Incidental Mutation 'R7344:4930438A08Rik'
ID 570102
Institutional Source Beutler Lab
Gene Symbol 4930438A08Rik
Ensembl Gene ENSMUSG00000069873
Gene Name RIKEN cDNA 4930438A08 gene
Synonyms
MMRRC Submission 045434-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R7344 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 58165654-58185116 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 58182273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Serine at position 216 (Y216S)
Ref Sequence ENSEMBL: ENSMUSP00000104462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000108834] [ENSMUST00000208022]
AlphaFold Q5SPH3
Predicted Effect
SMART Domains Protein: ENSMUSP00000104462
Gene: ENSMUSG00000069873
AA Change: Y216S

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:Pyr_redox_2 29 166 2e-8 PFAM
Pfam:AlaDh_PNT_C 48 124 8.8e-8 PFAM
Pfam:FAD_binding_3 61 98 1.9e-7 PFAM
Pfam:HI0933_like 62 103 3.1e-8 PFAM
Pfam:Pyr_redox 63 105 1.8e-7 PFAM
Pfam:FAD_binding_2 63 119 8.7e-9 PFAM
Pfam:DAO 63 212 2.9e-8 PFAM
Pfam:NAD_binding_8 66 133 7.1e-15 PFAM
Pfam:Amino_oxidase 71 270 7e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000208022
AA Change: Y216S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep G T 7: 79,488,398 (GRCm39) S477R possibly damaging Het
Atp7b T C 8: 22,487,515 (GRCm39) D1293G probably damaging Het
Caprin2 A G 6: 148,774,565 (GRCm39) V249A probably benign Het
Cep41 C T 6: 30,693,655 (GRCm39) R5K probably benign Het
Cyp2c23 A T 19: 44,010,176 (GRCm39) probably null Het
Dazap2 T A 15: 100,514,824 (GRCm39) V15E possibly damaging Het
Ecpas A T 4: 58,824,770 (GRCm39) D1070E probably benign Het
Epha8 T A 4: 136,661,849 (GRCm39) H582L probably benign Het
Fam193a A G 5: 34,643,074 (GRCm39) T1513A possibly damaging Het
Fancd2 T C 6: 113,545,670 (GRCm39) V901A probably benign Het
Fbl T A 7: 27,878,360 (GRCm39) V284E probably damaging Het
Fbln2 A G 6: 91,246,955 (GRCm39) E1065G probably damaging Het
Fbxw16 A G 9: 109,278,103 (GRCm39) V25A probably benign Het
Fcgbpl1 C T 7: 27,852,185 (GRCm39) T1236I possibly damaging Het
Fcgbpl1 T C 7: 27,839,704 (GRCm39) S506P possibly damaging Het
Gm11562 T G 11: 99,511,195 (GRCm39) T2P unknown Het
Gm17728 G T 17: 9,640,955 (GRCm39) G22W probably damaging Het
Gm30083 A G 14: 33,721,537 (GRCm39) Y190H probably benign Het
Gm6793 T A 8: 112,741,561 (GRCm39) D27V probably damaging Het
Gm7324 A G 14: 43,952,134 (GRCm39) D259G probably benign Het
Gtf2a1l G A 17: 89,001,531 (GRCm39) G129D probably damaging Het
Ildr2 T A 1: 166,122,166 (GRCm39) V203E probably damaging Het
Ipo4 C T 14: 55,872,988 (GRCm39) R23Q probably benign Het
Irx5 A G 8: 93,086,183 (GRCm39) T89A probably benign Het
Itga7 A G 10: 128,776,798 (GRCm39) N221S possibly damaging Het
Lpcat2 T C 8: 93,602,195 (GRCm39) W259R probably damaging Het
Lrrc8e C T 8: 4,284,815 (GRCm39) R347C probably damaging Het
Lyst T A 13: 13,881,140 (GRCm39) D2790E probably benign Het
Magi2 G A 5: 20,755,238 (GRCm39) R604Q probably benign Het
Mertk C A 2: 128,613,417 (GRCm39) H478N probably benign Het
Mical3 T A 6: 121,013,505 (GRCm39) K293* probably null Het
Nod2 T C 8: 89,387,210 (GRCm39) L168P probably damaging Het
Npnt T C 3: 132,614,100 (GRCm39) probably null Het
Or1x6 T G 11: 50,939,122 (GRCm39) F63V probably damaging Het
Or5af1 A T 11: 58,722,308 (GRCm39) E109D probably damaging Het
Or8b37 T C 9: 37,959,253 (GRCm39) M245T probably benign Het
Or9g4 A T 2: 85,505,275 (GRCm39) Y73* probably null Het
Plcd4 A T 1: 74,593,811 (GRCm39) D312V probably damaging Het
Prss58 A G 6: 40,872,399 (GRCm39) I208T probably damaging Het
Pus7l A G 15: 94,438,498 (GRCm39) S116P probably benign Het
Rcc1l A T 5: 134,205,276 (GRCm39) I93N probably benign Het
Rftn2 A C 1: 55,265,311 (GRCm39) Y36* probably null Het
Rp1l1 G A 14: 64,267,069 (GRCm39) R885Q probably benign Het
Rpgrip1 A T 14: 52,378,116 (GRCm39) D488V probably damaging Het
Sacs A G 14: 61,444,893 (GRCm39) Y2313C possibly damaging Het
Scrib T C 15: 75,921,107 (GRCm39) Y1332C probably damaging Het
Serpinb10 T C 1: 107,468,672 (GRCm39) V105A probably damaging Het
Slc35d1 A T 4: 103,070,243 (GRCm39) probably null Het
Slfn3 T C 11: 83,103,648 (GRCm39) V173A probably benign Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Stard9 A T 2: 120,535,167 (GRCm39) D3808V possibly damaging Het
Supt16 A T 14: 52,411,028 (GRCm39) V692D probably damaging Het
Tapt1 A T 5: 44,345,999 (GRCm39) V317E probably damaging Het
Vmn2r101 T C 17: 19,832,059 (GRCm39) I685T probably benign Het
Vmn2r92 A G 17: 18,387,513 (GRCm39) I173V probably benign Het
Vps54 T C 11: 21,224,999 (GRCm39) I165T probably damaging Het
Zswim4 G A 8: 84,950,327 (GRCm39) R628* probably null Het
Zzz3 T C 3: 152,157,736 (GRCm39) S770P probably damaging Het
Other mutations in 4930438A08Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02884:4930438A08Rik APN 11 58,178,302 (GRCm39) missense probably benign 0.01
IGL03088:4930438A08Rik APN 11 58,184,210 (GRCm39) missense unknown
R0715:4930438A08Rik UTSW 11 58,179,176 (GRCm39) missense probably damaging 1.00
R1139:4930438A08Rik UTSW 11 58,179,112 (GRCm39) missense probably damaging 1.00
R1833:4930438A08Rik UTSW 11 58,179,214 (GRCm39) nonsense probably null
R5906:4930438A08Rik UTSW 11 58,182,260 (GRCm39) splice site probably null
R6056:4930438A08Rik UTSW 11 58,184,464 (GRCm39) missense probably damaging 0.96
R6288:4930438A08Rik UTSW 11 58,184,421 (GRCm39) missense probably damaging 1.00
R6981:4930438A08Rik UTSW 11 58,184,544 (GRCm39) unclassified probably benign
R6989:4930438A08Rik UTSW 11 58,178,228 (GRCm39) missense possibly damaging 0.88
R7195:4930438A08Rik UTSW 11 58,179,242 (GRCm39) critical splice donor site probably null
R7651:4930438A08Rik UTSW 11 58,184,188 (GRCm39) missense
R8141:4930438A08Rik UTSW 11 58,177,411 (GRCm39) missense
R8187:4930438A08Rik UTSW 11 58,180,548 (GRCm39) missense
R8214:4930438A08Rik UTSW 11 58,177,447 (GRCm39) missense
R8228:4930438A08Rik UTSW 11 58,182,381 (GRCm39) missense
R8744:4930438A08Rik UTSW 11 58,182,260 (GRCm39) splice site probably null
R8977:4930438A08Rik UTSW 11 58,184,710 (GRCm39) missense unknown
R9228:4930438A08Rik UTSW 11 58,178,296 (GRCm39) missense
R9346:4930438A08Rik UTSW 11 58,179,095 (GRCm39) missense
R9421:4930438A08Rik UTSW 11 58,177,451 (GRCm39) missense
R9524:4930438A08Rik UTSW 11 58,180,594 (GRCm39) critical splice donor site probably null
Z1186:4930438A08Rik UTSW 11 58,184,844 (GRCm39) missense unknown
Z1187:4930438A08Rik UTSW 11 58,184,844 (GRCm39) missense unknown
Z1188:4930438A08Rik UTSW 11 58,184,844 (GRCm39) missense unknown
Z1189:4930438A08Rik UTSW 11 58,184,844 (GRCm39) missense unknown
Z1190:4930438A08Rik UTSW 11 58,184,844 (GRCm39) missense unknown
Z1191:4930438A08Rik UTSW 11 58,184,844 (GRCm39) missense unknown
Z1192:4930438A08Rik UTSW 11 58,184,844 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ACCAAGGGGATCATCTCTGG -3'
(R):5'- AGGACTTCCTTCTGATGTCTTAG -3'

Sequencing Primer
(F):5'- GACACATATATAAGATAGCTTTGGGG -3'
(R):5'- GATGTCTTAGCTCCCCCTCG -3'
Posted On 2019-09-13