Incidental Mutation 'R6065:Gm3453'
ID 484017
Institutional Source Beutler Lab
Gene Symbol Gm3453
Ensembl Gene ENSMUSG00000090643
Gene Name predicted gene 3453
Synonyms
MMRRC Submission 044229-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6065 (G1)
Quality Score 167.009
Status Not validated
Chromosome 14
Chromosomal Location 16490636-16499029 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 5978233 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 57 (T57A)
Ref Sequence ENSEMBL: ENSMUSP00000131479 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170686] [ENSMUST00000178308]
AlphaFold K7N724
Predicted Effect probably damaging
Transcript: ENSMUST00000170686
AA Change: T57A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000131479
Gene: ENSMUSG00000090643
AA Change: T57A

DomainStartEndE-ValueType
Pfam:Takusan 46 129 9.8e-32 PFAM
transmembrane domain 240 262 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178308
AA Change: T57A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137254
Gene: ENSMUSG00000090643
AA Change: T57A

DomainStartEndE-ValueType
Pfam:Takusan 46 129 5.7e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 T C 5: 103,990,118 (GRCm39) S871P probably damaging Het
Ccdc150 T C 1: 54,302,758 (GRCm39) I126T possibly damaging Het
Ccdc87 A T 19: 4,891,268 (GRCm39) M587L probably benign Het
Cd300ld2 G A 11: 114,903,428 (GRCm39) probably benign Het
Chsy3 GT G 18: 59,309,238 (GRCm39) 163 probably null Het
Dchs1 T C 7: 105,404,628 (GRCm39) D2638G probably damaging Het
Dnah5 A T 15: 28,230,614 (GRCm39) I171F possibly damaging Het
Dnah9 T C 11: 65,746,164 (GRCm39) D3983G probably benign Het
Dnah9 A G 11: 66,036,223 (GRCm39) S396P possibly damaging Het
Fbxw15 T A 9: 109,397,246 (GRCm39) D18V probably damaging Het
Fcnb A C 2: 27,969,922 (GRCm39) C106G probably damaging Het
Firrm A T 1: 163,786,957 (GRCm39) L704Q probably benign Het
Firrm A G 1: 163,815,257 (GRCm39) M88T probably damaging Het
Grin2a T C 16: 9,579,771 (GRCm39) D164G possibly damaging Het
Hmcn1 C T 1: 150,646,081 (GRCm39) V706I probably benign Het
Kcnj12 C T 11: 60,960,703 (GRCm39) L334F probably damaging Het
Lama3 T C 18: 12,602,985 (GRCm39) Y1057H possibly damaging Het
Mycbpap T C 11: 94,399,013 (GRCm39) probably null Het
Myo18b A G 5: 112,840,647 (GRCm39) L2382P probably benign Het
Ngef T A 1: 87,405,370 (GRCm39) N680I probably damaging Het
Nop2 A G 6: 125,121,528 (GRCm39) H770R probably benign Het
Pcdhgc3 A G 18: 37,940,729 (GRCm39) T377A possibly damaging Het
Prl7b1 T C 13: 27,788,529 (GRCm39) K109E probably benign Het
Ptprk C T 10: 28,351,166 (GRCm39) T553I probably damaging Het
Rab3d T C 9: 21,821,815 (GRCm39) T209A probably benign Het
Ralgapa1 A G 12: 55,804,709 (GRCm39) probably null Het
Rspry1 T C 8: 95,349,615 (GRCm39) M1T probably null Het
Sec13 G T 6: 113,707,793 (GRCm39) P176T probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc4a7 C A 14: 14,739,836 (GRCm38) T236K probably benign Het
Svil T G 18: 5,106,724 (GRCm39) V1855G probably damaging Het
Syt2 A G 1: 134,675,295 (GRCm39) N382S probably benign Het
Tm7sf2 A G 19: 6,113,416 (GRCm39) M345T possibly damaging Het
Ubr4 T G 4: 139,148,549 (GRCm39) C1678G probably damaging Het
Urb1 A G 16: 90,600,220 (GRCm39) S188P probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Wdr19 A G 5: 65,379,056 (GRCm39) N233S probably benign Het
Other mutations in Gm3453
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02951:Gm3453 APN 14 5,976,168 (GRCm38) missense possibly damaging 0.63
R5575:Gm3453 UTSW 14 5,978,205 (GRCm38) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GGGAGATGACATACTCCATTCATG -3'
(R):5'- AGCTTAGCAAACCAGCTGG -3'
Posted On 2017-07-14