Mutagenetix > Incidental Mutation

Incidental Mutation 'R7168:Slc1a3'

558082

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

045263-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7168 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8663608-8740248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 8675386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 206 (N206K)

Ref Sequence

ENSEMBL: ENSMUSP00000005493 (fasta)

Gene Model

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

AlphaFold

P56564

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005493
AA Change: N206K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000005493
Gene: ENSMUSG00000005360
AA Change: N206K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,262,831 (GRCm39)	D1388V	probably damaging	Het
2900026A02Rik	C	A	5: 113,285,659 (GRCm39)	R65L	probably damaging	Het
Abcb10	A	T	8: 124,693,350 (GRCm39)	L318Q		Het
Abhd18	T	A	3: 40,889,371 (GRCm39)	V417D	probably damaging	Het
Actl7a	A	G	4: 56,743,769 (GRCm39)	K99E	probably benign	Het
Adam2	A	T	14: 66,296,241 (GRCm39)	I206N	possibly damaging	Het
Adgrv1	G	T	13: 81,545,328 (GRCm39)	S5652R	possibly damaging	Het
Aebp2	C	T	6: 140,579,426 (GRCm39)	T221M	probably damaging	Het
Ahi1	T	A	10: 20,893,831 (GRCm39)	M854K	probably benign	Het
Alpi	T	A	1: 87,027,155 (GRCm39)	T375S	possibly damaging	Het
Apip	T	A	2: 102,922,813 (GRCm39)	C210*	probably null	Het
Arid3b	A	T	9: 57,712,818 (GRCm39)	D232E	probably benign	Het
Asic5	G	A	3: 81,919,282 (GRCm39)	C342Y	probably damaging	Het
BC035947	T	C	1: 78,476,230 (GRCm39)	M101V	probably benign	Het
Brd3	G	A	2: 27,344,411 (GRCm39)	R440C	possibly damaging	Het
Deaf1	C	T	7: 140,904,509 (GRCm39)		probably benign	Het
Eif2ak3	A	G	6: 70,858,610 (GRCm39)	T300A	probably benign	Het
Eml6	T	A	11: 29,788,529 (GRCm39)	I519F	probably benign	Het
Fat4	T	C	3: 39,034,808 (GRCm39)	F2820S	probably damaging	Het
Fcho2	A	G	13: 98,925,971 (GRCm39)	I132T	probably benign	Het
Garnl3	A	G	2: 32,885,090 (GRCm39)	V810A	probably damaging	Het
Gm14403	A	C	2: 177,201,318 (GRCm39)	Q179P	probably damaging	Het
Gm3127	A	G	14: 15,432,250 (GRCm39)	M251V	probably benign	Het
Hook3	A	G	8: 26,561,114 (GRCm39)	S298P	probably benign	Het
Impact	T	A	18: 13,119,370 (GRCm39)		probably null	Het
Itgal	T	C	7: 126,929,385 (GRCm39)	F1101L	probably benign	Het
Itih1	C	T	14: 30,656,064 (GRCm39)	R579Q	probably null	Het
Kansl2	T	C	15: 98,427,425 (GRCm39)		probably null	Het
Kng1	A	G	16: 22,898,391 (GRCm39)	D597G	probably benign	Het
Kpna1	A	G	16: 35,836,332 (GRCm39)		probably benign	Het
Lama2	C	T	10: 27,242,148 (GRCm39)		probably null	Het
Ltbp1	G	T	17: 75,598,361 (GRCm39)	C614F	probably damaging	Het
Luc7l3	T	C	11: 94,190,810 (GRCm39)	E168G	unknown	Het
Lvrn	A	C	18: 47,014,389 (GRCm39)	K525T	probably benign	Het
Mdn1	G	A	4: 32,719,184 (GRCm39)	R2249H	probably damaging	Het
Mmp16	G	T	4: 18,110,550 (GRCm39)	G449C	probably damaging	Het
Mst1r	T	C	9: 107,785,392 (GRCm39)	V350A	probably benign	Het
Muc5b	A	G	7: 141,417,754 (GRCm39)	M3567V	probably benign	Het
Mybl1	A	T	1: 9,748,513 (GRCm39)	L361Q	probably damaging	Het
Myom1	T	A	17: 71,396,942 (GRCm39)	S1063R	probably benign	Het
Notch4	A	C	17: 34,791,667 (GRCm39)	H582P	probably benign	Het
Nwd2	T	A	5: 63,964,837 (GRCm39)	C1474S	probably benign	Het
Or10ak14	A	T	4: 118,611,048 (GRCm39)	I231N	probably damaging	Het
Or4g17	A	T	2: 111,210,224 (GRCm39)	D293V	probably damaging	Het
Or5d36	A	C	2: 87,900,921 (GRCm39)	N268K	probably benign	Het
Or8b40	G	T	9: 38,027,959 (GRCm39)	S294I	probably damaging	Het
Pcmt1	A	T	10: 7,513,946 (GRCm39)	V241D	probably damaging	Het
Plcl1	T	A	1: 55,736,622 (GRCm39)	N654K	probably damaging	Het
Plg	G	A	17: 12,607,446 (GRCm39)	G121D	probably damaging	Het
Ptch1	A	G	13: 63,659,874 (GRCm39)	S1260P	probably benign	Het
Pwp1	G	T	10: 85,720,401 (GRCm39)	R346I	probably damaging	Het
R3hdm1	C	T	1: 128,144,232 (GRCm39)	T800I	probably benign	Het
Rab3gap2	A	G	1: 184,936,494 (GRCm39)	D19G	possibly damaging	Het
Resf1	T	G	6: 149,229,341 (GRCm39)	F796V	probably benign	Het
Slc6a3	T	C	13: 73,719,591 (GRCm39)	V540A	probably benign	Het
Sntb1	G	A	15: 55,654,661 (GRCm39)	P265S	probably benign	Het
Timm29	T	C	9: 21,504,749 (GRCm39)	V139A	probably damaging	Het
Tktl2	A	G	8: 66,965,753 (GRCm39)	E437G	probably damaging	Het
Tm2d3	T	A	7: 65,343,674 (GRCm39)	V56E	probably benign	Het
Trhr2	T	A	8: 123,087,276 (GRCm39)	T55S	probably damaging	Het
Trim17	T	G	11: 58,859,404 (GRCm39)	V206G	probably benign	Het
Trpm1	A	G	7: 63,918,445 (GRCm39)	N1479S	probably benign	Het
Trpv2	T	A	11: 62,473,914 (GRCm39)	C190S	probably benign	Het
Umod	A	T	7: 119,077,549 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,414,585 (GRCm39)	Y2862N		Het
Vmn1r158	A	G	7: 22,490,101 (GRCm39)	V36A	possibly damaging	Het
Zfp420	A	G	7: 29,574,791 (GRCm39)	Y337C	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
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
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'- AGAACTCTCTCAGCGCTTGC -3'
(R):5'- TGCTGAGTCTAACATCTTCAGC -3'

Sequencing Primer
(F):5'- CTCAGCGCTTGCCCCTG -3'
(R):5'- TGAGTCTAACATCTTCAGCCAGATC -3'

Posted On

2019-06-26