Incidental Mutation 'R6988:4930550C14Rik'
ID 543089
Institutional Source Beutler Lab
Gene Symbol 4930550C14Rik
Ensembl Gene ENSMUSG00000005131
Gene Name RIKEN cDNA 4930550C14 gene
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R6988 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 53313814-53345726 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53323056 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 31 (V31I)
Ref Sequence ENSEMBL: ENSMUSP00000005262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005262] [ENSMUST00000215668] [ENSMUST00000217318]
AlphaFold Q9D4W2
Predicted Effect possibly damaging
Transcript: ENSMUST00000005262
AA Change: V31I

PolyPhen 2 Score 0.626 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000215668
Predicted Effect probably benign
Transcript: ENSMUST00000217318
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T G 4: 137,181,890 (GRCm39) L15W probably damaging Het
Aadacl4fm4 A G 4: 144,412,895 (GRCm39) F15S probably benign Het
Adgre1 C T 17: 57,715,445 (GRCm39) S255F probably benign Het
Aff4 T G 11: 53,289,064 (GRCm39) S404R probably damaging Het
Akr1c19 A T 13: 4,283,757 (GRCm39) probably benign Het
Ankrd31 T A 13: 97,014,757 (GRCm39) I1342K probably damaging Het
Arhgap5 T A 12: 52,564,908 (GRCm39) D626E possibly damaging Het
Arhgef1 G A 7: 24,616,348 (GRCm39) V332I probably benign Het
AY358078 A G 14: 52,063,644 (GRCm39) E430G probably damaging Het
B4gat1 T A 19: 5,090,462 (GRCm39) I395N probably benign Het
Bub1b T A 2: 118,467,311 (GRCm39) I878N probably damaging Het
Ccdc150 C T 1: 54,394,868 (GRCm39) Q745* probably null Het
Ccl19 A T 4: 42,754,885 (GRCm39) I87N probably damaging Het
Ces2g G C 8: 105,690,540 (GRCm39) G107A probably benign Het
Chpt1 A G 10: 88,324,268 (GRCm39) V180A probably damaging Het
Col2a1 T C 15: 97,902,335 (GRCm39) T14A unknown Het
Dnah7a T C 1: 53,621,784 (GRCm39) I1114V possibly damaging Het
Dnah7c T C 1: 46,705,373 (GRCm39) I2462T possibly damaging Het
Dnah8 T C 17: 30,862,249 (GRCm39) F208S probably damaging Het
Dnhd1 A G 7: 105,363,417 (GRCm39) E3993G probably damaging Het
Erv3 C T 2: 131,697,886 (GRCm39) D158N possibly damaging Het
Exoc6 T A 19: 37,597,539 (GRCm39) F647I probably damaging Het
Fbrs G A 7: 127,078,680 (GRCm39) probably benign Het
Fgfr1op2 T C 6: 146,491,463 (GRCm39) F109L probably damaging Het
Fv1 T C 4: 147,953,728 (GRCm39) F98S possibly damaging Het
H2-M10.1 T C 17: 36,636,484 (GRCm39) K107E probably benign Het
Hspg2 A T 4: 137,256,201 (GRCm39) Q1436L probably damaging Het
Ighv1-74 T C 12: 115,766,383 (GRCm39) Y79C probably damaging Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Mnt C A 11: 74,733,635 (GRCm39) probably benign Het
Mrpl15 T C 1: 4,852,883 (GRCm39) T112A probably benign Het
Ncdn T C 4: 126,640,982 (GRCm39) D506G probably benign Het
Ogdh C T 11: 6,263,806 (GRCm39) R81* probably null Het
Or6c2 T A 10: 129,362,542 (GRCm39) S149T probably benign Het
Or6c217 G C 10: 129,738,278 (GRCm39) F100L probably damaging Het
Pole G T 5: 110,477,449 (GRCm39) V1863F probably damaging Het
Pramel5 T C 4: 144,000,577 (GRCm39) probably benign Het
Rabep1 A G 11: 70,825,363 (GRCm39) K636E probably damaging Het
Rasgrf2 T A 13: 92,033,754 (GRCm39) Y1151F probably benign Het
Rrad A G 8: 105,357,268 (GRCm39) V93A probably damaging Het
Sesn3 A T 9: 14,221,553 (GRCm39) R118* probably null Het
Slc27a3 T C 3: 90,293,597 (GRCm39) N596S probably benign Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Spata31h1 T C 10: 82,127,733 (GRCm39) D1759G possibly damaging Het
Supt20 T C 3: 54,606,018 (GRCm39) S35P probably damaging Het
Syde2 G T 3: 145,725,564 (GRCm39) R885L probably benign Het
Synm G A 7: 67,383,406 (GRCm39) L1419F probably damaging Het
Tekt2 A G 4: 126,217,236 (GRCm39) F221L probably benign Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmem39b A G 4: 129,586,941 (GRCm39) I90T possibly damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trib2 A G 12: 15,865,339 (GRCm39) S79P probably damaging Het
Usp32 T C 11: 84,900,969 (GRCm39) M1084V probably benign Het
Vmn1r181 T C 7: 23,684,272 (GRCm39) F246L probably damaging Het
Wnt16 A G 6: 22,288,510 (GRCm39) D2G probably damaging Het
Zfp462 A G 4: 55,080,716 (GRCm39) E1357G probably benign Het
Zhx3 A G 2: 160,621,788 (GRCm39) M793T 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
R3924:4930550C14Rik UTSW 9 53,343,705 (GRCm39) missense probably benign
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
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
Posted On 2018-11-28