Incidental Mutation 'IGL03338:D630039A03Rik'
ID 417110
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol D630039A03Rik
Ensembl Gene ENSMUSG00000052117
Gene Name RIKEN cDNA D630039A03 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL03338
Quality Score
Status
Chromosome 4
Chromosomal Location 57908483-57916297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57910509 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 101 (E101G)
Ref Sequence ENSEMBL: ENSMUSP00000068932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063816]
AlphaFold Q8K0M7
Predicted Effect probably benign
Transcript: ENSMUST00000063816
AA Change: E101G

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,744,153 (GRCm39) V260M probably damaging Het
Accsl T A 2: 93,686,092 (GRCm39) H575L probably benign Het
Armc3 A T 2: 19,253,512 (GRCm39) I218F possibly damaging Het
Bora C A 14: 99,310,178 (GRCm39) N502K probably damaging Het
Brd4 T A 17: 32,432,046 (GRCm39) D606V probably damaging Het
Ccdc190 T A 1: 169,757,544 (GRCm39) M1K probably null Het
Ccl25 T C 8: 4,399,898 (GRCm39) probably benign Het
Cep78 G T 19: 15,936,987 (GRCm39) T573K probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Cntn4 C T 6: 106,632,550 (GRCm39) H525Y probably damaging Het
Dnah2 A G 11: 69,387,403 (GRCm39) V941A probably benign Het
Exoc6b A G 6: 84,821,112 (GRCm39) I559T probably damaging Het
Fmr1 T C X: 67,731,942 (GRCm39) probably null Het
Ghr A T 15: 3,377,024 (GRCm39) C66S probably damaging Het
Hook1 C A 4: 95,886,929 (GRCm39) probably benign Het
Igsf1 T C X: 48,876,376 (GRCm39) T73A probably benign Het
Ipo8 T C 6: 148,701,755 (GRCm39) K451R probably benign Het
Irs1 A G 1: 82,266,122 (GRCm39) V698A probably benign Het
Kat2a T C 11: 100,602,301 (GRCm39) D151G probably benign Het
Lyrm1 A T 7: 119,513,469 (GRCm39) Q78L probably benign Het
Madd C T 2: 90,992,507 (GRCm39) G1012E possibly damaging Het
Mboat1 T A 13: 30,320,742 (GRCm39) D31E probably benign Het
Myh8 C A 11: 67,189,172 (GRCm39) A1116D probably damaging Het
Nop2 G A 6: 125,116,695 (GRCm39) probably null Het
Notch1 A G 2: 26,349,971 (GRCm39) S2390P probably benign Het
Or10ag57 T G 2: 87,218,470 (GRCm39) N140K probably benign Het
Or52z14 T A 7: 103,253,615 (GRCm39) C251* probably null Het
Or6c66b A G 10: 129,376,925 (GRCm39) D173G probably damaging Het
Pigg T C 5: 108,467,816 (GRCm39) S272P probably damaging Het
Plg A G 17: 12,637,959 (GRCm39) Y795C probably damaging Het
Polr3e A G 7: 120,536,843 (GRCm39) K335R probably benign Het
Pramel13 T A 4: 144,121,397 (GRCm39) Y209F probably benign Het
Pramel24 T C 4: 143,453,312 (GRCm39) I140T probably benign Het
Pramel28 T C 4: 143,692,411 (GRCm39) I197V probably benign Het
Pramel28 T A 4: 143,692,608 (GRCm39) Q131L probably benign Het
Prdm4 A T 10: 85,743,685 (GRCm39) M190K possibly damaging Het
Prex2 T A 1: 11,210,489 (GRCm39) F597L probably benign Het
Ranbp3l A G 15: 9,060,940 (GRCm39) E403G probably damaging Het
Rgmb C T 17: 16,027,565 (GRCm39) A385T possibly damaging Het
Scn4a T A 11: 106,211,671 (GRCm39) I1449F probably damaging Het
Slc17a9 T C 2: 180,382,311 (GRCm39) probably benign Het
Slc26a2 T C 18: 61,331,974 (GRCm39) I486V probably damaging Het
Sntn A T 14: 13,678,991 (GRCm38) D55V probably damaging Het
Snx25 T A 8: 46,498,247 (GRCm39) R595S probably benign Het
Spag11b C T 8: 19,191,426 (GRCm39) T33I probably damaging Het
Sval2 A G 6: 41,841,181 (GRCm39) I81M probably damaging Het
Tab2 A G 10: 7,795,039 (GRCm39) V481A probably damaging Het
Zfp867 G A 11: 59,355,003 (GRCm39) Q109* probably null Het
Zfp935 T C 13: 62,602,247 (GRCm39) T318A probably benign Het
Other mutations in D630039A03Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01666:D630039A03Rik APN 4 57,910,570 (GRCm39) missense possibly damaging 0.86
IGL02071:D630039A03Rik APN 4 57,910,309 (GRCm39) missense possibly damaging 0.94
R1828:D630039A03Rik UTSW 4 57,910,240 (GRCm39) missense probably benign 0.02
R2883:D630039A03Rik UTSW 4 57,910,560 (GRCm39) missense probably damaging 1.00
R3874:D630039A03Rik UTSW 4 57,910,606 (GRCm39) missense probably benign 0.27
R3875:D630039A03Rik UTSW 4 57,910,606 (GRCm39) missense probably benign 0.27
R4776:D630039A03Rik UTSW 4 57,910,452 (GRCm39) missense possibly damaging 0.72
R5152:D630039A03Rik UTSW 4 57,910,434 (GRCm39) missense probably damaging 1.00
R7003:D630039A03Rik UTSW 4 57,910,521 (GRCm39) missense probably damaging 0.97
R8162:D630039A03Rik UTSW 4 57,910,525 (GRCm39) missense probably benign 0.02
R8875:D630039A03Rik UTSW 4 57,910,320 (GRCm39) missense probably benign 0.01
R9168:D630039A03Rik UTSW 4 57,910,113 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02