Mutagenetix > Incidental Mutation

Incidental Mutation 'R2497:Slc1a4'

266155

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

040411-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2497 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

20252180-20282713 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 20282620 bp (GRCm39)

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180654

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

100% (60/60)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	A	G	14: 8,251,612 (GRCm38)	V295A	probably benign	Het
Agrn	T	C	4: 156,258,268 (GRCm39)	E959G	probably benign	Het
Aqp5	T	C	15: 99,489,180 (GRCm39)	F10L	possibly damaging	Het
Arhgap39	C	A	15: 76,609,585 (GRCm39)	V1025L	probably damaging	Het
Atg4d	C	T	9: 21,184,682 (GRCm39)	R459*	probably null	Het
Atp11b	A	G	3: 35,909,294 (GRCm39)	S1163G	probably damaging	Het
Atp13a5	G	T	16: 29,157,889 (GRCm39)	S173*	probably null	Het
Atp6v1g2	T	A	17: 35,455,762 (GRCm39)	I8N	probably damaging	Het
Ccdc77	C	T	6: 120,302,433 (GRCm39)	G430R	possibly damaging	Het
Cdc34b	A	G	11: 94,633,207 (GRCm39)	T136A	probably benign	Het
Cdkal1	A	G	13: 29,658,524 (GRCm39)	S23P	unknown	Het
Cdkl2	T	A	5: 92,156,857 (GRCm39)	H566L	probably benign	Het
Cers6	T	C	2: 68,901,790 (GRCm39)		probably benign	Het
Cfap251	T	C	5: 123,421,432 (GRCm39)	V98A	probably damaging	Het
Clspn	A	G	4: 126,466,140 (GRCm39)	T557A	possibly damaging	Het
Cmya5	T	C	13: 93,234,513 (GRCm39)	T192A	possibly damaging	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dnah17	T	G	11: 117,977,850 (GRCm39)		probably null	Het
Dnah8	C	T	17: 30,960,339 (GRCm39)	Q2239*	probably null	Het
Dscaml1	T	C	9: 45,656,376 (GRCm39)	V1572A	probably benign	Het
Elfn2	C	G	15: 78,558,464 (GRCm39)	E28Q	probably damaging	Het
Enam	T	A	5: 88,650,553 (GRCm39)	N687K	probably benign	Het
Flywch1	G	A	17: 23,974,685 (GRCm39)	R652W	probably benign	Het
Gm5612	T	C	9: 18,338,975 (GRCm39)		probably benign	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Mmp3	A	G	9: 7,450,131 (GRCm39)	T288A	probably benign	Het
Mtmr4	T	A	11: 87,491,649 (GRCm39)	F168L	probably damaging	Het
Mtres1	T	C	10: 43,401,263 (GRCm39)		probably benign	Het
Myo1d	T	A	11: 80,565,647 (GRCm39)	N393Y	probably damaging	Het
Nacc2	A	T	2: 25,979,580 (GRCm39)	Y285*	probably null	Het
Nf1	G	T	11: 79,334,710 (GRCm39)	G844V	probably damaging	Het
Nox4	T	A	7: 86,945,084 (GRCm39)	Y113*	probably null	Het
Pcdha3	T	C	18: 37,080,556 (GRCm39)	C433R	probably benign	Het
Pde6c	A	G	19: 38,142,142 (GRCm39)	I358V	probably damaging	Het
Pdgfrb	A	T	18: 61,211,700 (GRCm39)	D819V	possibly damaging	Het
Phf3	C	A	1: 30,869,095 (GRCm39)	R651L	probably damaging	Het
Prrx1	A	G	1: 163,075,834 (GRCm39)	V244A	possibly damaging	Het
Ptges	C	T	2: 30,782,722 (GRCm39)	G110D	possibly damaging	Het
Rab27a	T	C	9: 72,992,263 (GRCm39)	L97P	probably damaging	Het
Rnf20	G	A	4: 49,652,676 (GRCm39)		probably null	Het
Sdad1	T	C	5: 92,447,958 (GRCm39)	N259S	probably benign	Het
Serpinb9d	T	C	13: 33,380,500 (GRCm39)	S129P	probably damaging	Het
Smyd2	T	A	1: 189,617,534 (GRCm39)	N300I	possibly damaging	Het
Snd1	A	G	6: 28,888,078 (GRCm39)	I875V	probably benign	Het
Ssh1	T	C	5: 114,096,919 (GRCm39)	N174S	probably damaging	Het
Stimate	C	T	14: 30,594,537 (GRCm39)	L217F	probably damaging	Het
Tanc2	T	C	11: 105,564,319 (GRCm39)		probably null	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Tpcn1	C	T	5: 120,677,063 (GRCm39)		probably null	Het
Unc45b	A	T	11: 82,827,269 (GRCm39)	I699F	probably damaging	Het
Uspl1	C	T	5: 149,124,664 (GRCm39)	P27L	probably damaging	Het
Ylpm1	C	G	12: 85,043,535 (GRCm39)	P91R	probably damaging	Het
Zdhhc23	G	A	16: 43,794,278 (GRCm39)	T132M	probably damaging	Het
Zfp148	T	C	16: 33,316,755 (GRCm39)	Y434H	probably damaging	Het
Zhx2	T	C	15: 57,686,551 (GRCm39)	V640A	possibly damaging	Het

Other mutations in Slc1a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01141:Slc1a4	APN	11	20,258,644 (GRCm39)	splice site	probably benign
IGL01889:Slc1a4	APN	11	20,264,089 (GRCm39)	splice site	probably benign
IGL02725:Slc1a4	APN	11	20,258,408 (GRCm39)	missense	probably damaging	1.00
IGL03409:Slc1a4	APN	11	20,256,506 (GRCm39)	missense	probably damaging	1.00
G1Funyon:Slc1a4	UTSW	11	20,282,286 (GRCm39)	missense	probably damaging	1.00
R0085:Slc1a4	UTSW	11	20,254,510 (GRCm39)	splice site	probably benign
R0771:Slc1a4	UTSW	11	20,256,467 (GRCm39)	missense	probably damaging	1.00
R0898:Slc1a4	UTSW	11	20,254,349 (GRCm39)	missense	probably damaging	1.00
R1326:Slc1a4	UTSW	11	20,282,159 (GRCm39)	missense	probably damaging	1.00
R1992:Slc1a4	UTSW	11	20,254,375 (GRCm39)	missense	probably benign	0.31
R3498:Slc1a4	UTSW	11	20,263,973 (GRCm39)	missense	probably damaging	1.00
R4608:Slc1a4	UTSW	11	20,254,348 (GRCm39)	missense	probably damaging	1.00
R4631:Slc1a4	UTSW	11	20,258,452 (GRCm39)	missense	probably damaging	1.00
R4885:Slc1a4	UTSW	11	20,254,384 (GRCm39)	missense	probably damaging	1.00
R4911:Slc1a4	UTSW	11	20,282,166 (GRCm39)	missense	probably damaging	1.00
R5533:Slc1a4	UTSW	11	20,254,417 (GRCm39)	missense	probably benign	0.01
R5548:Slc1a4	UTSW	11	20,254,429 (GRCm39)	missense	possibly damaging	0.68
R6523:Slc1a4	UTSW	11	20,282,114 (GRCm39)	missense	probably damaging	1.00
R6863:Slc1a4	UTSW	11	20,264,001 (GRCm39)	missense	probably damaging	1.00
R6941:Slc1a4	UTSW	11	20,254,346 (GRCm39)	missense	probably damaging	1.00
R7508:Slc1a4	UTSW	11	20,256,487 (GRCm39)	missense	probably damaging	1.00
R7747:Slc1a4	UTSW	11	20,258,587 (GRCm39)	missense	probably damaging	1.00
R7748:Slc1a4	UTSW	11	20,282,252 (GRCm39)	missense	probably damaging	1.00
R7934:Slc1a4	UTSW	11	20,258,518 (GRCm39)	missense	probably damaging	1.00
R8142:Slc1a4	UTSW	11	20,257,890 (GRCm39)	critical splice donor site	probably null
R8301:Slc1a4	UTSW	11	20,282,286 (GRCm39)	missense	probably damaging	1.00
R8398:Slc1a4	UTSW	11	20,257,982 (GRCm39)	missense	probably damaging	1.00
R8827:Slc1a4	UTSW	11	20,270,237 (GRCm39)	splice site	probably benign
R9031:Slc1a4	UTSW	11	20,282,532 (GRCm39)	start gained	probably benign
R9132:Slc1a4	UTSW	11	20,258,527 (GRCm39)	missense	probably damaging	1.00
R9280:Slc1a4	UTSW	11	20,282,325 (GRCm39)	missense	probably damaging	1.00
R9352:Slc1a4	UTSW	11	20,282,025 (GRCm39)	missense	probably damaging	0.97
R9548:Slc1a4	UTSW	11	20,258,041 (GRCm39)	missense	probably damaging	1.00
R9616:Slc1a4	UTSW	11	20,282,403 (GRCm39)	missense	probably benign
X0025:Slc1a4	UTSW	11	20,268,703 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2015-02-05