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, VGAT, R75019

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

158452687-158457668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158456809 bp (GRCm39)

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
Adam34	A	T	8: 44,103,682 (GRCm39)	C654*	probably null	Het
Adamts19	T	A	18: 59,023,365 (GRCm39)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,140,584 (GRCm39)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,237,657 (GRCm39)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,777,544 (GRCm39)	I198V	probably benign	Het
Bcan	T	A	3: 87,901,503 (GRCm39)	I400F	probably damaging	Het
Capn10	A	G	1: 92,874,620 (GRCm39)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,451,516 (GRCm39)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm39)	L309P	probably benign	Het
Ccser1	T	A	6: 61,288,449 (GRCm39)	I204K	probably benign	Het
Cd276	T	C	9: 58,444,732 (GRCm39)	T80A	probably benign	Het
Cdh3	T	C	8: 107,265,700 (GRCm39)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,320,836 (GRCm39)	T659A	possibly damaging	Het
Col6a4	C	T	9: 105,949,608 (GRCm39)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,443,812 (GRCm39)	V575D	probably damaging	Het
Ep400	G	A	5: 110,841,040 (GRCm39)	Q1795*	probably null	Het
Gcnt3	A	G	9: 69,942,359 (GRCm39)	C70R	probably damaging	Het
Gm12258	T	C	11: 58,749,113 (GRCm39)	I96T	possibly damaging	Het
Gpr183	A	G	14: 122,191,675 (GRCm39)	F282S	probably damaging	Het
Igfals	T	C	17: 25,100,052 (GRCm39)	V381A	probably benign	Het
Irs3	C	A	5: 137,642,783 (GRCm39)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,530,219 (GRCm39)	F410S	probably damaging	Het
Klc4	T	C	17: 46,942,785 (GRCm39)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,670,750 (GRCm39)	Q134L	unknown	Het
Lyst	T	C	13: 13,809,811 (GRCm39)	S494P	probably damaging	Het
Marchf3	A	G	18: 56,944,967 (GRCm39)	M42T	probably benign	Het
Myh7	A	G	14: 55,228,246 (GRCm39)	I250T	probably benign	Het
N4bp1	G	T	8: 87,571,576 (GRCm39)	H807Q	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nfs1	C	T	2: 155,967,256 (GRCm39)	G44D	probably damaging	Het
Nrg1	C	T	8: 32,308,681 (GRCm39)	R445H	probably damaging	Het
Or14c43	T	C	7: 86,115,420 (GRCm39)	V267A	probably benign	Het
Or4e5	A	T	14: 52,728,229 (GRCm39)	F64Y	probably damaging	Het
Or56a5	T	A	7: 104,793,077 (GRCm39)	D141V	possibly damaging	Het
Pak5	C	T	2: 135,958,807 (GRCm39)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,719,339 (GRCm39)		probably null	Het
Sin3b	G	T	8: 73,468,147 (GRCm39)	V290L	probably benign	Het
Sirt1	T	C	10: 63,157,588 (GRCm39)	T609A	probably benign	Het
Skint5	A	T	4: 113,347,875 (GRCm39)	S1289T	unknown	Het
Slc35b3	A	G	13: 39,139,774 (GRCm39)	S18P	probably benign	Het
Spaca7	T	A	8: 12,636,501 (GRCm39)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,299,501 (GRCm39)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 88,991,645 (GRCm39)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,418 (GRCm39)	L1117*	probably null	Het
Wdcp	T	C	12: 4,901,815 (GRCm39)	L557P	probably damaging	Het
Wwp2	T	C	8: 108,210,042 (GRCm39)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,538,043 (GRCm39)	R467H	possibly damaging	Het
Zfp747l1	G	T	7: 126,983,652 (GRCm39)	H483Q	possibly damaging	Het
Zfp839	T	A	12: 110,821,684 (GRCm39)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,517,774 (GRCm39)	Q1106*	probably null	Het
Zrsr2-ps1	T	A	11: 22,924,158 (GRCm39)	C311S	probably damaging	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
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
R8194:Slc32a1	UTSW	2	158,455,761 (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'- AGAAGTCTCTCTTCCAGGAAGGCAG -3'
(R):5'- CCCAATCAGGGCGATGTGGAATAG -3'

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

Posted On

2014-05-09