Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02705:Slc1a6'

304309

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 #

IGL02705

Quality Score

Status

Chromosome

Chromosomal Location

78616330-78650599 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78637788 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 438 (V438A)

Ref Sequence

ENSEMBL: ENSMUSP00000005490 (fasta)

Gene Model

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

AlphaFold

O35544

Predicted Effect

probably damaging
Transcript: ENSMUST00000005490
AA Change: V438A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: V438A

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

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
1700025G04Rik	A	G	1: 151,791,264 (GRCm39)	F99S	probably damaging	Het
Ankrd17	G	A	5: 90,430,974 (GRCm39)	P937S	probably benign	Het
Apom	T	G	17: 35,349,471 (GRCm39)		probably null	Het
Baz2b	A	G	2: 59,778,604 (GRCm39)	I752T	possibly damaging	Het
Bcat1	T	C	6: 144,964,914 (GRCm39)		probably benign	Het
Bcl9	A	G	3: 97,112,181 (GRCm39)	F1425L	possibly damaging	Het
Bco1	G	A	8: 117,844,242 (GRCm39)	V319M	possibly damaging	Het
Dmwd	C	A	7: 18,814,769 (GRCm39)	T473K	probably benign	Het
Garin4	T	C	1: 190,896,499 (GRCm39)	Y48C	probably damaging	Het
Gata2	C	T	6: 88,182,346 (GRCm39)	A438V	possibly damaging	Het
Ifnz	A	G	4: 88,701,574 (GRCm39)		probably benign	Het
Myh14	T	C	7: 44,257,960 (GRCm39)	I1859V	possibly damaging	Het
Ndn	A	G	7: 61,998,856 (GRCm39)	D234G	probably damaging	Het
Nfe2l3	T	C	6: 51,410,098 (GRCm39)	L71P	probably damaging	Het
Nfia	T	G	4: 97,671,605 (GRCm39)	L105R	probably damaging	Het
Npy2r	T	A	3: 82,448,056 (GRCm39)	T127S	probably benign	Het
Or51a8	T	C	7: 102,550,449 (GRCm39)	Y292H	probably damaging	Het
Or7g12	T	A	9: 18,899,696 (GRCm39)	N137K	probably benign	Het
Ppip5k2	A	T	1: 97,686,924 (GRCm39)	C94S	probably damaging	Het
Pramel26	A	G	4: 143,537,372 (GRCm39)	S320P	probably damaging	Het
Slc6a7	C	T	18: 61,142,500 (GRCm39)	G71R	probably damaging	Het
Styk1	C	T	6: 131,289,546 (GRCm39)	V23I	probably benign	Het
Tmprss5	C	A	9: 49,018,447 (GRCm39)	N92K	probably benign	Het
Trpm6	T	G	19: 18,754,097 (GRCm39)		probably null	Het
Ttn	C	T	2: 76,677,114 (GRCm39)		probably benign	Het
Tut7	A	G	13: 59,937,017 (GRCm39)	F808S	probably damaging	Het
Vmn2r109	G	A	17: 20,774,062 (GRCm39)	A431V	probably benign	Het
Wdr17	C	T	8: 55,101,250 (GRCm39)		probably null	Het
Zfp407	G	T	18: 84,577,156 (GRCm39)	S1319*	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
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