Mutagenetix > Incidental Mutation

Incidental Mutation 'R6153:Slc1a1'

489418

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

044300-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6153 (G1)

Quality Score

222.009

Status

Validated

Chromosome

Chromosomal Location

28812535-28891360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28886935 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 432 (V432A)

Ref Sequence

ENSEMBL: ENSMUSP00000025875 (fasta)

Gene Model

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

AlphaFold

P51906

Predicted Effect

probably damaging
Transcript: ENSMUST00000025875
AA Change: V432A

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025875
Gene: ENSMUSG00000024935
AA Change: V432A

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

possibly damaging
Transcript: ENSMUST00000179171
AA Change: T17A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137486
Gene: ENSMUSG00000064202
AA Change: T17A

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

Meta Mutation Damage Score

0.6103

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.3%

Validation Efficiency

99% (66/67)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,251,259 (GRCm39)		probably null	Het
Ache	T	C	5: 137,290,117 (GRCm39)	I394T	probably damaging	Het
Acsm1	G	A	7: 119,232,289 (GRCm39)	G62D	probably damaging	Het
Actrt3	T	A	3: 30,653,899 (GRCm39)	I34F	probably damaging	Het
Adgrf5	T	C	17: 43,761,974 (GRCm39)	I1223T	possibly damaging	Het
Adora2a	T	C	10: 75,161,981 (GRCm39)	F40S	possibly damaging	Het
Ano8	T	C	8: 71,933,441 (GRCm39)		probably benign	Het
Arid1b	T	A	17: 5,293,107 (GRCm39)	L675Q	probably damaging	Het
Atg2b	T	C	12: 105,589,741 (GRCm39)	I1837V	possibly damaging	Het
Atp10b	A	G	11: 43,145,109 (GRCm39)	Y1284C	probably damaging	Het
B3gnt7	G	T	1: 86,233,237 (GRCm39)	G44V	probably damaging	Het
Chrna1	G	T	2: 73,403,653 (GRCm39)	H99N	probably benign	Het
Cnksr1	T	C	4: 133,961,204 (GRCm39)	H220R	probably damaging	Het
Cpsf2	T	A	12: 101,965,619 (GRCm39)		probably null	Het
Daglb	T	C	5: 143,489,096 (GRCm39)	L651P	probably benign	Het
Ddx60	A	G	8: 62,398,974 (GRCm39)	D231G	possibly damaging	Het
Ehd4	A	C	2: 119,932,904 (GRCm39)	F174C	probably damaging	Het
Emsy	G	T	7: 98,260,060 (GRCm39)	P9T	probably damaging	Het
Fnbp1l	T	C	3: 122,352,805 (GRCm39)	E217G	probably benign	Het
Gm11596	A	T	11: 99,683,524 (GRCm39)	C199S	unknown	Het
Gmps	T	G	3: 63,908,964 (GRCm39)	C489G	probably benign	Het
Gpsm1	T	C	2: 26,215,425 (GRCm39)	Y296H	probably benign	Het
Heatr5b	T	C	17: 79,138,870 (GRCm39)	T91A	possibly damaging	Het
Hs3st3b1	A	T	11: 63,780,324 (GRCm39)	W268R	probably damaging	Het
Il27ra	T	C	8: 84,758,773 (GRCm39)		probably null	Het
Itga5	T	A	15: 103,265,880 (GRCm39)	I156F	probably damaging	Het
Kcnmb3	T	A	3: 32,527,976 (GRCm39)	D96V	probably damaging	Het
Khdrbs1	T	A	4: 129,609,965 (GRCm39)	N417Y	probably damaging	Het
Loxhd1	A	G	18: 77,383,454 (GRCm39)	N118D	possibly damaging	Het
Mdm4	A	G	1: 132,919,845 (GRCm39)	L341P	probably damaging	Het
Mecom	T	C	3: 30,047,797 (GRCm39)	E225G	possibly damaging	Het
Megf8	G	A	7: 25,046,796 (GRCm39)	G1560S	possibly damaging	Het
Mfsd13a	A	T	19: 46,356,321 (GRCm39)	D142V	probably damaging	Het
Muc5b	A	T	7: 141,415,181 (GRCm39)	Y2709F	possibly damaging	Het
Nelfa	A	T	5: 34,056,223 (GRCm39)	I480N	probably damaging	Het
Or10ak8	G	A	4: 118,773,944 (GRCm39)	S240F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Palld	G	T	8: 62,003,186 (GRCm39)	N304K	probably damaging	Het
Pcsk5	A	G	19: 17,488,856 (GRCm39)	L988P	probably damaging	Het
Prmt1	A	T	7: 44,631,251 (GRCm39)	F34I	probably damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Ralb	A	T	1: 119,405,870 (GRCm39)		probably null	Het
Robo2	T	A	16: 73,717,617 (GRCm39)	D141V	probably damaging	Het
Rsrc1	T	C	3: 67,262,895 (GRCm39)	I283T	probably benign	Het
Sec62	A	T	3: 30,864,631 (GRCm39)	K165M	unknown	Het
Sez6	A	G	11: 77,868,648 (GRCm39)	D974G	probably damaging	Het
Shc2	T	A	10: 79,465,752 (GRCm39)	I187F	possibly damaging	Het
Shroom3	G	A	5: 93,112,267 (GRCm39)	R1876Q	probably damaging	Het
Siglecg	C	A	7: 43,061,441 (GRCm39)	N481K	possibly damaging	Het
Skil	T	A	3: 31,152,002 (GRCm39)	F175I	probably damaging	Het
Slit3	G	T	11: 35,591,310 (GRCm39)	G1374V	possibly damaging	Het
Snx14	T	C	9: 88,273,859 (GRCm39)	Y644C	probably damaging	Het
Snx33	T	A	9: 56,833,983 (GRCm39)	I29F	possibly damaging	Het
Sos1	T	A	17: 80,756,764 (GRCm39)	I263L	probably benign	Het
Susd2	C	T	10: 75,473,853 (GRCm39)	A581T	probably damaging	Het
Tbpl2	C	A	2: 23,966,028 (GRCm39)	V320F	probably damaging	Het
Tmem209	A	G	6: 30,505,794 (GRCm39)	S171P	probably benign	Het
Tprkb	T	A	6: 85,893,172 (GRCm39)		probably null	Het
Tspan11	G	A	6: 127,916,061 (GRCm39)	S119N	probably benign	Het
Ulk2	A	T	11: 61,672,572 (GRCm39)	V922D	probably damaging	Het
Zfp267	A	G	3: 36,219,303 (GRCm39)	H442R	possibly damaging	Het
Zfp976	A	C	7: 42,263,610 (GRCm39)	Y76D	probably damaging	Het
Zkscan2	G	A	7: 123,088,993 (GRCm39)	T426I	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
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
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'- TGTAACAGCAGCCATGGAGC -3'
(R):5'- CCCCTGCTGAAGTTATGAAGAG -3'

Sequencing Primer
(F):5'- CATGGAGCCTGTGTCATACCTGAG -3'
(R):5'- GCAGTAACAGACAATGCG -3'

Posted On

2017-10-10