Incidental Mutation 'IGL02073:Vat1'
ID 185913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vat1
Ensembl Gene ENSMUSG00000034993
Gene Name vesicle amine transport 1
Synonyms VAT-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.170) question?
Stock # IGL02073
Quality Score
Status
Chromosome 11
Chromosomal Location 101349574-101357025 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 101351405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 312 (M312K)
Ref Sequence ENSEMBL: ENSMUSP00000048350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010502] [ENSMUST00000040430] [ENSMUST00000131024]
AlphaFold Q62465
Predicted Effect probably benign
Transcript: ENSMUST00000010502
SMART Domains Protein: ENSMUSP00000010502
Gene: ENSMUSG00000010358

DomainStartEndE-ValueType
Pfam:IFP_35_N 8 80 9.1e-21 PFAM
Pfam:NID 81 170 1.5e-31 PFAM
Pfam:NID 179 266 1.6e-29 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000040430
AA Change: M312K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048350
Gene: ENSMUSG00000034993
AA Change: M312K

DomainStartEndE-ValueType
low complexity region 3 31 N/A INTRINSIC
low complexity region 41 60 N/A INTRINSIC
Pfam:ADH_N 89 157 8.8e-11 PFAM
Pfam:ADH_zinc_N 213 355 2.1e-21 PFAM
Pfam:ADH_zinc_N_2 245 398 6.9e-22 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125958
Predicted Effect probably benign
Transcript: ENSMUST00000131024
SMART Domains Protein: ENSMUSP00000117189
Gene: ENSMUSG00000010358

DomainStartEndE-ValueType
Pfam:IFP_35_N 8 45 2.7e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142107
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153185
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptic vesicles are responsible for regulating the storage and release of neurotransmitters in the nerve terminal. The protein encoded by this gene is an abundant integral membrane protein of cholinergic synaptic vesicles and is thought to be involved in vesicular transport. It belongs to the quinone oxidoreductase subfamily of zinc-containing alcohol dehydrogenase proteins. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930566N20Rik C A 3: 156,914,039 (GRCm39) probably benign Het
6330409D20Rik T G 2: 32,630,698 (GRCm39) probably benign Het
Als2cl A G 9: 110,723,407 (GRCm39) K659E probably benign Het
Bbx G A 16: 50,022,854 (GRCm39) T702I probably damaging Het
Bcas3 A G 11: 85,448,263 (GRCm39) D405G probably damaging Het
Brpf3 A G 17: 29,026,370 (GRCm39) Y481C probably benign Het
Csnk1g1 T A 9: 65,909,533 (GRCm39) Y217N probably damaging Het
Cyp4f37 G T 17: 32,846,825 (GRCm39) V171L possibly damaging Het
Dock8 G A 19: 25,178,350 (GRCm39) probably null Het
Extl3 C A 14: 65,313,788 (GRCm39) G465W probably damaging Het
Fbxo10 A G 4: 45,046,349 (GRCm39) I587T possibly damaging Het
Fstl5 A C 3: 76,566,959 (GRCm39) probably benign Het
Gabbr2 T C 4: 46,667,547 (GRCm39) N866S probably benign Het
Gm4871 T A 5: 144,969,388 (GRCm39) K44* probably null Het
Hnrnpul1 T C 7: 25,421,766 (GRCm39) probably benign Het
Jup A G 11: 100,274,215 (GRCm39) probably benign Het
Mccc2 A T 13: 100,136,783 (GRCm39) H57Q probably benign Het
Myo1a A T 10: 127,546,094 (GRCm39) D239V probably damaging Het
Ncapd3 T A 9: 26,974,612 (GRCm39) S695T probably benign Het
Ncor1 A T 11: 62,249,743 (GRCm39) S1052T probably damaging Het
Or5k8 A G 16: 58,644,169 (GRCm39) I301T probably benign Het
Or7g12 T A 9: 18,899,621 (GRCm39) N112K possibly damaging Het
Or8c10 C T 9: 38,279,603 (GRCm39) H244Y probably damaging Het
Pcnx3 A T 19: 5,729,414 (GRCm39) I526K probably damaging Het
Pcnx4 A G 12: 72,621,102 (GRCm39) D974G possibly damaging Het
Peg3 T C 7: 6,714,001 (GRCm39) E407G probably damaging Het
Polk A G 13: 96,641,059 (GRCm39) V166A probably damaging Het
Prkar2a A G 9: 108,610,322 (GRCm39) I184V probably damaging Het
Ptpra T C 2: 30,333,362 (GRCm39) S64P probably damaging Het
Rbsn A G 6: 92,166,340 (GRCm39) L768P probably damaging Het
Ripk3 C T 14: 56,023,482 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sar1b T C 11: 51,680,020 (GRCm39) probably benign Het
Slx A T X: 26,489,755 (GRCm39) W89R probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T C 4: 58,070,104 (GRCm39) I2561V probably benign Het
Tasor2 T C 13: 3,624,721 (GRCm39) D1743G probably benign Het
Tm7sf3 A G 6: 146,525,208 (GRCm39) L79P possibly damaging Het
Trub1 A T 19: 57,441,379 (GRCm39) M1L probably benign Het
Unc80 A G 1: 66,651,386 (GRCm39) D1577G possibly damaging Het
Vmn1r17 T C 6: 57,337,787 (GRCm39) I193V probably benign Het
Vps13b A G 15: 35,875,732 (GRCm39) I2706V possibly damaging Het
Wls T C 3: 159,612,890 (GRCm39) probably null Het
Zfp955b A G 17: 33,519,564 (GRCm39) T11A possibly damaging Het
Other mutations in Vat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Vat1 APN 11 101,356,541 (GRCm39) missense probably benign 0.00
R2114:Vat1 UTSW 11 101,356,568 (GRCm39) missense probably damaging 1.00
R4573:Vat1 UTSW 11 101,351,441 (GRCm39) missense probably benign 0.13
R4959:Vat1 UTSW 11 101,351,426 (GRCm39) missense probably damaging 1.00
R7110:Vat1 UTSW 11 101,356,539 (GRCm39) missense possibly damaging 0.65
R7974:Vat1 UTSW 11 101,356,956 (GRCm39) missense probably benign 0.23
R8125:Vat1 UTSW 11 101,351,029 (GRCm39) missense probably benign 0.13
R8979:Vat1 UTSW 11 101,353,041 (GRCm39) missense probably damaging 1.00
R9248:Vat1 UTSW 11 101,351,380 (GRCm39) missense possibly damaging 0.85
R9354:Vat1 UTSW 11 101,351,441 (GRCm39) missense probably benign 0.26
R9461:Vat1 UTSW 11 101,353,846 (GRCm39) missense possibly damaging 0.62
Posted On 2014-05-07