Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Slc32a1'

313215

Institutional Source

Beutler Lab

Gene Symbol

Slc32a1

Ensembl Gene

ENSMUSG00000037771

Gene Name

solute carrier family 32 (GABA vesicular transporter), member 1

Synonyms

Viaat, R75019, VGAT

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4021 (G1)

Quality Score

117

Status

Validated

Chromosome

Chromosomal Location

158610767-158615748 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 158611232 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036299 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045738]

AlphaFold

O35633

Predicted Effect

probably benign
Transcript: ENSMUST00000045738

SMART Domains

Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,088	L102P	probably benign	Het
Adcy4	C	T	14: 55,775,178		probably null	Het
Adgrf5	A	T	17: 43,430,714		probably benign	Het
Atp11a	A	G	8: 12,842,938	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,514,058	T428M	probably damaging	Het
Cdh22	T	C	2: 165,143,673	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,574,238		probably null	Het
Csnk2a1	C	T	2: 152,258,689	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,035,434		probably null	Het
Ddias	G	T	7: 92,861,478	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,869,446	D238G	probably damaging	Het
Dock7	T	C	4: 99,003,920		probably null	Het
Dock9	T	C	14: 121,626,912	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,691,158	R50Q	probably benign	Het
Fam107b	G	A	2: 3,778,474	R238Q	probably damaging	Het
Fam186a	G	C	15: 99,941,799	T2188S	possibly damaging	Het
Farsa	A	G	8: 84,868,870	T465A	probably damaging	Het
Fibp	T	C	19: 5,460,734		probably null	Het
Flywch2	G	A	17: 23,777,039	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,410,530	D49V	probably damaging	Het
Fstl5	A	G	3: 76,628,975	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435	T158I	probably damaging	Het
Gbp4	T	A	5: 105,120,923	R455W	probably damaging	Het
Gm11492	A	G	11: 87,567,280	E160G	probably damaging	Het
Got2	T	G	8: 95,877,753	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,664	M186V	probably benign	Het
Haus2	A	T	2: 120,615,930	Q111L	probably damaging	Het
Hexdc	T	C	11: 121,218,161		probably null	Het
Igf2r	T	A	17: 12,748,751	N27I	probably damaging	Het
Itgax	T	A	7: 128,133,139		probably null	Het
Krit1	T	A	5: 3,832,132	I596K	probably benign	Het
Lair1	A	G	7: 4,055,916		probably null	Het
Lilra6	G	T	7: 3,911,418	T276K	probably benign	Het
Mast4	G	A	13: 102,739,321	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,447,123	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,925,100	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,955,678	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,152,157	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,873,505	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,325,012	F681L	probably benign	Het
Olfr1157	T	A	2: 87,962,722	T57S	possibly damaging	Het
Olfr703	T	A	7: 106,845,019	M136K	probably damaging	Het
Pear1	T	C	3: 87,756,222	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Rnf17	C	T	14: 56,460,001	H451Y	probably damaging	Het
Sag	A	T	1: 87,821,305		probably null	Het
Slc22a2	T	C	17: 12,584,489	L70P	probably damaging	Het
Spag17	A	T	3: 100,049,230	I881F	probably benign	Het
Taar7a	G	T	10: 23,993,386	N32K	probably benign	Het
Tbck	C	A	3: 132,727,134	T435K	probably damaging	Het
Tril	T	G	6: 53,819,019	D406A	probably damaging	Het
Tshz2	G	A	2: 169,885,862	D324N	probably damaging	Het
Vps13d	A	G	4: 145,075,061	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,575,206	W493R	probably damaging	Het
Wdr72	G	A	9: 74,151,593	V323I	probably benign	Het
Zfp488	T	A	14: 33,971,153	M18L	probably benign	Het
Zic4	A	G	9: 91,379,036	T108A	probably benign	Het
Znrf3	T	C	11: 5,281,278	D745G	possibly damaging	Het

Other mutations in Slc32a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R1632:Slc32a1	UTSW	2	158613890	missense	possibly damaging	0.89
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
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
R8194:Slc32a1	UTSW	2	158613841	missense	probably damaging	1.00
R8827:Slc32a1	UTSW	2	158611354	missense	probably damaging	0.96
R9374:Slc32a1	UTSW	2	158614075	missense	probably damaging	1.00
R9449:Slc32a1	UTSW	2	158614321	missense	probably benign	0.14
X0067:Slc32a1	UTSW	2	158613947	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AAGAGCCAGACTGTCGTGAC -3'
(R):5'- CGCTGATAATGAATGTCTCCCTC -3'

Sequencing Primer
(F):5'- AGACTGTCGTGACCGGGG -3'
(R):5'- GATAATGAATGTCTCCCTCGACGG -3'

Posted On

2015-04-30