Mutagenetix > Incidental Mutation

Incidental Mutation 'R1623:Slc1a1'

174843

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

039660-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1623 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28812535-28891360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28882122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 328 (M328K)

Ref Sequence

ENSEMBL: ENSMUSP00000025875 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025875] [ENSMUST00000175647] [ENSMUST00000179171]

AlphaFold

P51906

Predicted Effect

probably benign
Transcript: ENSMUST00000025875
AA Change: M328K

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: M328K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162189

Predicted Effect

probably benign
Transcript: ENSMUST00000175647

SMART Domains

Protein: ENSMUSP00000135813
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
Pfam:SPATA6	6	78	4.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000179171

SMART Domains

Protein: ENSMUSP00000137486
Gene: ENSMUSG00000064202

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 94.9%
20x: 87.6%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	T	2: 22,984,356 (GRCm39)	D294V	probably damaging	Het
Actn2	A	T	13: 12,355,320 (GRCm39)	I21N	probably benign	Het
Adamts2	C	A	11: 50,558,942 (GRCm39)	P219H	possibly damaging	Het
Atg16l2	A	G	7: 100,939,113 (GRCm39)	F584L	probably benign	Het
Ccdc81	C	T	7: 89,535,390 (GRCm39)	R282Q	probably benign	Het
Ccn4	G	T	15: 66,763,448 (GRCm39)	V12L	possibly damaging	Het
Cd200r3	G	A	16: 44,771,811 (GRCm39)	C25Y	possibly damaging	Het
Cdkl4	C	T	17: 80,863,731 (GRCm39)		probably null	Het
Chrne	T	C	11: 70,509,254 (GRCm39)	E109G	possibly damaging	Het
Clmp	A	G	9: 40,693,856 (GRCm39)	T358A	probably benign	Het
Cmtr1	G	T	17: 29,906,021 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,699 (GRCm39)	E389G	probably damaging	Het
Ctc1	C	T	11: 68,911,968 (GRCm39)	T49M	probably damaging	Het
Cyth3	T	A	5: 143,687,127 (GRCm39)	M120K	probably damaging	Het
D430041D05Rik	T	A	2: 103,983,308 (GRCm39)	E1996V	probably damaging	Het
Dnah9	T	C	11: 65,928,463 (GRCm39)	M2069V	probably damaging	Het
Dsg1c	T	C	18: 20,408,234 (GRCm39)	Y428H	probably damaging	Het
Exosc8	T	A	3: 54,641,752 (GRCm39)	T7S	probably damaging	Het
F5	A	G	1: 164,023,191 (GRCm39)	Y1583C	probably damaging	Het
Fam178b	A	G	1: 36,683,405 (GRCm39)	I105T	probably damaging	Het
Fam181a	T	A	12: 103,282,591 (GRCm39)	Y165*	probably null	Het
Fbn2	G	T	18: 58,181,620 (GRCm39)	N1880K	possibly damaging	Het
Gbgt1	A	T	2: 28,394,988 (GRCm39)	M209L	probably benign	Het
Gkn2	C	A	6: 87,355,152 (GRCm39)	Y120*	probably null	Het
Gm14295	T	A	2: 176,499,157 (GRCm39)	D1E	probably damaging	Het
Gpr141	A	T	13: 19,936,082 (GRCm39)		probably null	Het
Gramd2b	C	A	18: 56,565,423 (GRCm39)	P26Q	probably benign	Het
Greb1	A	G	12: 16,724,771 (GRCm39)	I1801T	probably damaging	Het
Gstm3	T	A	3: 107,875,151 (GRCm39)	I64F	possibly damaging	Het
Gtse1	A	G	15: 85,751,779 (GRCm39)	Y324C	probably benign	Het
Hal	C	G	10: 93,352,159 (GRCm39)	T650R	probably benign	Het
Hdac7	G	A	15: 97,706,285 (GRCm39)	Q293*	probably null	Het
Hdlbp	A	T	1: 93,351,591 (GRCm39)	N437K	probably damaging	Het
Hif1an	A	G	19: 44,557,862 (GRCm39)	D248G	probably damaging	Het
Hivep3	T	C	4: 119,952,901 (GRCm39)	S406P	possibly damaging	Het
Hmcn2	A	T	2: 31,348,051 (GRCm39)	D4899V	possibly damaging	Het
Ikzf3	C	T	11: 98,381,157 (GRCm39)		probably null	Het
Inka2	G	A	3: 105,624,136 (GRCm39)	G151D	probably damaging	Het
Itgb4	C	A	11: 115,882,142 (GRCm39)	Y819*	probably null	Het
Itpripl1	T	C	2: 126,983,555 (GRCm39)	D189G	possibly damaging	Het
Kmt2e	A	G	5: 23,687,500 (GRCm39)	Y450C	probably damaging	Het
Mc4r	A	G	18: 66,993,068 (GRCm39)	L15P	probably benign	Het
Mical1	T	G	10: 41,357,389 (GRCm39)		probably null	Het
Mical3	C	T	6: 121,001,768 (GRCm39)	V575M	probably damaging	Het
Mki67	A	T	7: 135,310,547 (GRCm39)		probably null	Het
Mocs2	G	A	13: 114,961,158 (GRCm39)	E52K	probably benign	Het
Myo7b	T	C	18: 32,133,104 (GRCm39)	N415S	probably damaging	Het
Notch1	G	A	2: 26,368,624 (GRCm39)	T555I	possibly damaging	Het
Notch3	T	C	17: 32,358,165 (GRCm39)	D1686G	probably benign	Het
Oit3	A	G	10: 59,264,061 (GRCm39)	F358L	probably damaging	Het
Or10x1	A	C	1: 174,196,515 (GRCm39)	I11L	probably benign	Het
Or6k4	A	T	1: 173,964,883 (GRCm39)	D191V	probably damaging	Het
Orai1	T	A	5: 123,167,265 (GRCm39)	I146N	probably damaging	Het
Pck1	A	G	2: 172,996,511 (GRCm39)	I142V	probably benign	Het
Pdap1	C	T	5: 145,069,739 (GRCm39)	V89M	possibly damaging	Het
Phf11a	T	C	14: 59,525,000 (GRCm39)	D68G	possibly damaging	Het
Pilrb2	T	C	5: 137,869,510 (GRCm39)	N30S	probably damaging	Het
Pkd1	G	A	17: 24,797,243 (GRCm39)	V2551I	probably damaging	Het
Pnpla7	T	C	2: 24,942,611 (GRCm39)	V132A	probably damaging	Het
Prr35	G	A	17: 26,166,508 (GRCm39)	P343L	probably benign	Het
Rad18	C	T	6: 112,605,480 (GRCm39)	S398N	probably damaging	Het
Rdh16f1	C	A	10: 127,626,722 (GRCm39)	N258K	probably benign	Het
Riox2	A	G	16: 59,303,405 (GRCm39)	H240R	probably damaging	Het
Ruvbl1	C	T	6: 88,462,752 (GRCm39)	A292V	probably damaging	Het
Ryr1	C	T	7: 28,794,915 (GRCm39)	G1151S	probably damaging	Het
Serpinb9b	T	C	13: 33,213,548 (GRCm39)	I35T	possibly damaging	Het
Slc7a13	A	T	4: 19,824,031 (GRCm39)	T267S	possibly damaging	Het
Speer3	G	T	5: 13,846,335 (GRCm39)	M218I	probably benign	Het
Sptan1	A	G	2: 29,876,432 (GRCm39)	I271V	probably damaging	Het
Swap70	A	G	7: 109,863,255 (GRCm39)	T195A	probably benign	Het
Tgs1	T	A	4: 3,585,964 (GRCm39)	N280K	probably benign	Het
Tonsl	A	G	15: 76,522,709 (GRCm39)	C181R	probably damaging	Het
Trdn	A	G	10: 33,134,098 (GRCm39)	K333R	possibly damaging	Het
Trpc4	T	A	3: 54,206,600 (GRCm39)	M600K	probably damaging	Het
Ubr3	C	T	2: 69,808,067 (GRCm39)	Q1183*	probably null	Het
Ubxn4	T	A	1: 128,200,588 (GRCm39)	L360I	possibly damaging	Het
Ugt2b1	T	A	5: 87,074,267 (GRCm39)	T31S	probably benign	Het
Uspl1	T	C	5: 149,152,009 (GRCm39)	S1056P	probably damaging	Het
Vmn2r60	A	T	7: 41,785,279 (GRCm39)	K164*	probably null	Het
Vwce	T	A	19: 10,624,108 (GRCm39)	L333*	probably null	Het
Wdr95	T	A	5: 149,497,581 (GRCm39)	L253Q	probably damaging	Het
Zfp113	T	C	5: 138,143,930 (GRCm39)	M107V	probably benign	Het
Zfp142	T	C	1: 74,610,934 (GRCm39)	T851A	possibly 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
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
R9513:Slc1a1	UTSW	19	28,812,734 (GRCm39)	critical splice donor site	probably null
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'- ACATCTGTTCGCTGTCAGACGC -3'
(R):5'- GAATCTTTCCTGGGTATCAGGCCAC -3'

Sequencing Primer
(F):5'- AGACGCCCCTGTCTCAC -3'
(R):5'- GGTATCAGGCCACATGGAG -3'

Posted On

2014-04-24