Incidental Mutation 'R3753:Ramac'
ID 271313
Institutional Source Beutler Lab
Gene Symbol Ramac
Ensembl Gene ENSMUSG00000038646
Gene Name RNA guanine-7 methyltransferase activating subunit
Synonyms Fam103a1, Rammet, 2610204K14Rik, 2410047I02Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.078) question?
Stock # R3753 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 81412701-81419238 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 81417395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 32 (R32C)
Ref Sequence ENSEMBL: ENSMUSP00000123342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042166] [ENSMUST00000118190] [ENSMUST00000133034]
AlphaFold Q9CQY2
Predicted Effect probably benign
Transcript: ENSMUST00000042166
AA Change: R32C

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039065
Gene: ENSMUSG00000038646
AA Change: R32C

DomainStartEndE-ValueType
Pfam:RAM 10 87 4.9e-28 PFAM
low complexity region 89 112 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118190
AA Change: R32C

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000113339
Gene: ENSMUSG00000038646
AA Change: R32C

DomainStartEndE-ValueType
Pfam:RAM 9 89 5.1e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133034
AA Change: R32C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.2095 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 98% (49/50)
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,121,677 (GRCm39) I74N probably damaging Het
Acp7 T A 7: 28,316,085 (GRCm39) Y167F probably damaging Het
Acsl1 A T 8: 46,966,602 (GRCm39) probably benign Het
Bcr T C 10: 74,971,772 (GRCm39) V599A probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep152 A G 2: 125,466,972 (GRCm39) probably benign Het
Cstf2t T G 19: 31,060,695 (GRCm39) L77R probably damaging Het
Drd3 C T 16: 43,637,466 (GRCm39) R254W probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Fam187a C T 11: 102,776,675 (GRCm39) P160S probably benign Het
Fat1 G A 8: 45,478,516 (GRCm39) E2521K probably damaging Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Flii T C 11: 60,606,306 (GRCm39) D1128G probably benign Het
Gask1a A T 9: 121,794,899 (GRCm39) D351V probably damaging Het
Gata3 T A 2: 9,873,651 (GRCm39) H281L probably benign Het
Iqsec3 C T 6: 121,353,214 (GRCm39) A1135T probably benign Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nbn G A 4: 15,964,269 (GRCm39) V115I probably damaging Het
Nfyc G T 4: 120,622,527 (GRCm39) probably benign Het
Nup210 A T 6: 90,998,377 (GRCm39) probably null Het
Or2g1 T C 17: 38,107,123 (GRCm39) S263P possibly damaging Het
Or2t48 C T 11: 58,420,516 (GRCm39) A99T probably benign Het
Or8j3b C T 2: 86,205,259 (GRCm39) V166I possibly damaging Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Plce1 T C 19: 38,640,278 (GRCm39) V508A probably benign Het
Prmt2 G T 10: 76,061,137 (GRCm39) D116E probably benign Het
Prss51 T A 14: 64,333,624 (GRCm39) probably benign Het
Prune2 T A 19: 17,102,818 (GRCm39) V2659D probably benign Het
Ptpn3 C T 4: 57,270,144 (GRCm39) R6H probably damaging Het
Rdh12 C T 12: 79,260,446 (GRCm39) R181* probably null Het
Rsf1 T A 7: 97,311,359 (GRCm39) D696E probably benign Het
Sh3rf2 C T 18: 42,244,373 (GRCm39) R280C probably damaging Het
Slco6d1 T A 1: 98,427,502 (GRCm39) I611K probably damaging Het
Snph G A 2: 151,435,374 (GRCm39) P449L probably benign Het
Spg7 G C 8: 123,814,112 (GRCm39) R457P probably damaging Het
Swap70 T A 7: 109,867,088 (GRCm39) W297R probably damaging Het
Tcaf3 T A 6: 42,566,738 (GRCm39) I784F probably damaging Het
Tcstv2c A T 13: 120,616,167 (GRCm39) D2V possibly damaging Het
Tox2 T A 2: 163,156,243 (GRCm39) I138N probably damaging Het
Trim54 A C 5: 31,291,488 (GRCm39) E203A probably damaging Het
Vmn2r19 A T 6: 123,292,548 (GRCm39) T197S possibly damaging Het
Vmn2r28 T A 7: 5,491,026 (GRCm39) H407L probably damaging Het
Wdr19 G A 5: 65,382,069 (GRCm39) V430M probably damaging Het
Other mutations in Ramac
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02732:Ramac APN 7 81,417,473 (GRCm39) critical splice donor site probably null
PIT4531001:Ramac UTSW 7 81,417,327 (GRCm39) missense possibly damaging 0.62
R3545:Ramac UTSW 7 81,418,270 (GRCm39) splice site probably null
R4665:Ramac UTSW 7 81,418,178 (GRCm39) missense probably damaging 1.00
R4784:Ramac UTSW 7 81,418,163 (GRCm39) missense probably damaging 0.99
R6378:Ramac UTSW 7 81,417,387 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAGGGACTTTTGTTACTACTCC -3'
(R):5'- CACCTATTAAATGCGTACATCAGC -3'

Sequencing Primer
(F):5'- ACTACTCCATCTAAATTGTTCACTTC -3'
(R):5'- AGGCTGGCCTAGATCTCATAATC -3'
Posted On 2015-03-18