Incidental Mutation 'R8767:D630036H23Rik'
ID 667928
Institutional Source Beutler Lab
Gene Symbol D630036H23Rik
Ensembl Gene ENSMUSG00000091007
Gene Name RIKEN cDNA D630036H23 gene
MMRRC Submission 068601-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R8767 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 36431241-36432180 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36431441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 186 (S186P)
Ref Sequence ENSEMBL: ENSMUSP00000131751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000062041] [ENSMUST00000171007] [ENSMUST00000220519] [ENSMUST00000221177] [ENSMUST00000221452] [ENSMUST00000221895] [ENSMUST00000223068] [ENSMUST00000223205]
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: S186P
SMART Domains Protein: ENSMUSP00000131751
Gene: ENSMUSG00000091007
AA Change: S186P

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: ENSMUST00000223068
Predicted Effect probably benign
Transcript: ENSMUST00000223205
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (36/36)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd31 A G 13: 96,969,224 (GRCm39) T954A probably damaging Het
Arhgap24 A T 5: 103,039,740 (GRCm39) M319L probably benign Het
Aste1 A G 9: 105,274,098 (GRCm39) N113D possibly damaging Het
Ccnh C T 13: 85,356,959 (GRCm39) Q275* probably null Het
Cfi G A 3: 129,644,497 (GRCm39) probably null Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Crybg3 T A 16: 59,376,500 (GRCm39) M1585L probably benign Het
Dnhd1 T C 7: 105,301,330 (GRCm39) L229P probably damaging Het
Dtymk A T 1: 93,728,635 (GRCm39) probably benign Het
Eif4g3 T A 4: 137,930,779 (GRCm39) I1511K probably damaging Het
Entrep3 T G 3: 89,091,725 (GRCm39) probably benign Het
Fastkd2 A G 1: 63,775,080 (GRCm39) D342G probably benign Het
Hcar1 A G 5: 124,017,113 (GRCm39) F193L probably damaging Het
Hivep2 T G 10: 14,004,992 (GRCm39) L530R probably damaging Het
Ilrun T C 17: 27,987,043 (GRCm39) T228A probably benign Het
Lats2 G A 14: 57,931,781 (GRCm39) T879M probably damaging Het
Lin54 G A 5: 100,600,884 (GRCm39) T503I probably benign Het
Mmp16 T G 4: 18,051,714 (GRCm39) probably benign Het
Muc6 A G 7: 141,229,549 (GRCm39) Y1186H probably damaging Het
Nr3c1 A G 18: 39,619,387 (GRCm39) F300S probably damaging Het
Or2y1g A G 11: 49,171,227 (GRCm39) N84S possibly damaging Het
Or7g21 A C 9: 19,032,922 (GRCm39) I221L possibly damaging Het
Pcdha4 T C 18: 37,086,905 (GRCm39) S363P possibly damaging Het
Ptdss1 C T 13: 67,101,608 (GRCm39) A99V probably benign Het
Ptprz1 T A 6: 22,986,187 (GRCm39) L329Q probably damaging Het
Rnf115 T C 3: 96,695,907 (GRCm39) V231A probably damaging Het
Sh3pxd2a A G 19: 47,257,345 (GRCm39) Y486H probably damaging Het
Shh T A 5: 28,671,487 (GRCm39) N92I possibly damaging Het
Slc13a4 T A 6: 35,245,783 (GRCm39) I621F probably benign Het
Srrm1 T C 4: 135,059,532 (GRCm39) T438A unknown Het
Synj1 A C 16: 90,758,406 (GRCm39) F813V probably damaging Het
Tnrc6a A G 7: 122,783,133 (GRCm39) probably benign Het
Trir T A 8: 85,753,690 (GRCm39) F55I probably damaging Het
Tsr1 A G 11: 74,799,149 (GRCm39) T777A probably damaging Het
Vmn2r5 G A 3: 64,415,103 (GRCm39) R86C possibly damaging Het
Other mutations in D630036H23Rik
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5927:D630036H23Rik UTSW 12 36,431,671 (GRCm39) unclassified probably benign
R7427:D630036H23Rik UTSW 12 36,431,537 (GRCm39) missense unknown
R7428:D630036H23Rik UTSW 12 36,431,537 (GRCm39) missense unknown
R9484:D630036H23Rik UTSW 12 36,431,711 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2021-03-08