Mutagenetix > Incidental Mutation

Incidental Mutation 'R1173:Slc16a7'

99729

Institutional Source

Beutler Lab

Gene Symbol

Slc16a7

Ensembl Gene

ENSMUSG00000020102

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 7

Synonyms

4921534N07Rik, MCT2

MMRRC Submission

039246-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1173 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125219270-125389465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125231372 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 133 (L133I)

Ref Sequence

ENSEMBL: ENSMUSP00000147968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063318] [ENSMUST00000105257] [ENSMUST00000210780] [ENSMUST00000211781]

AlphaFold

O70451

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063318
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102
AA Change: L133I

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:MFS_1	22	389	2e-37	PFAM
transmembrane domain	404	426	N/A	INTRINSIC
coiled coil region	436	463	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105257
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102
AA Change: L133I

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:MFS_1	22	389	6e-37	PFAM
transmembrane domain	404	426	N/A	INTRINSIC
coiled coil region	436	463	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210780
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211781
AA Change: L133I

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

Meta Mutation Damage Score

0.1246

Coding Region Coverage

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.9%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the monocarboxylate transporter family. Members in this family transport metabolites, such as lactate, pyruvate, and ketone bodies. The protein encoded by this gene catalyzes the proton-linked transport of monocarboxylates and has the highest affinity for pyruvate. This protein has been reported to be more highly expressed in prostate and colorectal cancer specimens when compared to control specimens. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
Accsl	A	T	2: 93,866,244		probably benign	Het
Adam30	G	A	3: 98,162,906	S685N	probably benign	Het
Adamts12	T	C	15: 11,071,757	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,751	F81S	probably damaging	Het
Ahnak2	A	T	12: 112,785,789	I186N	probably damaging	Het
Amz1	A	T	5: 140,751,936		probably null	Het
Anapc5	G	A	5: 122,788,418	A619V	possibly damaging	Het
Bbox1	T	C	2: 110,265,611	D336G	probably damaging	Het
Bivm	A	G	1: 44,126,782	T131A	probably benign	Het
Bpi	A	T	2: 158,267,740	I203F	probably benign	Het
Cd151	A	C	7: 141,470,656	T241P	probably damaging	Het
Cdh23	G	A	10: 60,312,392		probably benign	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Cul9	C	G	17: 46,522,175	A1326P	probably damaging	Het
Dclre1b	A	C	3: 103,803,876	S240A	probably benign	Het
Ddc	A	C	11: 11,846,634		probably null	Het
Dkk1	T	C	19: 30,547,250	R252G	probably damaging	Het
Dmrtc2	T	A	7: 24,874,313	M191K	possibly damaging	Het
Eml6	A	G	11: 29,749,824	S1771P	possibly damaging	Het
Emx1	T	C	6: 85,188,371		probably benign	Het
Fah	T	C	7: 84,601,136	M1V	probably null	Het
Fmo6	A	T	1: 162,926,141	M144K	probably damaging	Het
Frem1	A	G	4: 82,950,352	V1445A	probably benign	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gfm2	A	G	13: 97,165,200		probably null	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm19965	T	A	1: 116,820,820		probably benign	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Htra4	T	C	8: 25,030,619	D342G	possibly damaging	Het
Idh1	G	T	1: 65,161,160	N348K	probably benign	Het
Impdh2	T	C	9: 108,561,829	F99S	probably benign	Het
Kank4	T	C	4: 98,765,569	Y874C	probably damaging	Het
Kazn	A	T	4: 142,159,038		probably benign	Het
Kcnq3	T	A	15: 66,000,042	T593S	probably benign	Het
Lamc1	T	C	1: 153,247,231		probably benign	Het
Magi3	A	G	3: 104,061,630		probably null	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Meox2	T	C	12: 37,109,152	C108R	possibly damaging	Het
Nlrp9c	C	A	7: 26,380,435	C722F	probably damaging	Het
Olfr448	T	C	6: 42,897,351	V300A	probably benign	Het
Pde10a	C	T	17: 8,920,546		probably benign	Het
Ppfia4	A	G	1: 134,332,283		probably benign	Het
Psg18	T	C	7: 18,354,817	M1V	probably null	Het
Qtrt1	A	G	9: 21,412,486	T136A	probably benign	Het
Retsat	T	C	6: 72,603,651		probably benign	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Sfswap	G	A	5: 129,507,143		probably null	Het
Slc30a3	A	T	5: 31,086,810	M376K	probably damaging	Het
Srbd1	C	T	17: 86,098,512	C620Y	probably null	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Trip10	T	A	17: 57,253,363	L100Q	probably damaging	Het
Tyrp1	C	T	4: 80,844,868	Q331*	probably null	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vdr	A	T	15: 97,869,333	Y185N	probably benign	Het
Vmn1r123	C	T	7: 21,162,332	P50S	probably damaging	Het
Vmn1r158	T	A	7: 22,790,445	H113L	probably benign	Het
Vmn2r12	A	T	5: 109,092,854	I131N	probably benign	Het
Vmn2r72	T	A	7: 85,751,944	E89V	probably damaging	Het
Xrcc6	A	G	15: 82,031,163	D94G	probably damaging	Het
Zbtb32	T	A	7: 30,591,267	E201V	possibly damaging	Het
Zfp185	A	T	X: 72,999,323	E138D	possibly damaging	Het
Zmynd11	T	A	13: 9,689,549	H437L	probably damaging	Het

Other mutations in Slc16a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Slc16a7	APN	10	125230934	missense	probably benign	0.16
IGL02228:Slc16a7	APN	10	125230798	missense	probably damaging	1.00
IGL02500:Slc16a7	APN	10	125230933	missense	probably damaging	1.00
IGL03277:Slc16a7	APN	10	125230691	missense	probably benign	0.00
R0044:Slc16a7	UTSW	10	125228082	missense	probably benign	0.01
R0076:Slc16a7	UTSW	10	125228070	missense	probably benign	0.34
R0285:Slc16a7	UTSW	10	125294631	missense	probably benign	0.22
R0546:Slc16a7	UTSW	10	125230873	missense	probably benign	0.02
R0898:Slc16a7	UTSW	10	125233501	missense	possibly damaging	0.46
R1123:Slc16a7	UTSW	10	125231147	missense	probably benign	0.00
R1459:Slc16a7	UTSW	10	125230620	nonsense	probably null
R1554:Slc16a7	UTSW	10	125230922	missense	possibly damaging	0.70
R1838:Slc16a7	UTSW	10	125231198	missense	probably damaging	1.00
R3545:Slc16a7	UTSW	10	125294700	nonsense	probably null
R3546:Slc16a7	UTSW	10	125294700	nonsense	probably null
R3547:Slc16a7	UTSW	10	125294700	nonsense	probably null
R3934:Slc16a7	UTSW	10	125230843	missense	probably damaging	1.00
R3935:Slc16a7	UTSW	10	125230843	missense	probably damaging	1.00
R4499:Slc16a7	UTSW	10	125228187	missense	probably damaging	1.00
R4512:Slc16a7	UTSW	10	125233439	splice site	probably null
R4513:Slc16a7	UTSW	10	125233439	splice site	probably null
R4514:Slc16a7	UTSW	10	125233439	splice site	probably null
R5157:Slc16a7	UTSW	10	125233464	nonsense	probably null
R5247:Slc16a7	UTSW	10	125231314	missense	probably damaging	1.00
R5385:Slc16a7	UTSW	10	125294604	missense	possibly damaging	0.85
R6198:Slc16a7	UTSW	10	125228215	missense	probably benign
R6263:Slc16a7	UTSW	10	125294639	missense	probably benign	0.16
R6430:Slc16a7	UTSW	10	125231018	missense	probably damaging	0.97
R7450:Slc16a7	UTSW	10	125228051	missense	probably benign	0.00
R7680:Slc16a7	UTSW	10	125230936	missense	probably benign	0.19
R8125:Slc16a7	UTSW	10	125328333	critical splice donor site	probably null
R9133:Slc16a7	UTSW	10	125230667	missense	probably benign	0.00
R9301:Slc16a7	UTSW	10	125231011	missense	probably damaging	0.98

Predicted Primers

Posted On

2014-01-15