Mutagenetix > Incidental Mutation

Incidental Mutation 'R1638:Slc16a1'

173289

Institutional Source

Beutler Lab

Gene Symbol

Slc16a1

Ensembl Gene

ENSMUSG00000032902

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 1

Synonyms

MCT1

MMRRC Submission

039674-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1638 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104545984-104565778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104556798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 61 (I61T)

Ref Sequence

ENSEMBL: ENSMUSP00000045216 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046212]

AlphaFold

P53986

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046212
AA Change: I61T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000045216
Gene: ENSMUSG00000032902
AA Change: I61T

Domain	Start	End	E-Value	Type
Pfam:MFS_1	17	399	3e-33	PFAM
Pfam:MFS_1	325	480	1.6e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196766

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199375

Meta Mutation Damage Score

0.9235

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 94.9%
20x: 87.8%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a proton-linked monocarboxylate transporter that catalyzes the movement of many monocarboxylates, such as lactate and pyruvate, across the plasma membrane. Mutations in this gene are associated with erythrocyte lactate transporter defect. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygotes are non-viable, while heterozygous animals are resistant to diet-induced obesity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Agfg1	A	T	1: 82,871,259 (GRCm39)	Q497L	probably damaging	Het
Ahnak	A	G	19: 8,986,813 (GRCm39)	H2699R	probably benign	Het
Antxrl	G	T	14: 33,792,453 (GRCm39)		probably null	Het
Apol7c	A	T	15: 77,410,418 (GRCm39)	V176E	probably damaging	Het
Arid5b	T	C	10: 68,113,777 (GRCm39)	N87D	possibly damaging	Het
Atp2c1	A	T	9: 105,309,897 (GRCm39)	I560N	probably damaging	Het
Atp2c2	T	C	8: 120,482,742 (GRCm39)	F868S	possibly damaging	Het
Blnk	G	C	19: 40,926,122 (GRCm39)	F326L	probably benign	Het
Bltp1	C	T	3: 37,089,961 (GRCm39)	R4130*	probably null	Het
Ckap2	C	T	8: 22,665,812 (GRCm39)	V412I	possibly damaging	Het
Clmn	A	G	12: 104,748,281 (GRCm39)	V422A	probably benign	Het
Ctnnal1	A	G	4: 56,813,856 (GRCm39)	S638P	probably benign	Het
Cyp2j5	T	C	4: 96,524,052 (GRCm39)	S327G	probably benign	Het
Dhx38	G	A	8: 110,280,177 (GRCm39)	T871M	probably damaging	Het
Dmxl1	A	T	18: 50,023,834 (GRCm39)	K1706*	probably null	Het
Dnah11	A	G	12: 117,979,154 (GRCm39)	L2648P	possibly damaging	Het
Elf2	G	A	3: 51,215,530 (GRCm39)	T60I	probably damaging	Het
Fam120b	T	A	17: 15,622,759 (GRCm39)	C246S	possibly damaging	Het
Fcho2	G	T	13: 98,882,403 (GRCm39)	T451K	possibly damaging	Het
Fzd9	T	A	5: 135,278,602 (GRCm39)	I428F	probably damaging	Het
Galnt13	T	A	2: 54,744,667 (GRCm39)	V122E	probably damaging	Het
Gm21738	T	A	14: 19,418,908 (GRCm38)	Y8F	probably benign	Het
Gnptab	A	G	10: 88,272,029 (GRCm39)	I940V	possibly damaging	Het
Gp2	A	G	7: 119,050,721 (GRCm39)		probably null	Het
Gpr6	A	G	10: 40,946,530 (GRCm39)	S351P	probably benign	Het
Gprin1	T	C	13: 54,887,689 (GRCm39)	E195G	possibly damaging	Het
Grm8	A	T	6: 28,125,882 (GRCm39)	Y81*	probably null	Het
Gtf3c3	A	T	1: 54,444,278 (GRCm39)	N703K	probably damaging	Het
Hhipl2	G	A	1: 183,208,921 (GRCm39)	V495I	probably benign	Het
Islr	G	A	9: 58,065,502 (GRCm39)		probably benign	Het
Lrrc36	T	C	8: 106,176,273 (GRCm39)	Y216H	possibly damaging	Het
Macroh2a1	T	A	13: 56,252,722 (GRCm39)	N87Y	probably damaging	Het
Me2	A	G	18: 73,906,205 (GRCm39)	I528T	probably benign	Het
Mecr	A	T	4: 131,585,127 (GRCm39)	I156F	possibly damaging	Het
Megf6	A	G	4: 154,346,967 (GRCm39)		probably benign	Het
Mn1	T	A	5: 111,569,435 (GRCm39)	L1135H	probably damaging	Het
Naip5	A	G	13: 100,349,177 (GRCm39)	S1384P	probably damaging	Het
Nav2	A	G	7: 49,102,213 (GRCm39)	N337S	probably benign	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Neb	A	T	2: 52,139,293 (GRCm39)	H3107Q	probably benign	Het
Nebl	A	G	2: 17,381,462 (GRCm39)	V738A	possibly damaging	Het
Nsd2	G	A	5: 34,039,464 (GRCm39)	R825Q	possibly damaging	Het
Nsun2	A	G	13: 69,775,705 (GRCm39)	N383S	probably damaging	Het
Ntrk3	A	T	7: 77,897,036 (GRCm39)	M667K	probably damaging	Het
Or10a48	A	C	7: 108,424,442 (GRCm39)	C255G	probably benign	Het
Or11h6	G	A	14: 50,880,565 (GRCm39)	V276M	possibly damaging	Het
Or1e29	A	G	11: 73,667,974 (GRCm39)	Y60H	possibly damaging	Het
Or6c2	A	T	10: 129,362,488 (GRCm39)	M131L	probably benign	Het
Pex6	T	C	17: 47,033,558 (GRCm39)	V633A	probably benign	Het
Phactr1	C	T	13: 43,110,147 (GRCm39)	T95M	probably damaging	Het
Pik3r4	A	G	9: 105,564,408 (GRCm39)	D1334G	probably damaging	Het
Pkhd1l1	A	C	15: 44,460,513 (GRCm39)	I4241L	probably benign	Het
Ppwd1	T	C	13: 104,356,771 (GRCm39)	E248G	probably damaging	Het
Prepl	A	C	17: 85,379,509 (GRCm39)	M393R	probably benign	Het
Ptpn6	T	C	6: 124,698,148 (GRCm39)	S532G	probably benign	Het
Rnase11	G	T	14: 51,287,058 (GRCm39)	H165Q	possibly damaging	Het
Sf1	A	G	19: 6,422,090 (GRCm39)	N172S	possibly damaging	Het
Shprh	T	A	10: 11,032,822 (GRCm39)	D269E	probably benign	Het
Slc38a2	A	C	15: 96,590,417 (GRCm39)	I309S	probably damaging	Het
Sry	C	G	Y: 2,663,149 (GRCm39)	Q170H	unknown	Het
Stk3	A	C	15: 35,008,454 (GRCm39)		probably null	Het
Tg	C	A	15: 66,568,015 (GRCm39)	C1306*	probably null	Het
Tnik	A	G	3: 28,719,889 (GRCm39)	M1254V	probably damaging	Het
U2surp	T	C	9: 95,366,280 (GRCm39)	E474G	possibly damaging	Het
Vmn1r224	T	A	17: 20,639,587 (GRCm39)	F55I	probably benign	Het
Vmn1r32	A	G	6: 66,529,939 (GRCm39)	I279T	possibly damaging	Het
Zc2hc1a	A	G	3: 7,581,543 (GRCm39)	D15G	probably benign	Het
Zfp827	C	A	8: 79,802,975 (GRCm39)	P516T	possibly damaging	Het
Zfyve9	A	T	4: 108,542,104 (GRCm39)		probably null	Het

Other mutations in Slc16a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0432:Slc16a1	UTSW	3	104,560,735 (GRCm39)	missense	probably benign	0.00
R0532:Slc16a1	UTSW	3	104,560,734 (GRCm39)	nonsense	probably null
R1826:Slc16a1	UTSW	3	104,558,255 (GRCm39)	missense	probably benign	0.22
R1900:Slc16a1	UTSW	3	104,560,880 (GRCm39)	missense	probably damaging	0.97
R1964:Slc16a1	UTSW	3	104,556,782 (GRCm39)	missense	probably damaging	1.00
R3615:Slc16a1	UTSW	3	104,560,886 (GRCm39)	missense	probably damaging	1.00
R3616:Slc16a1	UTSW	3	104,560,886 (GRCm39)	missense	probably damaging	1.00
R4485:Slc16a1	UTSW	3	104,562,794 (GRCm39)	missense	probably benign	0.13
R4772:Slc16a1	UTSW	3	104,560,880 (GRCm39)	missense	possibly damaging	0.80
R6106:Slc16a1	UTSW	3	104,560,310 (GRCm39)	missense	probably benign
R6123:Slc16a1	UTSW	3	104,560,510 (GRCm39)	missense	probably benign
R8439:Slc16a1	UTSW	3	104,560,149 (GRCm39)	missense	probably benign	0.07
R9255:Slc16a1	UTSW	3	104,560,148 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAGGTTTGTTGCTCCCCTTGC -3'
(R):5'- AGCTGCCAGTGTTGTCAGAGATG -3'

Sequencing Primer
(F):5'- CAGATACTAGATTTGCGCTGC -3'
(R):5'- TCAGAGATGAAAAGCACGCTTAATAC -3'

Posted On

2014-04-24