Mutagenetix > Incidental Mutation

Incidental Mutation 'R7934:Slc1a4'

648630

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 #

R7934 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20302180-20332713 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20308518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 307 (I307T)

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: I227T

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

SMART Domains

Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
AA Change: I227T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109594
AA Change: I307T

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

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: I307T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	G	A	5: 139,364,015	A93V	probably benign	Het
7420426K07Rik	A	G	9: 98,903,827	R182G	possibly damaging	Het
Abca8b	G	A	11: 109,975,039	T296I	possibly damaging	Het
Adamtsl1	A	C	4: 86,243,725	Y365S	probably damaging	Het
Ambp	T	A	4: 63,149,440	I178F	probably damaging	Het
Ankle1	T	C	8: 71,406,255	V44A	possibly damaging	Het
Arhgef2	A	G	3: 88,629,914	E37G	probably damaging	Het
Atp2a2	A	G	5: 122,461,576	I584T	probably benign	Het
Ccdc171	T	A	4: 83,696,255	L1031*	probably null	Het
Ccdc173	G	A	2: 69,782,106	Q97*	probably null	Het
Cdh17	T	A	4: 11,799,754		probably null	Het
Cdip1	T	C	16: 4,768,558	T203A	probably benign	Het
Ceacam1	C	T	7: 25,463,795	V338I	possibly damaging	Het
Cep78	G	A	19: 15,956,390	T608I	probably damaging	Het
Ces3a	T	A	8: 105,048,713		probably null	Het
Chd7	A	G	4: 8,854,121	T1898A	probably benign	Het
Cpne6	T	C	14: 55,512,609	C66R	possibly damaging	Het
Creb1	G	A	1: 64,570,213	A108T	probably benign	Het
Ctnna3	A	T	10: 64,585,968	I514F	probably damaging	Het
Cyp2c55	T	C	19: 39,042,091	F456L	probably damaging	Het
Cyp2d40	A	G	15: 82,764,011	S34P	probably damaging	Het
Cyp2g1	A	T	7: 26,819,193	T378S	probably damaging	Het
Eif2b3	C	A	4: 117,066,478	Q297K	probably benign	Het
Fbll1	T	C	11: 35,798,221	N72D	unknown	Het
Fev	C	G	1: 74,882,473	R106P	probably damaging	Het
Gal3st1	A	G	11: 3,998,405	Y204C	probably damaging	Het
Gm15130	A	T	2: 111,134,237	L180Q		Het
Gm8693	T	A	7: 22,692,014	T102S	possibly damaging	Het
Greb1l	A	T	18: 10,474,371	K229*	probably null	Het
Haghl	G	T	17: 25,783,545	T214K	probably damaging	Het
Hivep1	A	G	13: 42,154,698	H138R	probably benign	Het
Ighv1-53	G	T	12: 115,158,616	Y46*	probably null	Het
Igsf21	T	C	4: 140,034,444	T308A	possibly damaging	Het
Kcnb1	A	G	2: 167,104,616	S771P	probably benign	Het
Kndc1	T	A	7: 139,921,486	M897K	probably benign	Het
Macf1	T	C	4: 123,473,934	M2345V	possibly damaging	Het
Mettl2	T	C	11: 105,128,947	S137P	probably benign	Het
Mrpl15	A	G	1: 4,774,502	S189P	probably benign	Het
Ndrg2	T	C	14: 51,906,204	Q351R	probably benign	Het
Nox4	A	G	7: 87,295,824	N65S	probably damaging	Het
Olfr351	A	G	2: 36,860,216	I44T	possibly damaging	Het
Olfr404-ps1	C	T	11: 74,240,500	S312F	probably benign	Het
Osbpl11	T	A	16: 33,236,382	W729R	probably damaging	Het
Oxct2b	C	A	4: 123,116,654	C122*	probably null	Het
Pdcl3	A	T	1: 38,987,701		probably benign	Het
Plcg1	A	G	2: 160,774,578	H1294R	possibly damaging	Het
Pnp2	C	A	14: 50,964,446	S296R	probably benign	Het
Ppp1r12c	G	A	7: 4,485,417	Q337*	probably null	Het
Ranbp2	G	A	10: 58,476,475	V1006I	probably damaging	Het
Rxrg	A	G	1: 167,627,358	D170G	probably damaging	Het
Sf3b3	T	C	8: 110,821,530	T691A	probably benign	Het
Slc4a8	G	A	15: 100,787,292	V235I	probably damaging	Het
Srgap3	T	A	6: 112,731,489	I750F	probably damaging	Het
Trim30a	A	T	7: 104,412,241	L282Q	probably damaging	Het
Tshr	A	G	12: 91,511,928	K183R	possibly damaging	Het
Usp38	A	T	8: 80,984,448	L986Q	probably damaging	Het
Vps18	A	G	2: 119,293,641	T350A	probably benign	Het
Zan	T	A	5: 137,463,579	T1113S	unknown	Het
Zbtb37	A	T	1: 161,029,735	S312R	probably damaging	Het
Zeb1	A	G	18: 5,748,703	N90S	probably benign	Het
Zfp715	A	T	7: 43,299,884	Y217*	probably null	Het
Zfp9	T	C	6: 118,464,886	T272A	probably damaging	Het
Zfp943	T	A	17: 21,993,380	H482Q	probably damaging	Het
Zfp971	A	T	2: 178,033,380	K257N	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
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
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'- GCCTCAGTACACAGTGTTCC -3'
(R):5'- AGAAGATCCAGTTGAAAGTCCCTG -3'

Sequencing Primer
(F):5'- TGTTCCCAAGAGAATCACTGGGC -3'
(R):5'- TTGAAAGTCCCTGGGAGGCTC -3'

Posted On

2020-09-15