Mutagenetix > Incidental Mutation

Incidental Mutation 'R4513:Slc16a7'

334523

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

041759-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4513 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125219270-125389465 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to G at 125233439 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147968 (fasta)

Gene Model

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

AlphaFold

O70451

Predicted Effect

probably null
Transcript: ENSMUST00000063318

SMART Domains

Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102

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

probably null
Transcript: ENSMUST00000105257

SMART Domains

Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102

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

probably null
Transcript: ENSMUST00000105257

SMART Domains

Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102

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

probably null
Transcript: ENSMUST00000210780

Predicted Effect

probably null
Transcript: ENSMUST00000211781

Predicted Effect

probably null
Transcript: ENSMUST00000211781

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

100% (56/56)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	G	T	8: 45,968,138	T116K	probably damaging	Het
Adgre1	A	G	17: 57,410,947	I320V	probably benign	Het
Akap6	T	C	12: 52,796,004	V45A	probably benign	Het
Ankrd28	A	T	14: 31,743,285	S312T	probably damaging	Het
Cenpn	A	G	8: 116,933,396	Y68C	probably damaging	Het
Cntn3	A	T	6: 102,168,982	I966N	probably benign	Het
D630003M21Rik	T	C	2: 158,204,802	T752A	probably benign	Het
Dmxl2	A	C	9: 54,419,884	S952R	probably null	Het
Dopey1	G	A	9: 86,520,559	E1271K	probably benign	Het
Fgfr3	A	G	5: 33,723,116		probably benign	Het
Gm10110	A	G	14: 89,897,715		noncoding transcript	Het
Gm13089	T	C	4: 143,698,148	M242V	probably benign	Het
Got1l1	C	T	8: 27,198,485	M279I	probably benign	Het
Guf1	T	C	5: 69,561,662	V230A	probably benign	Het
Hsd17b14	C	T	7: 45,562,915	L124F	probably benign	Het
Id3	G	T	4: 136,144,358		probably benign	Het
Itga8	T	C	2: 12,182,736	S711G	probably benign	Het
Lgr4	T	C	2: 110,012,016	M782T	possibly damaging	Het
Lsm12	T	C	11: 102,167,083		probably null	Het
Map1b	T	A	13: 99,444,233	D117V	probably damaging	Het
Map3k11	A	G	19: 5,702,210	T807A	probably damaging	Het
Mapk14	T	C	17: 28,724,824	F129S	probably damaging	Het
Mapkbp1	T	A	2: 120,023,693	I1257N	possibly damaging	Het
Mcm3	A	G	1: 20,810,232	Y459H	probably damaging	Het
Mkln1	T	C	6: 31,433,158		probably benign	Het
Msh5	A	T	17: 35,030,688	I627N	possibly damaging	Het
Nfkbiz	T	C	16: 55,816,841	H488R	probably benign	Het
Nrg1	G	T	8: 32,477,077		probably benign	Het
Olfr1477	A	T	19: 13,502,622	Y93F	probably benign	Het
Olfr348	A	G	2: 36,786,770	M82V	probably benign	Het
Olfr574	T	C	7: 102,948,738	L81P	probably damaging	Het
Olfr635	T	C	7: 103,979,441	V89A	probably benign	Het
Plec	C	T	15: 76,186,218	V931M	probably damaging	Het
Plekhg4	T	A	8: 105,380,402	C910S	probably damaging	Het
Ppp1r18	A	G	17: 35,868,304	E357G	probably damaging	Het
Rbm11	T	C	16: 75,596,587	F57S	probably damaging	Het
Sbp	G	A	17: 23,945,312	G183D	probably benign	Het
Skint5	A	G	4: 113,742,185	V719A	unknown	Het
Slc29a1	A	C	17: 45,589,066	Y232*	probably null	Het
Slc7a8	C	G	14: 54,735,790	G240A	possibly damaging	Het
Spanxn4	A	T	12: 62,688,100		noncoding transcript	Het
Spata31d1d	T	C	13: 59,728,554	Q389R	probably benign	Het
Srgap1	A	G	10: 121,870,326		probably null	Het
St6gal2	A	T	17: 55,483,017	N351Y	probably benign	Het
Tle2	A	G	10: 81,587,560	D491G	probably damaging	Het
Tmem33	T	C	5: 67,286,125	V215A	probably benign	Het
Trav6-3	A	G	14: 53,430,091	T7A	probably benign	Het
Ube2q2	C	A	9: 55,149,800	P56T	probably benign	Het
Unc79	T	C	12: 103,021,760	V208A	probably damaging	Het
Xkr7	T	C	2: 153,054,633	I469T	probably benign	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
R1173:Slc16a7	UTSW	10	125231372	missense	possibly damaging	0.82
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
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

PCR Primer
(F):5'- TGCAGGATGACACATGCAAAAC -3'
(R):5'- ACATGTGCACTGATCTCTTTTG -3'

Sequencing Primer
(F):5'- TGACACATGCAAAACTGTATGG -3'
(R):5'- GCACTGATCTCTTTTGATCACTGAAC -3'

Posted On

2015-08-18