Incidental Mutation 'IGL02073:Vat1'
ID185913
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vat1
Ensembl Gene ENSMUSG00000034993
Gene Namevesicle amine transport 1
SynonymsVAT-1
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02073
Quality Score
Status
Chromosome11
Chromosomal Location101458745-101466230 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101460579 bp
ZygosityHeterozygous
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]
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: 157,208,402 probably benign Het
6330409D20Rik T G 2: 32,740,686 probably benign Het
Als2cl A G 9: 110,894,339 K659E probably benign Het
Bbx G A 16: 50,202,491 T702I probably damaging Het
Bcas3 A G 11: 85,557,437 D405G probably damaging Het
Brpf3 A G 17: 28,807,396 Y481C probably benign Het
Csnk1g1 T A 9: 66,002,251 Y217N probably damaging Het
Cyp4f37 G T 17: 32,627,851 V171L possibly damaging Het
Dock8 G A 19: 25,200,986 probably null Het
Extl3 C A 14: 65,076,339 G465W probably damaging Het
Fam208b T C 13: 3,574,721 D1743G probably benign Het
Fbxo10 A G 4: 45,046,349 I587T possibly damaging Het
Fstl5 A C 3: 76,659,652 probably benign Het
Gabbr2 T C 4: 46,667,547 N866S probably benign Het
Gm4871 T A 5: 145,032,578 K44* probably null Het
Hnrnpul1 T C 7: 25,722,341 probably benign Het
Jup A G 11: 100,383,389 probably benign Het
Mccc2 A T 13: 100,000,275 H57Q probably benign Het
Myo1a A T 10: 127,710,225 D239V probably damaging Het
Ncapd3 T A 9: 27,063,316 S695T probably benign Het
Ncor1 A T 11: 62,358,917 S1052T probably damaging Het
Olfr175-ps1 A G 16: 58,823,806 I301T probably benign Het
Olfr250 C T 9: 38,368,307 H244Y probably damaging Het
Olfr834 T A 9: 18,988,325 N112K possibly damaging Het
Pcnx3 A T 19: 5,679,386 I526K probably damaging Het
Pcnx4 A G 12: 72,574,328 D974G possibly damaging Het
Peg3 T C 7: 6,711,002 E407G probably damaging Het
Polk A G 13: 96,504,551 V166A probably damaging Het
Prkar2a A G 9: 108,733,123 I184V probably damaging Het
Ptpa T C 2: 30,443,350 S64P probably damaging Het
Rbsn A G 6: 92,189,359 L768P probably damaging Het
Ripk3 C T 14: 55,786,025 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sar1b T C 11: 51,789,193 probably benign Het
Slx A T X: 26,534,455 W89R probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Svep1 T C 4: 58,070,104 I2561V probably benign Het
Tm7sf3 A G 6: 146,623,710 L79P possibly damaging Het
Trub1 A T 19: 57,452,947 M1L probably benign Het
Unc80 A G 1: 66,612,227 D1577G possibly damaging Het
Vmn1r17 T C 6: 57,360,802 I193V probably benign Het
Vps13b A G 15: 35,875,586 I2706V possibly damaging Het
Wls T C 3: 159,907,253 probably null Het
Zfp955b A G 17: 33,300,590 T11A possibly damaging Het
Other mutations in Vat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Vat1 APN 11 101465715 missense probably benign 0.00
R2114:Vat1 UTSW 11 101465742 missense probably damaging 1.00
R4573:Vat1 UTSW 11 101460615 missense probably benign 0.13
R4959:Vat1 UTSW 11 101460600 missense probably damaging 1.00
R7110:Vat1 UTSW 11 101465713 missense possibly damaging 0.65
Posted On2014-05-07