Incidental Mutation 'R2889:4930480E11Rik'
ID 260046
Institutional Source Beutler Lab
Gene Symbol 4930480E11Rik
Ensembl Gene ENSMUSG00000035651
Gene Name RIKEN cDNA 4930480E11 gene
Synonyms
MMRRC Submission 040477-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2889 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 77413249-77414734 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 77414288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 338 (I338F)
Ref Sequence ENSEMBL: ENSMUSP00000037594 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035626]
AlphaFold Q0VG34
Predicted Effect probably damaging
Transcript: ENSMUST00000035626
AA Change: I338F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121269
Meta Mutation Damage Score 0.2479 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam28 A T 14: 68,872,294 (GRCm39) M316K possibly damaging Het
Adamts20 C T 15: 94,228,459 (GRCm39) R996H probably benign Het
Ankrd6 C A 4: 32,818,704 (GRCm39) L207F probably damaging Het
Aurka A G 2: 172,209,040 (GRCm39) S54P probably benign Het
Ecpas T C 4: 58,836,165 (GRCm39) K725R probably benign Het
Kcnq5 T A 1: 21,472,526 (GRCm39) D879V probably damaging Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Msantd3 T C 4: 48,552,494 (GRCm39) Y28H possibly damaging Het
Npr2 T C 4: 43,641,600 (GRCm39) I468T probably benign Het
Or5p56 A T 7: 107,589,784 (GRCm39) I71F probably benign Het
Or6z3 T A 7: 6,463,940 (GRCm39) V144D probably damaging Het
Pcdhb9 G T 18: 37,536,276 (GRCm39) V757F probably benign Het
Pclo C A 5: 14,906,995 (GRCm39) H5000N unknown Het
Phex T C X: 156,093,954 (GRCm39) I439V probably benign Het
Pmfbp1 T C 8: 110,252,063 (GRCm39) Y403H probably damaging Het
Ppp1r3a T G 6: 14,718,248 (GRCm39) S889R possibly damaging Het
Rsrc2 A T 5: 123,874,620 (GRCm39) probably benign Het
Ryr1 T C 7: 28,778,166 (GRCm39) D2110G possibly damaging Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Son T C 16: 91,456,787 (GRCm39) probably benign Het
Spef2 G A 15: 9,630,699 (GRCm39) T1067I probably damaging Het
Vmn2r103 T C 17: 20,013,862 (GRCm39) L218P probably damaging Het
Vmn2r13 T C 5: 109,339,840 (GRCm39) D45G possibly damaging Het
Wdfy4 C A 14: 32,831,476 (GRCm39) E917* probably null Het
Zfhx2 T C 14: 55,302,260 (GRCm39) K1908R possibly damaging Het
Zfp189 A G 4: 49,521,547 (GRCm39) probably benign Het
Zfy1 G A Y: 726,307 (GRCm39) T486I possibly damaging Het
Other mutations in 4930480E11Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00764:4930480E11Rik APN X 77,413,625 (GRCm39) nonsense probably null
R2888:4930480E11Rik UTSW X 77,414,288 (GRCm39) missense probably damaging 0.99
R2890:4930480E11Rik UTSW X 77,414,288 (GRCm39) missense probably damaging 0.99
R2897:4930480E11Rik UTSW X 77,413,868 (GRCm39) nonsense probably null
R2898:4930480E11Rik UTSW X 77,413,868 (GRCm39) nonsense probably null
R7117:4930480E11Rik UTSW X 77,414,311 (GRCm39) missense probably benign 0.24
R7250:4930480E11Rik UTSW X 77,414,311 (GRCm39) missense probably benign 0.24
R7251:4930480E11Rik UTSW X 77,414,311 (GRCm39) missense probably benign 0.24
R7252:4930480E11Rik UTSW X 77,414,311 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- ATGATCTTTCTCTGTCCACCAAGG -3'
(R):5'- CCAAAGGGTGTCCACTCAATAC -3'

Sequencing Primer
(F):5'- TCCACCAAGGAGAAGTTTAAACATG -3'
(R):5'- GGGTGTCCACTCAATACAAATG -3'
Posted On 2015-01-23