Mutagenetix > Incidental Mutation

Incidental Mutation 'R7680:Slc16a7'

592714

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

Accession Numbers

Is this an essential gene?

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

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125219270-125389465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125230936 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 278 (D278G)

Ref Sequence

ENSEMBL: ENSMUSP00000065433 (fasta)

Gene Model

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

AlphaFold

O70451

Predicted Effect

probably benign
Transcript: ENSMUST00000063318
AA Change: D278G

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102
AA Change: D278G

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 benign
Transcript: ENSMUST00000105257
AA Change: D278G

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102
AA Change: D278G

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 benign
Transcript: ENSMUST00000210780
AA Change: D278G

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000211781
AA Change: D278G

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,839,208	D104G	possibly damaging	Het
Ahi1	G	T	10: 21,007,768	C844F	possibly damaging	Het
AI464131	C	A	4: 41,497,978	D551Y	probably damaging	Het
B230118H07Rik	T	C	2: 101,610,556	E34G	probably damaging	Het
Bspry	T	C	4: 62,496,591	*474Q	probably null	Het
Car9	T	A	4: 43,507,250	D65E	probably damaging	Het
Ccdc110	T	A	8: 45,941,651	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,981,207	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,183,519	Q321R	probably damaging	Het
Cic	T	C	7: 25,292,431	V2255A	probably damaging	Het
Cmc2	A	T	8: 116,894,110	M44K	probably damaging	Het
Crls1	A	G	2: 132,862,338	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,487,550	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,552,819	I301N	probably damaging	Het
Dkk3	A	T	7: 112,119,363	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,685,800	N1906S	probably benign	Het
Gm13271	T	C	4: 88,755,130	V88A	probably benign	Het
Gphn	C	A	12: 78,412,374	L79I	probably benign	Het
Gpr15	A	T	16: 58,717,965	W254R	probably damaging	Het
H2-M2	T	C	17: 37,483,025	R103G	possibly damaging	Het
Hcn4	T	C	9: 58,860,671	S1172P	probably benign	Het
Htr1a	A	G	13: 105,445,031	S260G	probably benign	Het
Kif21b	G	T	1: 136,147,869		probably null	Het
Lamp1	T	C	8: 13,167,812	Y131H	probably benign	Het
Lrrc47	A	C	4: 154,016,101	N378T	probably benign	Het
Manea	A	T	4: 26,340,649	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,581,876	I888T	probably benign	Het
Mark3	T	C	12: 111,646,773	M557T	probably benign	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Myh6	C	A	14: 54,948,733	C1413F	possibly damaging	Het
Ncr1	T	A	7: 4,338,124	M38K	possibly damaging	Het
Nid2	A	G	14: 19,779,647	T669A	probably damaging	Het
Olfr49	T	A	14: 54,282,380	I172F	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plekha7	A	G	7: 116,164,276	Y364H	probably benign	Het
Plxnb1	T	A	9: 109,100,503	Y142*	probably null	Het
Ptprn	T	C	1: 75,247,893	I940V	probably benign	Het
Rnf213	T	C	11: 119,479,556	V4728A		Het
Samd9l	A	T	6: 3,372,569	L1564Q	probably damaging	Het
Samd9l	A	G	6: 3,376,469	I264T	probably damaging	Het
Slc35f2	T	A	9: 53,808,112	V214E	probably damaging	Het
Slc7a5	A	C	8: 121,907,267	S114A	probably damaging	Het
St6galnac3	A	G	3: 153,205,410	S305P	probably damaging	Het
Stat1	G	A	1: 52,144,209	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 150,929,938	C31W	probably damaging	Het
Tnk1	T	C	11: 69,856,745	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 85,059,241	D637E	probably benign	Het
Ttc17	C	T	2: 94,366,544	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,435,299	R183*	probably null	Het
Vmn2r78	A	G	7: 86,954,941	T776A	probably damaging	Het
Wrap73	A	G	4: 154,156,622	E444G	probably benign	Het
Zc3h13	C	T	14: 75,330,515	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547		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
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
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'- CGTAGACCACCAAAGCTGAG -3'
(R):5'- AGTAAGGTTGGCTCAAGACATG -3'

Sequencing Primer
(F):5'- CCACCAAAGCTGAGTAGGTAGTTG -3'
(R):5'- GGTTGGCTCAAGACATGATTCAACTC -3'

Posted On

2019-11-12