Mutagenetix > Incidental Mutation

Incidental Mutation 'R9513:Slc1a1'

718341

Institutional Source

Beutler Lab

Gene Symbol

Slc1a1

Ensembl Gene

ENSMUSG00000024935

Gene Name

solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

Synonyms

D130048G10Rik, EAAC1, MEAAC1, EAAT3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9513 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28812535-28891360 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 28812734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025875] [ENSMUST00000025875]

AlphaFold

P51906

Predicted Effect

probably null
Transcript: ENSMUST00000025875

SMART Domains

Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935

Domain	Start	End	E-Value	Type
Pfam:SDF	20	464	2.3e-135	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000025875

SMART Domains

Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935

Domain	Start	End	E-Value	Type
Pfam:SDF	20	464	2.3e-135	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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 the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene display reduced locomotor activity and excessive excretion of glutamate and aspartate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Accsl	T	C	2: 93,699,498 (GRCm39)		probably benign	Het
Adgrv1	T	A	13: 81,530,472 (GRCm39)	K5867N	possibly damaging	Het
Adh1	T	A	3: 137,988,571 (GRCm39)	Y181*	probably null	Het
Agbl2	T	C	2: 90,631,458 (GRCm39)	V272A	possibly damaging	Het
Akap13	T	C	7: 75,354,275 (GRCm39)	Y80H	probably benign	Het
Amotl1	A	T	9: 14,526,063 (GRCm39)	S6T	probably benign	Het
Bicd1	T	A	6: 149,414,391 (GRCm39)	V368E	probably damaging	Het
Brinp2	G	A	1: 158,074,273 (GRCm39)	T616I	probably damaging	Het
C1rl	T	A	6: 124,485,802 (GRCm39)	V391E	probably damaging	Het
Cacna1e	T	A	1: 154,318,033 (GRCm39)	I1450F	probably damaging	Het
Camk2a	A	G	18: 61,088,607 (GRCm39)		probably null	Het
Ccdc125	A	G	13: 100,826,875 (GRCm39)	E244G	probably benign	Het
Cdh23	C	T	10: 60,166,995 (GRCm39)	A1884T	probably damaging	Het
Clcn1	T	C	6: 42,282,462 (GRCm39)	I510T	probably damaging	Het
Copb1	A	T	7: 113,831,432 (GRCm39)	V572D	probably benign	Het
Ctf1	AGCAAC	A	7: 127,316,180 (GRCm39)		probably null	Het
Dnhd1	T	A	7: 105,354,179 (GRCm39)	L3053Q	probably damaging	Het
Ephb4	T	A	5: 137,361,564 (GRCm39)	H531Q	possibly damaging	Het
Fgl2	T	A	5: 21,580,790 (GRCm39)	C377*	probably null	Het
Frmd4a	T	C	2: 4,608,711 (GRCm39)	F860L	probably damaging	Het
Gbp9	T	C	5: 105,229,091 (GRCm39)	N519D	probably benign	Het
Gm1110	A	G	9: 26,795,083 (GRCm39)	S468P	possibly damaging	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gnas	T	C	2: 174,185,089 (GRCm39)	Y916H	probably damaging	Het
Hectd1	T	C	12: 51,816,079 (GRCm39)	D1336G	possibly damaging	Het
Herc2	G	T	7: 55,762,848 (GRCm39)	G859V	probably damaging	Het
Hydin	G	A	8: 111,322,114 (GRCm39)	D4589N	probably damaging	Het
Itfg1	A	T	8: 86,490,875 (GRCm39)	N351K	possibly damaging	Het
Kcnd3	G	A	3: 105,572,863 (GRCm39)		probably null	Het
Krt77	A	T	15: 101,769,779 (GRCm39)	Y364N	probably damaging	Het
Lcn4	C	T	2: 26,560,613 (GRCm39)		probably null	Het
Lrrn1	T	A	6: 107,545,505 (GRCm39)	H434Q	probably benign	Het
Lrrtm2	A	G	18: 35,346,687 (GRCm39)	I205T	probably damaging	Het
Mepce	G	C	5: 137,783,759 (GRCm39)	P189R	probably damaging	Het
Mfap1a	T	C	2: 121,330,084 (GRCm39)	K221E	probably benign	Het
Myo7a	A	G	7: 97,746,818 (GRCm39)		probably null	Het
Ncbp3	T	C	11: 72,938,727 (GRCm39)	M1T	probably null	Het
Nck1	A	T	9: 100,379,369 (GRCm39)	M294K	probably benign	Het
Nr2f2	A	T	7: 70,010,056 (GRCm39)	W8R	probably damaging	Het
Or12e10	T	A	2: 87,640,187 (GRCm39)	S8T	possibly damaging	Het
Or1e20-ps1	T	A	11: 73,324,818 (GRCm39)	Q78L	unknown	Het
Or4c12b	A	T	2: 89,647,553 (GRCm39)	R288S	probably damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or7e169	A	G	9: 19,757,816 (GRCm39)	L33P	possibly damaging	Het
Or8g18	T	C	9: 39,149,625 (GRCm39)	T32A	probably benign	Het
Or8j3c	A	T	2: 86,253,707 (GRCm39)	F104L	probably damaging	Het
Pcdha1	A	G	18: 37,065,286 (GRCm39)	K650R	probably benign	Het
Pgm1	T	A	4: 99,841,242 (GRCm39)	I532N	probably damaging	Het
Pik3c2a	T	A	7: 115,939,321 (GRCm39)	K1672N	probably benign	Het
Pou3f1	G	A	4: 124,552,835 (GRCm39)	G446S	probably benign	Het
Ppm1j	T	C	3: 104,693,134 (GRCm39)	I497T	probably damaging	Het
Pprc1	C	T	19: 46,056,500 (GRCm39)	Q1202*	probably null	Het
Pramel30	T	A	4: 144,059,678 (GRCm39)	I463N	possibly damaging	Het
Prdm15	T	C	16: 97,607,704 (GRCm39)	N713S	probably damaging	Het
Ptprb	A	G	10: 116,138,142 (GRCm39)	T62A	probably benign	Het
Rabl2	T	A	15: 89,474,631 (GRCm39)		probably null	Het
Ranbp3l	A	T	15: 9,037,176 (GRCm39)	R149*	probably null	Het
Resf1	T	A	6: 149,229,793 (GRCm39)	Y946*	probably null	Het
Rfx4	T	A	10: 84,674,050 (GRCm39)	M1K	probably null	Het
Ripk4	G	T	16: 97,547,098 (GRCm39)	S388*	probably null	Het
Rnft1	T	G	11: 86,377,065 (GRCm39)	I43R	possibly damaging	Het
Setbp1	A	T	18: 78,899,781 (GRCm39)	F1295L	probably damaging	Het
Sez6	A	G	11: 77,865,409 (GRCm39)	D682G	probably damaging	Het
Slc7a5	G	T	8: 122,613,616 (GRCm39)	T312K	probably benign	Het
Slco4c1	A	T	1: 96,799,643 (GRCm39)	N64K	probably benign	Het
Spata13	C	T	14: 60,929,849 (GRCm39)	T469I	probably benign	Het
Stxbp5	T	A	10: 9,687,754 (GRCm39)	N440I	probably benign	Het
Tas2r114	T	A	6: 131,666,746 (GRCm39)	Q94L	probably benign	Het
Tasor	T	A	14: 27,186,271 (GRCm39)	C823*	probably null	Het
Tfr2	A	G	5: 137,575,769 (GRCm39)	D295G	possibly damaging	Het
Thap7	A	G	16: 17,348,152 (GRCm39)	Y60H	probably damaging	Het
Tjap1	G	T	17: 46,569,733 (GRCm39)	P409H	probably damaging	Het
Tmtc4	G	A	14: 123,209,204 (GRCm39)	A147V	probably benign	Het
Tpp2	T	A	1: 44,017,648 (GRCm39)	S751T	probably benign	Het
Tpra1	T	C	6: 88,887,221 (GRCm39)	V193A	probably benign	Het
Trafd1	T	C	5: 121,516,837 (GRCm39)	N122S	possibly damaging	Het
Vmn1r151	T	A	7: 22,199,096 (GRCm39)	D3V	probably benign	Het
Wdr20rt	A	G	12: 65,272,825 (GRCm39)	Y96C	probably damaging	Het
Zfp507	A	G	7: 35,475,573 (GRCm39)	V880A	probably benign	Het
Zfp598	A	G	17: 24,896,568 (GRCm39)	D215G	probably damaging	Het
Zfp7	T	C	15: 76,775,484 (GRCm39)	S509P	probably damaging	Het
Zfp738	A	T	13: 67,817,635 (GRCm39)	C785*	probably null	Het
Zfp985	C	T	4: 147,667,999 (GRCm39)	T289I	probably damaging	Het
Zkscan6	T	A	11: 65,712,795 (GRCm39)	Y243N	probably damaging	Het

Other mutations in Slc1a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02170:Slc1a1	APN	19	28,880,153 (GRCm39)	missense	possibly damaging	0.66
IGL02726:Slc1a1	APN	19	28,889,169 (GRCm39)	missense	probably benign	0.04
IGL02865:Slc1a1	APN	19	28,882,738 (GRCm39)	missense	probably damaging	1.00
R0008:Slc1a1	UTSW	19	28,878,884 (GRCm39)	missense	probably benign	0.01
R0008:Slc1a1	UTSW	19	28,878,884 (GRCm39)	missense	probably benign	0.01
R0490:Slc1a1	UTSW	19	28,874,931 (GRCm39)	missense	probably benign
R1219:Slc1a1	UTSW	19	28,882,146 (GRCm39)	splice site	probably benign
R1333:Slc1a1	UTSW	19	28,812,611 (GRCm39)	start gained	probably benign
R1623:Slc1a1	UTSW	19	28,882,122 (GRCm39)	missense	probably benign	0.09
R1669:Slc1a1	UTSW	19	28,889,194 (GRCm39)	missense	probably benign	0.04
R1746:Slc1a1	UTSW	19	28,871,869 (GRCm39)	missense	probably benign	0.31
R2516:Slc1a1	UTSW	19	28,870,312 (GRCm39)	missense	probably benign	0.31
R4198:Slc1a1	UTSW	19	28,878,852 (GRCm39)	missense	probably benign	0.00
R4199:Slc1a1	UTSW	19	28,878,852 (GRCm39)	missense	probably benign	0.00
R4200:Slc1a1	UTSW	19	28,878,852 (GRCm39)	missense	probably benign	0.00
R4432:Slc1a1	UTSW	19	28,880,109 (GRCm39)	missense	probably benign	0.21
R4744:Slc1a1	UTSW	19	28,871,925 (GRCm39)	missense	probably benign
R5110:Slc1a1	UTSW	19	28,889,208 (GRCm39)	missense	probably benign	0.14
R5341:Slc1a1	UTSW	19	28,874,968 (GRCm39)	missense	probably benign
R6136:Slc1a1	UTSW	19	28,882,810 (GRCm39)	missense	probably damaging	1.00
R6153:Slc1a1	UTSW	19	28,886,935 (GRCm39)	missense	probably damaging	0.98
R6640:Slc1a1	UTSW	19	28,871,970 (GRCm39)	critical splice donor site	probably null
R7950:Slc1a1	UTSW	19	28,889,161 (GRCm39)	missense	probably benign	0.00
R8182:Slc1a1	UTSW	19	28,878,848 (GRCm39)	missense	probably benign	0.07
R8534:Slc1a1	UTSW	19	28,882,746 (GRCm39)	missense	probably damaging	1.00
R8962:Slc1a1	UTSW	19	28,886,869 (GRCm39)	missense	probably damaging	1.00
R9222:Slc1a1	UTSW	19	28,882,794 (GRCm39)	missense	probably benign	0.12
R9383:Slc1a1	UTSW	19	28,889,125 (GRCm39)	missense	probably benign	0.01
R9655:Slc1a1	UTSW	19	28,870,283 (GRCm39)	missense	probably damaging	0.98
R9773:Slc1a1	UTSW	19	28,870,283 (GRCm39)	missense	probably damaging	0.98
R9774:Slc1a1	UTSW	19	28,870,283 (GRCm39)	missense	probably damaging	0.98
RF020:Slc1a1	UTSW	19	28,856,555 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCGTAGTGGGTCAGAAGCTC -3'
(R):5'- GCGCCCTCTGATCATTTTGG -3'

Sequencing Primer
(F):5'- TCAGAAGCTCCTCGGTGG -3'
(R):5'- CGCCCTCTGATCATTTTGGAGAAAG -3'

Posted On

2022-07-18