Incidental Mutation 'R1731:Gm3486'
ID 199342
Institutional Source Beutler Lab
Gene Symbol Gm3486
Ensembl Gene ENSMUSG00000090505
Gene Name predicted gene 3486
Synonyms
MMRRC Submission 039763-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.377) question?
Stock # R1731 (G1)
Quality Score 133
Status Not validated
Chromosome 14
Chromosomal Location 41206189-41211442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 41206492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 194 (M194L)
Ref Sequence ENSEMBL: ENSMUSP00000131656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169361]
AlphaFold L7N2D0
Predicted Effect probably benign
Transcript: ENSMUST00000169361
AA Change: M194L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131656
Gene: ENSMUSG00000090505
AA Change: M194L

DomainStartEndE-ValueType
Pfam:Takusan 25 103 1.8e-20 PFAM
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,762,805 (GRCm39) Y140F probably damaging Het
Adgrl4 T G 3: 151,246,623 (GRCm39) I641S possibly damaging Het
Aqp9 A G 9: 71,030,250 (GRCm39) I205T possibly damaging Het
Arap3 C T 18: 38,122,965 (GRCm39) V512I probably benign Het
Atf2 C T 2: 73,675,853 (GRCm39) G123E probably damaging Het
Baz1a T C 12: 54,965,330 (GRCm39) D708G possibly damaging Het
Calcrl A G 2: 84,175,512 (GRCm39) probably null Het
Capzb T A 4: 139,007,341 (GRCm39) W110R probably damaging Het
Casp8ap2 A T 4: 32,641,442 (GRCm39) N832I possibly damaging Het
Cecr2 T A 6: 120,735,141 (GRCm39) H764Q possibly damaging Het
Cep131 T C 11: 119,967,742 (GRCm39) probably null Het
Ces2e T C 8: 105,656,208 (GRCm39) V173A probably damaging Het
Clstn3 T C 6: 124,408,591 (GRCm39) D944G probably benign Het
Cyb5rl C A 4: 106,938,110 (GRCm39) A189E probably damaging Het
Cyp2c40 A G 19: 39,801,133 (GRCm39) S41P probably damaging Het
Dscam A G 16: 96,621,076 (GRCm39) L544P probably damaging Het
Epha2 A G 4: 141,049,063 (GRCm39) K640E possibly damaging Het
Erap1 T A 13: 74,814,241 (GRCm39) C8* probably null Het
Fat3 A G 9: 15,907,233 (GRCm39) V2923A probably benign Het
Fat4 A T 3: 38,945,459 (GRCm39) I1451F probably damaging Het
Fcsk A T 8: 111,621,455 (GRCm39) I163N probably damaging Het
Fzd6 G A 15: 38,894,722 (GRCm39) G296D probably damaging Het
Gm5592 C T 7: 40,937,837 (GRCm39) A373V probably damaging Het
Hectd3 T A 4: 116,853,652 (GRCm39) probably null Het
Hira T A 16: 18,751,764 (GRCm39) V521E probably benign Het
Hsd17b6 A G 10: 127,830,348 (GRCm39) L141S possibly damaging Het
Idua A G 5: 108,829,538 (GRCm39) D467G probably benign Het
Ikzf4 G A 10: 128,470,401 (GRCm39) P373L probably benign Het
Kcng1 T C 2: 168,110,609 (GRCm39) E185G probably benign Het
Krt84 G A 15: 101,434,398 (GRCm39) S523F possibly damaging Het
Lpcat4 T C 2: 112,074,188 (GRCm39) L250P probably damaging Het
Lrrc49 A G 9: 60,528,914 (GRCm39) Y281H probably damaging Het
Mta2 C A 19: 8,925,088 (GRCm39) probably null Het
Myo15b T C 11: 115,782,386 (GRCm39) I372T possibly damaging Het
Myocd T A 11: 65,091,714 (GRCm39) N76I probably benign Het
Nav2 T A 7: 49,197,922 (GRCm39) Y1123N probably damaging Het
Otogl A T 10: 107,652,972 (GRCm39) C1127S probably damaging Het
Pcdhb8 A G 18: 37,488,891 (GRCm39) K190E probably damaging Het
Pcnx1 A G 12: 82,037,478 (GRCm39) H1918R probably damaging Het
Pde2a T A 7: 101,150,867 (GRCm39) Y272N probably damaging Het
Phldb3 T C 7: 24,318,660 (GRCm39) V313A probably benign Het
Plch2 C T 4: 155,091,451 (GRCm39) V116I possibly damaging Het
Plod2 G A 9: 92,466,657 (GRCm39) probably null Het
Ppfibp2 T C 7: 107,339,796 (GRCm39) Y730H probably damaging Het
Ptprh T C 7: 4,604,912 (GRCm39) E44G probably benign Het
Rab11fip1 T C 8: 27,642,438 (GRCm39) E787G probably damaging Het
Rabep2 T A 7: 126,043,444 (GRCm39) L448Q probably damaging Het
Rbfox3 A G 11: 118,387,762 (GRCm39) probably null Het
Rgma T C 7: 73,059,160 (GRCm39) V88A probably damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnf125 A G 18: 21,110,873 (GRCm39) T44A probably benign Het
Rusc2 G T 4: 43,426,046 (GRCm39) A1384S probably benign Het
Selp T A 1: 163,969,009 (GRCm39) C536* probably null Het
Serpinb3c G A 1: 107,199,504 (GRCm39) T339I probably damaging Het
Slc4a5 C T 6: 83,273,617 (GRCm39) R986C probably damaging Het
Slc8b1 T C 5: 120,659,180 (GRCm39) I208T probably benign Het
Sp3 G A 2: 72,776,999 (GRCm39) H533Y probably damaging Het
Speer1e T A 5: 11,233,080 (GRCm39) N14K probably damaging Het
Tiam2 A G 17: 3,568,698 (GRCm39) R1615G probably damaging Het
Tie1 T C 4: 118,333,460 (GRCm39) E802G probably damaging Het
Tinagl1 A G 4: 130,061,842 (GRCm39) V164A probably benign Het
Vmn1r68 A G 7: 10,261,802 (GRCm39) Y99H probably damaging Het
Vmn1r87 T A 7: 12,865,703 (GRCm39) T195S possibly damaging Het
Vmn2r56 T C 7: 12,466,972 (GRCm39) T21A probably benign Het
Zfp108 C A 7: 23,957,964 (GRCm39) H34Q possibly damaging Het
Zfp267 T A 3: 36,218,620 (GRCm39) F214L probably benign Het
Zfp456 C T 13: 67,514,674 (GRCm39) S344N probably benign Het
Zscan22 T C 7: 12,640,907 (GRCm39) C384R probably damaging Het
Other mutations in Gm3486
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0227:Gm3486 UTSW 14 41,206,518 (GRCm39) missense probably benign 0.23
R4157:Gm3486 UTSW 14 41,208,343 (GRCm39) missense probably benign 0.24
R6248:Gm3486 UTSW 14 41,206,472 (GRCm39) makesense probably null
R6397:Gm3486 UTSW 14 41,208,343 (GRCm39) missense probably benign 0.24
R6858:Gm3486 UTSW 14 41,210,322 (GRCm39) missense probably damaging 0.98
R6945:Gm3486 UTSW 14 41,206,518 (GRCm39) missense probably benign 0.03
R8470:Gm3486 UTSW 14 41,206,538 (GRCm39) critical splice acceptor site probably null
R8554:Gm3486 UTSW 14 41,209,119 (GRCm39) missense probably damaging 1.00
R9283:Gm3486 UTSW 14 41,210,268 (GRCm39) missense possibly damaging 0.80
R9352:Gm3486 UTSW 14 41,208,318 (GRCm39) missense possibly damaging 0.66
Predicted Primers PCR Primer
(F):5'- AGACATTCCCCTTAGATTCACATAAAGTCCA -3'
(R):5'- AGTACAGGCCAGGGCAGCA -3'

Sequencing Primer
(F):5'- AAGCCTTAGCCAGCGTTT -3'
(R):5'- gtgtgtactcatgtaccctttttg -3'
Posted On 2014-05-23