Incidental Mutation 'BB010:4933414I15Rik'
ID 642589
Institutional Source Beutler Lab
Gene Symbol 4933414I15Rik
Ensembl Gene ENSMUSG00000072983
Gene Name RIKEN cDNA 4933414I15 gene
Synonyms ENSMUSG00000051192
Accession Numbers
Essential gene? Probably non essential (E-score: 0.085) question?
Stock # BB010
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 50832527-50834552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50833227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 125 (V125A)
Ref Sequence ENSEMBL: ENSMUSP00000104751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109123]
AlphaFold Q9D4D5
Predicted Effect unknown
Transcript: ENSMUST00000109123
AA Change: V125A
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 T A 8: 44,103,911 (GRCm39) H578L probably damaging Het
Ago4 A T 4: 126,400,811 (GRCm39) M678K probably benign Het
Atosb A T 4: 43,035,919 (GRCm39) C271S probably benign Het
Atrn T C 2: 130,836,986 (GRCm39) L1150P probably damaging Het
Camta1 C T 4: 151,168,214 (GRCm39) E279K probably damaging Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Col11a2 A T 17: 34,275,029 (GRCm39) K400* probably null Het
Cpsf4 T A 5: 145,104,168 (GRCm39) M1K probably null Het
Dnah12 A T 14: 26,488,072 (GRCm39) Q992L probably benign Het
Dnajc7 T C 11: 100,487,038 (GRCm39) Y145C probably damaging Het
Eml5 A T 12: 98,810,279 (GRCm39) D892E possibly damaging Het
Fam193a A G 5: 34,623,539 (GRCm39) K23E possibly damaging Het
Filip1 T G 9: 79,727,329 (GRCm39) K430T possibly damaging Het
Gm5089 T C 14: 122,673,403 (GRCm39) D106G unknown Het
Hip1 A T 5: 135,489,310 (GRCm39) N45K probably damaging Het
Hivep2 T C 10: 14,003,581 (GRCm39) S60P probably damaging Het
Ighv1-53 A T 12: 115,122,029 (GRCm39) C115* probably null Het
Macf1 T C 4: 123,303,444 (GRCm39) T353A probably benign Het
Mast3 A T 8: 71,239,279 (GRCm39) V433E probably damaging Het
Mast4 A T 13: 102,909,071 (GRCm39) M660K probably damaging Het
Nr2e1 T C 10: 42,439,379 (GRCm39) Y380C probably damaging Het
Or10g9b T C 9: 39,918,431 (GRCm39) probably benign Het
Or5b111 T A 19: 13,291,569 (GRCm39) M27L probably benign Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
Slc6a1 T A 6: 114,288,859 (GRCm39) W473R probably damaging Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Spata31d1e A G 13: 59,891,565 (GRCm39) L85P probably damaging Het
Sprr3 T C 3: 92,364,515 (GRCm39) I110V possibly damaging Het
Ston1 A G 17: 88,943,572 (GRCm39) E326G probably benign Het
Tapbpl T G 6: 125,207,233 (GRCm39) Q152P probably damaging Het
Tectb C T 19: 55,183,105 (GRCm39) L319F possibly damaging Het
Tpp2 G A 1: 44,000,121 (GRCm39) G413D probably damaging Het
Tpsg1 A G 17: 25,592,178 (GRCm39) H84R probably damaging Het
Usp24 A G 4: 106,285,686 (GRCm39) N2437S probably benign Het
Usp32 T C 11: 84,897,885 (GRCm39) Q1152R probably damaging Het
Vmn2r6 T C 3: 64,467,224 (GRCm39) T92A probably benign Het
Xpo7 A G 14: 70,944,788 (GRCm39) V35A probably benign Het
Zan T A 5: 137,461,841 (GRCm39) T1113S unknown Het
Zfp169 A G 13: 48,643,957 (GRCm39) V390A unknown Het
Other mutations in 4933414I15Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02269:4933414I15Rik APN 11 50,833,425 (GRCm39) missense unknown
IGL02598:4933414I15Rik APN 11 50,834,448 (GRCm39) start codon destroyed probably null
BB020:4933414I15Rik UTSW 11 50,833,227 (GRCm39) missense unknown
R2384:4933414I15Rik UTSW 11 50,833,333 (GRCm39) missense unknown
R5226:4933414I15Rik UTSW 11 50,833,416 (GRCm39) missense unknown
R6514:4933414I15Rik UTSW 11 50,833,569 (GRCm39) missense unknown
R7933:4933414I15Rik UTSW 11 50,833,227 (GRCm39) missense unknown
R8219:4933414I15Rik UTSW 11 50,833,363 (GRCm39) missense unknown
R8700:4933414I15Rik UTSW 11 50,833,344 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GGACTCTCCATCATTTCGGTTG -3'
(R):5'- AGTCAGCGACAGTGTCTCTC -3'

Sequencing Primer
(F):5'- GTTTGACGACGTCTTTCCAGAC -3'
(R):5'- ATGCTGGCCAGTGAAACC -3'
Posted On 2020-08-01