Mutagenetix > Incidental Mutation

Incidental Mutation 'R6863:Slc1a4'

535768

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 #

R6863 (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 20314001 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 239 (K239E)

Ref Sequence

ENSEMBL: ENSMUSP00000105223 (fasta)

Gene Model

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

AlphaFold

O35874

Predicted Effect

probably damaging
Transcript: ENSMUST00000004634
AA Change: K159E

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

SMART Domains

Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
AA Change: K159E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109594
AA Change: K239E

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

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: K239E

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

Meta Mutation Damage Score

0.5791

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (56/56)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	T	C	8: 105,285,803	D4G	probably damaging	Het
Adamts20	A	T	15: 94,379,746	Y278*	probably null	Het
Agap3	A	T	5: 24,452,463	Y86F	possibly damaging	Het
Agap3	C	A	5: 24,452,464	Y86*	probably null	Het
Ahnak	T	C	19: 9,012,365		probably benign	Het
Arhgap45	G	T	10: 80,017,782	E43D	probably benign	Het
Cacna1d	A	C	14: 30,075,852	I1426S	probably damaging	Het
Cdkn2a	T	C	4: 89,274,766	E159G	probably benign	Het
Cep85l	C	A	10: 53,349,118	W125L	probably damaging	Het
Ces1g	C	T	8: 93,317,019	V431M	possibly damaging	Het
Csmd1	G	A	8: 17,534,913	A21V	possibly damaging	Het
Ctsc	T	A	7: 88,302,278	Y243*	probably null	Het
Ctu1	A	G	7: 43,676,622	E235G	probably damaging	Het
D1Ertd622e	T	C	1: 97,646,305	T12A	probably benign	Het
Degs2	T	C	12: 108,702,202	Y14C	probably damaging	Het
Dnaaf5	T	C	5: 139,151,596	F235L	probably damaging	Het
Dpp8	T	C	9: 65,035,008	S5P	probably damaging	Het
Dync1h1	T	C	12: 110,652,180	I3288T	probably benign	Het
Ebpl	A	T	14: 61,360,302	L30Q	probably damaging	Het
Etaa1	T	A	11: 17,953,794	M1L	probably benign	Het
Etl4	A	G	2: 20,806,309	T1068A	probably benign	Het
Eya1	C	A	1: 14,270,975		probably null	Het
Fam26e	C	A	10: 34,092,455	A201S	probably benign	Het
Fat1	G	T	8: 45,044,464	V4329L	probably damaging	Het
Fras1	A	T	5: 96,543,306	Q127L	probably benign	Het
Gm1110	T	G	9: 26,881,064	Y590S	probably damaging	Het
Gm14410	G	A	2: 177,194,067	Q135*	probably null	Het
Gm5039	T	C	12: 88,321,198	Y95C	probably damaging	Het
Greb1	A	T	12: 16,684,420	V1523D	probably damaging	Het
Hmg20b	T	C	10: 81,347,020	N210S	probably damaging	Het
Kcnh7	T	C	2: 62,787,685	K487E	possibly damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Kif17	T	A	4: 138,269,884	Y139*	probably null	Het
Klhl2	A	T	8: 64,823,091	N53K	probably benign	Het
Lrit2	G	T	14: 37,071,944	G322C	probably damaging	Het
Mgam	A	T	6: 40,729,009	Q4L	probably benign	Het
Mst1r	A	G	9: 107,920,026	T1365A	probably benign	Het
Muc5ac	C	T	7: 141,809,744		probably benign	Het
Mydgf	C	A	17: 56,183,789	V35L	probably damaging	Het
Nmt2	T	A	2: 3,305,304		probably null	Het
Olfr600	C	T	7: 103,346,916	C4Y	possibly damaging	Het
Olfr982	A	G	9: 40,074,814	Y173C	probably damaging	Het
Pik3r2	T	C	8: 70,770,414	Y454C	probably damaging	Het
Rad54l	T	C	4: 116,099,669	Y485C	probably damaging	Het
Rapgef6	T	A	11: 54,546,380	S50T	probably benign	Het
Scaf11	T	C	15: 96,419,419	S755G	probably damaging	Het
Shb	A	G	4: 45,458,163	W135R	probably damaging	Het
Slc44a4	T	A	17: 34,923,822	V248D	probably benign	Het
Smpdl3a	T	A	10: 57,808,011	Y288*	probably null	Het
Sptbn1	T	C	11: 30,146,777	M267V	possibly damaging	Het
Taok2	C	T	7: 126,871,937	R661Q	probably damaging	Het
Tas1r2	A	T	4: 139,669,719	I819F	probably damaging	Het
Themis2	A	T	4: 132,789,596	W198R	probably damaging	Het
Timd4	C	G	11: 46,815,443	S24*	probably null	Het
Tnrc18	T	C	5: 142,815,197	D2G	probably damaging	Het
Wdr35	A	G	12: 8,990,047	D384G	probably damaging	Het
Zfp560	C	A	9: 20,348,499	V356F	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
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

Predicted Primers

PCR Primer
(F):5'- CAACCTAACACTGGGCATGG -3'
(R):5'- ATGTTCTAACAGCCAGCTTTTCTG -3'

Sequencing Primer
(F):5'- CATGGGGGCAGGTTCCC -3'
(R):5'- AACCTCCTGAGTGCTATGATTGCAG -3'

Posted On

2018-10-18