Incidental Mutation 'R1679:4921517D22Rik'
ID 188366
Institutional Source Beutler Lab
Gene Symbol 4921517D22Rik
Ensembl Gene ENSMUSG00000049902
Gene Name RIKEN cDNA 4921517D22 gene
Synonyms
MMRRC Submission 039715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R1679 (G1)
Quality Score 217
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: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A G 12: 113,508,376 (GRCm39) M250V probably benign Het
Adgre5 C A 8: 84,456,034 (GRCm39) R254L probably benign Het
Adgrv1 A T 13: 81,707,671 (GRCm39) L525Q probably damaging Het
Ano9 T A 7: 140,688,210 (GRCm39) I205F probably benign Het
Bmp5 T C 9: 75,746,877 (GRCm39) V245A probably benign Het
Capn8 T C 1: 182,441,032 (GRCm39) S489P probably damaging Het
Ccdc85a A G 11: 28,533,316 (GRCm39) L76P probably damaging Het
Cd164l2 A G 4: 132,948,810 (GRCm39) T49A probably benign Het
Cdc25c T C 18: 34,880,348 (GRCm39) T129A probably damaging Het
Cfap43 T C 19: 47,761,553 (GRCm39) D847G probably benign Het
Crim1 G A 17: 78,508,228 (GRCm39) A11T probably benign Het
Cul9 A T 17: 46,832,082 (GRCm39) L1449H possibly damaging Het
Cyp2a22 T A 7: 26,635,736 (GRCm39) K276* probably null Het
Cyp2c50 C A 19: 40,099,859 (GRCm39) T430K possibly damaging Het
Ddb2 C T 2: 91,064,595 (GRCm39) R105Q probably benign Het
Emilin1 T C 5: 31,077,543 (GRCm39) Y900H probably benign Het
Eml3 T C 19: 8,914,001 (GRCm39) F100L probably damaging Het
Eps8l2 G A 7: 140,940,970 (GRCm39) G542D probably damaging Het
Fbf1 A G 11: 116,041,843 (GRCm39) probably null Het
Gm21886 T C 18: 80,132,954 (GRCm39) Y68C probably damaging Het
H2-Q10 A G 17: 35,784,492 (GRCm39) probably benign Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Il1rl2 A G 1: 40,382,320 (GRCm39) T211A probably benign Het
Incenp T C 19: 9,872,778 (GRCm39) D16G unknown Het
Isg20l2 T A 3: 87,839,392 (GRCm39) M201K probably damaging Het
Kansl1 A T 11: 104,314,822 (GRCm39) S405R probably damaging Het
Kdsr T A 1: 106,680,956 (GRCm39) I81F probably benign Het
Leprotl1 T G 8: 34,607,986 (GRCm39) L7F probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mtmr2 T A 9: 13,700,373 (GRCm39) I60K probably damaging Het
Mto1 A G 9: 78,372,245 (GRCm39) T572A probably benign Het
Nipbl G A 15: 8,332,396 (GRCm39) T2287I probably benign Het
Nutm2 A G 13: 50,623,422 (GRCm39) T40A probably benign Het
Nxf1 T C 19: 8,746,438 (GRCm39) S550P probably benign Het
Or5p4 A T 7: 107,680,859 (GRCm39) N286I probably damaging Het
Phactr1 G A 13: 43,210,756 (GRCm39) V193I possibly damaging Het
Phactr1 A T 13: 43,248,257 (GRCm39) Y317F possibly damaging Het
Pih1d1 T C 7: 44,809,250 (GRCm39) probably null Het
Rictor T C 15: 6,797,571 (GRCm39) I309T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ruvbl2 T C 7: 45,074,391 (GRCm39) D216G probably damaging Het
Slc20a2 T G 8: 23,028,846 (GRCm39) S106A possibly damaging Het
Srprb A G 9: 103,069,406 (GRCm39) probably benign Het
Stx11 A T 10: 12,817,580 (GRCm39) I48N probably damaging Het
Vmn1r29 A T 6: 58,285,003 (GRCm39) Y241F probably damaging Het
Wdfy1 A T 1: 79,685,192 (GRCm39) C347* probably null Het
Zfp683 T C 4: 133,785,956 (GRCm39) V361A possibly damaging 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
R0579:4921517D22Rik UTSW 13 59,839,412 (GRCm39) frame shift probably null
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
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 2014-05-09