Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Slc32a1'

188838

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

039689-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1653 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

158610767-158615748 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158614889 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 488 (H488L)

Ref Sequence

ENSEMBL: ENSMUSP00000036299 (fasta)

Gene Model

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

AlphaFold

O35633

Predicted Effect

probably benign
Transcript: ENSMUST00000045738
AA Change: H488L

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: H488L

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951 (GRCm38)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,858,287 (GRCm38)	I96T	possibly damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521 (GRCm38)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,763,443 (GRCm38)	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
March3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Olfr1507	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Olfr299	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Olfr683	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak7	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678 (GRCm38)	S1289T	unknown	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527 (GRCm38)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het
Zrsr1	T	A	11: 22,974,158 (GRCm38)	C311S	probably damaging	Het

Other mutations in Slc32a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0993:Slc32a1	UTSW	2	158,611,420 (GRCm38)	missense	possibly damaging	0.57
R1368:Slc32a1	UTSW	2	158,611,320 (GRCm38)	missense	probably benign
R1519:Slc32a1	UTSW	2	158,614,577 (GRCm38)	missense	probably damaging	0.97
R1632:Slc32a1	UTSW	2	158,613,890 (GRCm38)	missense	possibly damaging	0.89
R1822:Slc32a1	UTSW	2	158,611,378 (GRCm38)	missense	probably benign
R1957:Slc32a1	UTSW	2	158,614,043 (GRCm38)	missense	probably damaging	1.00
R3811:Slc32a1	UTSW	2	158,614,736 (GRCm38)	missense	possibly damaging	0.68
R3914:Slc32a1	UTSW	2	158,611,232 (GRCm38)	start gained	probably benign
R3949:Slc32a1	UTSW	2	158,611,232 (GRCm38)	start gained	probably benign
R4021:Slc32a1	UTSW	2	158,611,232 (GRCm38)	start gained	probably benign
R4850:Slc32a1	UTSW	2	158,614,192 (GRCm38)	missense	possibly damaging	0.92
R4953:Slc32a1	UTSW	2	158,614,057 (GRCm38)	missense	possibly damaging	0.76
R5292:Slc32a1	UTSW	2	158,611,387 (GRCm38)	missense	probably damaging	0.98
R5510:Slc32a1	UTSW	2	158,614,796 (GRCm38)	missense	probably damaging	1.00
R6431:Slc32a1	UTSW	2	158,611,537 (GRCm38)	missense	probably benign	0.06
R7072:Slc32a1	UTSW	2	158,611,496 (GRCm38)	nonsense	probably null
R7170:Slc32a1	UTSW	2	158,611,323 (GRCm38)	missense	probably damaging	0.97
R7350:Slc32a1	UTSW	2	158,614,406 (GRCm38)	missense	probably damaging	1.00
R8073:Slc32a1	UTSW	2	158,614,765 (GRCm38)	missense	probably damaging	1.00
R8194:Slc32a1	UTSW	2	158,613,841 (GRCm38)	missense	probably damaging	1.00
R8827:Slc32a1	UTSW	2	158,611,354 (GRCm38)	missense	probably damaging	0.96
R9374:Slc32a1	UTSW	2	158,614,075 (GRCm38)	missense	probably damaging	1.00
R9449:Slc32a1	UTSW	2	158,614,321 (GRCm38)	missense	probably benign	0.14
X0067:Slc32a1	UTSW	2	158,613,947 (GRCm38)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAAGTCTCTCTTCCAGGAAGGCAG -3'
(R):5'- CCCAATCAGGGCGATGTGGAATAG -3'

Sequencing Primer
(F):5'- ACGGTCGCCTTAAGTCCTG -3'
(R):5'- gtgggggcgggaatgac -3'

Posted On

2014-05-09