Incidental Mutation 'R1632:Slc32a1'
Institutional Source Beutler Lab
Gene Symbol Slc32a1
Ensembl Gene ENSMUSG00000037771
Gene Namesolute carrier family 32 (GABA vesicular transporter), member 1
SynonymsViaat, R75019, VGAT
MMRRC Submission 039669-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1632 (G1)
Quality Score165
Status Not validated
Chromosomal Location158610767-158615748 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 158613890 bp
Amino Acid Change Alanine to Valine at position 155 (A155V)
Ref Sequence ENSEMBL: ENSMUSP00000036299 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045738]
Predicted Effect possibly damaging
Transcript: ENSMUST00000045738
AA Change: A155V

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: A155V

Pfam:Aa_trans 114 513 9.4e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123016
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155319
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein involved in gamma-aminobutyric acid (GABA) and glycine uptake into synaptic vesicles. The encoded protein is a member of amino acid/polyamine transporter family II. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice been independently reported to die perinatally exhibiting a hunched posture, respiratory failure, cleft secondary palate due to failure of palate shelf elevation, umbilical hernia or omphalocele, and loss of neurotransmitter release in both GABAergic and glycinergic neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810046K07Rik T C 9: 51,290,402 D118G probably damaging Het
AF529169 T A 9: 89,602,360 H328L probably damaging Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Arhgap28 A T 17: 67,849,074 Y696N probably damaging Het
C77080 A G 4: 129,222,666 M735T possibly damaging Het
Cachd1 A G 4: 100,966,972 T537A probably benign Het
Capn15 A T 17: 25,960,665 F841Y probably damaging Het
Card10 G A 15: 78,791,220 R396* probably null Het
Chd9 A T 8: 90,956,707 K592* probably null Het
Cyp2j8 T A 4: 96,447,324 H411L probably benign Het
Dhcr24 G T 4: 106,585,951 M394I probably benign Het
Dhrs3 T C 4: 144,893,546 V11A probably benign Het
Dync1li2 A T 8: 104,437,491 I134N probably damaging Het
Enpp4 G T 17: 44,099,653 S344Y probably damaging Het
Ephb3 T C 16: 21,212,937 S14P probably benign Het
Fancm T G 12: 65,130,331 I1983S probably damaging Het
Fndc1 T C 17: 7,773,200 T555A unknown Het
Gemin4 A T 11: 76,210,989 M982K probably benign Het
Gtpbp2 A G 17: 46,168,592 R590G probably benign Het
H2-M3 G A 17: 37,271,163 R170H probably benign Het
Hoxa13 G T 6: 52,259,937 N278K probably damaging Het
Hspb3 A G 13: 113,663,053 V147A probably benign Het
Il6st G T 13: 112,504,332 D820Y possibly damaging Het
Kdm7a A G 6: 39,152,898 V448A probably benign Het
Kmt2b T C 7: 30,583,962 D991G probably damaging Het
Kri1 T C 9: 21,282,211 D140G possibly damaging Het
Limk2 A G 11: 3,346,250 L399P probably damaging Het
Lrrc9 T A 12: 72,460,020 probably null Het
Map2 C T 1: 66,415,086 T1045M possibly damaging Het
Map4k5 T C 12: 69,828,047 I321V probably benign Het
Mpp5 T A 12: 78,797,038 Y5* probably null Het
Mslnl G A 17: 25,742,934 V128M probably damaging Het
Myh7b A G 2: 155,620,525 S383G probably benign Het
Nostrin A G 2: 69,175,734 K254R probably benign Het
Nphp1 G T 2: 127,770,392 P212T probably benign Het
Olfr988 A T 2: 85,353,242 M228K possibly damaging Het
Pclo A C 5: 14,680,003 probably benign Het
Phf19 G A 2: 34,911,619 R60W probably damaging Het
Psg18 G A 7: 18,350,899 P91S probably benign Het
Rttn C T 18: 89,009,336 T525I probably benign Het
Ryr1 T C 7: 29,094,261 M1268V probably benign Het
Slc25a2 T C 18: 37,637,687 E263G possibly damaging Het
Slc6a19 A T 13: 73,689,908 probably null Het
Socs4 A G 14: 47,289,577 probably benign Het
Tas2r118 A G 6: 23,969,261 I267T probably benign Het
Tpte G A 8: 22,349,347 C470Y probably damaging Het
Usp17la A T 7: 104,860,911 H241L probably benign Het
Vmn2r72 T A 7: 85,751,792 I140F probably benign Het
Zfp329 T C 7: 12,810,949 D216G possibly damaging Het
Other mutations in Slc32a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0993:Slc32a1 UTSW 2 158611420 missense possibly damaging 0.57
R1368:Slc32a1 UTSW 2 158611320 missense probably benign
R1519:Slc32a1 UTSW 2 158614577 missense probably damaging 0.97
R1653:Slc32a1 UTSW 2 158614889 missense probably benign 0.18
R1822:Slc32a1 UTSW 2 158611378 missense probably benign
R1957:Slc32a1 UTSW 2 158614043 missense probably damaging 1.00
R3811:Slc32a1 UTSW 2 158614736 missense possibly damaging 0.68
R3914:Slc32a1 UTSW 2 158611232 start gained probably benign
R3949:Slc32a1 UTSW 2 158611232 start gained probably benign
R4021:Slc32a1 UTSW 2 158611232 start gained probably benign
R4850:Slc32a1 UTSW 2 158614192 missense possibly damaging 0.92
R4953:Slc32a1 UTSW 2 158614057 missense possibly damaging 0.76
R5292:Slc32a1 UTSW 2 158611387 missense probably damaging 0.98
R5510:Slc32a1 UTSW 2 158614796 missense probably damaging 1.00
R6431:Slc32a1 UTSW 2 158611537 missense probably benign 0.06
R7072:Slc32a1 UTSW 2 158611496 nonsense probably null
R7170:Slc32a1 UTSW 2 158611323 missense probably damaging 0.97
R7350:Slc32a1 UTSW 2 158614406 missense probably damaging 1.00
R8073:Slc32a1 UTSW 2 158614765 missense probably damaging 1.00
X0067:Slc32a1 UTSW 2 158613947 missense possibly damaging 0.93
Predicted Primers PCR Primer

Sequencing Primer
Posted On2014-04-24