Mutagenetix > Incidental Mutation

Incidental Mutation 'R2073:Slc1a6'

227342

Institutional Source

Beutler Lab

Gene Symbol

Slc1a6

Ensembl Gene

ENSMUSG00000005357

Gene Name

solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6

Synonyms

EAAT4

MMRRC Submission

040078-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R2073 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78616330-78650599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78635964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 343 (V343A)

Ref Sequence

ENSEMBL: ENSMUSP00000005490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005490]

AlphaFold

O35544

Predicted Effect

possibly damaging
Transcript: ENSMUST00000005490
AA Change: V343A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: V343A

Domain	Start	End	E-Value	Type
low complexity region	27	43	N/A	INTRINSIC
Pfam:SDF	55	519	8.5e-129	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for disruptions in this gene survive well and display no obvious abnormalities of behavior or brain structure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	C	7: 130,959,242 (GRCm39)	R153G	probably benign	Het
5730596B20Rik	C	A	6: 52,155,962 (GRCm39)	Y9*	probably null	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Acot3	A	G	12: 84,100,230 (GRCm39)	H2R	possibly damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Adra1b	T	C	11: 43,726,698 (GRCm39)	N73S	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ank	T	C	15: 27,565,108 (GRCm39)	S270P	probably benign	Het
Ankle1	G	A	8: 71,861,973 (GRCm39)	R492H	possibly damaging	Het
Ankub1	G	A	3: 57,599,713 (GRCm39)	H19Y	possibly damaging	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Apaf1	G	T	10: 90,867,556 (GRCm39)	S763*	probably null	Het
Apba3	A	G	10: 81,105,128 (GRCm39)	T134A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bod1l	C	T	5: 41,976,532 (GRCm39)	S1594N	probably benign	Het
C7	T	C	15: 5,019,910 (GRCm39)	M746V	probably benign	Het
Cdkn2a	T	A	4: 89,212,730 (GRCm39)	I11F	possibly damaging	Het
Cideb	T	C	14: 55,992,617 (GRCm39)	M100V	possibly damaging	Het
Cntnap5c	T	C	17: 58,612,547 (GRCm39)	L862P	possibly damaging	Het
Coch	A	T	12: 51,649,472 (GRCm39)	D261V	probably benign	Het
Cyp2ab1	A	G	16: 20,132,639 (GRCm39)	F220L	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dgkg	A	G	16: 22,384,067 (GRCm39)	F462S	probably damaging	Het
Dlgap3	C	T	4: 127,089,159 (GRCm39)	H252Y	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnaaf6rt	A	G	1: 31,262,077 (GRCm39)	S20G	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Dync1h1	T	A	12: 110,581,026 (GRCm39)	I251N	probably damaging	Het
Eml5	A	G	12: 98,768,705 (GRCm39)	S1457P	probably damaging	Het
Fam114a1	T	A	5: 65,153,247 (GRCm39)		probably null	Het
Fcho1	A	T	8: 72,163,133 (GRCm39)	L632Q	probably damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Gm16223	T	C	5: 42,371,942 (GRCm39)	C111R	unknown	Het
H2-Q4	T	A	17: 35,599,378 (GRCm39)	S154T	possibly damaging	Het
Hhat	A	G	1: 192,409,687 (GRCm39)	F125L	possibly damaging	Het
Ier5l	T	A	2: 30,363,068 (GRCm39)	D319V	probably damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Map2k4	A	C	11: 65,584,282 (GRCm39)	F334V	probably damaging	Het
Mmp19	G	A	10: 128,630,848 (GRCm39)	R156H	probably damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nr4a1	C	A	15: 101,171,948 (GRCm39)	H541N	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or5b122	A	T	19: 13,562,965 (GRCm39)	Q99L	probably damaging	Het
Pak6	A	C	2: 118,519,332 (GRCm39)	N17T	probably damaging	Het
Pcnt	T	A	10: 76,216,214 (GRCm39)	T2225S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf21a	A	G	2: 92,178,381 (GRCm39)	D357G	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Plekhd1	A	G	12: 80,768,066 (GRCm39)	N335D	probably benign	Het
Pole	C	A	5: 110,473,417 (GRCm39)	T1737N	probably damaging	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Pramel6	G	A	2: 87,339,088 (GRCm39)	S96N	probably damaging	Het
Prdm14	A	C	1: 13,195,954 (GRCm39)	Y36D	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rfc1	A	T	5: 65,459,282 (GRCm39)	D225E	probably damaging	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Setd6	G	A	8: 96,443,416 (GRCm39)	V60M	probably damaging	Het
Sgk3	A	G	1: 9,961,649 (GRCm39)	I432V	probably benign	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc43a3	T	C	2: 84,774,956 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Smg6	C	G	11: 74,821,120 (GRCm39)	P464A	probably damaging	Het
Sox11	T	C	12: 27,392,278 (GRCm39)	T44A	possibly damaging	Het
Spata22	A	G	11: 73,227,052 (GRCm39)	R89G	possibly damaging	Het
Spmip6	A	G	4: 41,507,519 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syne2	A	G	12: 76,062,353 (GRCm39)	D4226G	possibly damaging	Het
Tecpr2	T	C	12: 110,934,863 (GRCm39)	S1370P	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Trib1	T	A	15: 59,526,189 (GRCm39)	I253N	probably damaging	Het
Triobp	G	T	15: 78,858,095 (GRCm39)	G1232V	probably damaging	Het
Trpm6	G	A	19: 18,853,406 (GRCm39)	V1809M	probably damaging	Het
Tsc22d4	A	G	5: 137,760,749 (GRCm39)	K57E	possibly damaging	Het
Vmn2r109	T	A	17: 20,784,974 (GRCm39)	K15N	probably benign	Het
Wnt9a	A	G	11: 59,222,055 (GRCm39)	N318D	probably damaging	Het
Wwp1	A	G	4: 19,662,181 (GRCm39)	V138A	possibly damaging	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp715	T	A	7: 42,960,544 (GRCm39)	T16S	probably benign	Het
Zfp932	A	G	5: 110,157,684 (GRCm39)	T461A	possibly damaging	Het
Zscan29	A	T	2: 120,991,336 (GRCm39)	C817*	probably null	Het

Other mutations in Slc1a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Slc1a6	APN	10	78,637,647 (GRCm39)	missense	probably damaging	1.00
IGL00496:Slc1a6	APN	10	78,629,142 (GRCm39)	missense	probably damaging	1.00
IGL01099:Slc1a6	APN	10	78,624,831 (GRCm39)	missense	possibly damaging	0.67
IGL02299:Slc1a6	APN	10	78,629,137 (GRCm39)	missense	probably damaging	1.00
IGL02677:Slc1a6	APN	10	78,624,898 (GRCm39)	missense	probably damaging	1.00
IGL02705:Slc1a6	APN	10	78,637,788 (GRCm39)	missense	probably damaging	1.00
IGL03024:Slc1a6	APN	10	78,650,442 (GRCm39)	missense	probably benign
IGL03185:Slc1a6	APN	10	78,637,741 (GRCm39)	missense	probably damaging	1.00
IGL03046:Slc1a6	UTSW	10	78,636,008 (GRCm39)	missense	probably benign	0.19
R0183:Slc1a6	UTSW	10	78,627,067 (GRCm39)	missense	probably damaging	1.00
R0373:Slc1a6	UTSW	10	78,637,756 (GRCm39)	nonsense	probably null
R0730:Slc1a6	UTSW	10	78,631,842 (GRCm39)	missense	probably benign	0.13
R0774:Slc1a6	UTSW	10	78,648,658 (GRCm39)	missense	probably benign	0.03
R0838:Slc1a6	UTSW	10	78,632,056 (GRCm39)	missense	probably damaging	1.00
R1449:Slc1a6	UTSW	10	78,635,951 (GRCm39)	missense	probably damaging	0.99
R1822:Slc1a6	UTSW	10	78,648,765 (GRCm39)	nonsense	probably null
R1853:Slc1a6	UTSW	10	78,648,758 (GRCm39)	missense	probably damaging	0.97
R1854:Slc1a6	UTSW	10	78,648,758 (GRCm39)	missense	probably damaging	0.97
R1855:Slc1a6	UTSW	10	78,648,758 (GRCm39)	missense	probably damaging	0.97
R1866:Slc1a6	UTSW	10	78,627,183 (GRCm39)	missense	probably damaging	0.99
R2279:Slc1a6	UTSW	10	78,624,882 (GRCm39)	missense	probably benign	0.12
R2360:Slc1a6	UTSW	10	78,648,718 (GRCm39)	missense	possibly damaging	0.91
R2939:Slc1a6	UTSW	10	78,650,448 (GRCm39)	makesense	probably null
R3111:Slc1a6	UTSW	10	78,624,915 (GRCm39)	missense	probably damaging	0.99
R3926:Slc1a6	UTSW	10	78,648,715 (GRCm39)	missense	possibly damaging	0.91
R4116:Slc1a6	UTSW	10	78,623,723 (GRCm39)	missense	probably benign	0.00
R4798:Slc1a6	UTSW	10	78,635,952 (GRCm39)	missense	probably damaging	1.00
R4916:Slc1a6	UTSW	10	78,632,085 (GRCm39)	missense	probably damaging	1.00
R5054:Slc1a6	UTSW	10	78,650,436 (GRCm39)	missense	probably damaging	1.00
R5166:Slc1a6	UTSW	10	78,632,103 (GRCm39)	critical splice donor site	probably null
R5304:Slc1a6	UTSW	10	78,629,141 (GRCm39)	missense	probably damaging	1.00
R5367:Slc1a6	UTSW	10	78,623,637 (GRCm39)	missense	probably damaging	1.00
R5554:Slc1a6	UTSW	10	78,631,816 (GRCm39)	missense	probably benign	0.00
R5635:Slc1a6	UTSW	10	78,624,925 (GRCm39)	missense	possibly damaging	0.67
R5773:Slc1a6	UTSW	10	78,629,111 (GRCm39)	splice site	probably null
R6117:Slc1a6	UTSW	10	78,624,822 (GRCm39)	missense	possibly damaging	0.72
R6167:Slc1a6	UTSW	10	78,637,671 (GRCm39)	missense	probably benign	0.40
R6174:Slc1a6	UTSW	10	78,637,741 (GRCm39)	missense	probably damaging	1.00
R6221:Slc1a6	UTSW	10	78,635,910 (GRCm39)	missense	probably damaging	0.98
R6323:Slc1a6	UTSW	10	78,648,721 (GRCm39)	missense	probably damaging	1.00
R6339:Slc1a6	UTSW	10	78,635,919 (GRCm39)	missense	possibly damaging	0.94
R6670:Slc1a6	UTSW	10	78,623,646 (GRCm39)	missense	probably benign	0.00
R7166:Slc1a6	UTSW	10	78,648,646 (GRCm39)	missense	possibly damaging	0.96
R7292:Slc1a6	UTSW	10	78,650,438 (GRCm39)	missense	possibly damaging	0.84
R7548:Slc1a6	UTSW	10	78,650,265 (GRCm39)	missense	probably damaging	1.00
R7779:Slc1a6	UTSW	10	78,631,789 (GRCm39)	missense	probably damaging	0.96
R7843:Slc1a6	UTSW	10	78,632,094 (GRCm39)	missense	probably damaging	1.00
R8068:Slc1a6	UTSW	10	78,648,706 (GRCm39)	missense	possibly damaging	0.96
R8190:Slc1a6	UTSW	10	78,627,067 (GRCm39)	missense	probably damaging	1.00
R8210:Slc1a6	UTSW	10	78,632,091 (GRCm39)	missense	possibly damaging	0.95
R8846:Slc1a6	UTSW	10	78,637,781 (GRCm39)	missense	probably damaging	1.00
R9216:Slc1a6	UTSW	10	78,637,692 (GRCm39)	missense	probably damaging	1.00
R9660:Slc1a6	UTSW	10	78,648,698 (GRCm39)	missense	probably benign	0.06
R9798:Slc1a6	UTSW	10	78,629,167 (GRCm39)	critical splice donor site	probably null
Z1176:Slc1a6	UTSW	10	78,631,909 (GRCm39)	missense	possibly damaging	0.65
Z1177:Slc1a6	UTSW	10	78,648,728 (GRCm39)	missense	probably damaging	1.00
Z1177:Slc1a6	UTSW	10	78,627,101 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- AGTCTTAGGAATGCCAGCCC -3'
(R):5'- CAACCAGAAGAGGTGTTTGGGC -3'

Sequencing Primer
(F):5'- GTCTTAGGAATGCCAGCCCTAGAC -3'
(R):5'- CCAATAAAAGGTGAAGAGTGGACCC -3'

Posted On

2014-09-17