Mutagenetix > Incidental Mutation

Incidental Mutation 'R9301:Slc16a7'

704956

Institutional Source

Beutler Lab

Gene Symbol

Slc16a7

Ensembl Gene

ENSMUSG00000020102

Gene Name

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

Synonyms

4921534N07Rik, MCT2

Accession Numbers

Is this an essential gene?

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

Stock #

R9301 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125219270-125389465 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125231011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 253 (N253S)

Ref Sequence

ENSEMBL: ENSMUSP00000065433 (fasta)

Gene Model

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

AlphaFold

O70451

Predicted Effect

probably damaging
Transcript: ENSMUST00000063318
AA Change: N253S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102
AA Change: N253S

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 damaging
Transcript: ENSMUST00000105257
AA Change: N253S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102
AA Change: N253S

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 damaging
Transcript: ENSMUST00000210780
AA Change: N253S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211781
AA Change: N253S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.4%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,087,479	N514K	probably benign	Het
Adssl1	A	T	12: 112,636,448	R358W	probably damaging	Het
Anxa8	T	A	14: 34,097,975	I307N	probably damaging	Het
Atad5	T	A	11: 80,096,019	I644N	probably damaging	Het
Atp5a1	G	T	18: 77,781,238	L437F	probably damaging	Het
Babam1	A	G	8: 71,403,040	K259R	possibly damaging	Het
BC048562	T	G	9: 108,445,855	F130V	probably damaging	Het
Camsap2	T	A	1: 136,274,902		probably null	Het
Ccne2	A	G	4: 11,192,881	I27M	probably benign	Het
Cd302	A	G	2: 60,252,449	V177A	possibly damaging	Het
Cfap46	T	C	7: 139,642,545	K1172R		Het
Cic	T	C	7: 25,291,692	W2141R	probably damaging	Het
Cpeb3	A	G	19: 37,174,073	V301A	possibly damaging	Het
Cpsf3	A	G	12: 21,300,111	K277R	possibly damaging	Het
Cstl1	A	G	2: 148,751,006	H27R	possibly damaging	Het
Dapk1	T	A	13: 60,718,311	I188K	possibly damaging	Het
Dock6	T	C	9: 21,817,815	T1301A	probably benign	Het
Eml5	A	T	12: 98,882,033	C133*	probably null	Het
Ermap	T	A	4: 119,185,547	I260F	probably damaging	Het
Fbxw22	T	G	9: 109,386,585	E198D	possibly damaging	Het
Flt4	T	C	11: 49,625,414	Y115H	possibly damaging	Het
Fmo9	A	C	1: 166,667,225	I369S	probably damaging	Het
Frmd4a	T	A	2: 4,153,093	S6T	probably benign	Het
Gm20075	T	A	13: 96,081,113	K73*	probably null	Het
Golga5	A	T	12: 102,476,798	I330L	probably benign	Het
Helq	C	A	5: 100,779,292	V643F	probably damaging	Het
Ino80d	A	T	1: 63,065,810	L369H	probably damaging	Het
Kank1	A	T	19: 25,411,434	M824L	probably benign	Het
Lilr4b	T	C	10: 51,480,705		probably benign	Het
Ltbp4	T	A	7: 27,322,153	D1003V	probably damaging	Het
Mapk8ip2	T	C	15: 89,457,683	S366P	probably damaging	Het
Mdga1	T	C	17: 29,850,538	H178R	probably benign	Het
Mlh3	A	G	12: 85,245,839	V1266A	possibly damaging	Het
Nrp1	A	G	8: 128,363,378	E78G	probably damaging	Het
Olfr1080	A	G	2: 86,553,474	S217P	possibly damaging	Het
Olfr1155	A	G	2: 87,942,953	V225A	probably benign	Het
Olfr1427	A	T	19: 12,099,462	M59K	probably damaging	Het
Olfr365	A	T	2: 37,201,243	M1L	probably benign	Het
Ovch2	A	G	7: 107,796,608	S68P	probably damaging	Het
Pappa2	T	A	1: 158,845,044	I1110F	probably damaging	Het
Pcyox1	A	C	6: 86,392,259	L195R	possibly damaging	Het
Pde11a	A	G	2: 76,017,873	L870P	probably damaging	Het
Pgpep1	G	A	8: 70,650,768	T152M	probably damaging	Het
Pik3c2a	A	T	7: 116,346,178	D1464E	probably damaging	Het
Plcb1	A	G	2: 135,325,690	K468R	possibly damaging	Het
Postn	C	T	3: 54,385,238	T742I	probably benign	Het
Ppm1j	T	A	3: 104,783,741	Y274N	probably damaging	Het
Ppp2cb	T	C	8: 33,600,010	C32R	possibly damaging	Het
Prmt9	T	A	8: 77,555,745	Y90*	probably null	Het
Ptk2	T	C	15: 73,274,497	Y441C	probably damaging	Het
Rabggta	T	A	14: 55,719,626	I266L	probably benign	Het
Rft1	C	T	14: 30,676,855	R261W	probably damaging	Het
Rsrc1	C	T	3: 67,290,347	A195V	probably damaging	Het
Rtkn2	T	G	10: 68,035,847	L355R	possibly damaging	Het
Runx1t1	A	T	4: 13,875,477	D427V	possibly damaging	Het
Slc15a4	T	G	5: 127,596,748	H534P	probably benign	Het
Slc29a1	A	G	17: 45,586,137	S408P	probably damaging	Het
Slc52a2	G	A	15: 76,540,206	A215T	probably damaging	Het
Smc1b	T	A	15: 85,127,794	I126L	probably damaging	Het
Sycp2	A	T	2: 178,381,857	N455K	probably benign	Het
Tbck	T	C	3: 132,837,977	V863A	probably benign	Het
Tfap2c	A	G	2: 172,553,427	M263V	probably benign	Het
Tmem45a	A	G	16: 56,806,771	V245A	probably damaging	Het
Top2a	C	T	11: 99,006,964	G759D	probably damaging	Het
Traf5	A	G	1: 191,997,528	S218P		Het
Tsfm	T	C	10: 127,030,633	R20G	probably benign	Het
Ugt2a2	G	T	5: 87,460,523	Q486K	probably damaging	Het
Usp34	T	A	11: 23,472,951	D3108E		Het
Wnt11	A	G	7: 98,846,589	Y100C	probably damaging	Het
Zbtb49	A	G	5: 38,213,587	C317R	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
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

Predicted Primers

PCR Primer
(F):5'- AAGCTGAGTAGGTAGTTGCTAG -3'
(R):5'- ATGAGACCTGTTGGGCCAAG -3'

Sequencing Primer
(F):5'- GCATATGCCAGTAAAGATGATTGC -3'
(R):5'- TGTTGGGCCAAGTCCAAATAC -3'

Posted On

2022-03-25