Incidental Mutation 'R0579:4921517D22Rik'
ID 56364
Institutional Source Beutler Lab
Gene Symbol 4921517D22Rik
Ensembl Gene ENSMUSG00000049902
Gene Name RIKEN cDNA 4921517D22 gene
Synonyms
MMRRC Submission 038769-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0579 (G1)
Quality Score 212
Status Validated
Chromosome 13
Chromosomal Location 59835216-59841917 bp(-) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) GCC to GC at 59839412 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061597] [ENSMUST00000225373]
AlphaFold Q8CET0
Predicted Effect probably null
Transcript: ENSMUST00000061597
Predicted Effect probably null
Transcript: ENSMUST00000225373
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225788
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 89% (34/38)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 G A 16: 20,369,398 (GRCm39) R260Q probably benign Het
Abcg3 A G 5: 105,121,969 (GRCm39) V136A probably damaging Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Ambra1 A G 2: 91,654,810 (GRCm39) N783S possibly damaging Het
Cd300ld2 A G 11: 114,903,125 (GRCm39) F240S probably benign Het
Cep83 A G 10: 94,584,915 (GRCm39) D340G possibly damaging Het
Crybg2 T A 4: 133,800,049 (GRCm39) I403N probably damaging Het
Dnah14 T A 1: 181,572,312 (GRCm39) M2881K possibly damaging Het
Erbb4 T C 1: 68,081,621 (GRCm39) M1138V probably benign Het
Evi5 A G 5: 107,969,575 (GRCm39) V112A probably benign Het
F2r A G 13: 95,754,857 (GRCm39) V9A probably benign Het
Flot1 C A 17: 36,141,900 (GRCm39) S337R probably benign Het
Glt28d2 G A 3: 85,779,440 (GRCm39) T11I probably damaging Het
Gm19345 A G 7: 19,588,901 (GRCm39) probably benign Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Hmgcs2 A T 3: 98,198,264 (GRCm39) I56F probably damaging Het
Ifna9 T A 4: 88,510,508 (GRCm39) T39S possibly damaging Het
Il21 T G 3: 37,281,923 (GRCm39) K74Q possibly damaging Het
Itpripl1 G T 2: 126,983,011 (GRCm39) Y370* probably null Het
Kif24 G A 4: 41,393,706 (GRCm39) P1056S probably damaging Het
L2hgdh A T 12: 69,748,046 (GRCm39) probably benign Het
Lipo2 A T 19: 33,724,298 (GRCm39) L156Q probably damaging Het
Nlrp4c T A 7: 6,063,844 (GRCm39) M84K probably benign Het
Npy4r G A 14: 33,868,640 (GRCm39) T216I probably benign Het
Or12d17 T C 17: 37,777,238 (GRCm39) V47A probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or6c1 A T 10: 129,518,106 (GRCm39) C167* probably null Het
Pafah1b2 T C 9: 45,880,011 (GRCm39) E222G probably benign Het
Pop1 T A 15: 34,510,115 (GRCm39) D406E possibly damaging Het
Proser1 A G 3: 53,374,572 (GRCm39) Y32C probably damaging Het
Ptprj C A 2: 90,266,913 (GRCm39) probably null Het
Slc1a3 T A 15: 8,717,793 (GRCm39) I100F probably damaging Het
Slc25a22 T C 7: 141,011,272 (GRCm39) D176G probably damaging Het
Stard7 T C 2: 127,126,473 (GRCm39) V99A probably damaging Het
Stk33 C T 7: 108,924,904 (GRCm39) V184I probably damaging Het
Timmdc1 A G 16: 38,342,745 (GRCm39) L51P probably benign Het
Tppp T C 13: 74,169,352 (GRCm39) S31P probably benign Het
Upf2 A T 2: 5,993,240 (GRCm39) R599W unknown Het
Vav1 G T 17: 57,586,271 (GRCm39) W25L probably benign Het
Other mutations in 4921517D22Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:4921517D22Rik APN 13 59,837,290 (GRCm39) missense probably benign 0.00
IGL01516:4921517D22Rik APN 13 59,838,548 (GRCm39) missense probably benign 0.00
PIT4677001:4921517D22Rik UTSW 13 59,838,305 (GRCm39) missense probably benign 0.12
R0395:4921517D22Rik UTSW 13 59,837,470 (GRCm39) missense possibly damaging 0.94
R0664:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0757:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0758:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0777:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0779:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0814:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0870:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0872:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R0873:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1062:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1064:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1149:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1149:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1151:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1152:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1207:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1207:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1285:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1339:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1358:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1359:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1360:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1361:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R1679:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
R4703:4921517D22Rik UTSW 13 59,837,342 (GRCm39) missense possibly damaging 0.94
R4785:4921517D22Rik UTSW 13 59,839,406 (GRCm39) missense probably benign
R4823:4921517D22Rik UTSW 13 59,838,718 (GRCm39) missense probably damaging 0.99
R5054:4921517D22Rik UTSW 13 59,837,315 (GRCm39) missense probably damaging 0.97
R6144:4921517D22Rik UTSW 13 59,837,347 (GRCm39) missense probably damaging 0.99
R6977:4921517D22Rik UTSW 13 59,839,394 (GRCm39) missense possibly damaging 0.66
R7009:4921517D22Rik UTSW 13 59,838,624 (GRCm39) missense possibly damaging 0.89
R7791:4921517D22Rik UTSW 13 59,838,508 (GRCm39) missense probably benign
R8319:4921517D22Rik UTSW 13 59,838,486 (GRCm39) missense probably benign
R8422:4921517D22Rik UTSW 13 59,839,443 (GRCm39) start codon destroyed probably null 0.01
R8520:4921517D22Rik UTSW 13 59,838,423 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- ACTGAAATGAAACTCCGGTGCCC -3'
(R):5'- TCACCAATGAAATGGTCAGAGCTGC -3'

Sequencing Primer
(F):5'- TCGCCTGCATGTGGTATCAT -3'
(R):5'- GCTACTTGAAACATGATTGACTCGAC -3'
Posted On 2013-07-11