Incidental Mutation 'R2890:4930480E11Rik'
ID 260083
Institutional Source Beutler Lab
Gene Symbol 4930480E11Rik
Ensembl Gene ENSMUSG00000035651
Gene Name RIKEN cDNA 4930480E11 gene
Synonyms
MMRRC Submission 040478-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # R2890 (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: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,895,417 (GRCm39) I167V probably benign Het
Adamts20 C T 15: 94,228,459 (GRCm39) R996H probably benign Het
Amdhd1 T C 10: 93,363,126 (GRCm39) K321E probably benign Het
Baz1a T C 12: 54,945,302 (GRCm39) H1351R probably benign Het
Cep63 T C 9: 102,496,026 (GRCm39) D127G probably damaging Het
Chrm5 T C 2: 112,310,048 (GRCm39) Y356C probably benign Het
Dock4 A T 12: 40,673,800 (GRCm39) probably null Het
Dync1h1 T C 12: 110,583,325 (GRCm39) L474P probably damaging Het
Fzd7 C T 1: 59,523,593 (GRCm39) A492V probably benign Het
Greb1 A G 12: 16,754,479 (GRCm39) L876P probably damaging Het
Grik4 T C 9: 42,582,515 (GRCm39) T144A probably damaging Het
Gusb T C 5: 130,029,343 (GRCm39) H146R probably damaging Het
Hspg2 T C 4: 137,276,885 (GRCm39) V2835A probably damaging Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Lcn10 T C 2: 25,573,642 (GRCm39) L73P probably damaging Het
Nostrin A G 2: 69,011,249 (GRCm39) T347A probably benign Het
Or4k41 A T 2: 111,279,634 (GRCm39) I50F probably benign Het
Pcdhb9 G A 18: 37,536,379 (GRCm39) C791Y probably benign Het
Phex T C X: 156,093,954 (GRCm39) I439V probably benign Het
Rbsn C T 6: 92,184,104 (GRCm39) V70M possibly damaging Het
Slc25a1 A T 16: 17,743,963 (GRCm39) L251Q probably damaging Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Srek1ip1 A T 13: 104,970,758 (GRCm39) I70L probably benign Het
Taf4b T C 18: 14,937,849 (GRCm39) S278P probably damaging Het
Ttn T C 2: 76,726,498 (GRCm39) probably benign Het
Vmn2r13 T C 5: 109,339,840 (GRCm39) D45G possibly damaging Het
Vmn2r66 C T 7: 84,661,027 (GRCm39) probably null Het
Ylpm1 G T 12: 85,076,587 (GRCm39) R646L probably damaging Het
Zfp51 C G 17: 21,684,118 (GRCm39) C244W probably damaging Het
Zfp619 C A 7: 39,184,393 (GRCm39) T141K probably benign 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
R2889:4930480E11Rik 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'- CCAAGGAGAAGTTTAAACATGGACC -3'
(R):5'- CCAAAGGGTGTCCACTCAATAC -3'

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