Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01141:Slc1a4'

52378

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc1a4

Ensembl Gene

ENSMUSG00000020142

Gene Name

solute carrier family 1 (glutamate/neutral amino acid transporter), member 4

Synonyms

ASCT1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01141

Quality Score

Status

Chromosome

Chromosomal Location

20302180-20332713 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 20308644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105223 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004634] [ENSMUST00000109594]

AlphaFold

O35874

Predicted Effect

probably benign
Transcript: ENSMUST00000004634

SMART Domains

Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142

Domain	Start	End	E-Value	Type
Pfam:SDF	1	397	2.7e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109594

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142

Domain	Start	End	E-Value	Type
Pfam:SDF	44	477	4.2e-121	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a sodium-dependent neutral amino acid transporter for alanine, serine, cysteine, and threonine. Defects in this gene have been associated with developmental delay, microcephaly, and intellectual disability. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,937,730	D1447E	probably damaging	Het
Atp2a3	T	C	11: 72,982,665	I788T	probably damaging	Het
Axin1	G	A	17: 26,190,041	E672K	probably damaging	Het
Ccno	A	G	13: 112,989,027	D175G	probably damaging	Het
Cep83	C	A	10: 94,788,757	T632K	probably benign	Het
Ckmt1	A	T	2: 121,362,993	I345F	probably benign	Het
Cntnap1	G	A	11: 101,178,807		probably benign	Het
Edem2	A	G	2: 155,709,028	Y340H	probably benign	Het
Erich3	A	G	3: 154,714,016	K249R	probably benign	Het
Fndc9	T	C	11: 46,237,699	I15T	probably benign	Het
Gm4758	A	G	16: 36,308,064	E7G	probably benign	Het
Grip2	G	T	6: 91,782,897	Q300K	probably benign	Het
Herc2	T	C	7: 56,212,841	V4050A	possibly damaging	Het
Jup	A	T	11: 100,386,249	D44E	probably benign	Het
Lingo3	G	T	10: 80,835,313	P261Q	probably damaging	Het
Lrrfip2	C	T	9: 111,219,715	R311W	probably damaging	Het
Mansc1	C	A	6: 134,621,785	L56F	probably benign	Het
Map1b	A	G	13: 99,434,761	I484T	probably damaging	Het
Mpeg1	T	A	19: 12,462,785	F536I	probably damaging	Het
Mrgprb1	T	G	7: 48,448,027	T46P	probably benign	Het
Mug1	A	G	6: 121,870,499	N612S	probably benign	Het
Olfr477	T	C	7: 107,990,551	F62S	probably damaging	Het
Olfr805	T	A	10: 129,722,945	I200L	probably benign	Het
Pax8	A	G	2: 24,441,150	S178P	probably damaging	Het
Peak1	A	G	9: 56,258,527	F706L	probably benign	Het
Prkdc	A	G	16: 15,726,704	T1853A	probably damaging	Het
Reln	A	C	5: 21,969,033	F2024C	probably damaging	Het
Reln	G	T	5: 21,919,069	P2813Q	probably damaging	Het
Riox1	A	G	12: 83,951,794	Q368R	probably damaging	Het
Rspry1	T	C	8: 94,649,855	V335A	probably benign	Het
Scn3a	T	C	2: 65,495,113	N1020S	possibly damaging	Het
Scyl2	A	G	10: 89,640,635	V876A	probably benign	Het
Sdhaf3	T	A	6: 6,956,141	F39I	probably damaging	Het
Sfxn4	T	C	19: 60,851,014	E202G	possibly damaging	Het
Sln	A	G	9: 53,853,500	I10V	probably benign	Het
Ssh2	A	G	11: 77,449,726	E568G	probably damaging	Het
Supt7l	G	A	5: 31,518,435	P270S	probably benign	Het
Tanc2	A	G	11: 105,886,474		probably benign	Het
Tatdn1	A	T	15: 58,909,567		probably benign	Het
Tfip11	C	T	5: 112,329,503	P117L	possibly damaging	Het
Vpreb1	T	C	16: 16,869,087	M9V	probably benign	Het

Other mutations in Slc1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01889:Slc1a4	APN	11	20314089	splice site	probably benign
IGL02725:Slc1a4	APN	11	20308408	missense	probably damaging	1.00
IGL03409:Slc1a4	APN	11	20306506	missense	probably damaging	1.00
G1Funyon:Slc1a4	UTSW	11	20332286	missense	probably damaging	1.00
R0085:Slc1a4	UTSW	11	20304510	splice site	probably benign
R0771:Slc1a4	UTSW	11	20306467	missense	probably damaging	1.00
R0898:Slc1a4	UTSW	11	20304349	missense	probably damaging	1.00
R1326:Slc1a4	UTSW	11	20332159	missense	probably damaging	1.00
R1992:Slc1a4	UTSW	11	20304375	missense	probably benign	0.31
R2497:Slc1a4	UTSW	11	20332620	start gained	probably benign
R3498:Slc1a4	UTSW	11	20313973	missense	probably damaging	1.00
R4608:Slc1a4	UTSW	11	20304348	missense	probably damaging	1.00
R4631:Slc1a4	UTSW	11	20308452	missense	probably damaging	1.00
R4885:Slc1a4	UTSW	11	20304384	missense	probably damaging	1.00
R4911:Slc1a4	UTSW	11	20332166	missense	probably damaging	1.00
R5533:Slc1a4	UTSW	11	20304417	missense	probably benign	0.01
R5548:Slc1a4	UTSW	11	20304429	missense	possibly damaging	0.68
R6523:Slc1a4	UTSW	11	20332114	missense	probably damaging	1.00
R6863:Slc1a4	UTSW	11	20314001	missense	probably damaging	1.00
R6941:Slc1a4	UTSW	11	20304346	missense	probably damaging	1.00
R7508:Slc1a4	UTSW	11	20306487	missense	probably damaging	1.00
R7747:Slc1a4	UTSW	11	20308587	missense	probably damaging	1.00
R7748:Slc1a4	UTSW	11	20332252	missense	probably damaging	1.00
R7934:Slc1a4	UTSW	11	20308518	missense	probably damaging	1.00
R8142:Slc1a4	UTSW	11	20307890	critical splice donor site	probably null
R8301:Slc1a4	UTSW	11	20332286	missense	probably damaging	1.00
R8398:Slc1a4	UTSW	11	20307982	missense	probably damaging	1.00
R8827:Slc1a4	UTSW	11	20320237	splice site	probably benign
R9031:Slc1a4	UTSW	11	20332532	start gained	probably benign
R9132:Slc1a4	UTSW	11	20308527	missense	probably damaging	1.00
R9280:Slc1a4	UTSW	11	20332325	missense	probably damaging	1.00
R9352:Slc1a4	UTSW	11	20332025	missense	probably damaging	0.97
R9548:Slc1a4	UTSW	11	20308041	missense	probably damaging	1.00
R9616:Slc1a4	UTSW	11	20332403	missense	probably benign
X0025:Slc1a4	UTSW	11	20318703	missense	probably benign

Posted On

2013-06-21