Incidental Mutation 'R6281:Gm3512'
ID 507972
Institutional Source Beutler Lab
Gene Symbol Gm3512
Ensembl Gene ENSMUSG00000090363
Gene Name predicted gene 3512
Synonyms
MMRRC Submission 044451-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6281 (G1)
Quality Score 101.008
Status Not validated
Chromosome 14
Chromosomal Location 15295240-15316262 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 7159254 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 7 (D7V)
Ref Sequence ENSEMBL: ENSMUSP00000088159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090663] [ENSMUST00000172431]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000090663
AA Change: D7V

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000088159
Gene: ENSMUSG00000090363
AA Change: D7V

DomainStartEndE-ValueType
Pfam:Takusan 1 48 9.1e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172431
AA Change: D16V

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000127813
Gene: ENSMUSG00000090363
AA Change: D16V

DomainStartEndE-ValueType
Pfam:Takusan 1 57 2.2e-21 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (40/40)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 122,258,620 (GRCm39) C166F probably damaging Het
Aida C T 1: 183,103,145 (GRCm39) A237V probably damaging Het
Ankib1 T C 5: 3,751,965 (GRCm39) T692A possibly damaging Het
As3mt T C 19: 46,713,362 (GRCm39) V303A possibly damaging Het
Bhlhe40 T A 6: 108,641,423 (GRCm39) probably null Het
Bhmt2 G A 13: 93,799,668 (GRCm39) P256L probably damaging Het
Bpifb1 T C 2: 154,048,385 (GRCm39) I140T probably damaging Het
Cat A T 2: 103,302,114 (GRCm39) H194Q probably damaging Het
Cbfa2t3 C A 8: 123,360,148 (GRCm39) R466L probably damaging Het
Fancm T C 12: 65,135,044 (GRCm39) V279A probably damaging Het
Gabra2 T C 5: 71,192,105 (GRCm39) T75A probably damaging Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Gpr15 A G 16: 58,538,957 (GRCm39) F44S probably damaging Het
Ighv1-72 C A 12: 115,722,023 (GRCm39) C5F probably benign Het
Lilra6 A G 7: 3,914,972 (GRCm39) L474P probably damaging Het
Mboat2 T C 12: 25,007,678 (GRCm39) V297A probably benign Het
Muc2 C G 7: 141,306,140 (GRCm39) C276W probably damaging Het
Ncor1 T C 11: 62,264,371 (GRCm39) S141G possibly damaging Het
Or4k77 T C 2: 111,199,894 (GRCm39) *306R probably null Het
Or5p80 T G 7: 108,229,609 (GRCm39) S137A probably benign Het
Pax5 T G 4: 44,691,955 (GRCm39) E97A probably benign Het
Pcdhga11 A T 18: 37,890,426 (GRCm39) D478V probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Phf21b G T 15: 84,738,946 (GRCm39) D38E probably benign Het
Ptcd1 T C 5: 145,101,881 (GRCm39) K146R probably benign Het
Rad23a A T 8: 85,564,739 (GRCm39) M166K probably damaging Het
Rfc4 A T 16: 22,936,816 (GRCm39) probably null Het
Slc17a3 T A 13: 24,040,782 (GRCm39) I336N probably benign Het
Slc2a12 T A 10: 22,541,219 (GRCm39) M358K probably damaging Het
Stk31 T G 6: 49,446,114 (GRCm39) M939R possibly damaging Het
Tecrl T A 5: 83,442,453 (GRCm39) T167S probably damaging Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Ttn C T 2: 76,772,172 (GRCm39) V2577M probably damaging Het
Uox C T 3: 146,330,332 (GRCm39) R163* probably null Het
Vezt G A 10: 93,809,808 (GRCm39) R578C probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vwa3b T A 1: 37,163,063 (GRCm39) L562Q probably damaging Het
Zfyve27 T A 19: 42,171,194 (GRCm39) N127K probably damaging Het
Znfx1 A G 2: 166,897,805 (GRCm39) F373S probably damaging Het
Zswim8 G A 14: 20,764,708 (GRCm39) V693I probably benign Het
Predicted Primers PCR Primer
(F):5'- AGCAGGTCCTTCTAGCTGTTTAC -3'
(R):5'- GGGCCATCAAGTATGCAAATTC -3'

Sequencing Primer
(F):5'- CTGTTTACAGCAACAATCAGAATGC -3'
(R):5'- CCATCAAGTATGCAAATTCATTTGTG -3'
Posted On 2018-03-15