Mutagenetix > Incidental Mutation

Incidental Mutation 'R7425:Slc38a8'

575993

Institutional Source

Beutler Lab

Gene Symbol

Slc38a8

Ensembl Gene

ENSMUSG00000034224

Gene Name

solute carrier family 38, member 8

Synonyms

LOC234788

MMRRC Submission

045503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120206341-120228437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120212327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 339 (S339P)

Ref Sequence

ENSEMBL: ENSMUSP00000038438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036748]

AlphaFold

Q5HZH7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036748
AA Change: S339P

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038438
Gene: ENSMUSG00000034224
AA Change: S339P

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	22	429	3.7e-58	PFAM
Pfam:Trp_Tyr_perm	23	264	1.1e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,456 (GRCm39)	E215G	probably benign	Het
Adam8	T	A	7: 139,572,394 (GRCm39)		probably benign	Het
Ankrd35	A	G	3: 96,592,104 (GRCm39)	S797G	not run	Het
Anxa3	T	A	5: 96,982,680 (GRCm39)	H259Q	probably benign	Het
Ap3d1	T	A	10: 80,557,426 (GRCm39)	Q302L	probably damaging	Het
Atg2a	T	C	19: 6,305,682 (GRCm39)	V1294A	probably benign	Het
Atp13a5	G	A	16: 29,116,278 (GRCm39)	Q613*	probably null	Het
Bltp1	T	A	3: 37,002,490 (GRCm39)	H1478Q	probably benign	Het
Bltp1	A	T	3: 37,037,543 (GRCm39)	H2448L	probably benign	Het
Bmpr2	T	G	1: 59,906,510 (GRCm39)	N534K	probably benign	Het
C1qbp	T	C	11: 70,869,072 (GRCm39)		probably null	Het
C1qbp	G	T	11: 70,869,073 (GRCm39)		probably null	Het
C1ql3	T	G	2: 13,015,229 (GRCm39)	K144Q	possibly damaging	Het
C3	T	C	17: 57,511,039 (GRCm39)	M1656V	possibly damaging	Het
Cand1	A	T	10: 119,052,148 (GRCm39)	Y252N	probably benign	Het
Capn13	T	C	17: 73,625,053 (GRCm39)	I632M	probably benign	Het
Catsperb	A	G	12: 101,557,757 (GRCm39)	E776G	probably damaging	Het
Ccnl1	A	T	3: 65,856,179 (GRCm39)	V242D	probably damaging	Het
Cd68	T	C	11: 69,555,938 (GRCm39)	D200G	probably benign	Het
Cela3a	T	C	4: 137,132,899 (GRCm39)	N118D	probably benign	Het
Celsr2	A	G	3: 108,309,773 (GRCm39)	C1609R	probably damaging	Het
Cep85l	G	C	10: 53,177,666 (GRCm39)	Q458E	probably damaging	Het
Cnga1	T	G	5: 72,766,868 (GRCm39)	E190D	probably benign	Het
Cntnap3	G	A	13: 64,906,066 (GRCm39)	R847C	probably damaging	Het
Cntrob	G	A	11: 69,205,560 (GRCm39)	Q425*	probably null	Het
Commd9	G	A	2: 101,730,245 (GRCm39)	W128*	probably null	Het
Csnk1a1	C	T	18: 61,718,330 (GRCm39)	S352L	unknown	Het
Dact2	A	G	17: 14,416,593 (GRCm39)	S536P	probably damaging	Het
Ddx25	A	G	9: 35,465,882 (GRCm39)	I113T	probably benign	Het
Dscam	T	A	16: 96,430,598 (GRCm39)	D1630V	probably damaging	Het
Fndc7	A	C	3: 108,783,975 (GRCm39)	F211L	probably benign	Het
Fryl	T	C	5: 73,262,091 (GRCm39)	T559A	probably damaging	Het
Hpx	C	A	7: 105,241,068 (GRCm39)	D402Y	probably damaging	Het
Ints13	A	G	6: 146,476,198 (GRCm39)		probably null	Het
Ipcef1	T	C	10: 6,906,066 (GRCm39)	K76E	probably damaging	Het
Kcnb2	A	C	1: 15,780,031 (GRCm39)	Q301P	probably damaging	Het
Lamp3	C	T	16: 19,518,362 (GRCm39)		probably null	Het
Lmod2	A	T	6: 24,603,475 (GRCm39)	H150L	probably benign	Het
Lrch3	T	C	16: 32,826,077 (GRCm39)	F718S	probably damaging	Het
Mms22l	T	C	4: 24,596,287 (GRCm39)	V1082A	probably benign	Het
Nbas	G	T	12: 13,519,881 (GRCm39)	V1598L	probably damaging	Het
Nrxn3	C	T	12: 89,479,870 (GRCm39)	R671*	probably null	Het
Or4c110	A	T	2: 88,832,544 (GRCm39)	F29L		Het
Or4c58	A	G	2: 89,674,789 (GRCm39)	L176P	probably damaging	Het
Or52e8	A	T	7: 104,624,268 (GRCm39)	L312*	probably null	Het
Or5a3	A	C	19: 12,400,204 (GRCm39)	H177P	probably damaging	Het
Or6d14	A	T	6: 116,533,398 (GRCm39)	E4V	possibly damaging	Het
Pcdhga6	T	A	18: 37,841,619 (GRCm39)	N446K	probably damaging	Het
Phlpp1	A	T	1: 106,320,303 (GRCm39)	I1433F	probably benign	Het
Pla2g6	G	A	15: 79,192,933 (GRCm39)	R245C	probably damaging	Het
Rgl3	G	A	9: 21,888,123 (GRCm39)	Q464*	probably null	Het
Ryr2	T	C	13: 11,720,530 (GRCm39)	D2706G	probably benign	Het
Sbf2	G	A	7: 109,974,984 (GRCm39)	Q718*	probably null	Het
Sdad1	T	C	5: 92,447,980 (GRCm39)	T252A	probably benign	Het
Sgk1	T	C	10: 21,870,009 (GRCm39)	L16P	probably damaging	Het
Slc44a4	T	C	17: 35,140,667 (GRCm39)	S287P	possibly damaging	Het
Syne1	T	C	10: 5,375,760 (GRCm39)	I111V	probably damaging	Het
Synm	A	C	7: 67,383,194 (GRCm39)	S1489R	probably damaging	Het
Tfb2m	A	G	1: 179,365,269 (GRCm39)	F232L	probably benign	Het
Traf3	A	T	12: 111,227,095 (GRCm39)	K328*	probably null	Het
Trim38	C	A	13: 23,972,365 (GRCm39)	Q229K	probably benign	Het
Vcan	A	G	13: 89,837,951 (GRCm39)	I2531T	probably damaging	Het
Virma	T	A	4: 11,546,211 (GRCm39)	I1683N	possibly damaging	Het
Vmn1r18	A	T	6: 57,367,551 (GRCm39)	M1K	probably null	Het
Vmn2r87	T	C	10: 130,314,761 (GRCm39)	N275S	probably damaging	Het
Vps13a	T	A	19: 16,701,066 (GRCm39)	H701L	probably benign	Het
Vrk3	T	A	7: 44,420,348 (GRCm39)		probably null	Het
Zfp993	T	A	4: 146,742,098 (GRCm39)	S141T	possibly damaging	Het

Other mutations in Slc38a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00763:Slc38a8	APN	8	120,220,958 (GRCm39)	missense	probably benign	0.01
IGL02167:Slc38a8	APN	8	120,214,099 (GRCm39)	missense	probably benign	0.03
IGL02565:Slc38a8	APN	8	120,212,300 (GRCm39)	missense	probably damaging	1.00
IGL02899:Slc38a8	APN	8	120,212,282 (GRCm39)	missense	probably benign	0.34
IGL03177:Slc38a8	APN	8	120,212,251 (GRCm39)	missense	probably damaging	1.00
IGL03282:Slc38a8	APN	8	120,226,455 (GRCm39)	missense	probably damaging	0.99
R1109:Slc38a8	UTSW	8	120,209,394 (GRCm39)	missense	probably benign
R1116:Slc38a8	UTSW	8	120,222,872 (GRCm39)	missense	probably damaging	1.00
R2247:Slc38a8	UTSW	8	120,212,389 (GRCm39)	missense	probably benign	0.00
R4964:Slc38a8	UTSW	8	120,209,423 (GRCm39)	splice site	probably null
R5294:Slc38a8	UTSW	8	120,221,028 (GRCm39)	missense	probably damaging	1.00
R5303:Slc38a8	UTSW	8	120,212,780 (GRCm39)	missense	possibly damaging	0.66
R5430:Slc38a8	UTSW	8	120,220,959 (GRCm39)	missense	probably benign	0.16
R5643:Slc38a8	UTSW	8	120,207,488 (GRCm39)	makesense	probably null
R6016:Slc38a8	UTSW	8	120,221,044 (GRCm39)	splice site	probably null
R7346:Slc38a8	UTSW	8	120,226,554 (GRCm39)	nonsense	probably null
R7502:Slc38a8	UTSW	8	120,227,820 (GRCm39)	missense	possibly damaging	0.60
R8081:Slc38a8	UTSW	8	120,212,269 (GRCm39)	missense	possibly damaging	0.54
R9083:Slc38a8	UTSW	8	120,212,780 (GRCm39)	missense	probably benign	0.11
R9109:Slc38a8	UTSW	8	120,212,851 (GRCm39)	missense	possibly damaging	0.54
R9298:Slc38a8	UTSW	8	120,212,851 (GRCm39)	missense	possibly damaging	0.54
R9472:Slc38a8	UTSW	8	120,227,888 (GRCm39)	missense	probably damaging	0.99
R9595:Slc38a8	UTSW	8	120,209,403 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTGGCTCAGTAACCCAGG -3'
(R):5'- TAGCTGGGTATAGCACAAACCC -3'

Sequencing Primer
(F):5'- GATGCTGAGACCCTTTAAGCC -3'
(R):5'- ACCCTGTGGTGTGCAGTG -3'

Posted On

2019-10-07