Incidental Mutation 'IGL02741:A930004D18Rik'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A930004D18Rik
Ensembl Gene ENSMUSG00000054057
Gene NameRIKEN cDNA A930004D18 gene
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.315) question?
Stock #IGL02741
Quality Score
Chromosomal Location18025193-18037737 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18027196 bp
Amino Acid Change Tyrosine to Cysteine at position 37 (Y37C)
Ref Sequence ENSEMBL: ENSMUSP00000066378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066163]
Predicted Effect unknown
Transcript: ENSMUST00000066163
AA Change: Y37C
SMART Domains Protein: ENSMUSP00000066378
Gene: ENSMUSG00000054057
AA Change: Y37C

transmembrane domain 85 104 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151857
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap20 T A 9: 51,848,645 C599S probably benign Het
Bcl6b C A 11: 70,229,116 R15L probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dchs1 C T 7: 105,757,323 D2262N probably damaging Het
Dsg4 A G 18: 20,471,496 M1007V probably benign Het
Fgd6 A G 10: 94,123,290 K1032R possibly damaging Het
Fras1 T A 5: 96,691,371 M1583K probably benign Het
Gjc3 A T 5: 137,957,464 C186* probably null Het
Gm14496 A G 2: 181,991,343 R40G probably benign Het
Ibtk T C 9: 85,726,612 R416G probably damaging Het
Kcnc4 A G 3: 107,447,978 F385L probably damaging Het
Mapk8ip2 T C 15: 89,457,497 S304P probably damaging Het
Mbd6 A G 10: 127,287,394 probably null Het
Mroh2b T C 15: 4,905,632 F183S probably benign Het
Nrg1 T A 8: 31,822,288 T334S probably damaging Het
Pigw C T 11: 84,878,366 V46I probably benign Het
Pkdrej T C 15: 85,817,430 E1435G probably benign Het
Pkhd1 T C 1: 20,220,029 probably benign Het
Prkdc A T 16: 15,752,726 probably benign Het
Ptprd A T 4: 76,133,284 I247N probably damaging Het
Rfx1 A G 8: 84,095,842 Q923R possibly damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rps6ka2 T A 17: 7,296,016 F608I probably benign Het
Slc13a1 A T 6: 24,150,708 probably null Het
Slc6a20b C T 9: 123,607,602 V249M probably damaging Het
Slc9c1 A G 16: 45,581,598 I783V possibly damaging Het
Swap70 G T 7: 110,274,649 M401I probably benign Het
Tmco4 A T 4: 139,029,877 I407F probably damaging Het
Trpm4 T A 7: 45,318,488 S340C possibly damaging Het
Tsc2 T C 17: 24,629,969 E79G probably damaging Het
Ubr1 A C 2: 120,941,091 S439A probably benign Het
Vmn1r73 T C 7: 11,756,783 V176A probably benign Het
Vmn2r17 G A 5: 109,420,211 D67N probably benign Het
Wasf1 C T 10: 40,930,709 T116M probably damaging Het
Zkscan3 A T 13: 21,393,994 M241K probably benign Het
Other mutations in A930004D18Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02214:A930004D18Rik APN 2 18027256 missense unknown
IGL02624:A930004D18Rik APN 2 18027193 missense unknown
R4579:A930004D18Rik UTSW 2 18027037 missense probably damaging 0.99
X0017:A930004D18Rik UTSW 2 18027100 missense unknown
Posted On2015-04-16