Mutagenetix > Incidental Mutation

Incidental Mutation 'R5533:Slc1a4'

433763

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

043091-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20252180-20282713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20254417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 483 (K483R)

Ref Sequence

ENSEMBL: ENSMUSP00000105223 (fasta)

Gene Model

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

AlphaFold

O35874

Predicted Effect

probably benign
Transcript: ENSMUST00000004634
AA Change: K403R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000004634
Gene: ENSMUSG00000020142
AA Change: K403R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000109594
AA Change: K483R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: K483R

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

Coding Region Coverage

1x: 98.4%
3x: 97.1%
10x: 94.5%
20x: 88.2%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	A	G	10: 126,918,911 (GRCm39)	E429G	probably damaging	Het
Akap12	T	A	10: 4,307,405 (GRCm39)	V1405D	probably damaging	Het
Akap7	C	T	10: 25,159,880 (GRCm39)	D107N	possibly damaging	Het
Arfgef1	A	G	1: 10,269,952 (GRCm39)		probably null	Het
Cacna1s	T	A	1: 136,026,113 (GRCm39)		probably null	Het
Ctsd	T	C	7: 141,931,070 (GRCm39)	Q274R	probably benign	Het
Dysf	G	A	6: 84,163,453 (GRCm39)	R1575Q	probably damaging	Het
Erich6b	A	T	14: 75,896,274 (GRCm39)	L53F	possibly damaging	Het
Exoc6	A	C	19: 37,582,218 (GRCm39)		probably null	Het
Fbxw19	A	T	9: 109,315,133 (GRCm39)	V143E	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fndc1	A	G	17: 7,991,608 (GRCm39)	F696S	unknown	Het
Foxa3	G	T	7: 18,748,940 (GRCm39)	Y102*	probably null	Het
Foxn1	A	G	11: 78,256,792 (GRCm39)	M301T	probably damaging	Het
Foxp2	C	T	6: 15,197,119 (GRCm39)	Q54*	probably null	Het
Glra1	T	C	11: 55,423,208 (GRCm39)	E117G	possibly damaging	Het
Glt1d1	A	T	5: 127,768,095 (GRCm39)	D234V	probably damaging	Het
Golm2	AGATGGTGATGGTG	AGATGGTG	2: 121,756,178 (GRCm39)		probably benign	Het
Gulp1	T	C	1: 44,812,441 (GRCm39)	I137T	probably damaging	Het
Itga8	A	G	2: 12,165,161 (GRCm39)	V816A	possibly damaging	Het
Kdm4c	G	A	4: 74,233,886 (GRCm39)		probably benign	Het
Krtap19-2	A	G	16: 88,670,996 (GRCm39)		probably benign	Het
Lcorl	T	C	5: 45,891,219 (GRCm39)	N378S	possibly damaging	Het
Ltbr	G	A	6: 125,289,757 (GRCm39)	R146W	probably damaging	Het
Mocos	T	C	18: 24,807,357 (GRCm39)	L363P	probably damaging	Het
Mycbp2	G	T	14: 103,520,081 (GRCm39)	Y745*	probably null	Het
Nav3	A	C	10: 109,719,539 (GRCm39)	N141K	possibly damaging	Het
Ncor1	T	C	11: 62,233,837 (GRCm39)	N779S	probably benign	Het
Nebl	G	T	2: 17,398,079 (GRCm39)	Y414*	probably null	Het
Nf1	T	G	11: 79,336,615 (GRCm39)	C1065G	probably damaging	Het
Nfib	A	G	4: 82,278,004 (GRCm39)	V216A	probably damaging	Het
Nub1	A	T	5: 24,907,379 (GRCm39)	N354I	possibly damaging	Het
Nyap1	C	T	5: 137,733,726 (GRCm39)	V436I	probably benign	Het
Or5m11b	A	G	2: 85,805,797 (GRCm39)	D70G	possibly damaging	Het
Or5p73	T	C	7: 108,065,469 (GRCm39)	F313L	probably benign	Het
Pde2a	T	A	7: 101,155,187 (GRCm39)	M570K	probably damaging	Het
Pfas	T	C	11: 68,882,296 (GRCm39)	S856G	probably benign	Het
Pkd1l2	T	C	8: 117,794,855 (GRCm39)	E368G	probably benign	Het
Ptf1a	G	A	2: 19,451,969 (GRCm39)	V323M	probably damaging	Het
Ptprh	T	C	7: 4,552,504 (GRCm39)	Y920C	probably damaging	Het
Sergef	T	A	7: 46,264,200 (GRCm39)	D229V	possibly damaging	Het
Slc26a6	G	A	9: 108,735,155 (GRCm39)	R351H	probably damaging	Het
Slc6a19	G	A	13: 73,833,948 (GRCm39)	T370I	possibly damaging	Het
Smpd5	T	C	15: 76,178,757 (GRCm39)	S42P	possibly damaging	Het
Snx13	G	A	12: 35,173,025 (GRCm39)		probably null	Het
Sox10	G	A	15: 79,040,502 (GRCm39)	S185L	probably benign	Het
Spata31e5	T	A	1: 28,817,163 (GRCm39)	I290F	probably damaging	Het
Srpk1	T	C	17: 28,821,733 (GRCm39)	Y227C	probably damaging	Het
Stambpl1	T	A	19: 34,211,316 (GRCm39)		probably null	Het
Stk36	A	G	1: 74,665,750 (GRCm39)	R698G	possibly damaging	Het
Tas2r122	T	A	6: 132,688,393 (GRCm39)	T167S	probably damaging	Het
Tlr12	A	G	4: 128,509,656 (GRCm39)	S865P	probably damaging	Het
Trp53bp1	A	G	2: 121,038,227 (GRCm39)	L1537P	probably damaging	Het
Vstm2a	C	A	11: 16,213,125 (GRCm39)	T170K	possibly damaging	Het
Xpo7	A	T	14: 70,931,407 (GRCm39)	F304I	probably damaging	Het
Zfp286	T	C	11: 62,671,796 (GRCm39)		probably benign	Het
Zfp985	A	T	4: 147,667,440 (GRCm39)	K103*	probably null	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
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

PCR Primer
(F):5'- ACATCAATGGGGCAGGCTAC -3'
(R):5'- ACAAGTCAATTTCCCTGTGGC -3'

Sequencing Primer
(F):5'- TGCTGGTACTGGCAGGC -3'
(R):5'- CCACCAGCCTGCTTGTGATAG -3'

Posted On

2016-10-06