Mutagenetix > Incidental Mutation

Incidental Mutation 'R3236:Slc1a3'

259054

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

040618-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3236 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8663608-8740248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8668607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 453 (I453V)

Ref Sequence

ENSEMBL: ENSMUSP00000005493 (fasta)

Gene Model

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

AlphaFold

P56564

Predicted Effect

probably damaging
Transcript: ENSMUST00000005493
AA Change: I453V

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: I453V

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

Meta Mutation Damage Score

0.2081

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (64/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
5730455P16Rik	G	A	11: 80,258,996 (GRCm39)	L255F	probably damaging	Het
Aff2	T	A	X: 68,907,543 (GRCm39)	V1175E	possibly damaging	Het
Agbl3	A	G	6: 34,800,022 (GRCm39)		probably null	Het
Armh3	A	T	19: 45,963,722 (GRCm39)		probably benign	Het
Atm	T	A	9: 53,391,048 (GRCm39)	D1842V	probably benign	Het
Bcar3	C	A	3: 122,318,645 (GRCm39)	Q678K	probably benign	Het
Ccdc88a	A	G	11: 29,397,995 (GRCm39)	T243A	possibly damaging	Het
Col5a3	G	T	9: 20,718,949 (GRCm39)	N268K	unknown	Het
Col6a1	G	A	10: 76,547,154 (GRCm39)	T737M	unknown	Het
Cyp3a25	T	C	5: 145,939,938 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,985,680 (GRCm39)	T1466A	probably benign	Het
Dnah9	G	A	11: 65,845,815 (GRCm39)	T3023I	probably benign	Het
Ecm1	G	T	3: 95,642,158 (GRCm39)	Q476K	possibly damaging	Het
Eml6	A	G	11: 29,781,097 (GRCm39)		probably null	Het
Fbh1	T	C	2: 11,774,637 (GRCm39)	D36G	probably damaging	Het
Fyb1	A	C	15: 6,659,597 (GRCm39)	D434A	probably damaging	Het
Gm5478	A	G	15: 101,552,738 (GRCm39)	Y398H	probably damaging	Het
H2-Q6	C	A	17: 35,644,676 (GRCm39)	T155K	probably damaging	Het
Hk1	T	C	10: 62,131,798 (GRCm39)		probably null	Het
Kdm6b	A	G	11: 69,297,192 (GRCm39)	Y387H	probably damaging	Het
Lipn	A	G	19: 34,046,138 (GRCm39)	N37S	probably benign	Het
Lrig3	G	A	10: 125,833,056 (GRCm39)	C310Y	probably damaging	Het
Map6	T	A	7: 98,986,031 (GRCm39)	V645E	probably damaging	Het
Memo1	A	T	17: 74,509,347 (GRCm39)	I224K	probably damaging	Het
Morc2a	T	C	11: 3,633,612 (GRCm39)	I602T	probably benign	Het
N4bp3	A	T	11: 51,536,761 (GRCm39)	F104Y	probably damaging	Het
Ndrg3	T	A	2: 156,785,957 (GRCm39)	I161F	probably damaging	Het
Notch3	T	C	17: 32,377,435 (GRCm39)	R214G	probably damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or14j10	T	C	17: 37,935,127 (GRCm39)	E133G	possibly damaging	Het
Or4p7	T	C	2: 88,221,750 (GRCm39)	I53T	probably benign	Het
Pdgfra	T	C	5: 75,328,597 (GRCm39)	V243A	probably damaging	Het
Piwil4	A	G	9: 14,611,544 (GRCm39)		probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Pon2	A	T	6: 5,266,986 (GRCm39)	N252K	possibly damaging	Het
Ptf1a	T	C	2: 19,450,718 (GRCm39)	F16S	probably damaging	Het
Rasgrp1	A	G	2: 117,122,293 (GRCm39)	Y366H	probably benign	Het
Rbfox1	G	A	16: 7,225,892 (GRCm39)	V353I	possibly damaging	Het
Rrh	T	C	3: 129,605,360 (GRCm39)	Y110C	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Scaf4	T	A	16: 90,057,105 (GRCm39)	D82V	unknown	Het
Serhl	C	A	15: 82,988,604 (GRCm39)	P177Q	probably damaging	Het
Setdb1	A	G	3: 95,246,065 (GRCm39)	V619A	probably damaging	Het
Sf3b3	A	G	8: 111,538,652 (GRCm39)	S1123P	probably damaging	Het
Slf2	A	G	19: 44,930,773 (GRCm39)	I617V	probably benign	Het
Snrnp200	T	A	2: 127,063,802 (GRCm39)	D660E	probably damaging	Het
Spata22	T	A	11: 73,236,713 (GRCm39)	F340I	probably damaging	Het
Speer4e1	T	A	5: 14,984,939 (GRCm39)	E206D	possibly damaging	Het
Stard6	T	A	18: 70,633,557 (GRCm39)	M188K	probably damaging	Het
Stat6	G	A	10: 127,488,091 (GRCm39)	V282I	possibly damaging	Het
Supt20	T	C	3: 54,616,501 (GRCm39)	S253P	possibly damaging	Het
Szt2	A	C	4: 118,240,231 (GRCm39)		probably null	Het
Thsd4	C	A	9: 60,301,670 (GRCm39)	K208N	probably benign	Het
Thsd7b	C	T	1: 130,145,855 (GRCm39)	Q1588*	probably null	Het
Tmem167	C	T	13: 90,252,499 (GRCm39)	R52C	probably benign	Het
Ttn	T	C	2: 76,729,753 (GRCm39)		probably benign	Het
Usp39	G	A	6: 72,315,372 (GRCm39)		probably benign	Het
Vmn2r112	T	A	17: 22,822,096 (GRCm39)	V258E	probably damaging	Het
Vmn2r24	C	T	6: 123,755,984 (GRCm39)	Q19*	probably null	Het
Vps13b	G	A	15: 35,910,450 (GRCm39)	E3405K	probably benign	Het
Zgrf1	A	G	3: 127,407,024 (GRCm39)	D1597G	probably damaging	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
R0312:Slc1a3	UTSW	15	8,665,721 (GRCm39)	missense	probably benign	0.00
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
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'- AGTGTGTCTTCTGCAAGCCC -3'
(R):5'- GACCATTAAGTCAGCGAATTGTTTG -3'

Sequencing Primer
(F):5'- CCACTAGGCTGATACCATTCTAG -3'
(R):5'- ATTCCCATTCTTCTAAGGCAGG -3'

Posted On

2015-01-23