Mutagenetix > Incidental Mutation

Incidental Mutation 'R2516:Slc1a1'

253877

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

040420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2516 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28812535-28891360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28870312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 104 (I104F)

Ref Sequence

ENSEMBL: ENSMUSP00000025875 (fasta)

Gene Model

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

AlphaFold

P51906

Predicted Effect

probably benign
Transcript: ENSMUST00000025875
AA Change: I104F

PolyPhen 2 Score 0.308 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: I104F

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: ENSMUST00000179171

SMART Domains

Protein: ENSMUSP00000137486
Gene: ENSMUSG00000064202

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

Meta Mutation Damage Score

0.2754

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of 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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,159,673 (GRCm39)	I6N	possibly damaging	Het
Aen	T	C	7: 78,555,616 (GRCm39)	V188A	probably damaging	Het
Afg3l1	A	G	8: 124,228,693 (GRCm39)	E753G	probably damaging	Het
Alas1	G	A	9: 106,115,859 (GRCm39)	T385I	probably damaging	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankrd65	A	G	4: 155,875,868 (GRCm39)	T30A	possibly damaging	Het
App	T	C	16: 84,775,117 (GRCm39)	S582G	probably damaging	Het
Arfgef1	A	T	1: 10,223,879 (GRCm39)	V1473E	possibly damaging	Het
Arhgap21	G	A	2: 20,859,809 (GRCm39)	P1196S	probably damaging	Het
Arhgap24	A	G	5: 103,039,776 (GRCm39)	T238A	probably benign	Het
Atf7	T	C	15: 102,437,439 (GRCm39)		probably benign	Het
Best1	G	T	19: 9,970,675 (GRCm39)	S55*	probably null	Het
Capn11	A	G	17: 45,944,725 (GRCm39)	V514A	probably damaging	Het
Cep104	T	A	4: 154,073,603 (GRCm39)	M52K	probably damaging	Het
Clca3a1	C	T	3: 144,443,619 (GRCm39)		probably null	Het
Cyp3a25	T	C	5: 145,939,837 (GRCm39)		probably null	Het
Dmxl2	G	A	9: 54,307,378 (GRCm39)	P2197S	probably damaging	Het
Drosha	T	C	15: 12,859,551 (GRCm39)		probably null	Het
Exosc9	A	G	3: 36,617,311 (GRCm39)	K355R	probably benign	Het
Fut1	A	C	7: 45,268,622 (GRCm39)	H192P	probably benign	Het
Gm572	T	A	4: 148,748,841 (GRCm39)	V166D	possibly damaging	Het
Gm9966	C	T	7: 95,607,735 (GRCm39)	P19S	unknown	Het
Gmds	C	T	13: 32,284,456 (GRCm39)	V219I	probably damaging	Het
Gsn	G	A	2: 35,173,965 (GRCm39)	E25K	probably benign	Het
Il4i1	T	C	7: 44,489,315 (GRCm39)	F368S	probably damaging	Het
Irak1bp1	T	C	9: 82,712,373 (GRCm39)	L98P	probably damaging	Het
Khdrbs3	T	C	15: 68,896,544 (GRCm39)		probably benign	Het
Kndc1	T	C	7: 139,501,738 (GRCm39)	I925T	probably damaging	Het
Laptm4a	T	C	12: 8,988,151 (GRCm39)	I296T	probably benign	Het
Lpl	A	T	8: 69,340,170 (GRCm39)	H55L	probably benign	Het
Lrrk2	C	A	15: 91,640,130 (GRCm39)	N1558K	probably benign	Het
Mfsd2a	A	G	4: 122,844,280 (GRCm39)	L289P	probably damaging	Het
Mmrn2	T	A	14: 34,120,759 (GRCm39)	M543K	probably benign	Het
Mnat1	T	C	12: 73,228,550 (GRCm39)		probably benign	Het
Msto1	A	T	3: 88,819,200 (GRCm39)		probably null	Het
Mtus1	A	G	8: 41,535,776 (GRCm39)	Y647H	probably damaging	Het
Nars1	A	T	18: 64,638,087 (GRCm39)	V289E	probably damaging	Het
Oit3	T	A	10: 59,264,167 (GRCm39)	K322N	probably damaging	Het
Oit3	G	A	10: 59,277,507 (GRCm39)		probably benign	Het
Or4k1	T	C	14: 50,377,440 (GRCm39)	I219V	probably benign	Het
Or5b113	T	A	19: 13,342,557 (GRCm39)	C188*	probably null	Het
Or5m12	A	G	2: 85,734,900 (GRCm39)	I166T	probably benign	Het
Or6c211	G	A	10: 129,506,155 (GRCm39)	R78W	probably damaging	Het
Pecr	A	T	1: 72,316,469 (GRCm39)	C79S	probably damaging	Het
Plekhn1	T	C	4: 156,307,116 (GRCm39)	D478G	probably damaging	Het
Pls1	A	T	9: 95,658,616 (GRCm39)	M264K	probably benign	Het
Ptprj	C	A	2: 90,305,340 (GRCm39)		probably benign	Het
Pygm	A	G	19: 6,447,631 (GRCm39)	D646G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn8a	T	C	15: 100,867,043 (GRCm39)	V283A	probably benign	Het
Shisa5	T	C	9: 108,885,575 (GRCm39)		probably null	Het
Slc10a4	A	G	5: 73,165,848 (GRCm39)	I246V	possibly damaging	Het
Slc22a8	A	G	19: 8,587,559 (GRCm39)	Y511C	probably benign	Het
Slc6a5	A	G	7: 49,606,210 (GRCm39)	N706S	probably benign	Het
Sos2	T	C	12: 69,697,433 (GRCm39)	K96E	probably damaging	Het
Stom	G	A	2: 35,205,977 (GRCm39)	R251*	probably null	Het
Sycp1	T	C	3: 102,752,382 (GRCm39)	E800G	probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tiam2	G	A	17: 3,503,657 (GRCm39)	V945I	probably damaging	Het
Trpm5	G	T	7: 142,628,254 (GRCm39)	P1007Q	probably damaging	Het
Uchl1	T	G	5: 66,839,956 (GRCm39)	I139S	probably damaging	Het
Vmn1r232	A	G	17: 21,134,288 (GRCm39)	I104T	possibly damaging	Het
Vmn2r97	G	A	17: 19,167,814 (GRCm39)	M689I	probably benign	Het
Zc3h18	A	T	8: 123,129,904 (GRCm39)		probably benign	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp456	T	C	13: 67,510,491 (GRCm39)	K99R	probably benign	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
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'- GTAGCTGCAGAGAAGACACC -3'
(R):5'- CGGCACAGAAATGTCAAAATTC -3'

Sequencing Primer
(F):5'- GACACCAGCTTTTTCTTGGGAGAAC -3'
(R):5'- GGCACAGAAATGTCAAAATTCTGTTG -3'

Posted On

2014-12-04