Mutagenetix > Incidental Mutation

Incidental Mutation 'R0285:Slc16a7'

24685

Institutional Source

Beutler Lab

Gene Symbol

Slc16a7

Ensembl Gene

ENSMUSG00000020102

Gene Name

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

Synonyms

4921534N07Rik, 9030411M13Rik, D630004K10Rik, MCT2

MMRRC Submission

038506-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0285 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125055139-125225334 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125130500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 62 (I62L)

Ref Sequence

ENSEMBL: ENSMUSP00000147968 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063318] [ENSMUST00000105257] [ENSMUST00000210069] [ENSMUST00000210780] [ENSMUST00000211781]

AlphaFold

O70451

Predicted Effect

probably benign
Transcript: ENSMUST00000063318
AA Change: I62L

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000065433
Gene: ENSMUSG00000020102
AA Change: I62L

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: I62L

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100892
Gene: ENSMUSG00000020102
AA Change: I62L

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: ENSMUST00000210069

Predicted Effect

probably benign
Transcript: ENSMUST00000210780
AA Change: I62L

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000211781
AA Change: I62L

PolyPhen 2 Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 96.1%
20x: 92.9%

Validation Efficiency

99% (80/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	A	G	19: 4,038,193 (GRCm39)	E162G	probably benign	Het
Angptl1	T	C	1: 156,672,785 (GRCm39)	S204P	probably benign	Het
Atf6b	C	T	17: 34,869,370 (GRCm39)		probably benign	Het
Card11	G	A	5: 140,872,856 (GRCm39)	S619F	probably damaging	Het
Ccdc192	G	A	18: 57,666,937 (GRCm39)	G5S	probably damaging	Het
Ccl11	G	A	11: 81,953,084 (GRCm39)	V81I	probably damaging	Het
Cds1	T	C	5: 101,944,904 (GRCm39)	I126T	probably damaging	Het
Chd1	A	G	17: 17,594,942 (GRCm39)		probably benign	Het
Cndp1	C	A	18: 84,636,363 (GRCm39)	V384F	possibly damaging	Het
Cuta	A	G	17: 27,158,423 (GRCm39)		probably null	Het
Diaph3	G	A	14: 87,352,460 (GRCm39)	T47I	possibly damaging	Het
Dop1a	A	T	9: 86,394,692 (GRCm39)	S598C	probably damaging	Het
Dsp	A	G	13: 38,356,770 (GRCm39)	M217V	probably benign	Het
Entrep1	G	A	19: 23,956,749 (GRCm39)		probably benign	Het
Esyt1	T	A	10: 128,348,087 (GRCm39)	I898F	possibly damaging	Het
Fcsk	G	C	8: 111,620,349 (GRCm39)	H235Q	probably benign	Het
Fgd3	A	T	13: 49,417,424 (GRCm39)	W680R	possibly damaging	Het
Folh1	A	G	7: 86,391,373 (GRCm39)		probably benign	Het
Gadl1	C	A	9: 115,859,806 (GRCm39)		probably benign	Het
Garem1	A	G	18: 21,262,669 (GRCm39)	M715T	probably benign	Het
Gpd2	A	T	2: 57,228,967 (GRCm39)	D257V	probably benign	Het
Hdac7	A	G	15: 97,696,103 (GRCm39)		probably null	Het
Heatr5b	A	G	17: 79,115,882 (GRCm39)	M858T	probably benign	Het
Inpp4b	A	T	8: 82,761,145 (GRCm39)		probably benign	Het
Iqgap3	G	T	3: 88,004,297 (GRCm39)	C461F	probably benign	Het
Lamb1	C	A	12: 31,376,644 (GRCm39)	C559*	probably null	Het
Lratd2	T	C	15: 60,694,816 (GRCm39)	H310R	probably benign	Het
Lrrc31	T	C	3: 30,739,097 (GRCm39)	N308S	probably benign	Het
Ly75	T	C	2: 60,148,663 (GRCm39)	Y1222C	probably damaging	Het
Map3k10	C	A	7: 27,373,325 (GRCm39)	R42L	probably benign	Het
Meioc	A	G	11: 102,563,017 (GRCm39)	T72A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mmp11	T	C	10: 75,761,502 (GRCm39)	Y366C	probably damaging	Het
N4bp2	T	A	5: 65,963,902 (GRCm39)	D650E	probably benign	Het
Ncoa6	T	C	2: 155,257,621 (GRCm39)	M641V	probably damaging	Het
Ncoa6	TGC	TGCGC	2: 155,250,211 (GRCm39)		probably null	Het
Nol4l	G	A	2: 153,325,773 (GRCm39)		probably benign	Het
Notch1	T	G	2: 26,350,873 (GRCm39)	D2089A	possibly damaging	Het
Or10q3	A	G	19: 11,848,502 (GRCm39)	L26P	probably damaging	Het
Or13c7	G	A	4: 43,854,398 (GRCm39)	V30M	possibly damaging	Het
Or52h2	A	T	7: 103,838,531 (GRCm39)	Y294*	probably null	Het
Or5b24	A	T	19: 12,912,536 (GRCm39)	M145L	probably benign	Het
Or5l13	A	G	2: 87,780,475 (GRCm39)	I34T	probably damaging	Het
Or5p68	A	G	7: 107,945,706 (GRCm39)	S161P	probably benign	Het
Or8d23	T	A	9: 38,842,070 (GRCm39)	I201N	possibly damaging	Het
Otof	C	T	5: 30,536,877 (GRCm39)		probably null	Het
Paox	T	C	7: 139,709,053 (GRCm39)	F324L	probably damaging	Het
Pycr1	A	T	11: 120,531,142 (GRCm39)	I277N	probably benign	Het
R3hcc1l	A	T	19: 42,564,568 (GRCm39)	H627L	probably damaging	Het
Rab21	G	A	10: 115,126,768 (GRCm39)	S193L	probably benign	Het
Ralgds	T	G	2: 28,440,581 (GRCm39)		probably null	Het
Rbm42	A	G	7: 30,345,265 (GRCm39)	S169P	possibly damaging	Het
Rfpl4	A	G	7: 5,113,377 (GRCm39)	V262A	probably benign	Het
Rhobtb3	A	G	13: 76,025,628 (GRCm39)	I496T	possibly damaging	Het
Rnf31	G	A	14: 55,838,846 (GRCm39)	A901T	probably damaging	Het
Ryr2	T	C	13: 11,731,863 (GRCm39)	D2359G	probably damaging	Het
Sgo2b	A	C	8: 64,381,823 (GRCm39)	Y336*	probably null	Het
Slc22a21	A	T	11: 53,850,022 (GRCm39)		probably benign	Het
Slc25a21	A	G	12: 56,904,810 (GRCm39)		probably null	Het
Slc5a4b	T	C	10: 75,898,117 (GRCm39)	I532M	probably damaging	Het
Spata31f1a	G	A	4: 42,850,236 (GRCm39)	T640M	probably benign	Het
Srrm4	C	A	5: 116,605,848 (GRCm39)		probably benign	Het
Stxbp1	C	A	2: 32,713,554 (GRCm39)	E27D	probably benign	Het
Sult2a5	T	A	7: 13,362,685 (GRCm39)	Y131N	probably damaging	Het
Svopl	T	C	6: 37,961,457 (GRCm39)	Q492R	probably benign	Het
Tmem144	G	A	3: 79,746,580 (GRCm39)		probably benign	Het
Tmem87a	A	G	2: 120,224,905 (GRCm39)	S119P	probably benign	Het
Tmprss11c	A	G	5: 86,419,289 (GRCm39)	L90P	probably damaging	Het
Tmprss6	T	A	15: 78,337,068 (GRCm39)	D346V	probably damaging	Het
Ubr4	A	C	4: 139,168,112 (GRCm39)	S2820R	probably damaging	Het
Usp4	T	C	9: 108,255,763 (GRCm39)	V607A	probably benign	Het
Usp45	A	G	4: 21,798,603 (GRCm39)		probably null	Het
Vill	C	T	9: 118,899,895 (GRCm39)		probably benign	Het
Vmn1r13	C	A	6: 57,186,979 (GRCm39)	T46N	probably benign	Het
Vmn2r107	A	G	17: 20,565,873 (GRCm39)	T63A	probably benign	Het
Vmn2r82	T	A	10: 79,232,391 (GRCm39)	W797R	probably damaging	Het
Washc2	T	A	6: 116,198,800 (GRCm39)	D287E	probably damaging	Het
Xpc	G	A	6: 91,475,046 (GRCm39)	L660F	probably damaging	Het

Other mutations in Slc16a7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00857:Slc16a7	APN	10	125,066,803 (GRCm39)	missense	probably benign	0.16
IGL02228:Slc16a7	APN	10	125,066,667 (GRCm39)	missense	probably damaging	1.00
IGL02500:Slc16a7	APN	10	125,066,802 (GRCm39)	missense	probably damaging	1.00
IGL03277:Slc16a7	APN	10	125,066,560 (GRCm39)	missense	probably benign	0.00
R0044:Slc16a7	UTSW	10	125,063,951 (GRCm39)	missense	probably benign	0.01
R0076:Slc16a7	UTSW	10	125,063,939 (GRCm39)	missense	probably benign	0.34
R0546:Slc16a7	UTSW	10	125,066,742 (GRCm39)	missense	probably benign	0.02
R0898:Slc16a7	UTSW	10	125,069,370 (GRCm39)	missense	possibly damaging	0.46
R1123:Slc16a7	UTSW	10	125,067,016 (GRCm39)	missense	probably benign	0.00
R1173:Slc16a7	UTSW	10	125,067,241 (GRCm39)	missense	possibly damaging	0.82
R1459:Slc16a7	UTSW	10	125,066,489 (GRCm39)	nonsense	probably null
R1554:Slc16a7	UTSW	10	125,066,791 (GRCm39)	missense	possibly damaging	0.70
R1838:Slc16a7	UTSW	10	125,067,067 (GRCm39)	missense	probably damaging	1.00
R3545:Slc16a7	UTSW	10	125,130,569 (GRCm39)	nonsense	probably null
R3546:Slc16a7	UTSW	10	125,130,569 (GRCm39)	nonsense	probably null
R3547:Slc16a7	UTSW	10	125,130,569 (GRCm39)	nonsense	probably null
R3934:Slc16a7	UTSW	10	125,066,712 (GRCm39)	missense	probably damaging	1.00
R3935:Slc16a7	UTSW	10	125,066,712 (GRCm39)	missense	probably damaging	1.00
R4499:Slc16a7	UTSW	10	125,064,056 (GRCm39)	missense	probably damaging	1.00
R4512:Slc16a7	UTSW	10	125,069,308 (GRCm39)	splice site	probably null
R4513:Slc16a7	UTSW	10	125,069,308 (GRCm39)	splice site	probably null
R4514:Slc16a7	UTSW	10	125,069,308 (GRCm39)	splice site	probably null
R5157:Slc16a7	UTSW	10	125,069,333 (GRCm39)	nonsense	probably null
R5247:Slc16a7	UTSW	10	125,067,183 (GRCm39)	missense	probably damaging	1.00
R5385:Slc16a7	UTSW	10	125,130,473 (GRCm39)	missense	possibly damaging	0.85
R6198:Slc16a7	UTSW	10	125,064,084 (GRCm39)	missense	probably benign
R6263:Slc16a7	UTSW	10	125,130,508 (GRCm39)	missense	probably benign	0.16
R6430:Slc16a7	UTSW	10	125,066,887 (GRCm39)	missense	probably damaging	0.97
R7450:Slc16a7	UTSW	10	125,063,920 (GRCm39)	missense	probably benign	0.00
R7680:Slc16a7	UTSW	10	125,066,805 (GRCm39)	missense	probably benign	0.19
R8125:Slc16a7	UTSW	10	125,164,202 (GRCm39)	critical splice donor site	probably null
R9133:Slc16a7	UTSW	10	125,066,536 (GRCm39)	missense	probably benign	0.00
R9301:Slc16a7	UTSW	10	125,066,880 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GGGTTCATTCCAAACCAAACAGCAG -3'
(R):5'- AAATGCCATCAGAGCCTTCCGC -3'

Sequencing Primer
(F):5'- CAGCAGAATCACTTGGAATCTTG -3'
(R):5'- TCATATGCCTTCCCCAAAGC -3'

Posted On

2013-04-16