Mutagenetix > Incidental Mutation

Incidental Mutation 'R3498:Slc1a4'

273670

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

040661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20302180-20332713 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20313973 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 248 (I248N)

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: I168N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
AA Change: I168N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109594
AA Change: I248N

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

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: I248N

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

Meta Mutation Damage Score

0.7965

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (43/43)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	AC	A	17: 47,433,423		probably benign	Het
A3galt2	T	C	4: 128,755,557	F6L	probably benign	Het
Aurkc	A	G	7: 7,000,030	I175V	probably damaging	Het
Azi2	A	G	9: 118,049,407	D105G	probably damaging	Het
Bcat1	A	G	6: 145,019,342	V45A	probably damaging	Het
Cass4	C	T	2: 172,432,558	P753L	probably damaging	Het
Ddx42	A	G	11: 106,231,193	E178G	possibly damaging	Het
Dmpk	T	C	7: 19,086,381	I101T	probably damaging	Het
Dnah17	C	T	11: 118,080,849		probably benign	Het
Fosb	C	T	7: 19,306,632	R161H	probably damaging	Het
Gm6729	T	C	10: 86,540,718		noncoding transcript	Het
Gnb1	T	A	4: 155,555,026	N237K	possibly damaging	Het
Gpr35	A	G	1: 92,983,391	Y275C	probably damaging	Het
Hmcn1	A	T	1: 150,605,102	I4441N	probably damaging	Het
Ighe	G	A	12: 113,271,374	Q389*	probably null	Het
Kcnj11	T	C	7: 46,099,602	D23G	probably damaging	Het
Lats2	G	T	14: 57,722,466	A191E	possibly damaging	Het
Lyplal1	A	G	1: 186,088,660	S197P	possibly damaging	Het
Map4	G	T	9: 110,035,212	V502L	probably benign	Het
Mgat5	A	G	1: 127,384,834	M237V	possibly damaging	Het
Mindy4	A	G	6: 55,216,525	R68G	probably benign	Het
Nell1	T	A	7: 50,258,179	V362E	possibly damaging	Het
Olfr1031	T	A	2: 85,992,430	F204L	probably benign	Het
Olfr792	T	A	10: 129,540,909	I124N	probably damaging	Het
P4ha2	T	C	11: 54,119,253	Y279H	probably benign	Het
Pcid2	A	G	8: 13,100,413	V13A	possibly damaging	Het
Polr2j	T	C	5: 136,122,770	I116T	probably benign	Het
Prdm9	A	G	17: 15,562,945		probably benign	Het
Prr5	T	A	15: 84,703,144	V365E	probably benign	Het
Ptprf	A	T	4: 118,224,930	I1037N	probably damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,219,203		probably benign	Het
Sde2	T	A	1: 180,858,185	C101S	probably damaging	Het
Sec1	T	C	7: 45,679,239	H128R	probably damaging	Het
Serpinb6a	A	T	13: 33,918,781	M253K	probably damaging	Het
Slc22a4	T	G	11: 53,992,053	K328N	probably benign	Het
Slc24a4	A	T	12: 102,234,692	K278N	probably benign	Het
Slc6a21	T	A	7: 45,280,842	W222R	probably damaging	Het
Slc7a2	A	G	8: 40,912,530	E466G	probably benign	Het
Sspo	A	G	6: 48,467,980	T2133A	possibly damaging	Het
Taco1	A	G	11: 106,072,538	M172V	probably benign	Het
Tmem127	T	A	2: 127,256,120	H36Q	probably benign	Het
Tmem229b-ps	C	T	10: 53,475,127		noncoding transcript	Het
Vac14	A	G	8: 110,671,090	D479G	probably benign	Het
Vmn1r176	T	A	7: 23,835,242	K162I	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCCCAGTTCTCTAGGACACC -3'
(R):5'- AGATCCACTCTCACGTCACG -3'

Sequencing Primer
(F):5'- AGATCAAACTCTGGTTAGGCTTGC -3'
(R):5'- ACTCTCACGTCACGCTCGC -3'

Posted On

2015-04-02