Incidental Mutation 'R1248:Gm3476'
Institutional Source Beutler Lab
Gene Symbol Gm3476
Ensembl Gene ENSMUSG00000079371
Gene Namepredicted gene 3476
MMRRC Submission 039315-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #R1248 (G1)
Quality Score61
Status Validated
Chromosomal Location6105321-6125807 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6118512 bp
Amino Acid Change Serine to Threonine at position 204 (S204T)
Ref Sequence ENSEMBL: ENSMUSP00000126875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112742] [ENSMUST00000167913] [ENSMUST00000190582]
Predicted Effect probably benign
Transcript: ENSMUST00000112742
SMART Domains Protein: ENSMUSP00000108362
Gene: ENSMUSG00000079371

Pfam:Takusan 46 129 6e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167913
AA Change: S204T

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000126875
Gene: ENSMUSG00000079371
AA Change: S204T

Pfam:Takusan 48 128 2.4e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190582
SMART Domains Protein: ENSMUSP00000141154
Gene: ENSMUSG00000079371

Pfam:Takusan 46 129 9.5e-32 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency 98% (43/44)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A T 10: 10,395,310 F863Y probably damaging Het
Akap12 A G 10: 4,353,847 E219G probably benign Het
Akr1c20 G A 13: 4,514,400 T38I possibly damaging Het
Ap5z1 C A 5: 142,474,500 S511R probably benign Het
Arhgap11a T A 2: 113,834,102 H612L possibly damaging Het
Atp2b2 G T 6: 113,817,192 S118Y probably damaging Het
Boc A T 16: 44,520,473 M38K probably benign Het
Ccdc171 A T 4: 83,681,244 E773D possibly damaging Het
Dmtn C T 14: 70,612,658 probably benign Het
Dnah10 G A 5: 124,755,823 probably benign Het
Efcab1 A G 16: 14,924,137 M212V probably benign Het
Fam83b T C 9: 76,503,076 N184S probably benign Het
Fam98c A G 7: 29,152,840 M98T probably damaging Het
Fbn1 T C 2: 125,301,609 K2867E probably benign Het
Fsip2 A T 2: 82,989,763 E5280V possibly damaging Het
Fuom T C 7: 140,099,718 probably benign Het
Grhl3 A G 4: 135,561,306 F23L probably benign Het
Il4i1 G T 7: 44,839,789 R334L probably damaging Het
Ipo13 A G 4: 117,901,031 S712P probably damaging Het
Lama4 G T 10: 39,056,847 S573I probably damaging Het
Lrp11 A G 10: 7,604,294 H371R probably benign Het
Mkln1 T A 6: 31,489,368 I520N probably damaging Het
Nagpa G T 16: 5,198,616 C236* probably null Het
Nktr A G 9: 121,727,370 N38S probably damaging Het
Nlrp10 G A 7: 108,925,881 R131C probably benign Het
Nxpe2 T C 9: 48,319,911 D386G possibly damaging Het
Prpf39 T A 12: 65,053,966 probably benign Het
Retreg2 A G 1: 75,145,111 probably benign Het
S100a4 G T 3: 90,605,777 S60I possibly damaging Het
Slc12a3 G T 8: 94,333,277 G184C probably damaging Het
Slc25a46 C T 18: 31,609,754 D20N possibly damaging Het
Smc3 A G 19: 53,634,078 K695E probably benign Het
Speer2 A T 16: 69,857,067 probably null Het
Taar4 T G 10: 23,961,038 V182G possibly damaging Het
Ttll1 C G 15: 83,502,125 S93T probably benign Het
Ubl3 A T 5: 148,506,198 probably null Het
Vmn2r16 A G 5: 109,360,777 N457S probably benign Het
Vmn2r72 T C 7: 85,749,188 E528G probably benign Het
Zfp52 A C 17: 21,560,049 E53A probably damaging Het
Other mutations in Gm3476
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02243:Gm3476 APN 14 6122811 nonsense probably null
PIT4418001:Gm3476 UTSW 14 6118411 missense probably benign 0.09
R1917:Gm3476 UTSW 14 6118358 missense possibly damaging 0.92
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-10-20