Incidental Mutation 'R3924:4930550C14Rik'
ID 307094
Institutional Source Beutler Lab
Gene Symbol 4930550C14Rik
Ensembl Gene ENSMUSG00000005131
Gene Name RIKEN cDNA 4930550C14 gene
Synonyms
MMRRC Submission 040915-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R3924 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 53313814-53345726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 53343705 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 119 (V119F)
Ref Sequence ENSEMBL: ENSMUSP00000149814 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005262] [ENSMUST00000215668] [ENSMUST00000217318]
AlphaFold Q9D4W2
Predicted Effect probably benign
Transcript: ENSMUST00000005262
AA Change: V264F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000215668
AA Change: V119F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000217318
AA Change: V119F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 98% (39/40)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 A T 13: 59,648,221 (GRCm39) V533D probably benign Het
Ahnak G A 19: 8,983,692 (GRCm39) D1659N probably benign Het
Aldh3b3 A G 19: 4,018,491 (GRCm39) N402S probably damaging Het
Amn T C 12: 111,242,114 (GRCm39) V367A possibly damaging Het
Arpin A G 7: 79,579,435 (GRCm39) Y63H probably benign Het
Brinp2 A G 1: 158,073,778 (GRCm39) L781P probably damaging Het
Cdkl1 G T 12: 69,803,373 (GRCm39) R168S probably damaging Het
Cfap43 T C 19: 47,785,555 (GRCm39) K445R probably benign Het
Csad T C 15: 102,086,991 (GRCm39) S427G probably benign Het
Dach1 A G 14: 98,153,339 (GRCm39) V443A probably damaging Het
Dlat A G 9: 50,569,490 (GRCm39) S160P possibly damaging Het
Dpf1 A G 7: 29,011,098 (GRCm39) R165G possibly damaging Het
Dtd2 G C 12: 52,051,734 (GRCm39) probably null Het
Fa2h A G 8: 112,120,147 (GRCm39) Y80H probably damaging Het
Flii A G 11: 60,610,902 (GRCm39) F509S probably damaging Het
Fmo9 A G 1: 166,492,221 (GRCm39) S350P probably benign Het
Gabra4 A G 5: 71,799,596 (GRCm39) probably benign Het
Gm3604 A G 13: 62,518,044 (GRCm39) S105P probably damaging Het
Gpr155 T A 2: 73,200,420 (GRCm39) L362F probably damaging Het
Lmbrd2 T C 15: 9,149,624 (GRCm39) V86A probably benign Het
Lpcat4 G T 2: 112,077,061 (GRCm39) Q468H possibly damaging Het
Luzp1 T C 4: 136,270,168 (GRCm39) I797T probably damaging Het
Myh8 A T 11: 67,187,963 (GRCm39) I912F probably damaging Het
Notch2 G T 3: 98,029,350 (GRCm39) G1038* probably null Het
Nptx1 G T 11: 119,438,333 (GRCm39) T28N possibly damaging Het
Onecut2 A G 18: 64,474,591 (GRCm39) K381E probably damaging Het
Or9i2 T C 19: 13,816,130 (GRCm39) T136A probably damaging Het
Plekha5 A G 6: 140,516,105 (GRCm39) N317S possibly damaging Het
Polr1a A G 6: 71,906,434 (GRCm39) M417V probably benign Het
Ptpn13 T C 5: 103,698,607 (GRCm39) probably benign Het
Qrfpr T C 3: 36,276,072 (GRCm39) N106S possibly damaging Het
Rasd2 A G 8: 75,948,602 (GRCm39) N176S probably damaging Het
Rsbn1l A G 5: 21,124,785 (GRCm39) V339A probably damaging Het
Ryr3 A G 2: 112,859,048 (GRCm39) probably benign Het
Shkbp1 A G 7: 27,041,827 (GRCm39) W676R probably benign Het
Sipa1 G A 19: 5,710,407 (GRCm39) T201I probably benign Het
Slc35g2 A T 9: 100,434,780 (GRCm39) I297N probably benign Het
Usp28 T C 9: 48,942,223 (GRCm39) probably null Het
Zfp946 G T 17: 22,674,682 (GRCm39) G479C probably benign Het
Other mutations in 4930550C14Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0310:4930550C14Rik UTSW 9 53,336,971 (GRCm39) missense probably damaging 1.00
R0625:4930550C14Rik UTSW 9 53,319,365 (GRCm39) missense probably benign
R1104:4930550C14Rik UTSW 9 53,332,917 (GRCm39) missense probably benign 0.28
R1292:4930550C14Rik UTSW 9 53,336,919 (GRCm39) missense probably benign 0.20
R2182:4930550C14Rik UTSW 9 53,334,243 (GRCm39) missense probably damaging 1.00
R4756:4930550C14Rik UTSW 9 53,336,830 (GRCm39) missense probably benign
R4757:4930550C14Rik UTSW 9 53,336,830 (GRCm39) missense probably benign
R4834:4930550C14Rik UTSW 9 53,343,787 (GRCm39) missense possibly damaging 0.78
R5244:4930550C14Rik UTSW 9 53,323,098 (GRCm39) missense probably damaging 1.00
R6151:4930550C14Rik UTSW 9 53,325,683 (GRCm39) missense probably damaging 1.00
R6353:4930550C14Rik UTSW 9 53,325,642 (GRCm39) missense probably benign 0.00
R6376:4930550C14Rik UTSW 9 53,339,456 (GRCm39) missense probably damaging 0.98
R6988:4930550C14Rik UTSW 9 53,323,056 (GRCm39) missense possibly damaging 0.63
R7163:4930550C14Rik UTSW 9 53,319,372 (GRCm39) missense possibly damaging 0.86
R7177:4930550C14Rik UTSW 9 53,325,685 (GRCm39) missense probably damaging 1.00
R7286:4930550C14Rik UTSW 9 53,334,317 (GRCm39) missense possibly damaging 0.85
R7381:4930550C14Rik UTSW 9 53,323,122 (GRCm39) missense probably damaging 1.00
R8146:4930550C14Rik UTSW 9 53,334,270 (GRCm39) missense probably damaging 1.00
R8975:4930550C14Rik UTSW 9 53,334,258 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- ACATGTGCTCAAAGTGTGGAC -3'
(R):5'- GGAATCCTTTCTGGTTACATGC -3'

Sequencing Primer
(F):5'- GACTATAGAGCAAGATTTAGTGTGTG -3'
(R):5'- CCGAACATGGAATCGGGTGTTAATC -3'
Posted On 2015-04-17