Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02299:Slc1a6'

290250

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 #

IGL02299

Quality Score

Status

Chromosome

Chromosomal Location

78616330-78650599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 78629137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 185 (P185T)

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: P185T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: P185T

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	T	12: 84,105,585 (GRCm39)	Q351*	probably null	Het
Ano1	T	A	7: 144,143,812 (GRCm39)	H993L	possibly damaging	Het
Atp2c1	A	T	9: 105,338,286 (GRCm39)		probably benign	Het
Cd81	T	C	7: 142,619,015 (GRCm39)	I13T	probably damaging	Het
Clasp2	T	A	9: 113,709,057 (GRCm39)	D633E	probably damaging	Het
Ctif	T	C	18: 75,770,316 (GRCm39)	E23G	probably damaging	Het
Dnah3	G	T	7: 119,566,802 (GRCm39)	L2475I	probably benign	Het
Fscn2	A	G	11: 120,253,025 (GRCm39)	D164G	probably benign	Het
Igfn1	A	G	1: 135,881,755 (GRCm39)		probably benign	Het
Mast4	A	T	13: 102,874,482 (GRCm39)	S1629T	probably benign	Het
Mpp4	C	A	1: 59,197,738 (GRCm39)		probably benign	Het
Nmi	T	A	2: 51,848,976 (GRCm39)	N38I	probably damaging	Het
Nod2	T	A	8: 89,390,370 (GRCm39)	L226M	possibly damaging	Het
Notch4	T	C	17: 34,796,978 (GRCm39)	S909P	probably damaging	Het
Oas1a	A	T	5: 121,043,755 (GRCm39)	W126R	probably benign	Het
Pcdhb5	T	C	18: 37,453,943 (GRCm39)	F108L	probably benign	Het
Plxna4	G	A	6: 32,142,091 (GRCm39)	P1589S	probably benign	Het
Qtrt1	A	G	9: 21,323,245 (GRCm39)	E32G	probably benign	Het
S100a3	A	G	3: 90,509,562 (GRCm39)	E69G	possibly damaging	Het
Slc8a3	T	A	12: 81,361,998 (GRCm39)	I274F	probably damaging	Het
Smc6	A	G	12: 11,340,752 (GRCm39)	N468S	probably benign	Het
Tep1	A	G	14: 51,078,128 (GRCm39)	L1567P	probably damaging	Het
Ugt2b37	G	A	5: 87,390,174 (GRCm39)	S424L	probably benign	Het
Urgcp	A	G	11: 5,667,573 (GRCm39)	L255P	probably damaging	Het
Vmn2r44	T	A	7: 8,380,815 (GRCm39)	K359N	probably benign	Het
Xpo1	T	A	11: 23,243,915 (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
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
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

2015-04-16