Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02677:Slc1a6'

303183

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: 0.109) question?

Stock #

IGL02677

Quality Score

Status

Chromosome

Chromosomal Location

78780496-78814765 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78789064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 101 (V101A)

Ref Sequence

ENSEMBL: ENSMUSP00000151544 (fasta)

Gene Model

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

AlphaFold

O35544

Predicted Effect

probably damaging
Transcript: ENSMUST00000005490
AA Change: V101A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005490
Gene: ENSMUSG00000005357
AA Change: V101A

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 damaging
Transcript: ENSMUST00000217717
AA Change: V101A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	G	T	7: 43,501,095	Y84*	probably null	Het
4931406P16Rik	T	A	7: 34,242,409		probably benign	Het
Adam5	A	G	8: 24,812,379		probably benign	Het
Aipl1	T	C	11: 72,029,396	E282G	possibly damaging	Het
Akp3	A	G	1: 87,125,272	D61G	probably damaging	Het
Anpep	A	G	7: 79,838,730	S451P	probably damaging	Het
Csnka2ip	A	G	16: 64,478,312	L119P	probably damaging	Het
Ddx19a	T	C	8: 110,989,609	E53G	probably benign	Het
Ddx50	C	T	10: 62,616,293	R116Q	unknown	Het
Ddx60	A	T	8: 61,988,132	E1078D	probably damaging	Het
Dpy19l1	T	C	9: 24,485,072	D116G	probably damaging	Het
Dsg4	A	G	18: 20,464,876	T668A	possibly damaging	Het
Dspp	A	G	5: 104,175,977	T329A	possibly damaging	Het
Eftud2	T	C	11: 102,846,614	T554A	probably damaging	Het
Enpp1	T	C	10: 24,679,185		probably benign	Het
Ext2	A	T	2: 93,707,245	F599I	probably damaging	Het
Fahd1	A	T	17: 24,849,530	I191N	probably damaging	Het
Fcrls	A	T	3: 87,259,387	S100T	probably benign	Het
Fras1	T	A	5: 96,545,024	C181S	probably damaging	Het
Gcnt4	A	G	13: 96,947,233	I346V	probably benign	Het
Gfra1	G	A	19: 58,453,355	T48I	probably damaging	Het
Kcnma1	A	G	14: 23,463,156	Y392H	probably damaging	Het
Klc2	T	C	19: 5,111,668	Y298C	probably damaging	Het
Lamb3	G	A	1: 193,339,522	V1011I	probably benign	Het
Ldb1	T	C	19: 46,036,155		probably benign	Het
Mcph1	A	G	8: 18,625,593	K11E	probably damaging	Het
Myc	A	G	15: 61,989,664	H374R	probably damaging	Het
Myom1	A	G	17: 71,084,349	Y853C	probably damaging	Het
Olfr1282	A	T	2: 111,335,802	I92N	probably damaging	Het
Pakap	C	T	4: 57,856,263	P572S	probably benign	Het
Pclo	A	G	5: 14,676,929		probably benign	Het
Pde3a	G	A	6: 141,405,172		probably benign	Het
Per1	T	C	11: 69,106,660	V887A	probably benign	Het
Prokr1	G	A	6: 87,588,368		probably benign	Het
Rb1cc1	A	G	1: 6,249,419	I1021V	probably benign	Het
Ryr1	T	C	7: 29,110,608	E344G	probably benign	Het
Sec24c	A	T	14: 20,689,642	D529V	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Tap2	G	A	17: 34,212,047	V374M	probably benign	Het
Tex15	T	A	8: 33,571,080	D179E	probably benign	Het
Tmem8b	T	C	4: 43,686,092	L241P	probably damaging	Het
Tmprss11g	T	C	5: 86,492,290	D160G	probably benign	Het
Trim30a	C	T	7: 104,435,913	C30Y	probably damaging	Het
Ttn	A	G	2: 76,771,496		probably benign	Het
Ush2a	A	G	1: 188,734,685	R2849G	probably damaging	Het
Usp5	A	G	6: 124,819,426	V570A	probably damaging	Het
Vipr1	T	C	9: 121,660,283		probably benign	Het
Zc2hc1c	A	C	12: 85,290,076	D169A	probably benign	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
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
R6117:Slc1a6	UTSW	10	78788988	missense	possibly damaging	0.72
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
R8846:Slc1a6	UTSW	10	78801947	missense	probably damaging	1.00
R9216:Slc1a6	UTSW	10	78801858	missense	probably damaging	1.00
R9660:Slc1a6	UTSW	10	78812864	missense	probably benign	0.06
R9798:Slc1a6	UTSW	10	78793333	critical splice donor site	probably null
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

Posted On

2015-04-16