emc1 T C 4: 139,352,644 F9L probably benign Het
Gga1 A G 15: 78,885,346 E173G probably damaging Het
H1fnt T C 15: 98,257,169 K33R probably benign Het
Hepacam2 A T 6: 3,476,036 H296Q possibly damaging Het
Ipo9 G T 1: 135,390,576 Q699K probably benign Het
Jmy A T 13: 93,459,701 Y473* probably null Het
Kdm5b A T 1: 134,588,773 probably benign Het
Kit A G 5: 75,607,259 S101G probably benign Het
Lnpep T A 17: 17,553,193 M639L probably benign Het
Lrp10 C T 14: 54,469,697 P664S probably damaging Het
Nrde2 A T 12: 100,131,207 L778H probably damaging Het
Oat A T 7: 132,569,955 probably null Het
Pfkl A T 10: 77,999,918 S219T probably benign Het
Phtf1 C T 3: 103,997,563 A509V probably benign Het
Pigz T A 16: 31,944,759 probably null Het
Pltp T A 2: 164,840,526 Y344F probably benign Het
Ppp6r2 A G 15: 89,256,755 Y107C probably benign Het
Ptprk A G 10: 28,575,618 D1034G possibly damaging Het
Rell1 C T 5: 63,927,011 V221I probably damaging Het
Skint5 A G 4: 113,479,713 F1429S probably benign Het
Slc22a28 T A 19: 8,117,127 T177S probably benign Het
Stxbp5 G T 10: 9,762,956 S1033* probably null Het
Tgs1 A G 4: 3,585,564 D147G probably benign Het
Thumpd3 T A 6: 113,067,295 N423K probably benign Het
Tns3 G T 11: 8,492,346 D672E probably benign Het
Vmn2r61 T A 7: 42,275,468 V482E possibly damaging Het
Vmn2r72 G T 7: 85,738,671 Q562K probably benign Het
Zan T C 5: 137,400,548 T4185A unknown Het
Other mutations in Krtap4-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01949:Krtap4-9 APN 11 99785565 unclassified probably benign
IGL03176:Krtap4-9 APN 11 99785280 unclassified probably benign
R0988:Krtap4-9 UTSW 11 99785536 nonsense probably null
R1773:Krtap4-9 UTSW 11 99785570 unclassified probably benign
R1838:Krtap4-9 UTSW 11 99785396 unclassified probably benign
R2566:Krtap4-9 UTSW 11 99785666 unclassified probably benign
R2888:Krtap4-9 UTSW 11 99785419 nonsense probably null
R3757:Krtap4-9 UTSW 11 99785618 unclassified probably benign
R4633:Krtap4-9 UTSW 11 99785554 unclassified probably benign
R5930:Krtap4-9 UTSW 11 99785636 unclassified probably benign
R6092:Krtap4-9 UTSW 11 99785655 unclassified probably benign
R6501:Krtap4-9 UTSW 11 99785429 unclassified probably benign
R6934:Krtap4-9 UTSW 11 99785882 nonsense probably null
R7131:Krtap4-9 UTSW 11 99785457 missense unknown
RF017:Krtap4-9 UTSW 11 99785399 unclassified probably benign
RF023:Krtap4-9 UTSW 11 99785391 unclassified probably benign
Posted On2015-04-16