Incidental Mutation 'R5927:D630036H23Rik'
ID 501943
Institutional Source Beutler Lab
Gene Symbol D630036H23Rik
Ensembl Gene ENSMUSG00000091007
Gene Name RIKEN cDNA D630036H23 gene
MMRRC Submission 044122-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R5927 (G1)
Quality Score 71
Status Validated
Chromosome 12
Chromosomal Location 36431241-36432180 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 36431671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152872 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062041] [ENSMUST00000171007] [ENSMUST00000220519] [ENSMUST00000221177] [ENSMUST00000221452] [ENSMUST00000221895] [ENSMUST00000223205] [ENSMUST00000223068]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000062041
SMART Domains Protein: ENSMUSP00000061646
Gene: ENSMUSG00000043153

Pfam:IspD 45 277 2.5e-40 PFAM
Pfam:NTP_transf_3 47 274 3.1e-11 PFAM
low complexity region 359 370 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000171007
AA Change: G109V
SMART Domains Protein: ENSMUSP00000131751
Gene: ENSMUSG00000091007
AA Change: G109V

low complexity region 148 163 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000220519
Predicted Effect probably benign
Transcript: ENSMUST00000221177
Predicted Effect probably benign
Transcript: ENSMUST00000221452
Predicted Effect probably benign
Transcript: ENSMUST00000221895
Predicted Effect probably benign
Transcript: ENSMUST00000223205
Predicted Effect probably benign
Transcript: ENSMUST00000223068
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T A 3: 153,644,745 (GRCm39) I60F probably damaging Het
Ankrd26 A G 6: 118,484,597 (GRCm39) probably null Het
Arhgdib A T 6: 136,901,136 (GRCm39) W198R probably damaging Het
Atad5 T A 11: 80,018,111 (GRCm39) I1354N probably damaging Het
Ccdc146 T A 5: 21,513,619 (GRCm39) K500* probably null Het
Cdk11b G A 4: 155,732,697 (GRCm39) probably benign Het
Cmip A T 8: 117,984,048 (GRCm39) T70S possibly damaging Het
Col22a1 G T 15: 71,878,815 (GRCm39) A114E probably damaging Het
Cpeb1 T C 7: 81,011,428 (GRCm39) D171G possibly damaging Het
Crebzf C T 7: 90,093,531 (GRCm39) probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah5 A T 15: 28,335,864 (GRCm39) T2277S probably benign Het
Dysf T A 6: 84,184,194 (GRCm39) F2083Y probably damaging Het
Elavl4 T A 4: 110,147,440 (GRCm39) probably benign Het
Elp3 A G 14: 65,819,626 (GRCm39) Y111H probably damaging Het
Eps8l2 A T 7: 140,936,259 (GRCm39) Q243L probably benign Het
Eri2 C A 7: 119,385,291 (GRCm39) L403F probably damaging Het
Fgfr4 T A 13: 55,314,700 (GRCm39) N614K probably damaging Het
Gm5108 T G 5: 68,134,214 (GRCm39) I74S unknown Het
Gpn1 T C 5: 31,658,235 (GRCm39) F130L probably damaging Het
Gpr176 T A 2: 118,203,521 (GRCm39) I50F probably benign Het
Gramd1a A G 7: 30,839,246 (GRCm39) S221P probably benign Het
Hivep3 A G 4: 119,954,305 (GRCm39) T874A possibly damaging Het
Igkv12-40 A G 6: 69,856,383 (GRCm39) noncoding transcript Het
Itgb2 C A 10: 77,381,868 (GRCm39) P57T probably damaging Het
Kcmf1 T A 6: 72,819,988 (GRCm39) D286V possibly damaging Het
Kcnt1 T A 2: 25,799,388 (GRCm39) probably benign Het
Kif15 A G 9: 122,846,326 (GRCm39) S76G probably benign Het
Kpna3 C T 14: 61,622,096 (GRCm39) V223I probably damaging Het
Krt80 A G 15: 101,262,089 (GRCm39) probably benign Het
Lama4 A G 10: 38,948,808 (GRCm39) Y857C probably damaging Het
Lcorl G T 5: 45,882,766 (GRCm39) probably benign Het
Map4k3 A G 17: 80,921,348 (GRCm39) V528A probably benign Het
Mmp8 T A 9: 7,563,203 (GRCm39) N255K possibly damaging Het
Npat A T 9: 53,473,521 (GRCm39) K438* probably null Het
Or4a73 T A 2: 89,421,444 (GRCm39) N5I possibly damaging Het
P4htm T C 9: 108,474,582 (GRCm39) Y61C probably damaging Het
Pgap6 T C 17: 26,340,972 (GRCm39) Y692H probably benign Het
Polr3h G T 15: 81,801,480 (GRCm39) probably null Het
Prlr C T 15: 10,322,532 (GRCm39) T176I probably benign Het
Psme4 T G 11: 30,754,294 (GRCm39) F184V possibly damaging Het
Ptgfrn A T 3: 100,967,968 (GRCm39) F542I possibly damaging Het
Rock1 T C 18: 10,116,792 (GRCm39) E448G probably damaging Het
Rpf1 A T 3: 146,225,218 (GRCm39) probably null Het
Sectm1b T C 11: 120,946,500 (GRCm39) I132V probably benign Het
Sestd1 T A 2: 77,017,503 (GRCm39) H688L probably benign Het
Sidt2 T C 9: 45,855,752 (GRCm39) Y530C probably damaging Het
Sin3a A T 9: 57,018,395 (GRCm39) K938M probably damaging Het
Sin3b C A 8: 73,476,506 (GRCm39) R647S probably benign Het
Slc16a14 T C 1: 84,889,988 (GRCm39) H439R possibly damaging Het
Stc1 T C 14: 69,269,822 (GRCm39) V134A probably benign Het
Stk11ip G A 1: 75,501,335 (GRCm39) V24I possibly damaging Het
Tbx6 G A 7: 126,384,025 (GRCm39) A359T possibly damaging Het
Thra G A 11: 98,654,514 (GRCm39) V295I possibly damaging Het
Tnr T C 1: 159,740,336 (GRCm39) M1170T probably damaging Het
Tpcn2 T A 7: 144,832,521 (GRCm39) I112F probably damaging Het
Trdv2-2 T C 14: 54,198,998 (GRCm39) L96P probably damaging Het
Trim24 T A 6: 37,935,504 (GRCm39) W832R probably damaging Het
Usp4 T G 9: 108,268,959 (GRCm39) S891A probably benign Het
Vmn1r88 A T 7: 12,912,440 (GRCm39) R265S probably benign Het
Vmn2r118 A G 17: 55,931,494 (GRCm39) L60S probably benign Het
Wdr74 T C 19: 8,717,197 (GRCm39) C220R possibly damaging Het
Xpo1 A T 11: 23,218,653 (GRCm39) probably benign Het
Xpo1 A T 11: 23,218,656 (GRCm39) probably benign Het
Zfp850 C A 7: 27,689,620 (GRCm39) G196V probably benign Het
Other mutations in D630036H23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R7427:D630036H23Rik UTSW 12 36,431,537 (GRCm39) missense unknown
R7428:D630036H23Rik UTSW 12 36,431,537 (GRCm39) missense unknown
R8767:D630036H23Rik UTSW 12 36,431,441 (GRCm39) missense unknown
R9484:D630036H23Rik UTSW 12 36,431,711 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-01-19