Incidental Mutation 'R0664:4921517D22Rik'
ID 61952
Institutional Source Beutler Lab
Gene Symbol 4921517D22Rik
Ensembl Gene ENSMUSG00000049902
Gene Name RIKEN cDNA 4921517D22 gene
Synonyms
MMRRC Submission 038849-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R0664 (G1)
Quality Score 100
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: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik T C 17: 48,473,759 (GRCm39) I53V probably benign Het
Abtb3 G A 10: 85,224,234 (GRCm39) A348T possibly damaging Het
Agmo A T 12: 37,302,571 (GRCm39) H136L probably damaging Het
B020004C17Rik G A 14: 57,254,225 (GRCm39) R116H possibly damaging Het
Cacna1b A G 2: 24,544,458 (GRCm39) S1243P probably damaging Het
Champ1 G A 8: 13,929,485 (GRCm39) V548M probably damaging Het
Dnah7b A T 1: 46,364,002 (GRCm39) M3541L probably damaging Het
Emc9 A G 14: 55,819,365 (GRCm39) L138P possibly damaging Het
Epcam T A 17: 87,947,398 (GRCm39) Y51N possibly damaging Het
Gpr55 A T 1: 85,868,739 (GRCm39) S281T probably benign Het
Grid2ip T A 5: 143,349,732 (GRCm39) probably null Het
Hgfac G T 5: 35,205,522 (GRCm39) V601F probably benign Het
Hlcs A G 16: 94,032,170 (GRCm39) W545R probably damaging Het
Hsd17b2 T C 8: 118,485,440 (GRCm39) V301A possibly damaging Het
Ipo8 A T 6: 148,701,711 (GRCm39) L466I probably benign Het
Jcad A G 18: 4,676,063 (GRCm39) D1275G probably damaging Het
Mdn1 G T 4: 32,768,011 (GRCm39) E5315* probably null Het
Nfam1 T C 15: 82,899,139 (GRCm39) T176A probably damaging Het
Nsd3 T C 8: 26,204,267 (GRCm39) F432S probably damaging Het
Or4c31 C T 2: 88,292,515 (GRCm39) P296L probably damaging Het
Prmt5 G T 14: 54,745,313 (GRCm39) T618K probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Serpinb7 A G 1: 107,356,037 (GRCm39) D20G probably damaging Het
Slco1a4 T C 6: 141,758,467 (GRCm39) I515V probably benign Het
Stk26 T A X: 49,976,803 (GRCm39) Y283* probably null Het
Tanc1 A T 2: 59,674,228 (GRCm39) K1778* probably null Het
Thada A G 17: 84,644,257 (GRCm39) L1288P probably damaging Het
Ttbk2 C A 2: 120,579,302 (GRCm39) V607F probably 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
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 2013-07-30