Mutagenetix > Incidental Mutation

Incidental Mutation 'R8194:Slc32a1'

635331

Institutional Source

Beutler Lab

Gene Symbol

Slc32a1

Ensembl Gene

ENSMUSG00000037771

Gene Name

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

Synonyms

Viaat, VGAT, R75019

MMRRC Submission

067617-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158452687-158457668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158455761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 139 (Y139H)

Ref Sequence

ENSEMBL: ENSMUSP00000036299 (fasta)

Gene Model

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

AlphaFold

O35633

Predicted Effect

probably damaging
Transcript: ENSMUST00000045738
AA Change: Y139H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: Y139H

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	114	513	9.4e-102	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	T	A	12: 71,106,889 (GRCm39)	Y320*	probably null	Het
Ash1l	T	A	3: 88,960,062 (GRCm39)	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,713,694 (GRCm39)	C55*	probably null	Het
Cacna1s	A	T	1: 136,005,430 (GRCm39)	N405I	probably benign	Het
Capn11	A	T	17: 45,944,325 (GRCm39)	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,036,244 (GRCm39)	R71G	probably benign	Het
Ccser2	G	A	14: 36,618,220 (GRCm39)	R772W	probably damaging	Het
Cenpf	T	A	1: 189,414,600 (GRCm39)	E172D	probably benign	Het
Cep85	T	C	4: 133,861,400 (GRCm39)	M627V	probably null	Het
Chd1	G	A	17: 17,594,737 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,437,759 (GRCm39)	H441R	probably benign	Het
Cyp2d11	G	T	15: 82,274,638 (GRCm39)	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,514,159 (GRCm39)	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,414 (GRCm39)	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,217,364 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,954,716 (GRCm39)	S1090G	probably damaging	Het
Malrd1	A	G	2: 15,929,931 (GRCm39)	D1479G	unknown	Het
Man2a2	T	C	7: 80,010,766 (GRCm39)	K742E	probably benign	Het
Mapk8	A	T	14: 33,104,241 (GRCm39)	S392T	probably benign	Het
Mark3	T	C	12: 111,559,117 (GRCm39)	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,986,867 (GRCm39)	I219V	probably benign	Het
Mlycd	A	T	8: 120,134,332 (GRCm39)	E278V	probably benign	Het
Muc2	G	T	7: 141,290,801 (GRCm39)	C29F		Het
Mup20	T	C	4: 61,971,721 (GRCm39)	I77V	probably benign	Het
Myh3	A	G	11: 66,982,828 (GRCm39)	E849G	probably damaging	Het
Nedd4	A	G	9: 72,593,389 (GRCm39)	N154S	probably damaging	Het
Odad4	G	A	11: 100,454,502 (GRCm39)	G429E	probably benign	Het
Or1e1f	A	T	11: 73,856,240 (GRCm39)	I269F	probably benign	Het
Pcdh7	A	T	5: 57,877,678 (GRCm39)	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,285,886 (GRCm39)	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,569,710 (GRCm39)	V19M	probably damaging	Het
Prss35	T	G	9: 86,637,666 (GRCm39)	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,291,747 (GRCm39)	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,575,651 (GRCm39)	V315F	probably damaging	Het
Slc5a2	T	C	7: 127,870,328 (GRCm39)	V522A	probably benign	Het
Slc6a6	A	T	6: 91,717,952 (GRCm39)	Q297L	probably damaging	Het
Sos2	A	C	12: 69,645,598 (GRCm39)	Y914D	probably damaging	Het
Spata1	G	T	3: 146,195,614 (GRCm39)	T32N	possibly damaging	Het
Srcap	C	T	7: 127,138,369 (GRCm39)	R1180C	probably damaging	Het
St14	A	T	9: 31,042,921 (GRCm39)	M1K	probably null	Het
Tcaf1	T	C	6: 42,652,236 (GRCm39)	T749A	probably benign	Het
Tcp1	T	C	17: 13,141,621 (GRCm39)		probably null	Het
Tle6	A	G	10: 81,426,888 (GRCm39)	V576A	probably damaging	Het
Usp17lc	T	A	7: 103,067,407 (GRCm39)	M234K	probably benign	Het
Washc4	A	G	10: 83,416,163 (GRCm39)	I818V	possibly damaging	Het
Zdhhc18	A	G	4: 133,341,165 (GRCm39)	L236P	probably damaging	Het
Zfp266	T	C	9: 20,411,610 (GRCm39)	D189G	probably benign	Het
Zfp474	A	T	18: 52,772,229 (GRCm39)	D294V	probably damaging	Het
Zfp568	T	C	7: 29,722,758 (GRCm39)	F568L	probably damaging	Het
Zfp93	A	G	7: 23,975,479 (GRCm39)	K488R	probably benign	Het

Other mutations in Slc32a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0993:Slc32a1	UTSW	2	158,453,340 (GRCm39)	missense	possibly damaging	0.57
R1368:Slc32a1	UTSW	2	158,453,240 (GRCm39)	missense	probably benign
R1519:Slc32a1	UTSW	2	158,456,497 (GRCm39)	missense	probably damaging	0.97
R1632:Slc32a1	UTSW	2	158,455,810 (GRCm39)	missense	possibly damaging	0.89
R1653:Slc32a1	UTSW	2	158,456,809 (GRCm39)	missense	probably benign	0.18
R1822:Slc32a1	UTSW	2	158,453,298 (GRCm39)	missense	probably benign
R1957:Slc32a1	UTSW	2	158,455,963 (GRCm39)	missense	probably damaging	1.00
R3811:Slc32a1	UTSW	2	158,456,656 (GRCm39)	missense	possibly damaging	0.68
R3914:Slc32a1	UTSW	2	158,453,152 (GRCm39)	start gained	probably benign
R3949:Slc32a1	UTSW	2	158,453,152 (GRCm39)	start gained	probably benign
R4021:Slc32a1	UTSW	2	158,453,152 (GRCm39)	start gained	probably benign
R4850:Slc32a1	UTSW	2	158,456,112 (GRCm39)	missense	possibly damaging	0.92
R4953:Slc32a1	UTSW	2	158,455,977 (GRCm39)	missense	possibly damaging	0.76
R5292:Slc32a1	UTSW	2	158,453,307 (GRCm39)	missense	probably damaging	0.98
R5510:Slc32a1	UTSW	2	158,456,716 (GRCm39)	missense	probably damaging	1.00
R6431:Slc32a1	UTSW	2	158,453,457 (GRCm39)	missense	probably benign	0.06
R7072:Slc32a1	UTSW	2	158,453,416 (GRCm39)	nonsense	probably null
R7170:Slc32a1	UTSW	2	158,453,243 (GRCm39)	missense	probably damaging	0.97
R7350:Slc32a1	UTSW	2	158,456,326 (GRCm39)	missense	probably damaging	1.00
R8073:Slc32a1	UTSW	2	158,456,685 (GRCm39)	missense	probably damaging	1.00
R8827:Slc32a1	UTSW	2	158,453,274 (GRCm39)	missense	probably damaging	0.96
R9374:Slc32a1	UTSW	2	158,455,995 (GRCm39)	missense	probably damaging	1.00
R9449:Slc32a1	UTSW	2	158,456,241 (GRCm39)	missense	probably benign	0.14
X0067:Slc32a1	UTSW	2	158,455,867 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TCTTTCACGAGGATTCACCC -3'
(R):5'- TGATCTGCGCCACATTGACC -3'

Sequencing Primer
(F):5'- CGAGGATTCACCCCCATTC -3'
(R):5'- GCCACATTGACCACGCG -3'

Posted On

2020-07-13