Mutagenetix > Incidental Mutation

Incidental Mutation 'R0312:Slc1a3'

25308

Institutional Source

Beutler Lab

Gene Symbol

Slc1a3

Ensembl Gene

ENSMUSG00000005360

Gene Name

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

Synonyms

Gmt1, MGluT1, B430115D02Rik, Eaat1, GLAST

MMRRC Submission

038522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0312 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8663608-8740248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8665721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 509 (M509I)

Ref Sequence

ENSEMBL: ENSMUSP00000005493 (fasta)

Gene Model

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

AlphaFold

P56564

Predicted Effect

probably benign
Transcript: ENSMUST00000005493
AA Change: M509I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: M509I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125997

Meta Mutation Damage Score

0.0583

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.3%
20x: 90.3%

Validation Efficiency

100% (60/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	G	T	12: 118,836,572 (GRCm39)	A1113D	probably damaging	Het
Adcy1	G	T	11: 7,099,538 (GRCm39)	A673S	probably benign	Het
Apob	T	A	12: 8,059,034 (GRCm39)	H2505Q	probably benign	Het
Arhgap12	A	G	18: 6,061,982 (GRCm39)		probably benign	Het
Bcl9	C	T	3: 97,116,727 (GRCm39)	E656K	probably benign	Het
Bnc1	C	T	7: 81,627,072 (GRCm39)	R106H	possibly damaging	Het
Ccdc54	T	C	16: 50,411,165 (GRCm39)	K34E	possibly damaging	Het
Cfap65	G	A	1: 74,943,226 (GRCm39)	R1600W	probably damaging	Het
Csmd1	A	T	8: 16,034,760 (GRCm39)	N2470K	probably damaging	Het
Cspp1	T	C	1: 10,129,054 (GRCm39)		probably benign	Het
Dgkz	A	T	2: 91,768,684 (GRCm39)	I699N	probably damaging	Het
Dhx40	G	A	11: 86,662,775 (GRCm39)	T639I	probably damaging	Het
Dlg1	A	G	16: 31,609,085 (GRCm39)	T227A	probably benign	Het
Dnah10	G	A	5: 124,873,433 (GRCm39)		probably benign	Het
Dnah3	T	A	7: 119,644,882 (GRCm39)	K1133M	probably damaging	Het
Dock5	G	C	14: 68,033,440 (GRCm39)	F976L	possibly damaging	Het
Evc	C	T	5: 37,485,885 (GRCm39)	C97Y	possibly damaging	Het
Fbxw7	T	C	3: 84,874,876 (GRCm39)		probably benign	Het
Fggy	A	C	4: 95,732,422 (GRCm39)	D112A	probably damaging	Het
Fpgs	A	G	2: 32,574,813 (GRCm39)	Y435H	probably damaging	Het
Fryl	T	A	5: 73,230,231 (GRCm39)	H1642L	probably damaging	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gda	T	A	19: 21,394,369 (GRCm39)	I237F	probably damaging	Het
Glt1d1	A	G	5: 127,768,134 (GRCm39)	N247S	probably damaging	Het
Gm7647	T	C	5: 95,110,839 (GRCm39)	S7P	probably benign	Het
Gpr31b	C	T	17: 13,270,498 (GRCm39)	V224I	probably damaging	Het
Hlf	G	A	11: 90,278,701 (GRCm39)	P121L	possibly damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ism1	G	T	2: 139,520,592 (GRCm39)	M1I	probably null	Het
Kansl1l	T	C	1: 66,817,265 (GRCm39)	N365S	probably null	Het
Lama1	T	C	17: 68,082,846 (GRCm39)	L1368P	possibly damaging	Het
Lima1	A	G	15: 99,678,968 (GRCm39)	V491A	possibly damaging	Het
Lrch1	G	T	14: 75,185,034 (GRCm39)	H23N	possibly damaging	Het
Lrp1b	A	G	2: 41,172,183 (GRCm39)	V1488A	probably damaging	Het
Lrp8	T	C	4: 107,664,052 (GRCm39)		probably benign	Het
Lrrc8e	A	G	8: 4,285,733 (GRCm39)	S653G	probably benign	Het
Mnat1	A	G	12: 73,228,558 (GRCm39)	T141A	possibly damaging	Het
Mpeg1	C	A	19: 12,439,767 (GRCm39)	N408K	probably damaging	Het
Myo7b	T	C	18: 32,147,390 (GRCm39)	E51G	possibly damaging	Het
Myrf	G	C	19: 10,195,526 (GRCm39)	T428S	probably benign	Het
Naa35	A	G	13: 59,757,395 (GRCm39)	T257A	probably benign	Het
Obox5	T	A	7: 15,491,485 (GRCm39)	H8Q	probably damaging	Het
Or1j4	A	T	2: 36,740,372 (GRCm39)	I105L	probably benign	Het
Or51q1c	T	C	7: 103,653,232 (GRCm39)	V250A	probably damaging	Het
Or5h26	A	T	16: 58,988,202 (GRCm39)	F101L	probably benign	Het
Phldb2	G	T	16: 45,609,410 (GRCm39)	T732N	probably damaging	Het
Phyhip	G	T	14: 70,704,410 (GRCm39)	A210S	possibly damaging	Het
Pik3r4	A	G	9: 105,563,409 (GRCm39)	D1262G	probably damaging	Het
Pip	G	A	6: 41,826,798 (GRCm39)	E48K	possibly damaging	Het
Plk4	C	T	3: 40,767,982 (GRCm39)	L74F	probably damaging	Het
Prdm14	G	A	1: 13,189,031 (GRCm39)	R438W	probably damaging	Het
Rab19	G	A	6: 39,361,023 (GRCm39)	R57H	probably benign	Het
Rtl1	G	T	12: 109,556,661 (GRCm39)	P1726Q	probably damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Skint6	A	T	4: 112,666,297 (GRCm39)	V1176D	possibly damaging	Het
Slc12a1	A	G	2: 125,067,948 (GRCm39)	I1012V	probably damaging	Het
Spata18	G	A	5: 73,824,224 (GRCm39)	G35E	probably benign	Het
Spata31h1	A	T	10: 82,120,203 (GRCm39)	I4269N	probably damaging	Het
Sspo	C	T	6: 48,432,335 (GRCm39)	P801L	possibly damaging	Het
Ugt2b37	C	T	5: 87,398,524 (GRCm39)	G304D	probably damaging	Het
Vmn2r25	A	T	6: 123,805,539 (GRCm39)		probably benign	Het
Xrcc6	C	A	15: 81,911,423 (GRCm39)		probably null	Het

Other mutations in Slc1a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01133:Slc1a3	APN	15	8,680,477 (GRCm39)	missense	probably damaging	1.00
IGL01133:Slc1a3	APN	15	8,675,171 (GRCm39)	missense	probably damaging	1.00
IGL01696:Slc1a3	APN	15	8,671,822 (GRCm39)	missense	probably benign	0.19
IGL03108:Slc1a3	APN	15	8,668,562 (GRCm39)	missense	probably damaging	1.00
R0128:Slc1a3	UTSW	15	8,665,693 (GRCm39)	missense	probably benign	0.07
R0206:Slc1a3	UTSW	15	8,738,040 (GRCm39)	splice site	probably benign
R0385:Slc1a3	UTSW	15	8,668,619 (GRCm39)	missense	probably damaging	1.00
R0538:Slc1a3	UTSW	15	8,680,406 (GRCm39)	missense	probably benign
R0579:Slc1a3	UTSW	15	8,717,793 (GRCm39)	missense	probably damaging	0.98
R1799:Slc1a3	UTSW	15	8,717,888 (GRCm39)	missense	probably damaging	1.00
R2029:Slc1a3	UTSW	15	8,675,153 (GRCm39)	missense	probably benign	0.29
R3236:Slc1a3	UTSW	15	8,668,607 (GRCm39)	missense	probably damaging	0.98
R4494:Slc1a3	UTSW	15	8,668,579 (GRCm39)	missense	probably damaging	1.00
R5010:Slc1a3	UTSW	15	8,680,330 (GRCm39)	splice site	probably benign
R5154:Slc1a3	UTSW	15	8,672,433 (GRCm39)	missense	probably benign	0.09
R5226:Slc1a3	UTSW	15	8,671,709 (GRCm39)	missense	probably damaging	1.00
R5538:Slc1a3	UTSW	15	8,675,188 (GRCm39)	missense	probably damaging	0.99
R6049:Slc1a3	UTSW	15	8,675,177 (GRCm39)	missense	probably damaging	1.00
R6072:Slc1a3	UTSW	15	8,738,052 (GRCm39)	missense	probably damaging	0.99
R6496:Slc1a3	UTSW	15	8,679,065 (GRCm39)	missense	probably benign	0.01
R7015:Slc1a3	UTSW	15	8,679,052 (GRCm39)	missense	probably damaging	1.00
R7168:Slc1a3	UTSW	15	8,675,386 (GRCm39)	missense	possibly damaging	0.79
R7255:Slc1a3	UTSW	15	8,672,483 (GRCm39)	missense	possibly damaging	0.90
R7476:Slc1a3	UTSW	15	8,672,568 (GRCm39)	missense	probably damaging	0.99
R7732:Slc1a3	UTSW	15	8,680,472 (GRCm39)	missense	probably benign	0.09
R8041:Slc1a3	UTSW	15	8,665,683 (GRCm39)	missense	probably benign	0.17
R8500:Slc1a3	UTSW	15	8,671,853 (GRCm39)	missense	probably damaging	0.97
R8525:Slc1a3	UTSW	15	8,680,423 (GRCm39)	missense	possibly damaging	0.93
R8525:Slc1a3	UTSW	15	8,672,459 (GRCm39)	missense	possibly damaging	0.52
R8698:Slc1a3	UTSW	15	8,668,636 (GRCm39)	missense	probably damaging	1.00
R8966:Slc1a3	UTSW	15	8,680,332 (GRCm39)	critical splice donor site	probably null
R9711:Slc1a3	UTSW	15	8,675,177 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAACCGATAGGTTTGGGCTGCTGC -3'
(R):5'- TTCTCCAGCCAACTCACGATAGGTG -3'

Sequencing Primer
(F):5'- TTCCAATCCTATCAGAGTAGGGAGG -3'
(R):5'- ATAGGTGCTGGGATCTAGTGG -3'

Posted On

2013-04-16