Mutagenetix > Incidental Mutations

Incidental Mutation 'R6117:Slc1a6'

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485168

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

044266-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R6117 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78780496-78814765 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78788988 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 76 (Y76H)

Ref Sequence

ENSEMBL: ENSMUSP00000151544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005490] [ENSMUST00000217717]

Predicted Effect

probably benign
Transcript: ENSMUST00000005490
AA Change: Y76H

PolyPhen 2 Score 0.350 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: Y76H

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000217717
AA Change: Y76H

PolyPhen 2 Score 0.723 (Sensitivity: 0.86; Specificity: 0.92)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,698,786	Y625C	probably damaging	Het
Ankmy1	A	G	1: 92,861,274		probably benign	Het
Apmap	T	C	2: 150,600,332	T41A	probably benign	Het
Cacna1a	A	G	8: 84,614,721	Y1804C	probably damaging	Het
Cacna1e	A	T	1: 154,561,791	I333N	possibly damaging	Het
Cdsn	C	A	17: 35,555,034	S153R	unknown	Het
Celsr1	A	T	15: 85,932,411	M1777K	probably benign	Het
Cmtr1	A	G	17: 29,682,165	M249V	probably benign	Het
Cmya5	A	G	13: 93,095,166	L1138P	probably damaging	Het
Crim1	A	C	17: 78,303,088	D324A	probably damaging	Het
Dmap1	T	A	4: 117,675,535		probably null	Het
Dnah17	T	C	11: 118,119,571	Y307C	probably benign	Het
Dnah5	T	A	15: 28,270,420	L956H	probably damaging	Het
Enpp3	C	T	10: 24,787,852	S537N	probably damaging	Het
Eya3	T	A	4: 132,711,862	L323Q	probably damaging	Het
Fads3	A	T	19: 10,054,267	H226L	probably damaging	Het
Flrt3	T	A	2: 140,660,445	D421V	possibly damaging	Het
Frmd4a	T	C	2: 4,602,249	V370A	possibly damaging	Het
Gapvd1	T	C	2: 34,690,459		probably null	Het
Gm2178	T	C	14: 26,514,840		probably benign	Het
Gm5592	A	G	7: 41,288,464	N390S	probably benign	Het
Hoxa10	T	A	6: 52,234,820	R39*	probably null	Het
Kcnj1	A	G	9: 32,397,182	T281A	probably damaging	Het
Myo10	T	C	15: 25,805,659	Y1709H	probably benign	Het
Nacad	T	C	11: 6,599,810	D1127G	probably benign	Het
Naip1	T	A	13: 100,444,737	M1L	probably damaging	Het
Olfr1331	A	T	4: 118,869,144	Y121F	probably benign	Het
Olfr811	G	A	10: 129,801,820	A235V	probably damaging	Het
Olfr811	C	A	10: 129,801,821	A235S	probably damaging	Het
Pcdhb12	G	A	18: 37,435,642		probably benign	Het
Pde1b	T	C	15: 103,521,482	V134A	probably damaging	Het
Plxnb2	A	T	15: 89,158,000	D1600E	probably benign	Het
Prss54	T	A	8: 95,565,458		probably null	Het
Ryr3	A	T	2: 112,635,396	I4757N	probably damaging	Het
Slco3a1	C	T	7: 74,318,506	D489N	probably benign	Het
Sox15	G	T	11: 69,655,890	G173V	possibly damaging	Het
Stard3	T	C	11: 98,372,262	S48P	probably damaging	Het
Stk32c	G	A	7: 139,122,923	Q67*	probably null	Het
Svil	T	A	18: 5,116,016	W2101R	probably damaging	Het
Taar7e	T	A	10: 24,038,529	Y306N	probably damaging	Het
Tarbp1	T	A	8: 126,427,541	M1485L	probably benign	Het
Togaram1	A	G	12: 64,967,487	D504G	probably damaging	Het
Trrap	T	C	5: 144,802,961	L1091S	possibly damaging	Het
Unc80	A	G	1: 66,675,067	E2856G	possibly damaging	Het
Usp47	C	T	7: 112,087,932	T699M	probably damaging	Het

Other mutations in Slc1a6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00335:Slc1a6	APN	10	78801813	missense	probably damaging	1.00
IGL00496:Slc1a6	APN	10	78793308	missense	probably damaging	1.00
IGL01099:Slc1a6	APN	10	78788997	missense	possibly damaging	0.67
IGL02299:Slc1a6	APN	10	78793303	missense	probably damaging	1.00
IGL02677:Slc1a6	APN	10	78789064	missense	probably damaging	1.00
IGL02705:Slc1a6	APN	10	78801954	missense	probably damaging	1.00
IGL03024:Slc1a6	APN	10	78814608	missense	probably benign
IGL03185:Slc1a6	APN	10	78801907	missense	probably damaging	1.00
IGL03046:Slc1a6	UTSW	10	78800174	missense	probably benign	0.19
R0183:Slc1a6	UTSW	10	78791233	missense	probably damaging	1.00
R0373:Slc1a6	UTSW	10	78801922	nonsense	probably null
R0730:Slc1a6	UTSW	10	78796008	missense	probably benign	0.13
R0774:Slc1a6	UTSW	10	78812824	missense	probably benign	0.03
R0838:Slc1a6	UTSW	10	78796222	missense	probably damaging	1.00
R1449:Slc1a6	UTSW	10	78800117	missense	probably damaging	0.99
R1822:Slc1a6	UTSW	10	78812931	nonsense	probably null
R1853:Slc1a6	UTSW	10	78812924	missense	probably damaging	0.97
R1854:Slc1a6	UTSW	10	78812924	missense	probably damaging	0.97
R1855:Slc1a6	UTSW	10	78812924	missense	probably damaging	0.97
R1866:Slc1a6	UTSW	10	78791349	missense	probably damaging	0.99
R2073:Slc1a6	UTSW	10	78800130	missense	possibly damaging	0.93
R2279:Slc1a6	UTSW	10	78789048	missense	probably benign	0.12
R2360:Slc1a6	UTSW	10	78812884	missense	possibly damaging	0.91
R2939:Slc1a6	UTSW	10	78814614	makesense	probably null
R3111:Slc1a6	UTSW	10	78789081	missense	probably damaging	0.99
R3926:Slc1a6	UTSW	10	78812881	missense	possibly damaging	0.91
R4116:Slc1a6	UTSW	10	78787889	missense	probably benign	0.00
R4798:Slc1a6	UTSW	10	78800118	missense	probably damaging	1.00
R4916:Slc1a6	UTSW	10	78796251	missense	probably damaging	1.00
R5054:Slc1a6	UTSW	10	78814602	missense	probably damaging	1.00
R5166:Slc1a6	UTSW	10	78796269	critical splice donor site	probably null
R5304:Slc1a6	UTSW	10	78793307	missense	probably damaging	1.00
R5367:Slc1a6	UTSW	10	78787803	missense	probably damaging	1.00
R5554:Slc1a6	UTSW	10	78795982	missense	probably benign	0.00
R5635:Slc1a6	UTSW	10	78789091	missense	possibly damaging	0.67
R5773:Slc1a6	UTSW	10	78793277	splice site	probably null
R6167:Slc1a6	UTSW	10	78801837	missense	probably benign	0.40
R6174:Slc1a6	UTSW	10	78801907	missense	probably damaging	1.00
R6221:Slc1a6	UTSW	10	78800076	missense	probably damaging	0.98
R6323:Slc1a6	UTSW	10	78812887	missense	probably damaging	1.00
R6339:Slc1a6	UTSW	10	78800085	missense	possibly damaging	0.94
R6670:Slc1a6	UTSW	10	78787812	missense	probably benign	0.00
R7166:Slc1a6	UTSW	10	78812812	missense	possibly damaging	0.96
R7292:Slc1a6	UTSW	10	78814604	missense	possibly damaging	0.84
R7548:Slc1a6	UTSW	10	78814431	missense	probably damaging	1.00
R7779:Slc1a6	UTSW	10	78795955	missense	probably damaging	0.96
R7843:Slc1a6	UTSW	10	78796260	missense	probably damaging	1.00
R8068:Slc1a6	UTSW	10	78812872	missense	possibly damaging	0.96
R8190:Slc1a6	UTSW	10	78791233	missense	probably damaging	1.00
R8210:Slc1a6	UTSW	10	78796257	missense	possibly damaging	0.95
Z1176:Slc1a6	UTSW	10	78796075	missense	possibly damaging	0.65
Z1177:Slc1a6	UTSW	10	78791267	missense	possibly damaging	0.79
Z1177:Slc1a6	UTSW	10	78812894	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGTGCCCTTACCCATATACAC -3'
(R):5'- GAGAAAGGGCTTCCATGATTGG -3'

Sequencing Primer
(F):5'- TGTGCCCTTACCCATATACACACAAG -3'
(R):5'- CCATGATTGGAGTAACCCTGGATC -3'

Posted On

2017-08-16