Incidental Mutation 'R2303:4930583I09Rik'
ID 244510
Institutional Source Beutler Lab
Gene Symbol 4930583I09Rik
Ensembl Gene ENSMUSG00000024088
Gene Name RIKEN cDNA 4930583I09 gene
Synonyms
MMRRC Submission 040302-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R2303 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 65139519-65143066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 65141561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 14 (D14A)
Ref Sequence ENSEMBL: ENSMUSP00000024896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024896]
AlphaFold Q9D2E3
Predicted Effect unknown
Transcript: ENSMUST00000024896
AA Change: D14A
Meta Mutation Damage Score 0.0869 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C A 8: 111,779,134 (GRCm39) T756K possibly damaging Het
Abca9 A T 11: 110,049,052 (GRCm39) M252K probably benign Het
Acan A G 7: 78,749,705 (GRCm39) E1492G probably benign Het
Arid1a C A 4: 133,414,562 (GRCm39) R1223L unknown Het
Ash1l T C 3: 88,933,733 (GRCm39) L2003S probably damaging Het
Cct8 A T 16: 87,287,220 (GRCm39) probably null Het
Dagla T C 19: 10,229,467 (GRCm39) T598A probably damaging Het
Ercc3 A G 18: 32,378,600 (GRCm39) I194V probably benign Het
Fbxo46 A G 7: 18,870,541 (GRCm39) N387D possibly damaging Het
Fn1 C T 1: 71,653,195 (GRCm39) probably null Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gnrhr C T 5: 86,345,608 (GRCm39) G26D probably benign Het
Hmcn1 A T 1: 150,579,977 (GRCm39) L1920Q probably damaging Het
Kank2 T A 9: 21,681,061 (GRCm39) I823F probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kdm1b TCATTGTCC TCATTGTCCATTGTCC 13: 47,217,564 (GRCm39) probably null Het
Mfsd6 T A 1: 52,715,672 (GRCm39) N535I probably damaging Het
Mgat5 T C 1: 127,374,036 (GRCm39) Y479H probably benign Het
Ncoa7 G A 10: 30,530,431 (GRCm39) T701I probably damaging Het
Or6c2 T C 10: 129,362,918 (GRCm39) V274A probably benign Het
Pcdh18 T C 3: 49,709,723 (GRCm39) R531G probably damaging Het
Pcdhb6 A G 18: 37,469,284 (GRCm39) H51R probably damaging Het
Pdik1l G A 4: 134,011,559 (GRCm39) Q95* probably null Het
Ppp4r3b A T 11: 29,150,741 (GRCm39) H469L possibly damaging Het
Prnp A G 2: 131,779,046 (GRCm39) T233A probably benign Het
Rcan1 T C 16: 92,190,484 (GRCm39) T152A possibly damaging Het
Sema3g T C 14: 30,944,572 (GRCm39) F329L probably damaging Het
Setd1a G A 7: 127,398,327 (GRCm39) probably benign Het
Slc40a1 G A 1: 45,950,044 (GRCm39) probably benign Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Spg11 C T 2: 121,899,318 (GRCm39) C1589Y probably damaging Het
Stab1 T C 14: 30,868,027 (GRCm39) T1616A probably damaging Het
Trappc11 A G 8: 47,956,451 (GRCm39) Y842H probably damaging Het
Vwde T A 6: 13,215,806 (GRCm39) probably benign Het
Zcchc8 A G 5: 123,838,660 (GRCm39) L626P probably benign Het
Zfhx4 A G 3: 5,462,120 (GRCm39) H1240R probably damaging Het
Other mutations in 4930583I09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1717:4930583I09Rik UTSW 17 65,141,444 (GRCm39) missense unknown
R4726:4930583I09Rik UTSW 17 65,141,448 (GRCm39) missense probably null
R8473:4930583I09Rik UTSW 17 65,141,513 (GRCm39) missense unknown
R9535:4930583I09Rik UTSW 17 65,141,326 (GRCm39) missense unknown
R9665:4930583I09Rik UTSW 17 65,141,288 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATTTTGTGAGGAGCTGATTCCCAG -3'
(R):5'- TGTAAGCACCAGGTGTTGCC -3'

Sequencing Primer
(F):5'- GCACCCCAAATGATGCTCTAG -3'
(R):5'- TCCCAGTTGTGTCACAGAAG -3'
Posted On 2014-10-30