Mutagenetix > Incidental Mutation

Incidental Mutation 'R0165:Slc38a4'

24130

Institutional Source

Beutler Lab

Gene Symbol

Slc38a4

Ensembl Gene

ENSMUSG00000022464

Gene Name

solute carrier family 38, member 4

Synonyms

1700012A18Rik, Ata3, 1110012E16Rik

MMRRC Submission

038441-MU

Accession Numbers

Essential gene?

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

Stock #

R0165 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

96994820-97055956 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 97008949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 303 (A303S)

Ref Sequence

ENSEMBL: ENSMUSP00000155158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023101] [ENSMUST00000166223] [ENSMUST00000230086] [ENSMUST00000230907] [ENSMUST00000231039]

AlphaFold

Q8R1S9

Predicted Effect

probably benign
Transcript: ENSMUST00000023101
AA Change: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000023101
Gene: ENSMUSG00000022464
AA Change: A303S

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 benign
Transcript: ENSMUST00000166223
AA Change: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127676
Gene: ENSMUSG00000022464
AA Change: A303S

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 benign
Transcript: ENSMUST00000230086
AA Change: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000230907

Predicted Effect

probably benign
Transcript: ENSMUST00000231039
AA Change: A303S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.5%
10x: 96.2%
20x: 91.4%

Validation Efficiency

96% (81/84)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	G	A	15: 8,216,382 (GRCm38)	V1413M	probably damaging	Het
2700049A03Rik	T	C	12: 71,167,150 (GRCm38)	I717T	possibly damaging	Het
3632451O06Rik	A	G	14: 49,773,786 (GRCm38)	S155P	probably benign	Het
6430571L13Rik	A	G	9: 107,346,184 (GRCm38)		probably benign	Het
Abca15	T	A	7: 120,350,903 (GRCm38)		probably benign	Het
Abca6	A	G	11: 110,219,604 (GRCm38)	V573A	possibly damaging	Het
Adgrl2	A	G	3: 148,852,863 (GRCm38)		probably benign	Het
Agap3	A	G	5: 24,479,745 (GRCm38)	T544A	probably damaging	Het
Ahrr	G	A	13: 74,283,024 (GRCm38)		probably benign	Het
Akr1c20	T	C	13: 4,523,296 (GRCm38)	T7A	probably benign	Het
Ankrd26	A	G	6: 118,540,484 (GRCm38)	S459P	probably benign	Het
Ascc3	T	A	10: 50,842,127 (GRCm38)		probably null	Het
Brd1	T	C	15: 88,729,777 (GRCm38)	N305S	probably damaging	Het
Catip	T	A	1: 74,368,469 (GRCm38)	L320Q	possibly damaging	Het
Cttnbp2	G	A	6: 18,435,410 (GRCm38)	Q150*	probably null	Het
Cyp2d22	T	G	15: 82,373,280 (GRCm38)	N228T	probably benign	Het
Dapk1	T	C	13: 60,761,593 (GRCm38)	V1340A	probably benign	Het
Dcaf4	G	A	12: 83,535,988 (GRCm38)		probably benign	Het
Ddhd1	G	A	14: 45,595,592 (GRCm38)	T849M	probably damaging	Het
Dnah6	A	G	6: 73,021,323 (GRCm38)	S3987P	probably benign	Het
Dst	C	A	1: 34,154,646 (GRCm38)		probably benign	Het
Epha2	T	C	4: 141,321,892 (GRCm38)		probably null	Het
Ern2	T	C	7: 122,179,779 (GRCm38)	T281A	probably benign	Het
Extl1	A	G	4: 134,357,703 (GRCm38)	F652S	probably damaging	Het
Gckr	A	G	5: 31,326,948 (GRCm38)	S541G	possibly damaging	Het
Gdap1l1	A	G	2: 163,451,499 (GRCm38)		probably null	Het
Gm7535	T	C	17: 17,911,175 (GRCm38)		probably benign	Het
Gmps	T	A	3: 63,993,954 (GRCm38)	I398N	probably damaging	Het
Igf2r	A	G	17: 12,698,527 (GRCm38)	V1556A	probably benign	Het
Il3ra	T	A	14: 14,350,967 (GRCm38)	N283K	probably benign	Het
Ist1	A	G	8: 109,675,366 (GRCm38)		probably benign	Het
Lama3	A	T	18: 12,524,810 (GRCm38)	I1934F	probably damaging	Het
Lars	A	T	18: 42,202,697 (GRCm38)	M1118K	possibly damaging	Het
Lpin2	C	T	17: 71,246,519 (GRCm38)	S846L	probably damaging	Het
Lrrc4b	C	A	7: 44,462,315 (GRCm38)	T537K	probably damaging	Het
Ltn1	G	A	16: 87,405,519 (GRCm38)		probably benign	Het
Meiob	A	G	17: 24,835,161 (GRCm38)	T401A	probably benign	Het
Mettl21e	G	A	1: 44,211,123 (GRCm38)	T41M	probably damaging	Het
Miga1	C	T	3: 152,290,843 (GRCm38)	E323K	probably damaging	Het
Ndufs1	A	T	1: 63,159,748 (GRCm38)		probably null	Het
Olfr486	T	C	7: 108,172,675 (GRCm38)	D23G	probably benign	Het
Otog	G	A	7: 46,304,231 (GRCm38)	V2638M	probably damaging	Het
Parp6	T	C	9: 59,632,925 (GRCm38)	Y274H	probably damaging	Het
Prom2	A	T	2: 127,539,514 (GRCm38)		probably benign	Het
Prune2	T	A	19: 17,122,610 (GRCm38)	M1826K	probably benign	Het
Qk	T	A	17: 10,238,963 (GRCm38)	D159V	probably damaging	Het
Rab12	A	T	17: 66,500,317 (GRCm38)	I139N	probably damaging	Het
Rab25	T	A	3: 88,548,055 (GRCm38)	E7D	probably benign	Het
Rala	A	T	13: 17,888,589 (GRCm38)	V139E	probably benign	Het
Ralgapa2	A	G	2: 146,388,487 (GRCm38)		probably benign	Het
Rbl2	T	A	8: 91,074,176 (GRCm38)	Y89N	probably damaging	Het
Rho	A	T	6: 115,932,227 (GRCm38)	I75F	probably damaging	Het
Slc6a15	A	G	10: 103,409,809 (GRCm38)	D551G	probably null	Het
Smyd3	T	C	1: 179,043,872 (GRCm38)	N314S	probably benign	Het
Speer4f1	T	A	5: 17,479,514 (GRCm38)	L180*	probably null	Het
Stat6	T	C	10: 127,657,227 (GRCm38)	V576A	probably damaging	Het
Strn	T	C	17: 78,677,374 (GRCm38)	D127G	possibly damaging	Het
Syne1	T	C	10: 5,033,096 (GRCm38)	R8610G	probably benign	Het
Tbc1d7	A	C	13: 43,153,202 (GRCm38)		probably null	Het
Tcf3	C	T	10: 80,412,997 (GRCm38)	R548Q	probably damaging	Het
Tlr9	C	A	9: 106,226,087 (GRCm38)	A859D	probably benign	Het
Tmem106c	T	A	15: 97,968,139 (GRCm38)		probably benign	Het
Tmprss11c	A	T	5: 86,231,927 (GRCm38)		probably benign	Het
Tnfsf18	A	G	1: 161,494,731 (GRCm38)	R7G	probably benign	Het
Tnrc6b	T	A	15: 80,858,670 (GRCm38)		probably null	Het
Trpm7	A	T	2: 126,797,513 (GRCm38)	F1684I	probably damaging	Het
Ttbk1	C	A	17: 46,478,938 (GRCm38)	R133L	possibly damaging	Het
Ttn	A	G	2: 76,721,342 (GRCm38)	S22962P	probably damaging	Het
Ube2q1	T	A	3: 89,776,153 (GRCm38)	L135Q	probably damaging	Het
Vmn1r28	G	A	6: 58,265,717 (GRCm38)	A182T	probably benign	Het
Vwce	T	C	19: 10,659,973 (GRCm38)		probably benign	Het
Wdhd1	A	G	14: 47,267,068 (GRCm38)	S350P	probably benign	Het
Zbtb21	A	G	16: 97,951,404 (GRCm38)	S560P	probably damaging	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
IGL00229:Slc38a4	APN	15	96,999,494 (GRCm38)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCTGCCTTACTCTTTAAGCTCG -3'
(R):5'- TGCCTGCTCTGGATCACAACAAC -3'

Sequencing Primer
(F):5'- TGCATAGGCCGTCTGTAAAAC -3'
(R):5'- AACAACGGAAATCTGACGTTC -3'

Posted On

2013-04-16