Mutagenetix > Incidental Mutation

Incidental Mutation 'R8301:Slc1a4'

639275

Institutional Source

Beutler Lab

Gene Symbol

Slc1a4

Ensembl Gene

ENSMUSG00000020142

Gene Name

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

Synonyms

ASCT1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8301 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20302180-20332713 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20332286 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 63 (R63G)

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 damaging
Transcript: ENSMUST00000109594
AA Change: R63G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: R63G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,972,505	I374F	probably benign	Het
Ak9	G	A	10: 41,424,716	V1108I		Het
Aldh16a1	C	T	7: 45,141,982	A790T	possibly damaging	Het
Anks1	A	T	17: 28,059,580		probably benign	Het
Antxr2	T	G	5: 97,977,679	T240P	probably benign	Het
Arfgef1	A	T	1: 10,179,833	M945K	probably damaging	Het
Arhgef17	T	C	7: 100,879,659	T1591A	probably benign	Het
Aurka	A	G	2: 172,356,930	S374P	probably damaging	Het
Bccip	T	C	7: 133,719,204	S236P	probably benign	Het
Cacna1s	T	A	1: 136,073,441		probably benign	Het
Calm1	A	G	12: 100,205,685	E132G	probably benign	Het
Casz1	A	G	4: 148,946,043	D1173G	probably damaging	Het
Cdh17	A	G	4: 11,795,659	D413G	probably damaging	Het
Cfap57	A	G	4: 118,593,074	I617T	possibly damaging	Het
Creb5	A	G	6: 53,681,033	D116G	possibly damaging	Het
Csnka2ip	A	C	16: 64,478,991	S337A	unknown	Het
Ddx60	A	G	8: 62,000,597	E1250G	probably benign	Het
Dlgap2	T	A	8: 14,823,577	S727T	probably benign	Het
Dpy19l1	T	C	9: 24,485,111		probably benign	Het
Ebf2	A	G	14: 67,238,982	T134A	possibly damaging	Het
Echdc2	A	T	4: 108,172,909	M136L	probably benign	Het
Enpp2	A	G	15: 54,851,407	F598S	probably benign	Het
Extl3	A	C	14: 65,076,284	L483R	probably damaging	Het
Gcat	T	C	15: 79,035,889	V227A	possibly damaging	Het
Hsf2	A	G	10: 57,505,346	D344G	probably damaging	Het
Ighm	C	T	12: 113,421,545	G265D		Het
Igsf9b	T	G	9: 27,334,739		probably benign	Het
Ints6	A	G	14: 62,702,453	V596A	probably benign	Het
Ints8	T	C	4: 11,246,120	E182G	probably damaging	Het
Iqgap2	A	G	13: 95,682,151		probably null	Het
Kalrn	G	T	16: 34,357,100	Q250K	probably benign	Het
Lrrc1	T	A	9: 77,544,488	N46Y	probably damaging	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naa50	A	G	16: 44,157,131	N74S	probably benign	Het
Neb	T	C	2: 52,288,835	N1303S	probably benign	Het
Nfs1	A	T	2: 156,134,493	C160*	probably null	Het
Olfr472	A	G	7: 107,903,626	K303R	probably benign	Het
Olfr591	T	G	7: 103,173,073	K188T	probably damaging	Het
Olfr740	T	A	14: 50,453,564	S171T	probably benign	Het
Olfr809	T	C	10: 129,776,840	S309P	probably benign	Het
Orm2	T	C	4: 63,363,026	F67S	possibly damaging	Het
Pex5	A	G	6: 124,405,183	S180P	probably benign	Het
Phf14	G	C	6: 11,992,062	G746R	probably damaging	Het
Pkm	T	A	9: 59,668,631	V110E	probably damaging	Het
Plekha6	T	G	1: 133,264,687	N78K	probably damaging	Het
Plxna2	G	A	1: 194,790,175	V1076I	probably benign	Het
Polq	C	A	16: 37,061,819	D1448E	probably damaging	Het
Pot1b	T	C	17: 55,687,895	T256A	probably benign	Het
Prkch	C	T	12: 73,702,764	T377I	possibly damaging	Het
Prl3c1	A	C	13: 27,199,185		probably benign	Het
Prl7b1	A	C	13: 27,602,772	V158G	possibly damaging	Het
Prss22	T	C	17: 23,993,981	S261G	probably damaging	Het
Psd	T	C	19: 46,321,102		probably benign	Het
Psg18	A	T	7: 18,353,377	Y119N	probably damaging	Het
Rbm6	T	G	9: 107,852,794	R218S	probably damaging	Het
Rnf213	T	A	11: 119,434,742	S1491T		Het
Rsf1	T	C	7: 97,661,925	S621P		Het
Runx1	C	A	16: 92,605,656	*466L	probably null	Het
Samd4	A	G	14: 47,016,678	I200V	probably benign	Het
Sdsl	C	T	5: 120,459,519	C241Y	probably benign	Het
Selenon	T	C	4: 134,551,414		probably benign	Het
Setx	C	T	2: 29,145,690	P729L	possibly damaging	Het
Sf1	C	T	19: 6,368,366	Q55*	probably null	Het
Slc12a5	A	T	2: 164,993,691	N833I	probably damaging	Het
Tmeff2	G	T	1: 51,181,837	A324S	probably benign	Het
Tmem217	A	G	17: 29,526,492	I88T	possibly damaging	Het
Tnfsf8	A	T	4: 63,860,878	I61N	probably benign	Het
Tpbgl	G	T	7: 99,625,567	A361E	probably damaging	Het
Trhde	T	A	10: 114,487,006	E667V	probably benign	Het
Unc13b	A	G	4: 43,263,568	T1598A	probably benign	Het
Vmn2r73	A	T	7: 85,858,302	C601S	probably benign	Het
Zfp873	C	A	10: 82,060,879	H481Q	probably damaging	Het

Other mutations in Slc1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Slc1a4	APN	11	20308644	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTAAGCAACAGCGATGCC -3'
(R):5'- TTCCTTGAGTGTTACCGCTTAGAG -3'

Sequencing Primer
(F):5'- AGCGATGCCACCCAGACG -3'
(R):5'- TTAGAGCGGTGGGCAACGAC -3'

Posted On

2020-07-28