Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02190:Slc16a5'

283841

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc16a5

Ensembl Gene

ENSMUSG00000045775

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 5

Synonyms

MCT5, A130015N09Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02190

Quality Score

Status

Chromosome

Chromosomal Location

115462474-115474398 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 115462609 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000117727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092445] [ENSMUST00000106532] [ENSMUST00000153466]

Predicted Effect

probably null
Transcript: ENSMUST00000092445
AA Change: M1V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000090102
Gene: ENSMUSG00000045775
AA Change: M1V

Domain	Start	End	E-Value	Type
Pfam:MFS_1	15	303	5.9e-31	PFAM
Pfam:MFS_1	302	459	6.2e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106532
AA Change: M1V

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102142
Gene: ENSMUSG00000045775
AA Change: M1V

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	78	100	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133636

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140567

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146500

Predicted Effect

probably null
Transcript: ENSMUST00000153466
AA Change: M1V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117727
Gene: ENSMUSG00000045775
AA Change: M1V

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC
transmembrane domain	54	73	N/A	INTRINSIC
transmembrane domain	85	107	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	C	5: 129,140,724		probably benign	Het
AI314180	A	T	4: 58,800,190	S1838R	probably benign	Het
Ano1	T	C	7: 144,618,883	E521G	probably benign	Het
As3mt	A	T	19: 46,719,945	I224F	probably benign	Het
Atp5j2	C	A	5: 145,183,832		probably benign	Het
Cacna1h	A	G	17: 25,433,026	V48A	probably benign	Het
Ctu2	T	C	8: 122,481,658		probably benign	Het
Efcab5	T	C	11: 77,121,314	R841G	probably benign	Het
Erbb3	A	T	10: 128,571,010		probably null	Het
Fkbp15	G	T	4: 62,304,822	P947T	possibly damaging	Het
Gabpb1	A	G	2: 126,653,549		probably benign	Het
Gcn1l1	G	T	5: 115,614,124	V2100L	probably damaging	Het
Gemin5	A	C	11: 58,134,842	V977G	probably damaging	Het
Gpr107	T	A	2: 31,178,320	Y265N	probably damaging	Het
Gpx8	T	C	13: 113,043,309		probably benign	Het
H2-Eb2	A	T	17: 34,334,374	N178I	probably damaging	Het
Ift172	C	T	5: 31,254,458	V1587I	possibly damaging	Het
Lrrc45	A	G	11: 120,718,508	T398A	probably damaging	Het
Mmrn1	G	T	6: 60,987,193	V1059L	probably benign	Het
Morn5	A	G	2: 36,079,515	D147G	probably benign	Het
Mphosph9	T	C	5: 124,265,425	R847G	possibly damaging	Het
Nutm1	C	T	2: 112,249,406	W721*	probably null	Het
Olfr1136	A	G	2: 87,693,063	M273T	probably benign	Het
Olfr347	T	C	2: 36,734,579	L86P	probably benign	Het
Olfr531	T	C	7: 140,400,120		probably benign	Het
Rgl3	A	G	9: 21,981,708	F227L	probably benign	Het
Ropn1l	G	T	15: 31,443,341	L182I	probably benign	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
Scgb1a1	A	T	19: 9,087,867	L12Q	probably damaging	Het
Scp2	A	G	4: 108,087,128	S237P	probably benign	Het
Skint5	T	C	4: 113,940,765	Q207R	possibly damaging	Het
Tox2	G	A	2: 163,323,006	R522H	possibly damaging	Het
Trip12	A	T	1: 84,766,070	N505K	probably damaging	Het
Tuba1c	G	A	15: 99,037,989	D444N	unknown	Het
Vmn1r174	A	G	7: 23,754,827	E306G	unknown	Het
Vmn2r111	A	T	17: 22,570,773	F417L	probably benign	Het
Vmn2r15	A	T	5: 109,293,374	M206K	probably damaging	Het
Vmn2r95	G	T	17: 18,451,776	A592S	probably benign	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	Het

Other mutations in Slc16a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01832:Slc16a5	APN	11	115465001	missense	probably benign
IGL02852:Slc16a5	APN	11	115469579	missense	probably benign	0.03
IGL02942:Slc16a5	APN	11	115469350	missense	possibly damaging	0.50
R0090:Slc16a5	UTSW	11	115464925	missense	probably damaging	1.00
R1928:Slc16a5	UTSW	11	115470016	missense	probably damaging	0.98
R1930:Slc16a5	UTSW	11	115469368	missense	probably damaging	0.99
R1931:Slc16a5	UTSW	11	115469368	missense	probably damaging	0.99
R5255:Slc16a5	UTSW	11	115462675	missense	probably benign	0.13
R5548:Slc16a5	UTSW	11	115469804	missense	probably benign	0.32
R5592:Slc16a5	UTSW	11	115472782	missense	probably benign	0.05
R5770:Slc16a5	UTSW	11	115472778	missense	possibly damaging	0.70
R8381:Slc16a5	UTSW	11	115469890	missense	probably benign
Z1176:Slc16a5	UTSW	11	115469372	missense	probably damaging	0.99

Posted On

2015-04-16