Incidental Mutation 'IGL02983:Gm17078'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gm17078
Ensembl Gene ENSMUSG00000094715
Gene Namepredicted gene 17078
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.098) question?
Stock #IGL02983
Quality Score
Chromosomal Location51606807-51611310 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 51611190 bp
Amino Acid Change Lysine to Arginine at position 30 (K30R)
Ref Sequence ENSEMBL: ENSMUSP00000137655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096170] [ENSMUST00000167617]
Predicted Effect probably benign
Transcript: ENSMUST00000096170
SMART Domains Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244

Pfam:Takusan 56 144 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167617
AA Change: K30R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000137655
Gene: ENSMUSG00000094715
AA Change: K30R

Pfam:Takusan 53 136 4.5e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Gm17078
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02525:Gm17078 APN 14 51611223 missense possibly damaging 0.94
R5028:Gm17078 UTSW 14 51611242 missense probably null 0.99
R6438:Gm17078 UTSW 14 51611238 missense probably benign 0.41
Posted On2016-08-02