Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00229:Slc38a4'

2121

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc38a4

Ensembl Gene

ENSMUSG00000022464

Gene Name

solute carrier family 38, member 4

Synonyms

1700012A18Rik, Ata3, 1110012E16Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

IGL00229

Quality Score

Status

Chromosome

Chromosomal Location

96994820-97055956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96999494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 480 (F480S)

Ref Sequence

ENSEMBL: ENSMUSP00000155158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023101] [ENSMUST00000166223] [ENSMUST00000230086] [ENSMUST00000231039]

AlphaFold

Q8R1S9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023101
AA Change: F480S

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

SMART Domains

Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: F480S

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	73	263	4.9e-38	PFAM
Pfam:Aa_trans	302	535	2.1e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166223
AA Change: F480S

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

SMART Domains

Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: F480S

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	73	262	2.5e-38	PFAM
Pfam:Aa_trans	303	535	2.5e-45	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000230086
AA Change: F480S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000231039
AA Change: F480S

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

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,199,500 (GRCm38)		probably benign	Het
9030624J02Rik	T	A	7: 118,804,191 (GRCm38)		probably benign	Het
Abca4	A	G	3: 122,170,954 (GRCm38)	T929A	probably damaging	Het
Adam6b	G	A	12: 113,491,393 (GRCm38)	R610H	probably damaging	Het
Adamts12	T	A	15: 11,311,599 (GRCm38)	M1314K	probably benign	Het
Alg6	T	A	4: 99,753,054 (GRCm38)	F152I	probably damaging	Het
Arid5b	A	G	10: 68,128,975 (GRCm38)	S289P	probably damaging	Het
Axin1	T	C	17: 26,194,072 (GRCm38)	F780L	probably damaging	Het
C87499	A	G	4: 88,629,053 (GRCm38)	I214T	probably damaging	Het
C9	C	T	15: 6,483,231 (GRCm38)	S278L	possibly damaging	Het
Calr4	A	T	4: 109,244,115 (GRCm38)	I65F	probably damaging	Het
Cdh23	A	G	10: 60,523,548 (GRCm38)	V260A	probably benign	Het
Ddx25	T	C	9: 35,543,595 (GRCm38)		probably benign	Het
Dppa4	A	G	16: 48,291,083 (GRCm38)	T92A	possibly damaging	Het
Ercc5	T	C	1: 44,163,898 (GRCm38)	Y232H	probably damaging	Het
Exoc4	A	G	6: 33,918,399 (GRCm38)		probably null	Het
Fam149a	A	G	8: 45,351,786 (GRCm38)	V253A	probably damaging	Het
Fam209	C	T	2: 172,474,182 (GRCm38)	T159I	probably damaging	Het
Gcfc2	A	T	6: 81,936,015 (GRCm38)	N265I	probably damaging	Het
Glud1	T	C	14: 34,336,130 (GRCm38)	V366A	probably benign	Het
Hdac10	T	C	15: 89,128,442 (GRCm38)	T3A	probably damaging	Het
Ifnar1	T	C	16: 91,489,782 (GRCm38)	S54P	probably damaging	Het
Itpr2	T	C	6: 146,144,185 (GRCm38)	Y2561C	probably damaging	Het
Klhl30	A	G	1: 91,354,157 (GRCm38)	E160G	possibly damaging	Het
Kmt2d	A	T	15: 98,862,333 (GRCm38)	S1015T	unknown	Het
Lactb2	A	G	1: 13,660,374 (GRCm38)	M26T	probably damaging	Het
Lactbl1	A	T	4: 136,631,051 (GRCm38)	D111V	probably damaging	Het
Lig4	T	C	8: 9,972,775 (GRCm38)	Y335C	probably damaging	Het
Lrrc8e	T	A	8: 4,235,921 (GRCm38)	D715E	probably benign	Het
Med6	A	T	12: 81,579,574 (GRCm38)	V142D	possibly damaging	Het
Men1	G	A	19: 6,337,207 (GRCm38)		probably null	Het
Mettl13	A	G	1: 162,535,865 (GRCm38)	V600A	possibly damaging	Het
Mpdz	A	T	4: 81,310,224 (GRCm38)	C1314*	probably null	Het
Nbeal2	A	G	9: 110,635,869 (GRCm38)	V1009A	probably damaging	Het
Nmur2	A	G	11: 56,040,777 (GRCm38)	L36P	probably damaging	Het
Nudt2	T	A	4: 41,480,474 (GRCm38)	L119Q	probably damaging	Het
Olfr1472	T	C	19: 13,453,840 (GRCm38)	M226V	possibly damaging	Het
Osbpl3	C	T	6: 50,323,068 (GRCm38)	E519K	probably damaging	Het
Pak6	A	T	2: 118,689,845 (GRCm38)	T106S	possibly damaging	Het
Pggt1b	T	G	18: 46,280,719 (GRCm38)	Q34P	probably benign	Het
Phactr4	T	C	4: 132,370,992 (GRCm38)	T322A	possibly damaging	Het
Plekhj1	T	C	10: 80,796,602 (GRCm38)		probably null	Het
Pnpt1	T	C	11: 29,154,217 (GRCm38)		probably null	Het
Prr14l	T	C	5: 32,830,676 (GRCm38)	I492V	probably benign	Het
Ranbp2	C	A	10: 58,477,256 (GRCm38)	A1266E	probably damaging	Het
Riok3	G	A	18: 12,137,020 (GRCm38)	D140N	probably damaging	Het
Rsph4a	G	A	10: 33,914,343 (GRCm38)	E643K	probably damaging	Het
Scara3	T	G	14: 65,933,121 (GRCm38)	E103A	probably benign	Het
Sgk3	T	C	1: 9,868,384 (GRCm38)	V33A	probably damaging	Het
Slc44a1	G	A	4: 53,543,571 (GRCm38)	V372M	probably damaging	Het
Slc9a2	A	G	1: 40,767,737 (GRCm38)	Y728C	probably benign	Het
Sox4	C	A	13: 28,952,973 (GRCm38)	G17W	probably damaging	Het
Spidr	A	T	16: 15,895,578 (GRCm38)	L847Q	probably damaging	Het
Sptb	A	G	12: 76,620,753 (GRCm38)	S857P	probably benign	Het
Syde1	A	G	10: 78,585,809 (GRCm38)	V636A	probably damaging	Het
Syna	A	G	5: 134,559,717 (GRCm38)	L126P	possibly damaging	Het
Taar2	A	G	10: 23,941,368 (GRCm38)	T269A	possibly damaging	Het
Tapbp	C	T	17: 33,925,704 (GRCm38)	T258I	probably damaging	Het
Tcf20	T	A	15: 82,857,142 (GRCm38)	Q36L	possibly damaging	Het
Tmem131l	A	T	3: 83,942,500 (GRCm38)	M260K	probably damaging	Het
Tnc	T	A	4: 64,016,824 (GRCm38)		probably benign	Het
Ugp2	T	A	11: 21,354,345 (GRCm38)	E27D	probably benign	Het
Wdr27	A	T	17: 14,928,310 (GRCm38)	C140*	probably null	Het
Wnt2b	T	C	3: 104,953,133 (GRCm38)	T153A	possibly damaging	Het
Xirp2	A	T	2: 67,513,375 (GRCm38)	T1987S	probably benign	Het
Zfp36l1	C	A	12: 80,110,464 (GRCm38)	G48C	probably damaging	Het
Zfp474	A	T	18: 52,638,493 (GRCm38)	I73F	possibly damaging	Het
Zfp790	T	A	7: 29,828,563 (GRCm38)	F224L	probably benign	Het

Other mutations in Slc38a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Slc38a4	APN	15	97,019,809 (GRCm38)	missense	probably benign	0.01
IGL00974:Slc38a4	APN	15	96,999,516 (GRCm38)	missense	probably benign	0.05
IGL01951:Slc38a4	APN	15	97,019,763 (GRCm38)	missense	probably benign	0.07
R0012:Slc38a4	UTSW	15	96,999,629 (GRCm38)	missense	probably damaging	1.00
R0012:Slc38a4	UTSW	15	96,999,629 (GRCm38)	missense	probably damaging	1.00
R0165:Slc38a4	UTSW	15	97,008,949 (GRCm38)	missense	probably benign	0.00
R0304:Slc38a4	UTSW	15	97,008,454 (GRCm38)	missense	probably damaging	1.00
R0543:Slc38a4	UTSW	15	97,016,839 (GRCm38)	missense	possibly damaging	0.52
R0973:Slc38a4	UTSW	15	97,005,858 (GRCm38)	missense	probably benign	0.04
R0973:Slc38a4	UTSW	15	97,005,858 (GRCm38)	missense	probably benign	0.04
R0974:Slc38a4	UTSW	15	97,005,858 (GRCm38)	missense	probably benign	0.04
R1340:Slc38a4	UTSW	15	97,010,272 (GRCm38)	splice site	probably benign
R1973:Slc38a4	UTSW	15	96,999,597 (GRCm38)	missense	probably benign	0.36
R2058:Slc38a4	UTSW	15	97,008,725 (GRCm38)	missense	probably benign	0.22
R2083:Slc38a4	UTSW	15	97,008,993 (GRCm38)	missense	probably benign	0.00
R2108:Slc38a4	UTSW	15	97,008,997 (GRCm38)	missense	probably benign
R3908:Slc38a4	UTSW	15	97,012,994 (GRCm38)	critical splice acceptor site	probably null
R4037:Slc38a4	UTSW	15	96,997,042 (GRCm38)	missense	probably benign	0.03
R4259:Slc38a4	UTSW	15	96,998,493 (GRCm38)	missense	probably damaging	1.00
R4260:Slc38a4	UTSW	15	96,998,493 (GRCm38)	missense	probably damaging	1.00
R4261:Slc38a4	UTSW	15	96,998,493 (GRCm38)	missense	probably damaging	1.00
R4370:Slc38a4	UTSW	15	97,009,084 (GRCm38)	missense	possibly damaging	0.48
R4435:Slc38a4	UTSW	15	97,009,018 (GRCm38)	missense	probably benign
R5289:Slc38a4	UTSW	15	97,010,348 (GRCm38)	missense	possibly damaging	0.72
R5638:Slc38a4	UTSW	15	97,012,990 (GRCm38)	missense	probably damaging	0.99
R5893:Slc38a4	UTSW	15	96,999,551 (GRCm38)	missense	probably benign	0.23
R7059:Slc38a4	UTSW	15	97,009,014 (GRCm38)	nonsense	probably null
R7223:Slc38a4	UTSW	15	97,010,345 (GRCm38)	missense	probably damaging	1.00
R7267:Slc38a4	UTSW	15	97,005,900 (GRCm38)	missense	probably benign	0.01
R7768:Slc38a4	UTSW	15	97,008,664 (GRCm38)	missense	probably damaging	1.00
R7903:Slc38a4	UTSW	15	97,008,928 (GRCm38)	missense	probably benign	0.03
R8314:Slc38a4	UTSW	15	97,010,309 (GRCm38)	missense	probably benign	0.10
R8385:Slc38a4	UTSW	15	96,999,512 (GRCm38)	missense	probably damaging	1.00
R8822:Slc38a4	UTSW	15	97,009,071 (GRCm38)	missense	probably benign	0.12
R8955:Slc38a4	UTSW	15	97,016,781 (GRCm38)	missense	probably benign
R8962:Slc38a4	UTSW	15	97,019,803 (GRCm38)	missense	probably benign	0.00
R9000:Slc38a4	UTSW	15	96,999,594 (GRCm38)	missense	possibly damaging	0.48
R9043:Slc38a4	UTSW	15	97,008,924 (GRCm38)	missense	possibly damaging	0.93
R9760:Slc38a4	UTSW	15	96,998,451 (GRCm38)	missense	probably damaging	1.00
R9786:Slc38a4	UTSW	15	97,008,497 (GRCm38)	missense	probably damaging	0.99

Posted On

2011-12-09