Incidental Mutation 'R4300:4930503B20Rik'
ID 322366
Institutional Source Beutler Lab
Gene Symbol 4930503B20Rik
Ensembl Gene ENSMUSG00000090202
Gene Name RIKEN cDNA 4930503B20 gene
Synonyms
MMRRC Submission 041657-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R4300 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 146350948-146357072 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 146356675 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 78 (R78*)
Ref Sequence ENSEMBL: ENSMUSP00000114745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049703] [ENSMUST00000124931] [ENSMUST00000125965] [ENSMUST00000147113] [ENSMUST00000149825] [ENSMUST00000197989]
AlphaFold Q80ZP0
Predicted Effect probably null
Transcript: ENSMUST00000049703
AA Change: R78*
SMART Domains Protein: ENSMUSP00000051453
Gene: ENSMUSG00000090202
AA Change: R78*

DomainStartEndE-ValueType
DnaJ 2 61 1.21e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124931
SMART Domains Protein: ENSMUSP00000118464
Gene: ENSMUSG00000048652

DomainStartEndE-ValueType
SAM 28 94 3.66e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125965
SMART Domains Protein: ENSMUSP00000119608
Gene: ENSMUSG00000048652

DomainStartEndE-ValueType
SAM 28 94 3.66e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141199
Predicted Effect probably benign
Transcript: ENSMUST00000147113
SMART Domains Protein: ENSMUSP00000118934
Gene: ENSMUSG00000048652

DomainStartEndE-ValueType
SAM 28 94 3.66e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000149825
AA Change: R78*
SMART Domains Protein: ENSMUSP00000114745
Gene: ENSMUSG00000090202
AA Change: R78*

DomainStartEndE-ValueType
DnaJ 2 61 1.21e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154128
Predicted Effect probably benign
Transcript: ENSMUST00000197989
SMART Domains Protein: ENSMUSP00000143496
Gene: ENSMUSG00000048652

DomainStartEndE-ValueType
SAM 9 75 2.2e-4 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m G A 6: 121,650,434 (GRCm39) V1181I probably benign Het
Cacna1b T C 2: 24,525,251 (GRCm39) S1639G probably damaging Het
Ccs T C 19: 4,884,285 (GRCm39) T56A probably benign Het
Cd177 T C 7: 24,449,845 (GRCm39) I547V possibly damaging Het
Ckmt2 C A 13: 92,011,457 (GRCm39) probably null Het
Cyth1 A G 11: 118,074,720 (GRCm39) F180L probably damaging Het
Dip2c A G 13: 9,660,747 (GRCm39) I840M probably damaging Het
Gm37150 G A 9: 72,292,758 (GRCm39) noncoding transcript Het
Herc1 A G 9: 66,396,688 (GRCm39) D4255G probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Kcnn4 G T 7: 24,077,029 (GRCm39) V193L probably benign Het
Lrrc8d G A 5: 105,961,606 (GRCm39) R672Q probably damaging Het
Mboat2 A G 12: 25,009,082 (GRCm39) N463D probably benign Het
Mtfr1 T A 3: 19,269,621 (GRCm39) probably null Het
Or10g6 A C 9: 39,934,435 (GRCm39) I249L probably benign Het
Or5h24 T C 16: 58,918,641 (GRCm39) Y238C unknown Het
Pcnt G C 10: 76,203,225 (GRCm39) R2626G probably benign Het
Pik3cg A G 12: 32,226,671 (GRCm39) I1072T probably damaging Het
Prc1 G A 7: 79,960,964 (GRCm39) probably benign Het
Psph G T 5: 129,864,529 (GRCm39) probably null Het
Rfx4 T C 10: 84,740,966 (GRCm39) Y601H probably damaging Het
Rmc1 A G 18: 12,321,919 (GRCm39) N513D probably benign Het
Setd5 T G 6: 113,127,123 (GRCm39) V1249G probably damaging Het
Sirpb1b A T 3: 15,613,821 (GRCm39) I87K probably damaging Het
Slc14a2 G A 18: 78,250,283 (GRCm39) R62C probably damaging Het
Spata31 A T 13: 65,067,575 (GRCm39) H79L probably benign Het
Srbd1 C A 17: 86,292,632 (GRCm39) R979L probably damaging Het
Stox2 A T 8: 47,647,027 (GRCm39) Y208* probably null Het
Sun1 A T 5: 139,213,349 (GRCm39) probably benign Het
Tfap4 T C 16: 4,369,224 (GRCm39) D132G probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tubgcp3 G T 8: 12,707,600 (GRCm39) P130T probably damaging Het
Txlnb A G 10: 17,703,673 (GRCm39) E277G probably damaging Het
Other mutations in 4930503B20Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0211:4930503B20Rik UTSW 3 146,356,251 (GRCm39) missense probably benign
R1131:4930503B20Rik UTSW 3 146,356,837 (GRCm39) missense probably damaging 1.00
R1523:4930503B20Rik UTSW 3 146,356,864 (GRCm39) missense probably damaging 1.00
R2281:4930503B20Rik UTSW 3 146,352,179 (GRCm39) missense probably damaging 0.99
R2520:4930503B20Rik UTSW 3 146,356,261 (GRCm39) missense probably damaging 0.99
R3896:4930503B20Rik UTSW 3 146,356,868 (GRCm39) missense possibly damaging 0.88
R5196:4930503B20Rik UTSW 3 146,352,018 (GRCm39) utr 3 prime probably benign
R5394:4930503B20Rik UTSW 3 146,356,713 (GRCm39) missense probably damaging 1.00
R5394:4930503B20Rik UTSW 3 146,356,363 (GRCm39) missense probably damaging 1.00
R5645:4930503B20Rik UTSW 3 146,356,264 (GRCm39) missense probably damaging 0.98
R5894:4930503B20Rik UTSW 3 146,356,680 (GRCm39) missense probably benign 0.40
R6574:4930503B20Rik UTSW 3 146,356,613 (GRCm39) missense probably benign 0.02
R6830:4930503B20Rik UTSW 3 146,356,716 (GRCm39) missense possibly damaging 0.90
R7604:4930503B20Rik UTSW 3 146,356,415 (GRCm39) nonsense probably null
R9771:4930503B20Rik UTSW 3 146,356,743 (GRCm39) missense possibly damaging 0.73
Z1176:4930503B20Rik UTSW 3 146,356,711 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCTCTTCTGGACCCAGTAATG -3'
(R):5'- CAAAGTACTAGGGGTGCCAC -3'

Sequencing Primer
(F):5'- TGGGACCTGAGAACAAACAGTCTC -3'
(R):5'- TGCGTCGTCCTCAGATATCAAGAG -3'
Posted On 2015-06-20