Mutagenetix > Incidental Mutation

Incidental Mutation 'R5430:Slc38a8'

427133

Institutional Source

Beutler Lab

Gene Symbol

Slc38a8

Ensembl Gene

ENSMUSG00000034224

Gene Name

solute carrier family 38, member 8

Synonyms

LOC234788

MMRRC Submission

042996-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R5430 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120206341-120228437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120220959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 200 (I200T)

Ref Sequence

ENSEMBL: ENSMUSP00000119987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036748] [ENSMUST00000133821] [ENSMUST00000138061]

AlphaFold

Q5HZH7

Predicted Effect

probably benign
Transcript: ENSMUST00000036748
AA Change: I200T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000038438
Gene: ENSMUSG00000034224
AA Change: I200T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125594

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132838

SMART Domains

Protein: ENSMUSP00000121251
Gene: ENSMUSG00000034224

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	39	289	1.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133821

SMART Domains

Protein: ENSMUSP00000123094
Gene: ENSMUSG00000034224

Domain	Start	End	E-Value	Type
Pfam:Trp_Tyr_perm	22	163	2.1e-10	PFAM
Pfam:Aa_trans	22	165	3.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138061
AA Change: I200T

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119987
Gene: ENSMUSG00000034224
AA Change: I200T

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	22	202	2.2e-25	PFAM
Pfam:Trp_Tyr_perm	23	196	1.2e-9	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

96% (54/56)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	A	9: 39,963,587 (GRCm39)		noncoding transcript	Het
Acot11	C	T	4: 106,617,327 (GRCm39)	G240R	probably damaging	Het
Ankrd34a	G	A	3: 96,504,837 (GRCm39)	G14R	probably damaging	Het
Arhgef1	C	A	7: 24,611,732 (GRCm39)		probably null	Het
Brsk1	T	C	7: 4,713,435 (GRCm39)	F702L	probably benign	Het
Chrna3	C	T	9: 54,920,192 (GRCm39)	V470I	probably damaging	Het
Cpm	A	G	10: 117,511,986 (GRCm39)	Q310R	possibly damaging	Het
Dennd5a	T	C	7: 109,533,447 (GRCm39)	T108A	probably damaging	Het
Dvl3	C	T	16: 20,342,481 (GRCm39)	R145W	probably damaging	Het
E4f1	G	A	17: 24,663,944 (GRCm39)	A532V	probably damaging	Het
Eid1	A	G	2: 125,515,550 (GRCm39)	T147A	probably damaging	Het
Eipr1	A	T	12: 28,913,015 (GRCm39)	N239Y	probably damaging	Het
Eml5	T	C	12: 98,760,417 (GRCm39)	I1777M	probably damaging	Het
Gm11787	A	T	4: 3,512,786 (GRCm39)		noncoding transcript	Het
Gnat2	T	C	3: 108,005,716 (GRCm39)	L227P	probably damaging	Het
H2-T15	C	T	17: 36,366,967 (GRCm39)	V359I	probably benign	Het
Jag1	T	C	2: 136,943,626 (GRCm39)	H190R	possibly damaging	Het
Kdm7a	A	G	6: 39,126,276 (GRCm39)	W570R	possibly damaging	Het
Lmbrd1	A	G	1: 24,732,061 (GRCm39)	T93A	possibly damaging	Het
Lrch4	T	C	5: 137,636,795 (GRCm39)	S433P	possibly damaging	Het
Lrp1	G	A	10: 127,376,930 (GRCm39)	R4216W	probably damaging	Het
Magohb	A	G	6: 131,266,381 (GRCm39)	Y42H	probably damaging	Het
Melk	A	G	4: 44,309,033 (GRCm39)	H130R	probably damaging	Het
Mettl24	G	T	10: 40,613,780 (GRCm39)	R173L	probably benign	Het
Mup4	A	T	4: 59,960,044 (GRCm39)	H73Q	probably damaging	Het
Mylk2	A	T	2: 152,759,468 (GRCm39)	E386V	probably damaging	Het
Nppb	C	T	4: 148,070,838 (GRCm39)	P71L	probably benign	Het
Oca2	T	C	7: 55,945,208 (GRCm39)	V272A	probably damaging	Het
Or14j6	T	A	17: 38,215,304 (GRCm39)	I289N	probably damaging	Het
Or2t6	C	T	14: 14,175,692 (GRCm38)	R130H	probably benign	Het
Or4c10	A	T	2: 89,760,257 (GRCm39)	I35F	probably benign	Het
Osbpl6	T	C	2: 76,416,482 (GRCm39)	S628P	probably damaging	Het
Papola	T	C	12: 105,775,843 (GRCm39)	V253A	probably damaging	Het
Pex12	T	C	11: 83,188,572 (GRCm39)	D141G	probably damaging	Het
Ppm1k	A	T	6: 57,501,871 (GRCm39)	C97*	probably null	Het
Ptprh	T	A	7: 4,554,046 (GRCm39)	E807V	probably damaging	Het
Sema3a	A	T	5: 13,615,730 (GRCm39)	T385S	probably damaging	Het
Sfn	T	C	4: 133,328,938 (GRCm39)	Y48C	probably damaging	Het
Smarcal1	T	C	1: 72,665,776 (GRCm39)	V758A	probably damaging	Het
Stmn4	A	G	14: 66,595,463 (GRCm39)	M190V	possibly damaging	Het
Syt3	T	G	7: 44,040,337 (GRCm39)	L190R	possibly damaging	Het
Tbl1xr1	T	A	3: 22,246,246 (GRCm39)	D255E	probably benign	Het
Ttbk2	C	T	2: 120,608,046 (GRCm39)	R191H	probably damaging	Het
Vmn1r238	G	T	18: 3,122,521 (GRCm39)	L298M	possibly damaging	Het
Vmn2r45	A	C	7: 8,486,333 (GRCm39)	Y318*	probably null	Het
Vsig8	T	C	1: 172,387,196 (GRCm39)	I24T	probably damaging	Het
Wdr3	G	A	3: 100,064,643 (GRCm39)	T166I	possibly damaging	Het
Zfp354c	A	G	11: 50,706,022 (GRCm39)	I351T	probably benign	Het
Zfp52	A	G	17: 21,775,329 (GRCm39)	T8A	probably benign	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
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
R7425:Slc38a8	UTSW	8	120,212,327 (GRCm39)	missense	possibly damaging	0.89
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'- AGCCCACTGTTCTCTAAGCC -3'
(R):5'- TCAGGAACAGAGCATCCTGG -3'

Sequencing Primer
(F):5'- TGTCAGCTTCCACATAGACAGTGG -3'
(R):5'- ATCCTGGCTCCATCCTAGGG -3'

Posted On

2016-09-01