Mutagenetix > Incidental Mutation

Incidental Mutation 'R4850:Slc32a1'

373446

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

042462-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4850 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

158452687-158457668 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158456112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 256 (F256L)

Ref Sequence

ENSEMBL: ENSMUSP00000036299 (fasta)

Gene Model

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

AlphaFold

O35633

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045738
AA Change: F256L

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000036299
Gene: ENSMUSG00000037771
AA Change: F256L

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

0.5474

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

99% (79/80)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,709,429 (GRCm39)	A42T	probably benign	Het
Acsf3	T	C	8: 123,544,175 (GRCm39)	V551A	probably damaging	Het
Adgrl2	G	A	3: 148,564,656 (GRCm39)	T304I	probably damaging	Het
Akr1d1	A	G	6: 37,531,522 (GRCm39)		probably null	Het
Ankrd17	A	T	5: 90,412,645 (GRCm39)	H1226Q	probably damaging	Het
Arap1	T	C	7: 101,047,998 (GRCm39)	I847T	probably damaging	Het
Atad2b	G	A	12: 4,993,251 (GRCm39)	G257S	probably benign	Het
Cand2	A	T	6: 115,778,909 (GRCm39)	T1158S	probably benign	Het
Cic	G	A	7: 24,972,327 (GRCm39)	R686H	probably damaging	Het
Cldn1	T	A	16: 26,181,913 (GRCm39)	T99S	probably benign	Het
Cnga3	G	T	1: 37,297,087 (GRCm39)	E173*	probably null	Het
Cplane1	T	C	15: 8,292,422 (GRCm39)	S3012P	unknown	Het
Cryge	G	T	1: 65,090,211 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,376,445 (GRCm39)	L1410H	probably damaging	Het
Dync2h1	T	C	9: 7,134,364 (GRCm39)	T1548A	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
Eml5	T	C	12: 98,756,878 (GRCm39)	D1917G	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fn3krp	A	T	11: 121,315,879 (GRCm39)	H90L	possibly damaging	Het
Garin2	A	G	12: 78,761,927 (GRCm39)	D197G	probably damaging	Het
Gm10718	A	T	9: 3,023,716 (GRCm39)	T56S	probably benign	Het
Gm4847	A	T	1: 166,469,908 (GRCm39)	I55K	probably damaging	Het
Gsn	T	A	2: 35,173,912 (GRCm39)		probably null	Het
H2bc11	G	T	13: 22,227,421 (GRCm39)		probably benign	Het
Haghl	T	C	17: 26,001,980 (GRCm39)		probably benign	Het
Hmg20b	T	A	10: 81,182,761 (GRCm39)	E139V	probably damaging	Het
Hsd3b6	G	A	3: 98,715,221 (GRCm39)	T57I	probably benign	Het
Igkv5-48	A	G	6: 69,703,780 (GRCm39)	S42P	probably damaging	Het
Igsf23	T	C	7: 19,687,859 (GRCm39)		probably benign	Het
Kcnt1	T	C	2: 25,798,112 (GRCm39)	F874L	probably damaging	Het
Maf1	T	C	15: 76,237,162 (GRCm39)	F110L	possibly damaging	Het
Mtpap	C	T	18: 4,387,044 (GRCm39)	R365W	probably damaging	Het
Mtus1	A	C	8: 41,537,507 (GRCm39)	S70A	possibly damaging	Het
Nfatc1	T	A	18: 80,741,080 (GRCm39)	T307S	probably benign	Het
Nphs1	T	G	7: 30,162,657 (GRCm39)	S379A	possibly damaging	Het
Nup205	A	G	6: 35,207,465 (GRCm39)	T1506A	probably benign	Het
Or13f5	T	C	4: 52,825,450 (GRCm39)	S18P	possibly damaging	Het
Or8u9	T	A	2: 86,002,015 (GRCm39)	I49F	probably damaging	Het
Pcdhga8	A	T	18: 37,860,762 (GRCm39)	Y606F	probably damaging	Het
Pde7a	A	G	3: 19,297,281 (GRCm39)	V123A	probably benign	Het
Pex1	C	T	5: 3,674,426 (GRCm39)	T809I	probably benign	Het
Prdm13	C	A	4: 21,678,243 (GRCm39)	R749L	possibly damaging	Het
Prkcd	A	G	14: 30,321,700 (GRCm39)	L498P	probably damaging	Het
Pros1	A	T	16: 62,705,887 (GRCm39)	E67V	probably damaging	Het
Rab44	A	G	17: 29,359,063 (GRCm39)	E417G	possibly damaging	Het
Rangrf	A	G	11: 68,864,466 (GRCm39)		probably null	Het
Rp1	T	A	1: 4,418,898 (GRCm39)	K738M	probably damaging	Het
Ryr2	A	T	13: 11,683,706 (GRCm39)	D3119E	probably damaging	Het
Ryr2	G	A	13: 11,760,638 (GRCm39)	R1482C	probably damaging	Het
Sbspon	T	A	1: 15,929,192 (GRCm39)	T200S	probably damaging	Het
Sfxn5	T	C	6: 85,309,358 (GRCm39)		probably benign	Het
Slc26a8	T	A	17: 28,873,857 (GRCm39)	I377F	probably benign	Het
Slc30a7	A	G	3: 115,786,657 (GRCm39)	F72L	probably damaging	Het
Slco6b1	T	C	1: 96,839,558 (GRCm39)		noncoding transcript	Het
Smpd1	A	G	7: 105,205,192 (GRCm39)	H357R	probably benign	Het
Sncaip	A	T	18: 53,004,456 (GRCm39)	H361L	probably damaging	Het
Tenm2	A	C	11: 35,914,315 (GRCm39)	Y2406*	probably null	Het
Terb1	T	A	8: 105,212,057 (GRCm39)	H308L	probably benign	Het
Trim61	A	T	8: 65,466,070 (GRCm39)	L397H	probably damaging	Het
Trp53bp1	T	A	2: 121,035,594 (GRCm39)		probably null	Het
Ttn	T	G	2: 76,611,899 (GRCm39)	E9007D	possibly damaging	Het
Urb1	A	T	16: 90,592,302 (GRCm39)	C319*	probably null	Het
Vmn2r95	T	C	17: 18,671,915 (GRCm39)	Y551H	probably damaging	Het
Vwde	A	T	6: 13,196,047 (GRCm39)	V326D	possibly damaging	Het
Xdh	A	G	17: 74,205,330 (GRCm39)	L1045P	probably damaging	Het
Zfp638	T	C	6: 83,956,457 (GRCm39)	I1688T	possibly damaging	Het
Zwint	T	A	10: 72,491,788 (GRCm39)		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
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'- GACTCGTATGTGGCCATAGC -3'
(R):5'- TAGCTGAACACGATGATGCC -3'

Sequencing Primer
(F):5'- TATGTGGCCATAGCTAACGC -3'
(R):5'- CCAATGGAGATGGGAAACTTCTTGAC -3'

Posted On

2016-03-01