Mutagenetix > Incidental Mutation

Incidental Mutation 'R6941:Slc1a4'

540558

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

045055-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6941 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20252180-20282713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20254346 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 507 (S507P)

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: S427P

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

SMART Domains

Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
AA Change: S427P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109594
AA Change: S507P

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

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: S507P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.0%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,140,370 (GRCm39)	I1557F	probably damaging	Het
Acad10	A	T	5: 121,787,420 (GRCm39)	D176E	probably damaging	Het
Acta2	A	T	19: 34,229,922 (GRCm39)	V11E	probably damaging	Het
Ampd2	T	C	3: 107,986,609 (GRCm39)	H225R	probably damaging	Het
Arfgef3	A	G	10: 18,501,203 (GRCm39)	Y1016H	possibly damaging	Het
Atg7	C	T	6: 114,650,639 (GRCm39)	T83M	possibly damaging	Het
AU018091	A	G	7: 3,209,267 (GRCm39)		probably null	Het
Birc2	A	G	9: 7,819,469 (GRCm39)	V481A	probably benign	Het
Cabp1	A	T	5: 115,310,960 (GRCm39)	D295E	probably damaging	Het
Cd180	A	T	13: 102,842,699 (GRCm39)	T582S	probably benign	Het
Cnksr3	A	G	10: 7,076,758 (GRCm39)	S145P	probably damaging	Het
Ddx27	A	G	2: 166,857,297 (GRCm39)	D15G	possibly damaging	Het
Dsc1	T	C	18: 20,230,246 (GRCm39)	Y353C	probably benign	Het
Dsg1c	C	T	18: 20,400,980 (GRCm39)	T161I	probably damaging	Het
Epm2a	A	G	10: 11,266,829 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,152,914 (GRCm39)	H3766R	probably benign	Het
Fjx1	A	G	2: 102,280,903 (GRCm39)	V344A	probably benign	Het
Frmd3	A	G	4: 74,016,363 (GRCm39)	I93V	probably benign	Het
Gbe1	TAGTAAGAGT	TAGT	16: 70,230,444 (GRCm39)		probably benign	Het
Gdf15	A	G	8: 71,082,794 (GRCm39)	L104P	possibly damaging	Het
Glra3	G	A	8: 56,393,961 (GRCm39)	R24Q	probably benign	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Ighv1-9	A	T	12: 114,547,448 (GRCm39)	M31K	probably benign	Het
Ipmk	G	A	10: 71,183,920 (GRCm39)	G47S	probably null	Het
Itsn2	T	C	12: 4,679,641 (GRCm39)	I150T	probably benign	Het
Kcnq5	T	C	1: 21,476,068 (GRCm39)	Y545C	probably damaging	Het
Klk1b8	C	A	7: 43,602,213 (GRCm39)	H48Q	possibly damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrrc34	T	C	3: 30,678,969 (GRCm39)	Y376C	probably benign	Het
Mast4	A	T	13: 102,941,222 (GRCm39)	D278E	probably damaging	Het
Mtmr3	T	C	11: 4,437,505 (GRCm39)	Y982C	possibly damaging	Het
Ndst4	T	G	3: 125,403,160 (GRCm39)	H422Q	possibly damaging	Het
Nek7	T	C	1: 138,430,376 (GRCm39)	E206G	probably damaging	Het
Nufip2	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 77,577,122 (GRCm39)		probably benign	Het
Or5b99	T	A	19: 12,976,861 (GRCm39)	N170K	possibly damaging	Het
Pglyrp2	T	C	17: 32,635,048 (GRCm39)	Y438C	probably damaging	Het
Pigr	G	T	1: 130,775,064 (GRCm39)	W497L	probably damaging	Het
Pkd2l2	G	T	18: 34,549,936 (GRCm39)	V194L	probably benign	Het
Ppp1r16b	A	T	2: 158,538,068 (GRCm39)	K5M	probably damaging	Het
Psat1	A	T	19: 15,898,307 (GRCm39)	S35R	probably damaging	Het
Qrfprl	G	A	6: 65,424,385 (GRCm39)	M126I	probably damaging	Het
Rab11fip1	G	A	8: 27,646,303 (GRCm39)	Q258*	probably null	Het
Rad51d	A	G	11: 82,780,623 (GRCm39)	L53P	probably damaging	Het
Rell2	G	A	18: 38,091,341 (GRCm39)	A169T	probably benign	Het
Rnf19b	T	C	4: 128,976,572 (GRCm39)	I545T	probably benign	Het
Slc12a1	G	T	2: 125,055,999 (GRCm39)	E843D	possibly damaging	Het
Slc6a1	G	A	6: 114,290,473 (GRCm39)	W316*	probably null	Het
Spesp1	A	G	9: 62,180,152 (GRCm39)	L252P	probably damaging	Het
Sphkap	G	A	1: 83,385,811 (GRCm39)		probably benign	Het
Srcap	A	G	7: 127,141,769 (GRCm39)	T1850A	probably damaging	Het
Supv3l1	T	C	10: 62,266,365 (GRCm39)	T604A	possibly damaging	Het
Tacr1	A	G	6: 82,380,846 (GRCm39)	T86A	possibly damaging	Het
Tenm3	T	C	8: 49,127,451 (GRCm39)	R76G	probably damaging	Het
Tmprss6	C	A	15: 78,330,977 (GRCm39)	A419S	probably damaging	Het
Usp54	T	G	14: 20,612,177 (GRCm39)	I880L	probably benign	Het
Wwp2	T	A	8: 108,275,134 (GRCm39)	V377D	probably damaging	Het
Zfp735	A	T	11: 73,581,159 (GRCm39)	E65D	probably benign	Het
Zfy2	T	C	Y: 2,121,491 (GRCm39)	E134G	probably benign	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
R2497:Slc1a4	UTSW	11	20,282,620 (GRCm39)	start gained	probably benign
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
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

PCR Primer
(F):5'- GGCAAAGCATTCCTTGGGAG -3'
(R):5'- CCCTGGTGATTCTGGGTATAGC -3'

Sequencing Primer
(F):5'- CATTCCTTGGGAGATGAAAAGTG -3'
(R):5'- TGATTCTGGGTATAGCATTAGTCC -3'

Posted On

2018-11-06