Mutagenetix > Incidental Mutation

Incidental Mutation 'R9083:Slc38a8'

690402

Institutional Source

Beutler Lab

Gene Symbol

Slc38a8

Ensembl Gene

ENSMUSG00000034224

Gene Name

solute carrier family 38, member 8

Synonyms

LOC234788

MMRRC Submission

068902-MU

Accession Numbers

Essential gene?

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

Stock #

R9083 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120206341-120228437 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 120212780 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 294 (V294I)

Ref Sequence

ENSEMBL: ENSMUSP00000038438 (fasta)

Gene Model

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

AlphaFold

Q5HZH7

Predicted Effect

probably benign
Transcript: ENSMUST00000036748
AA Change: V294I

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000038438
Gene: ENSMUSG00000034224
AA Change: V294I

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: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,534,524 (GRCm39)	S844R	possibly damaging	Het
Adig	C	A	2: 158,347,709 (GRCm39)		probably benign	Het
Aspm	A	G	1: 139,421,436 (GRCm39)	N3106S	possibly damaging	Het
Bcas1	A	T	2: 170,190,081 (GRCm39)		probably benign	Het
Bco1	A	C	8: 117,844,143 (GRCm39)	I286L	probably benign	Het
Bnc1	C	T	7: 81,624,646 (GRCm39)	V194I	probably benign	Het
Bptf	G	A	11: 106,959,176 (GRCm39)	R1912W	probably damaging	Het
Cacna1a	A	G	8: 85,344,511 (GRCm39)	I1858V	probably benign	Het
Chdh	T	C	14: 29,753,703 (GRCm39)	F204S	probably damaging	Het
Cic	A	G	7: 24,985,470 (GRCm39)	T1212A	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cts8	A	G	13: 61,397,036 (GRCm39)	Y295H	probably damaging	Het
Cyp1a2	T	C	9: 57,587,572 (GRCm39)	T333A	probably benign	Het
Cyp2a12	T	C	7: 26,735,944 (GRCm39)	F451S	probably damaging	Het
Dmxl2	T	C	9: 54,316,548 (GRCm39)	I1613V	probably benign	Het
Eme1	A	G	11: 94,540,958 (GRCm39)	L260S	probably damaging	Het
Ermp1	A	C	19: 29,623,415 (GRCm39)	S192A	probably benign	Het
Fam186a	T	C	15: 99,843,079 (GRCm39)	Q1055R	probably benign	Het
Fat1	C	T	8: 45,466,127 (GRCm39)	T1462M	possibly damaging	Het
Fat1	A	G	8: 45,491,336 (GRCm39)	N3822S	probably benign	Het
Gm973	A	G	1: 59,675,317 (GRCm39)	T225A		Het
Gnl2	A	G	4: 124,941,357 (GRCm39)	Y367C	probably damaging	Het
Golga5	T	A	12: 102,458,476 (GRCm39)	S640T	probably benign	Het
Inafm1	A	G	7: 16,007,196 (GRCm39)	V7A	unknown	Het
Irx2	A	G	13: 72,777,392 (GRCm39)	D71G	possibly damaging	Het
Kash5	G	A	7: 44,854,058 (GRCm39)	R24C	unknown	Het
Kif13a	T	C	13: 46,966,263 (GRCm39)	Y448C	probably damaging	Het
Lcor	G	T	19: 41,574,839 (GRCm39)	R1198L	probably damaging	Het
Ldlrad4	A	T	18: 68,197,746 (GRCm39)	N10I	probably benign	Het
Lix1	T	C	17: 17,677,392 (GRCm39)	Y196H	possibly damaging	Het
Lrrc37	A	C	11: 103,509,830 (GRCm39)	S713A	unknown	Het
Mon1a	A	G	9: 107,779,835 (GRCm39)	Y468C	probably damaging	Het
Mroh4	A	T	15: 74,498,140 (GRCm39)	I177N	probably damaging	Het
Mterf4	A	T	1: 93,229,515 (GRCm39)	Y236*	probably null	Het
Myo1f	T	A	17: 33,813,036 (GRCm39)	I614N	probably damaging	Het
Nbas	T	A	12: 13,385,856 (GRCm39)	S707T	possibly damaging	Het
Ncl	A	T	1: 86,279,183 (GRCm39)	S577T	possibly damaging	Het
Or10al4	T	A	17: 38,037,060 (GRCm39)	N48K	probably damaging	Het
Or52d13	T	C	7: 103,109,896 (GRCm39)	D173G		Het
Or6c2b	A	T	10: 128,947,892 (GRCm39)	M134K	probably damaging	Het
Or6c69c	A	T	10: 129,910,941 (GRCm39)	M221L	probably benign	Het
Or6c69c	G	C	10: 129,910,969 (GRCm39)	S230T	probably benign	Het
Or7g17	A	T	9: 18,768,550 (GRCm39)	I201F	probably benign	Het
Or8g17	A	G	9: 38,930,016 (GRCm39)	S274P	probably damaging	Het
Padi1	C	A	4: 140,559,602 (GRCm39)		probably null	Het
Patj	G	A	4: 98,401,871 (GRCm39)	V1004M	probably benign	Het
Pcdhb9	A	T	18: 37,535,770 (GRCm39)	D588V	probably damaging	Het
Pdzph1	C	A	17: 59,261,395 (GRCm39)	R879L	possibly damaging	Het
Pla2g2c	G	A	4: 138,463,378 (GRCm39)	V91I	probably benign	Het
Plin4	T	C	17: 56,416,345 (GRCm39)	D53G	possibly damaging	Het
Poll	T	C	19: 45,546,317 (GRCm39)	Q241R	probably benign	Het
Recql5	A	T	11: 115,785,475 (GRCm39)	L674M	possibly damaging	Het
Shroom3	G	A	5: 93,098,533 (GRCm39)	G1338S	probably damaging	Het
Slc4a1ap	T	C	5: 31,684,457 (GRCm39)	V31A	probably benign	Het
Tln2	G	A	9: 67,269,927 (GRCm39)	P489S	probably damaging	Het
Trappc9	G	A	15: 72,608,626 (GRCm39)	R928*	probably null	Het
Uba7	C	A	9: 107,855,166 (GRCm39)	T343N	probably benign	Het
Vasn	C	T	16: 4,467,871 (GRCm39)	T606I	probably benign	Het
Xrn2	T	A	2: 146,880,199 (GRCm39)	D507E	probably damaging	Het
Zfp592	T	A	7: 80,674,644 (GRCm39)	M536K	possibly damaging	Het
Zfp932	A	T	5: 110,157,100 (GRCm39)	H266L	probably 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
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
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'- CCATTGAAGGTGATCCAGCC -3'
(R):5'- AGCAGCCAACTAGTCTGTAGG -3'

Sequencing Primer
(F):5'- AAGGTGATCCAGCCCCACG -3'
(R):5'- TTAGGATGCAGAATAAGGAACCCTTC -3'

Posted On

2021-12-30