Incidental Mutation 'R3545:Ramac'
ID 268165
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 # R3545 (G1)
Quality Score 89
Status Not validated
Chromosome 7
Chromosomal Location 81412701-81419238 bp(+) (GRCm39)
Type of Mutation splice site (863 bp from exon)
DNA Base Change (assembly) T to A at 81418270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042166] [ENSMUST00000118190] [ENSMUST00000133034]
AlphaFold Q9CQY2
Predicted Effect probably null
Transcript: ENSMUST00000042166
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000039065
Gene: ENSMUSG00000038646
AA Change: Y108*

DomainStartEndE-ValueType
Pfam:RAM 10 87 4.9e-28 PFAM
low complexity region 89 112 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118190
AA Change: Y108*
SMART Domains Protein: ENSMUSP00000113339
Gene: ENSMUSG00000038646
AA Change: Y108*

DomainStartEndE-ValueType
Pfam:RAM 9 89 5.1e-36 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000133034
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd28 A G 14: 31,437,217 (GRCm39) L646S probably benign Het
Clip1 A G 5: 123,769,141 (GRCm39) L532P probably damaging Het
Efl1 A T 7: 82,412,018 (GRCm39) E802D probably benign Het
F11r T C 1: 171,288,829 (GRCm39) V149A probably damaging Het
Fhit T C 14: 9,870,095 (GRCm38) T125A probably benign Het
Fmn2 A G 1: 174,330,192 (GRCm39) D194G unknown Het
Gdi1 T A X: 73,351,414 (GRCm39) F175L possibly damaging Het
Herc3 T C 6: 58,833,670 (GRCm39) S186P probably damaging Het
Hexa A G 9: 59,464,581 (GRCm39) N157S probably damaging Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Lig1 T A 7: 13,026,089 (GRCm39) N281K possibly damaging Het
Lrp1b A T 2: 40,490,300 (GRCm39) L287H probably damaging Het
Mcf2 T C X: 59,180,806 (GRCm39) K74R probably damaging Het
Nat1 A G 8: 67,943,684 (GRCm39) D23G possibly damaging Het
Nbeal1 T C 1: 60,317,939 (GRCm39) F1959L probably damaging Het
Ncf1 T A 5: 134,255,463 (GRCm39) K143* probably null Het
Nid2 T A 14: 19,813,779 (GRCm39) Y195N probably damaging Het
Nlrp9a T C 7: 26,256,757 (GRCm39) I125T probably benign Het
Nme7 T C 1: 164,213,351 (GRCm39) F343S probably damaging Het
Otud4 A G 8: 80,391,684 (GRCm39) E443G probably damaging Het
Palld G T 8: 62,003,112 (GRCm39) A329E possibly damaging Het
Pask A T 1: 93,244,837 (GRCm39) V1095D probably damaging Het
Pdzd2 C T 15: 12,375,557 (GRCm39) R1526Q probably benign Het
Prkcq A G 2: 11,288,627 (GRCm39) K527E probably benign Het
Reln A G 5: 22,432,598 (GRCm39) V134A possibly damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Septin9 T C 11: 117,243,499 (GRCm39) I350T probably damaging Het
Slc16a7 T A 10: 125,130,569 (GRCm39) K39* probably null Het
Spata32 T C 11: 103,101,570 (GRCm39) E21G possibly damaging Het
Tbc1d1 G A 5: 64,443,350 (GRCm39) R523Q probably damaging Het
Thnsl1 T G 2: 21,217,438 (GRCm39) D397E probably benign Het
Tubal3 T G 13: 3,983,560 (GRCm39) *447G probably null Het
Uprt T A X: 103,526,934 (GRCm39) L123H probably damaging Het
Usp9x T C X: 12,994,629 (GRCm39) L940P probably benign 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
R3753:Ramac UTSW 7 81,417,395 (GRCm39) missense probably damaging 1.00
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'- ACTTGTGCTGTAAAGAGCCTC -3'
(R):5'- GCACGTGTGAGCATGCTATTC -3'

Sequencing Primer
(F):5'- GCTGTAAAGAGCCTCCATTACTGTG -3'
(R):5'- GTGAGCATGCTATTCTTTCATACAGC -3'
Posted On 2015-02-19