Mutagenetix > Incidental Mutation

Incidental Mutation 'R9280:Slc1a4'

703574

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 #

R9280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20252180-20282713 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20282325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 50 (S50P)

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 damaging
Transcript: ENSMUST00000109594
AA Change: S50P

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

SMART Domains

Protein: ENSMUSP00000105223
Gene: ENSMUSG00000020142
AA Change: S50P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (63/63)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	G	T	6: 125,039,938 (GRCm39)	V514L	probably damaging	Het
Actl11	A	G	9: 107,808,573 (GRCm39)	I965M	probably damaging	Het
Ank3	A	T	10: 69,818,021 (GRCm39)	S1468C	possibly damaging	Het
Aoc1l1	A	G	6: 48,955,116 (GRCm39)	D652G	possibly damaging	Het
Apobec3	A	C	15: 79,791,082 (GRCm39)	N392T		Het
Ccdc33	A	T	9: 57,965,549 (GRCm39)	M591K	probably benign	Het
Ccdc39	T	C	3: 33,870,153 (GRCm39)	E689G	probably damaging	Het
Cnot1	A	T	8: 96,497,227 (GRCm39)	M250K	probably benign	Het
Crppa	T	A	12: 36,571,975 (GRCm39)	S344R	probably benign	Het
Ctbs	A	T	3: 146,160,142 (GRCm39)	Y57F	probably damaging	Het
Dchs2	A	G	3: 83,189,255 (GRCm39)	I1540V	possibly damaging	Het
Dnah8	A	T	17: 31,004,071 (GRCm39)	Q3651H	possibly damaging	Het
Eif2a	A	G	3: 58,447,009 (GRCm39)		probably benign	Het
Entpd2	A	G	2: 25,289,511 (GRCm39)	N331S	possibly damaging	Het
F830045P16Rik	G	A	2: 129,314,774 (GRCm39)	P168S	probably damaging	Het
Fam76b	A	T	9: 13,751,012 (GRCm39)	H302L	possibly damaging	Het
Fancm	A	G	12: 65,153,612 (GRCm39)	E1356G	probably benign	Het
Fat2	G	A	11: 55,201,523 (GRCm39)	T517I	probably benign	Het
Glul	T	C	1: 153,783,611 (GRCm39)	C269R	probably benign	Het
Gm3404	C	T	5: 146,462,756 (GRCm39)	H40Y	possibly damaging	Het
Grb7	T	C	11: 98,345,248 (GRCm39)	F435S	probably damaging	Het
Ide	A	T	19: 37,295,490 (GRCm39)	Y191N		Het
Ide	T	C	19: 37,307,801 (GRCm39)		probably benign	Het
Ighv6-3	T	A	12: 114,355,420 (GRCm39)	T90S	probably damaging	Het
Il23r	A	G	6: 67,429,410 (GRCm39)	C311R	probably damaging	Het
Ilf2	A	G	3: 90,394,922 (GRCm39)	E390G	unknown	Het
Ints1	C	T	5: 139,750,469 (GRCm39)	C896Y	probably damaging	Het
Ipcef1	T	C	10: 6,850,736 (GRCm39)	E289G	probably benign	Het
Kbtbd2	G	A	6: 56,755,997 (GRCm39)	R580W	probably damaging	Het
Kif21b	T	C	1: 136,099,445 (GRCm39)		probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mmp27	A	T	9: 7,579,812 (GRCm39)	I429L	probably benign	Het
Mmp8	A	G	9: 7,567,292 (GRCm39)	D431G	possibly damaging	Het
Mpeg1	A	G	19: 12,439,828 (GRCm39)	T429A	probably benign	Het
Mterf1a	A	T	5: 3,941,539 (GRCm39)	Y110N	probably damaging	Het
Myh4	G	A	11: 67,146,135 (GRCm39)	A1398T	probably damaging	Het
Nr3c2	T	A	8: 77,635,973 (GRCm39)	M358K	probably benign	Het
Nup50l	A	C	6: 96,141,982 (GRCm39)	L354R	probably damaging	Het
Or5d14	A	T	2: 87,880,458 (GRCm39)	F170Y	probably damaging	Het
Or5g25	G	A	2: 85,478,504 (GRCm39)	R54*	probably null	Het
Or7e173	A	C	9: 19,938,639 (GRCm39)	S198R	probably benign	Het
Otof	A	G	5: 30,528,894 (GRCm39)	F1838S	probably damaging	Het
Pappa2	G	A	1: 158,675,533 (GRCm39)	T1071I	possibly damaging	Het
Pcdhb15	A	G	18: 37,607,794 (GRCm39)	D342G	probably damaging	Het
Pcdhgb7	T	C	18: 37,886,585 (GRCm39)	L585P	probably damaging	Het
Pde1c	A	T	6: 56,114,505 (GRCm39)	S469R	probably benign	Het
Pla2g6	A	G	15: 79,197,314 (GRCm39)	F87L	probably benign	Het
Rag2	A	T	2: 101,460,145 (GRCm39)	M152L	probably benign	Het
Rasa1	C	T	13: 85,436,732 (GRCm39)	A99T	unknown	Het
Rasgrp1	T	C	2: 117,113,132 (GRCm39)	N760S	probably benign	Het
Rgsl1	A	T	1: 153,669,898 (GRCm39)	M232K	probably benign	Het
Ryr1	G	A	7: 28,802,389 (GRCm39)	H744Y	probably damaging	Het
Slc25a36	A	C	9: 96,982,233 (GRCm39)	L34R	probably damaging	Het
Slc39a12	A	T	2: 14,401,003 (GRCm39)	I127F	probably benign	Het
Slco1a8	A	G	6: 141,939,978 (GRCm39)	L175P	possibly damaging	Het
Sntb1	T	C	15: 55,769,771 (GRCm39)	T73A	probably benign	Het
Tbc1d14	T	C	5: 36,680,268 (GRCm39)		probably benign	Het
Tll2	T	A	19: 41,077,309 (GRCm39)	E819V	possibly damaging	Het
Trappc13	C	T	13: 104,290,809 (GRCm39)	A181T	probably benign	Het
Trbj1-1	A	G	6: 41,510,830 (GRCm39)	R11G		Het
Ubash3b	A	C	9: 41,072,877 (GRCm39)	I12S	unknown	Het
Usp37	T	C	1: 74,489,699 (GRCm39)	K828E	probably damaging	Het
Usp8	G	C	2: 126,561,944 (GRCm39)	S46T	unknown	Het
Zfp418	A	G	7: 7,184,408 (GRCm39)	T124A	possibly damaging	Het
Zfp87	T	C	13: 74,520,803 (GRCm39)	T92A	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
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
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'- GTAAGCAACAGCGATGCCAC -3'
(R):5'- AGTTCCTTGAGTGTTACCGC -3'

Sequencing Primer
(F):5'- AGCGATGCCACCCAGACG -3'
(R):5'- CCTTGAGTGTTACCGCTTAGAGC -3'

Posted On

2022-03-25