Incidental Mutation 'IGL03176:Krtap4-9'
ID411986
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: 0.067) question?
Stock #IGL03176
Quality Score
Status
Chromosome11
Chromosomal Location99785200-99786258 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 99785280 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105059] [ENSMUST00000107439]
Predicted Effect unknown
Transcript: ENSMUST00000105059
AA Change: V9A
SMART Domains Protein: ENSMUSP00000100680
Gene: ENSMUSG00000078262
AA Change: V9A

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
Predicted Effect probably benign
Transcript: ENSMUST00000107439
SMART Domains Protein: ENSMUSP00000103063
Gene: ENSMUSG00000089724

DomainStartEndE-ValueType
Pfam:Keratin_B2_2 14 58 1.8e-13 PFAM
Pfam:Keratin_B2_2 54 98 6.7e-15 PFAM
Pfam:Keratin_B2_2 94 138 9.5e-15 PFAM
Pfam:Keratin_B2_2 138 182 1.5e-12 PFAM
Pfam:Keratin_B2_2 168 209 8.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam23 C A 1: 63,563,416 P579Q probably damaging Het
Adam6a A G 12: 113,546,202 T732A probably benign Het
Ahnak T A 19: 9,008,166 N2271K possibly damaging Het
Ahnak T C 19: 9,002,449 S366P probably damaging Het
Akr1a1 A G 4: 116,639,075 L213S probably damaging Het
Ammecr1l T A 18: 31,772,049 D114E possibly damaging Het
Casq2 G T 3: 102,126,654 V167L possibly damaging Het
Cd164l2 T C 4: 133,224,254 I172T possibly damaging Het
Clec4g C T 8: 3,718,441 V97M possibly damaging Het
Dnah8 T A 17: 30,694,037 N1068K probably benign Het
Epyc A G 10: 97,649,700 M1V probably null Het
Eya3 A G 4: 132,711,922 E437G possibly damaging Het
Fbln1 C T 15: 85,244,306 T568I possibly damaging Het
Fcrl1 A T 3: 87,391,257 N353I probably damaging Het
Gm10272 A T 10: 77,706,633 H3L probably null Het
Gm15130 A G 2: 111,148,501 S32P unknown Het
Gm20379 C A 13: 92,306,021 probably benign Het
Igf2r A T 17: 12,716,672 Y644N probably damaging Het
Man2c1 A G 9: 57,140,746 N739D probably benign Het
Mcm5 C T 8: 75,109,853 T49M possibly damaging Het
Otof C T 5: 30,405,176 probably null Het
Ptgr2 C T 12: 84,307,894 T283I probably damaging Het
Rhox4c G T X: 37,480,528 G15V probably benign Het
Rnd1 A T 15: 98,670,688 L203H probably damaging Het
Rnf186 A G 4: 138,967,920 N257S probably benign Het
Rsf1 T C 7: 97,679,150 probably benign Het
Ryr2 G A 13: 11,742,023 Q1582* probably null Het
Sntg2 G A 12: 30,267,023 probably benign Het
Spata31d1c A G 13: 65,037,011 D789G probably benign Het
Strc A C 2: 121,372,180 L1168R probably damaging Het
Tmtc3 A T 10: 100,466,131 S319T possibly damaging Het
Vmn1r88 A T 7: 13,177,852 D45V probably damaging Het
Vps13d A T 4: 145,074,963 F3531I probably benign Het
Other mutations in Krtap4-9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01949:Krtap4-9 APN 11 99785565 unclassified probably benign
IGL02697:Krtap4-9 APN 11 99785748 missense unknown
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
Posted On2016-08-02