Incidental Mutation 'IGL02741:A930004D18Rik'
ID305910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol A930004D18Rik
Ensembl Gene ENSMUSG00000054057
Gene NameRIKEN cDNA A930004D18 gene
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.315) question?
Stock #IGL02741
Quality Score
Status
Chromosome2
Chromosomal Location18025193-18037737 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18027196 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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