Mutagenetix > Incidental Mutation

Incidental Mutation 'R0385:Slc1a3'

31255

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

038591-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0385 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8663608-8740248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 8668619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 449 (V449I)

Ref Sequence

ENSEMBL: ENSMUSP00000005493 (fasta)

Gene Model

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

AlphaFold

P56564

Predicted Effect

probably damaging
Transcript: ENSMUST00000005493
AA Change: V449I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: V449I

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

1x: 99.2%
3x: 98.2%
10x: 96.0%
20x: 92.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,122,574 (GRCm39)	N331S	probably benign	Het
Adk	A	G	14: 21,368,142 (GRCm39)	N189S	probably benign	Het
Apc	T	A	18: 34,448,997 (GRCm39)	N1930K	probably damaging	Het
Arhgap28	T	C	17: 68,171,601 (GRCm39)	D391G	probably damaging	Het
Atn1	G	T	6: 124,720,334 (GRCm39)		probably benign	Het
C2cd5	T	C	6: 142,987,216 (GRCm39)	E471G	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cap2	T	C	13: 46,714,023 (GRCm39)	L34P	probably damaging	Het
Cdc42ep2	T	A	19: 5,968,553 (GRCm39)	M51L	probably benign	Het
Cntn5	C	T	9: 9,972,875 (GRCm39)	A254T	probably damaging	Het
Dicer1	A	T	12: 104,670,433 (GRCm39)	L1044H	probably damaging	Het
Dkk3	A	C	7: 111,757,430 (GRCm39)	M58R	probably damaging	Het
Dpy19l3	G	A	7: 35,452,130 (GRCm39)	R5W	probably damaging	Het
Dsg1c	C	T	18: 20,416,711 (GRCm39)	P871S	probably damaging	Het
Dusp1	A	T	17: 26,726,670 (GRCm39)	S131T	probably benign	Het
Enpp2	C	T	15: 54,745,555 (GRCm39)	G314R	probably damaging	Het
Entr1	T	C	2: 26,277,671 (GRCm39)	E41G	possibly damaging	Het
Fam222b	C	A	11: 78,045,756 (GRCm39)	P439Q	probably benign	Het
Fastkd2	A	T	1: 63,776,970 (GRCm39)	I369F	probably benign	Het
Fdps	G	A	3: 89,002,201 (GRCm39)	S205F	probably damaging	Het
Fmo1	A	T	1: 162,663,773 (GRCm39)	V252E	possibly damaging	Het
Frmd5	A	G	2: 121,386,055 (GRCm39)	Y230H	probably damaging	Het
Gal	C	T	19: 3,461,171 (GRCm39)	V88I	probably benign	Het
Gnptab	T	C	10: 88,272,387 (GRCm39)	I1009T	probably damaging	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Klhdc7a	A	T	4: 139,694,016 (GRCm39)	D310E	probably benign	Het
Klk4	T	C	7: 43,533,432 (GRCm39)	M97T	probably benign	Het
Krt82	C	T	15: 101,454,028 (GRCm39)	V227M	probably damaging	Het
Lpp	T	C	16: 24,580,587 (GRCm39)	V226A	probably damaging	Het
Mbd1	AGCTGACTCGGTAC	A	18: 74,406,312 (GRCm39)		probably null	Het
Mcm10	T	C	2: 5,008,965 (GRCm39)	K335E	possibly damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Myb	T	C	10: 21,030,611 (GRCm39)	D62G	possibly damaging	Het
Nasp	A	T	4: 116,467,892 (GRCm39)	N364K	probably benign	Het
Npsr1	A	G	9: 24,224,573 (GRCm39)	N317D	probably damaging	Het
Nup210	A	G	6: 91,005,777 (GRCm39)	V619A	possibly damaging	Het
Oser1	C	T	2: 163,253,316 (GRCm39)		probably null	Het
Pcdhb4	T	C	18: 37,442,268 (GRCm39)	F526S	probably damaging	Het
Plekhh3	T	C	11: 101,055,967 (GRCm39)	N444S	probably damaging	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Pou2f2	G	A	7: 24,815,501 (GRCm39)	Q89*	probably null	Het
Ptprb	A	G	10: 116,186,083 (GRCm39)	I1713V	probably benign	Het
Ptprd	A	G	4: 76,046,902 (GRCm39)	Y442H	probably damaging	Het
Rad21	A	T	15: 51,837,259 (GRCm39)	I152N	possibly damaging	Het
Ralgapa1	A	G	12: 55,723,823 (GRCm39)	S1568P	probably damaging	Het
Rhag	T	A	17: 41,145,618 (GRCm39)	V357E	probably damaging	Het
Rnf121	A	T	7: 101,678,324 (GRCm39)	D174E	possibly damaging	Het
Sf3b4	T	C	3: 96,080,298 (GRCm39)	Y16H	probably damaging	Het
Slc20a2	A	G	8: 23,058,409 (GRCm39)	I648M	probably benign	Het
Slc25a25	T	A	2: 32,307,834 (GRCm39)	I254F	probably damaging	Het
Slit3	A	G	11: 35,591,109 (GRCm39)	H1307R	probably damaging	Het
Sorl1	C	A	9: 41,943,205 (GRCm39)	M890I	probably damaging	Het
Supt16	A	C	14: 52,414,175 (GRCm39)	M468R	probably benign	Het
Taf4b	T	C	18: 14,916,817 (GRCm39)	S56P	probably benign	Het
Tapt1	T	C	5: 44,375,443 (GRCm39)		probably null	Het
Tmco3	T	G	8: 13,346,027 (GRCm39)	C288W	probably damaging	Het
Tpcn2	A	G	7: 144,830,911 (GRCm39)	Y145H	probably damaging	Het
Ttn	C	T	2: 76,712,061 (GRCm39)		probably benign	Het
Usb1	G	T	8: 96,071,946 (GRCm39)	W215C	probably damaging	Het
Usp2	C	G	9: 44,004,047 (GRCm39)	T305R	probably damaging	Het
Vmn1r13	G	A	6: 57,187,690 (GRCm39)	S283N	probably benign	Het
Vps54	A	G	11: 21,256,381 (GRCm39)	K467E	possibly damaging	Het
Wnk2	G	T	13: 49,221,604 (GRCm39)	S1121Y	probably damaging	Het
Zbed6	A	T	1: 133,584,522 (GRCm39)	D938E	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
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'- TCTGCAAGCCCACTAGGCTGATAC -3'
(R):5'- AAAGCTCAAGTTCACCTCTCAGTTCC -3'

Sequencing Primer
(F):5'- GCCCACTAGGCTGATACCATTC -3'
(R):5'- ctaccacagagtcacatccc -3'

Posted On

2013-04-24