Incidental Mutation 'R4347:4930503E14Rik'
ID 328378
Institutional Source Beutler Lab
Gene Symbol 4930503E14Rik
Ensembl Gene ENSMUSG00000072595
Gene Name RIKEN cDNA 4930503E14 gene
Synonyms
MMRRC Submission 041102-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R4347 (G1)
Quality Score 115
Status Validated
Chromosome 14
Chromosomal Location 44400624-44408828 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 44408635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 66 (R66S)
Ref Sequence ENSEMBL: ENSMUSP00000154312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100688] [ENSMUST00000226164]
AlphaFold Q9D583
Predicted Effect possibly damaging
Transcript: ENSMUST00000100688
AA Change: R42S

PolyPhen 2 Score 0.505 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000098254
Gene: ENSMUSG00000072595
AA Change: R42S

DomainStartEndE-ValueType
Pfam:Takusan 48 128 3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000226164
AA Change: R66S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226475
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921536K21Rik C T 11: 3,840,122 (GRCm39) V92M probably damaging Het
Abca5 A T 11: 110,190,794 (GRCm39) I772N probably damaging Het
Acox1 T C 11: 116,089,487 (GRCm39) N15S probably benign Het
Arhgap28 C T 17: 68,180,137 (GRCm39) V233I probably benign Het
Chil4 T C 3: 106,110,144 (GRCm39) I317V probably benign Het
Dvl3 G A 16: 20,350,049 (GRCm39) R645H possibly damaging Het
Efl1 A T 7: 82,347,174 (GRCm39) M567L probably damaging Het
Gal3st2b C T 1: 93,867,530 (GRCm39) T59I probably damaging Het
Gm7135 T A 1: 97,276,035 (GRCm39) noncoding transcript Het
Gpihbp1 T G 15: 75,470,017 (GRCm39) *124G probably null Het
Igkv10-96 T A 6: 68,609,164 (GRCm39) R44W probably benign Het
Igkv13-84 T A 6: 68,916,760 (GRCm39) I19K probably benign Het
Kcnab1 A G 3: 65,204,896 (GRCm39) probably benign Het
Kif1b C A 4: 149,331,691 (GRCm39) G545C probably damaging Het
Mprip T C 11: 59,650,279 (GRCm39) S1328P possibly damaging Het
Nrp1 T C 8: 129,207,472 (GRCm39) probably null Het
Olfml1 C T 7: 107,167,040 (GRCm39) P23L probably benign Het
Plekhh2 G A 17: 84,927,130 (GRCm39) A1457T probably benign Het
Prr27 A G 5: 87,990,531 (GRCm39) I40V possibly damaging Het
Slc25a54 A G 3: 109,010,055 (GRCm39) T185A possibly damaging Het
Srek1 C T 13: 103,885,267 (GRCm39) G396D probably null Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Trim3 C T 7: 105,268,594 (GRCm39) G120D probably damaging Het
Usp5 T A 6: 124,798,158 (GRCm39) Q409L probably damaging Het
Vim T G 2: 13,580,329 (GRCm39) probably benign Het
Other mutations in 4930503E14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00778:4930503E14Rik APN 14 44,401,391 (GRCm39) missense probably benign 0.10
IGL01995:4930503E14Rik APN 14 44,401,302 (GRCm39) utr 3 prime probably benign
R2925:4930503E14Rik UTSW 14 44,407,755 (GRCm39) missense probably damaging 0.98
R4067:4930503E14Rik UTSW 14 44,406,641 (GRCm39) missense probably damaging 0.99
R4414:4930503E14Rik UTSW 14 44,406,690 (GRCm39) missense probably benign 0.00
R4504:4930503E14Rik UTSW 14 44,407,899 (GRCm39) missense probably damaging 0.98
R5047:4930503E14Rik UTSW 14 44,406,698 (GRCm39) missense possibly damaging 0.87
R7489:4930503E14Rik UTSW 14 44,407,756 (GRCm39) missense probably damaging 0.99
R9665:4930503E14Rik UTSW 14 44,407,796 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCTCAGGGCATTCGTTGAC -3'
(R):5'- CAGCTTGTGGGATATTCCTTCAG -3'

Sequencing Primer
(F):5'- CAGGGCATTCGTTGACACTTTAAATG -3'
(R):5'- AGTGCCTTTTGCGTTCTCAATCAG -3'
Posted On 2015-07-07