Incidental Mutation 'R4823:4921517D22Rik'
ID 371325
Institutional Source Beutler Lab
Gene Symbol 4921517D22Rik
Ensembl Gene ENSMUSG00000049902
Gene Name RIKEN cDNA 4921517D22 gene
Synonyms
MMRRC Submission 042439-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R4823 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 59835216-59841917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 59838718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 38 (E38A)
Ref Sequence ENSEMBL: ENSMUSP00000153380 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061597] [ENSMUST00000225373]
AlphaFold Q8CET0
Predicted Effect possibly damaging
Transcript: ENSMUST00000061597
AA Change: E38A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Predicted Effect probably damaging
Transcript: ENSMUST00000225373
AA Change: E38A

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225788
Meta Mutation Damage Score 0.1259 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 98% (96/98)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik G A 5: 88,120,457 (GRCm39) D405N probably benign Het
4930433I11Rik A T 7: 40,642,786 (GRCm39) I152F probably benign Het
Aass A T 6: 23,107,690 (GRCm39) D364E probably benign Het
Adamts2 A G 11: 50,628,014 (GRCm39) D238G probably benign Het
Albfm1 T A 5: 90,714,362 (GRCm39) L124H probably benign Het
Aoc1l1 A G 6: 48,952,195 (GRCm39) D40G probably damaging Het
Aplf G A 6: 87,623,237 (GRCm39) L302F probably damaging Het
Apol7b G T 15: 77,311,982 (GRCm39) probably benign Het
Arhgef12 A G 9: 42,931,992 (GRCm39) V165A probably benign Het
Ascc3 T C 10: 50,589,329 (GRCm39) S1017P probably damaging Het
B230104I21Rik T A 4: 154,434,204 (GRCm39) probably benign Het
Bfsp2 C A 9: 103,357,082 (GRCm39) C115F probably damaging Het
Bhmt2 A T 13: 93,799,798 (GRCm39) W213R probably benign Het
Capn5 A T 7: 97,775,648 (GRCm39) V431E probably damaging Het
Ccdc88c A G 12: 100,896,802 (GRCm39) Y1390H probably damaging Het
Ccr3 A G 9: 123,828,718 (GRCm39) T18A probably damaging Het
Cdh5 T C 8: 104,869,301 (GRCm39) S676P probably benign Het
Ceacam5 A G 7: 17,491,669 (GRCm39) T680A possibly damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cfd T C 10: 79,726,782 (GRCm39) V8A probably benign Het
Cops9 C T 1: 92,569,588 (GRCm39) probably benign Het
Cpne6 T C 14: 55,754,467 (GRCm39) Y533H probably damaging Het
Cyp2c67 T A 19: 39,604,168 (GRCm39) H396L probably benign Het
Cyp2j9 G A 4: 96,456,972 (GRCm39) P500S possibly damaging Het
Cyp4a12a A T 4: 115,184,610 (GRCm39) probably null Het
Dbt G A 3: 116,317,036 (GRCm39) D71N probably damaging Het
Ddx41 G T 13: 55,679,868 (GRCm39) Q440K probably benign Het
Elovl4 A G 9: 83,662,738 (GRCm39) F174S probably damaging Het
Emcn C G 3: 137,129,187 (GRCm39) P193R probably damaging Het
Etnk1 T C 6: 143,113,364 (GRCm39) probably null Het
Fads3 A C 19: 10,019,252 (GRCm39) S53R probably damaging Het
Fam193a A G 5: 34,616,372 (GRCm39) E849G probably damaging Het
Fat3 A G 9: 15,907,803 (GRCm39) V2733A probably benign Het
Frem3 T A 8: 81,340,587 (GRCm39) M960K probably benign Het
Frmd6 A T 12: 70,919,349 (GRCm39) I62L probably benign Het
Glmp T C 3: 88,232,530 (GRCm39) probably benign Het
Gm17421 T C 12: 113,333,161 (GRCm39) noncoding transcript Het
Gm27013 T A 6: 130,499,186 (GRCm39) noncoding transcript Het
Gtf2ird1 A G 5: 134,424,576 (GRCm39) V390A probably damaging Het
Hps3 A G 3: 20,066,890 (GRCm39) Y559H probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Itpr3 A G 17: 27,304,121 (GRCm39) D114G probably benign Het
Jmjd4 G A 11: 59,346,406 (GRCm39) A408T probably benign Het
Kcnh4 G T 11: 100,646,000 (GRCm39) A316D probably damaging Het
Klrg1 T A 6: 122,250,492 (GRCm39) probably null Het
Lancl2 T A 6: 57,709,262 (GRCm39) Y355N probably damaging Het
Ltb T C 17: 35,414,206 (GRCm39) S115P probably benign Het
Mccc2 T G 13: 100,136,762 (GRCm39) R64S probably benign Het
Mgam2-ps T A 6: 40,809,596 (GRCm39) noncoding transcript Het
Mrrf T G 2: 36,038,042 (GRCm39) N104K possibly damaging Het
Nipa1 C A 7: 55,629,436 (GRCm39) V226L possibly damaging Het
Numa1 T A 7: 101,645,244 (GRCm39) L290Q probably damaging Het
Ofcc1 T A 13: 40,433,949 (GRCm39) H52L probably damaging Het
Ogfod3 G A 11: 121,086,027 (GRCm39) A189V probably benign Het
Or14c39 T A 7: 86,343,796 (GRCm39) I44N probably damaging Het
Or5b21 A T 19: 12,839,180 (GRCm39) I14F probably benign Het
Or5d46 A G 2: 88,170,179 (GRCm39) D90G probably damaging Het
Or9i1b G A 19: 13,897,022 (GRCm39) V213I probably benign Het
P2ry12 G A 3: 59,125,318 (GRCm39) S119L probably benign Het
Pde7b T A 10: 20,314,531 (GRCm39) N192Y probably damaging Het
Pfkl T C 10: 77,833,428 (GRCm39) N258S probably damaging Het
Phykpl G A 11: 51,477,420 (GRCm39) A71T probably damaging Het
Ppp1r16a T C 15: 76,577,393 (GRCm39) probably benign Het
Pramel15 T C 4: 144,099,781 (GRCm39) N328S possibly damaging Het
Pramel32 T C 4: 88,547,452 (GRCm39) K160R probably damaging Het
Prune2 C T 19: 17,097,868 (GRCm39) T1124M probably damaging Het
Rapgef6 A G 11: 54,585,326 (GRCm39) I1570V probably benign Het
Rbm34 T C 8: 127,697,655 (GRCm39) S19G probably benign Het
Rnf10 T C 5: 115,393,501 (GRCm39) probably null Het
Rnf34 A G 5: 122,988,365 (GRCm39) probably null Het
Setd4 A G 16: 93,386,838 (GRCm39) S287P probably benign Het
Shc3 C T 13: 51,605,606 (GRCm39) V225I probably benign Het
Sipa1l3 C T 7: 29,070,427 (GRCm39) V1030I probably damaging Het
Siva1 G T 12: 112,611,498 (GRCm39) R33L probably damaging Het
Slc4a5 C T 6: 83,249,115 (GRCm39) T573I probably damaging Het
Sorcs1 C T 19: 50,666,578 (GRCm39) R110Q possibly damaging Het
Sorcs1 T C 19: 50,218,740 (GRCm39) I581V possibly damaging Het
Sorl1 T C 9: 41,903,617 (GRCm39) D1545G probably damaging Het
Tas2r124 T G 6: 132,732,509 (GRCm39) S273A probably damaging Het
Tcf15 T C 2: 151,985,813 (GRCm39) F90L probably damaging Het
Trim59 G A 3: 68,944,453 (GRCm39) R296C probably benign Het
Tulp1 A T 17: 28,572,546 (GRCm39) D229E probably benign Het
Ush1c T A 7: 45,845,157 (GRCm39) N886I probably benign Het
Usp9y A T Y: 1,444,559 (GRCm39) S127T probably damaging Het
Vmn1r19 T A 6: 57,382,219 (GRCm39) Y257* probably null Het
Vmn2r109 A T 17: 20,774,153 (GRCm39) Y401N probably damaging Het
Vmn2r69 A C 7: 85,060,508 (GRCm39) S359A probably benign Het
Zfp37 A T 4: 62,109,740 (GRCm39) N479K 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
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
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
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'- TGGAGCAATGTAACCCATTAACAG -3'
(R):5'- CGCTACTGGTGCAGTTTACTG -3'

Sequencing Primer
(F):5'- ATCTGACATGGACGGTGACCTC -3'
(R):5'- TACTGAGAGAATGACACCTTGC -3'
Posted On 2016-03-01