Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01133:Slc1a3'

52842

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc1a3

Ensembl Gene

ENSMUSG00000005360

Gene Name

solute carrier family 1 (glial high affinity glutamate transporter), member 3

Synonyms

GLAST, MGluT1, Gmt1, B430115D02Rik, Eaat1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

8634124-8710764 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8645687 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 278 (I278T)

Ref Sequence

ENSEMBL: ENSMUSP00000005493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005493]

Predicted Effect

probably damaging
Transcript: ENSMUST00000005493
AA Change: I278T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: I278T

Domain	Start	End	E-Value	Type
Pfam:SDF	50	497	8.5e-135	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125997

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128879

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene display no abnormalities with respect to appearance or survival but do display functional abnormalities related to the central nervous system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,595,434	D486E	probably damaging	Het
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
1700007G11Rik	T	C	5: 98,498,381		probably null	Het
Adam4	T	C	12: 81,421,446	T134A	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
BC005561	A	G	5: 104,517,662	T17A	probably benign	Het
Cartpt	T	G	13: 99,900,040	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ccer1	T	C	10: 97,694,539	F355L	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cfap36	A	C	11: 29,234,414	V114G	probably damaging	Het
Col4a3bp	A	G	13: 96,614,802	E320G	probably damaging	Het
Cyp2b9	G	A	7: 26,210,235	G476D	probably damaging	Het
Eif3l	T	C	15: 79,076,920	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,725,398	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,411,960	F236L	possibly damaging	Het
Golga1	T	C	2: 39,023,472	T501A	probably benign	Het
Heg1	C	T	16: 33,727,287	H815Y	probably benign	Het
Krt1	A	T	15: 101,848,193	D298E	probably damaging	Het
Mecr	T	A	4: 131,843,596	S32T	probably benign	Het
Med1	A	T	11: 98,157,986	Y661*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,416,417	A37S	probably benign	Het
Plekha7	G	T	7: 116,145,241		probably null	Het
Ralgapa1	T	C	12: 55,642,348	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,642,359	H1938R	probably damaging	Het
Sec31b	A	G	19: 44,527,041	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,121,499	I227T	probably benign	Het
Spen	T	C	4: 141,489,901	K449R	unknown	Het
Tmem130	A	G	5: 144,752,445	S129P	probably damaging	Het
Trim68	A	T	7: 102,679,141		probably null	Het
Vdac3-ps1	T	C	13: 18,031,449		noncoding transcript	Het
Vmn2r75	A	G	7: 86,148,032		probably benign	Het
Zbtb9	G	T	17: 26,975,011		probably benign	Het
Zfp568	T	A	7: 29,987,808		probably null	Het

Other mutations in Slc1a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Slc1a3	APN	15	8650993	missense	probably damaging	1.00
IGL01696:Slc1a3	APN	15	8642338	missense	probably benign	0.19
IGL03108:Slc1a3	APN	15	8639078	missense	probably damaging	1.00
R0128:Slc1a3	UTSW	15	8636209	missense	probably benign	0.07
R0206:Slc1a3	UTSW	15	8708556	splice site	probably benign
R0312:Slc1a3	UTSW	15	8636237	missense	probably benign	0.00
R0385:Slc1a3	UTSW	15	8639135	missense	probably damaging	1.00
R0538:Slc1a3	UTSW	15	8650922	missense	probably benign
R0579:Slc1a3	UTSW	15	8688309	missense	probably damaging	0.98
R1799:Slc1a3	UTSW	15	8688404	missense	probably damaging	1.00
R2029:Slc1a3	UTSW	15	8645669	missense	probably benign	0.29
R3236:Slc1a3	UTSW	15	8639123	missense	probably damaging	0.98
R4494:Slc1a3	UTSW	15	8639095	missense	probably damaging	1.00
R5010:Slc1a3	UTSW	15	8650846	splice site	probably benign
R5154:Slc1a3	UTSW	15	8642949	missense	probably benign	0.09
R5226:Slc1a3	UTSW	15	8642225	missense	probably damaging	1.00
R5538:Slc1a3	UTSW	15	8645704	missense	probably damaging	0.99
R6049:Slc1a3	UTSW	15	8645693	missense	probably damaging	1.00
R6072:Slc1a3	UTSW	15	8708568	missense	probably damaging	0.99
R6496:Slc1a3	UTSW	15	8649581	missense	probably benign	0.01
R7015:Slc1a3	UTSW	15	8649568	missense	probably damaging	1.00
R7168:Slc1a3	UTSW	15	8645902	missense	possibly damaging	0.79
R7255:Slc1a3	UTSW	15	8642999	missense	possibly damaging	0.90
R7476:Slc1a3	UTSW	15	8643084	missense	probably damaging	0.99
R7732:Slc1a3	UTSW	15	8650988	missense	probably benign	0.09
R8041:Slc1a3	UTSW	15	8636199	missense	probably benign	0.17
R8500:Slc1a3	UTSW	15	8642369	missense	probably damaging	0.97
R8525:Slc1a3	UTSW	15	8642975	missense	possibly damaging	0.52
R8525:Slc1a3	UTSW	15	8650939	missense	possibly damaging	0.93

Posted On

2013-06-21