Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00496:Slc1a6'

332229

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc1a6

Ensembl Gene

ENSMUSG00000005357

Gene Name

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

Synonyms

EAAT4

Accession Numbers

Essential gene?

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

Stock #

IGL00496

Quality Score

Status

Chromosome

Chromosomal Location

78616330-78650599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78629142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 186 (N186K)

Ref Sequence

ENSEMBL: ENSMUSP00000005490 (fasta)

Gene Model

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

AlphaFold

O35544

Predicted Effect

probably damaging
Transcript: ENSMUST00000005490
AA Change: N186K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: N186K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000217717

Coding Region Coverage

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 89,960,400 (GRCm39)	V14M	possibly damaging	Het
Adgrg6	C	A	10: 14,326,322 (GRCm39)		probably null	Het
Ankmy1	A	G	1: 92,813,988 (GRCm39)	L397P	probably damaging	Het
Atp6v1c1	A	G	15: 38,687,100 (GRCm39)	K232E	probably damaging	Het
Cnfn	G	T	7: 25,067,385 (GRCm39)		probably benign	Het
Copb2	A	G	9: 98,452,371 (GRCm39)	T52A	probably benign	Het
Daw1	A	C	1: 83,174,957 (GRCm39)	L152F	probably damaging	Het
Gpr87	A	T	3: 59,087,211 (GRCm39)	I98K	probably damaging	Het
Il17a	G	A	1: 20,802,507 (GRCm39)	R72H	probably damaging	Het
Lmtk2	A	G	5: 144,111,512 (GRCm39)	Q744R	probably benign	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Micall2	T	C	5: 139,702,083 (GRCm39)	T387A	probably benign	Het
Nckap1	T	A	2: 80,336,546 (GRCm39)	I1057F	possibly damaging	Het
Nr1h3	T	C	2: 91,020,544 (GRCm39)	D263G	probably damaging	Het
Nrip1	A	T	16: 76,090,591 (GRCm39)	V322E	possibly damaging	Het
Pck1	T	C	2: 172,995,911 (GRCm39)		probably null	Het
Ppp3r2	A	G	4: 49,681,773 (GRCm39)	I59T	possibly damaging	Het
Pradc1	A	G	6: 85,424,948 (GRCm39)		probably null	Het
Psmd14	A	G	2: 61,591,026 (GRCm39)	Y32C	probably damaging	Het
Rrp12	A	C	19: 41,866,466 (GRCm39)		probably null	Het
Scaf8	A	T	17: 3,221,409 (GRCm39)	I299F	unknown	Het
Selenoo	A	G	15: 88,979,875 (GRCm39)	D341G	probably damaging	Het
Smarcc2	T	A	10: 128,298,924 (GRCm39)	S102R	probably damaging	Het
Stambpl1	T	A	19: 34,217,430 (GRCm39)	V423E	probably damaging	Het
Svep1	A	C	4: 58,069,001 (GRCm39)	C2928W	possibly damaging	Het
Tmed9	T	C	13: 55,741,334 (GRCm39)	Y43H	probably benign	Het
Ttn	T	C	2: 76,571,091 (GRCm39)	T24855A	possibly damaging	Het
Usp7	A	G	16: 8,512,977 (GRCm39)	V795A	probably damaging	Het
Wdr17	A	C	8: 55,112,614 (GRCm39)		probably benign	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
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
R2073:Slc1a6	UTSW	10	78,635,964 (GRCm39)	missense	possibly damaging	0.93
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

Posted On

2015-08-05