Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01116:Slc16a8'

52822

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc16a8

Ensembl Gene

ENSMUSG00000032988

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 8

Synonyms

Mct3, proton-coupled monocarboxylate transporter 3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL01116

Quality Score

Status

Chromosome

Chromosomal Location

79135214-79138961 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 79135432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 459 (S459R)

Ref Sequence

ENSEMBL: ENSMUSP00000040522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018295] [ENSMUST00000039752] [ENSMUST00000053926] [ENSMUST00000163571] [ENSMUST00000166155]

AlphaFold

O35308

Predicted Effect

probably benign
Transcript: ENSMUST00000018295

SMART Domains

Protein: ENSMUSP00000018295
Gene: ENSMUSG00000068206

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	352	1.69e-122	SMART
low complexity region	380	391	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000039752
AA Change: S459R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000040522
Gene: ENSMUSG00000032988
AA Change: S459R

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
Pfam:MFS_1	20	349	1.3e-28	PFAM
transmembrane domain	353	372	N/A	INTRINSIC
transmembrane domain	387	409	N/A	INTRINSIC
low complexity region	465	480	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000053926

SMART Domains

Protein: ENSMUSP00000061125
Gene: ENSMUSG00000116121

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	363	1.18e-103	SMART
GLECT	393	530	7.99e-3	SMART
Gal-bind_lectin	399	530	4.49e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113954

Predicted Effect

probably benign
Transcript: ENSMUST00000163571

SMART Domains

Protein: ENSMUSP00000128126
Gene: ENSMUSG00000068206

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	352	1.69e-122	SMART
low complexity region	380	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165609

Predicted Effect

probably benign
Transcript: ENSMUST00000166155

SMART Domains

Protein: ENSMUSP00000129468
Gene: ENSMUSG00000068206

Domain	Start	End	E-Value	Type
PDZ	31	105	2.12e-13	SMART
Arfaptin	117	352	1.69e-122	SMART
low complexity region	380	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169548

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170221

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171581

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230477

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SLC16A8 is a member of a family of proton-coupled monocarboxylate transporters that mediate lactate transport across cell membranes (Yoon et al., 1999 [PubMed 10493836]).[supplied by OMIM, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced visual function, putatively due to changes in the ionic composition of the outer retina. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,849,911 (GRCm39)	M951L	probably benign	Het
Als2	T	C	1: 59,225,163 (GRCm39)		probably benign	Het
Arhgap26	T	C	18: 39,244,856 (GRCm39)	V167A	probably damaging	Het
Bbs1	A	G	19: 4,952,867 (GRCm39)		probably benign	Het
Capn11	A	T	17: 45,949,806 (GRCm39)		probably benign	Het
Cenpl	G	T	1: 160,910,857 (GRCm39)	S268I	possibly damaging	Het
Coq8b	T	C	7: 26,939,282 (GRCm39)	V144A	possibly damaging	Het
Exo1	T	A	1: 175,728,963 (GRCm39)	C10S	possibly damaging	Het
Fam193b	A	T	13: 55,691,266 (GRCm39)	S203T	probably damaging	Het
Ggact	T	C	14: 123,129,167 (GRCm39)	N16S	probably damaging	Het
Gm3940	A	T	1: 52,129,882 (GRCm39)		probably benign	Het
Gm5458	G	T	14: 19,649,760 (GRCm39)	L155I	probably damaging	Het
Golm1	T	C	13: 59,797,470 (GRCm39)	K125R	probably damaging	Het
Gpatch4	A	G	3: 87,962,312 (GRCm39)	E175G	probably damaging	Het
Gria1	A	G	11: 57,127,801 (GRCm39)	N337D	probably damaging	Het
Gripap1	G	A	X: 7,678,705 (GRCm39)	G464D	probably benign	Het
Grk1	A	G	8: 13,455,404 (GRCm39)	D96G	possibly damaging	Het
Hsf1	T	C	15: 76,382,403 (GRCm39)	V258A	probably benign	Het
Ighv7-4	A	G	12: 114,186,653 (GRCm39)	S40P	probably damaging	Het
Igkv4-50	G	A	6: 69,677,921 (GRCm39)	S61L	probably benign	Het
Igkv4-62	C	T	6: 69,377,035 (GRCm39)	G38E	probably damaging	Het
Ints1	T	C	5: 139,757,437 (GRCm39)	D358G	probably damaging	Het
Madd	A	G	2: 90,984,888 (GRCm39)		probably benign	Het
Map3k6	A	G	4: 132,974,439 (GRCm39)	S580G	probably damaging	Het
Myef2	A	G	2: 124,940,402 (GRCm39)	M383T	probably damaging	Het
Myo3b	T	C	2: 70,119,730 (GRCm39)	L930P	probably damaging	Het
Ndufaf3	C	T	9: 108,444,068 (GRCm39)	R20Q	probably benign	Het
Npr2	T	C	4: 43,640,248 (GRCm39)	S328P	probably damaging	Het
Or1r1	A	T	11: 73,875,144 (GRCm39)	C97S	probably damaging	Het
Or4k15b	T	A	14: 50,272,507 (GRCm39)	M118L	probably benign	Het
Pdpr	T	C	8: 111,839,342 (GRCm39)	I155T	possibly damaging	Het
Phf11b	A	T	14: 59,560,631 (GRCm39)	I216K	probably benign	Het
Phkg1	T	C	5: 129,893,813 (GRCm39)		probably null	Het
Pik3r6	A	G	11: 68,422,276 (GRCm39)	Y225C	probably benign	Het
Plekhh2	A	T	17: 84,914,356 (GRCm39)	D1253V	possibly damaging	Het
Plppr3	T	C	10: 79,702,757 (GRCm39)	T155A	probably damaging	Het
Ppp6r2	T	C	15: 89,166,192 (GRCm39)	F732S	probably damaging	Het
Ryr1	A	G	7: 28,799,627 (GRCm39)		probably benign	Het
Slc25a12	A	T	2: 71,123,696 (GRCm39)		probably benign	Het
Slc38a2	T	C	15: 96,591,066 (GRCm39)		probably benign	Het
Slit1	C	A	19: 41,594,824 (GRCm39)	W1182L	possibly damaging	Het
Snx2	C	T	18: 53,327,495 (GRCm39)		probably benign	Het
Sos1	A	T	17: 80,752,929 (GRCm39)	V335D	probably damaging	Het
St18	A	G	1: 6,872,856 (GRCm39)	D197G	probably damaging	Het
Ston2	G	T	12: 91,615,522 (GRCm39)	N295K	possibly damaging	Het
Stpg3	A	G	2: 25,103,191 (GRCm39)		probably benign	Het
Tmem63a	A	G	1: 180,799,654 (GRCm39)	I675V	probably damaging	Het
Vmn2r16	T	A	5: 109,488,294 (GRCm39)	L389Q	probably damaging	Het
Vps13d	C	A	4: 144,699,320 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,681,934 (GRCm39)	D3012E	probably damaging	Het

Other mutations in Slc16a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0440:Slc16a8	UTSW	15	79,136,807 (GRCm39)	missense	probably damaging	1.00
R2239:Slc16a8	UTSW	15	79,137,147 (GRCm39)	missense	probably damaging	0.96
R3157:Slc16a8	UTSW	15	79,136,375 (GRCm39)	missense	probably damaging	1.00
R4967:Slc16a8	UTSW	15	79,137,084 (GRCm39)	missense	possibly damaging	0.85
R6200:Slc16a8	UTSW	15	79,137,137 (GRCm39)	missense	probably damaging	1.00
R6899:Slc16a8	UTSW	15	79,137,949 (GRCm39)	missense	possibly damaging	0.72
R7267:Slc16a8	UTSW	15	79,136,125 (GRCm39)	frame shift	probably null
R7351:Slc16a8	UTSW	15	79,137,841 (GRCm39)	missense	probably damaging	1.00
R8785:Slc16a8	UTSW	15	79,136,513 (GRCm39)	missense	possibly damaging	0.85
R9576:Slc16a8	UTSW	15	79,136,182 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21