Incidental Mutation 'R8473:4930583I09Rik'
ID 657138
Institutional Source Beutler Lab
Gene Symbol 4930583I09Rik
Ensembl Gene ENSMUSG00000024088
Gene Name RIKEN cDNA 4930583I09 gene
Synonyms
MMRRC Submission 067917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R8473 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 65139519-65143066 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65141513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 30 (D30G)
Ref Sequence ENSEMBL: ENSMUSP00000024896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024896]
AlphaFold Q9D2E3
Predicted Effect unknown
Transcript: ENSMUST00000024896
AA Change: D30G
Meta Mutation Damage Score 0.0852 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (33/33)
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 T C 5: 121,745,538 (GRCm39) D251G probably damaging Het
Adamts15 T A 9: 30,816,085 (GRCm39) T625S probably damaging Het
Atg13 A T 2: 91,518,993 (GRCm39) L151M probably damaging Het
Atp5f1a T C 18: 77,867,625 (GRCm39) F250L probably damaging Het
Blnk T C 19: 40,940,854 (GRCm39) E183G possibly damaging Het
Csf3 T C 11: 98,592,928 (GRCm39) L97P probably damaging Het
Derl2 A G 11: 70,910,035 (GRCm39) Y10H probably damaging Het
Dgkb A G 12: 38,234,939 (GRCm39) N435D probably damaging Het
Dpy19l2 C A 9: 24,492,526 (GRCm39) V691L probably benign Het
Exoc5 T C 14: 49,256,860 (GRCm39) S509G probably null Het
Fancg A G 4: 43,004,963 (GRCm39) I410T probably damaging Het
Fsip2 G A 2: 82,777,336 (GRCm39) G121D probably damaging Het
Gfm1 T C 3: 67,361,051 (GRCm39) S458P possibly damaging Het
Gm6882 A T 7: 21,161,440 (GRCm39) Y143N probably damaging Het
Grm5 T A 7: 87,252,278 (GRCm39) M176K probably damaging Het
Herc6 T A 6: 57,624,099 (GRCm39) V623D probably damaging Het
Hmcn1 G T 1: 150,479,551 (GRCm39) P4638T possibly damaging Het
Il27ra A G 8: 84,768,735 (GRCm39) Y62H probably benign Het
Kcnh8 A T 17: 53,285,320 (GRCm39) S1097C probably benign Het
Kif19a T G 11: 114,678,377 (GRCm39) S677A probably damaging Het
Lrrc37 T C 11: 103,434,266 (GRCm39) T792A unknown Het
Or8d4 T C 9: 40,038,506 (GRCm39) I250M probably benign Het
Pcdhgb7 T A 18: 37,886,852 (GRCm39) V674D probably benign Het
Pik3r6 A G 11: 68,417,207 (GRCm39) S50G probably benign Het
Ptpn12 T C 5: 21,203,357 (GRCm39) T474A probably benign Het
Rbbp6 T C 7: 122,600,421 (GRCm39) probably benign Het
Scaper T C 9: 55,458,131 (GRCm39) Y880C probably damaging Het
Smc5 A T 19: 23,221,446 (GRCm39) V361D probably benign Het
Stag1 T A 9: 100,762,840 (GRCm39) H480Q probably damaging Het
Tdpoz2 T C 3: 93,559,153 (GRCm39) E273G probably damaging Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Tmx4 T C 2: 134,451,444 (GRCm39) T170A probably benign Het
Vmn1r59 A T 7: 5,457,064 (GRCm39) M232K possibly damaging Het
Wdr20rt A G 12: 65,273,380 (GRCm39) D180G probably damaging Het
Other mutations in 4930583I09Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1717:4930583I09Rik UTSW 17 65,141,444 (GRCm39) missense unknown
R2303:4930583I09Rik UTSW 17 65,141,561 (GRCm39) missense unknown
R4726:4930583I09Rik UTSW 17 65,141,448 (GRCm39) missense probably null
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'- TGGGAGAGAGCAGAGTATTTCC -3'
(R):5'- TGTAAGCACCAGGTGTTGC -3'

Sequencing Primer
(F):5'- TTCCTATTTAGATTTTGTGAGGAGC -3'
(R):5'- TCCCAGTTGTGTCACAGAAG -3'
Posted On 2021-01-18