Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Slc16a1'

268390

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

040673-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

104545984-104565778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104560886 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 397 (L397Q)

Ref Sequence

ENSEMBL: ENSMUSP00000045216 (fasta)

Gene Model

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

AlphaFold

P53986

Predicted Effect

probably damaging
Transcript: ENSMUST00000046212
AA Change: L397Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000045216
Gene: ENSMUSG00000032902
AA Change: L397Q

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

Meta Mutation Damage Score

0.6517

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,257 (GRCm39)	T818A	probably benign	Het
Aasdh	A	G	5: 77,036,629 (GRCm39)	V304A	probably benign	Het
Angptl3	G	A	4: 98,922,702 (GRCm39)	A248T	probably benign	Het
Ap2b1	T	A	11: 83,215,391 (GRCm39)	C112S	possibly damaging	Het
Aqr	A	T	2: 113,967,368 (GRCm39)	I549N	probably damaging	Het
Barhl1	C	T	2: 28,801,562 (GRCm39)	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942 (GRCm39)	V821A	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dnah1	A	G	14: 31,037,105 (GRCm39)	L247P	possibly damaging	Het
Dpysl2	T	A	14: 67,071,819 (GRCm39)	H107L	probably damaging	Het
Dzip3	A	G	16: 48,757,426 (GRCm39)	L869S	probably damaging	Het
Efs	T	C	14: 55,157,552 (GRCm39)	Y160C	probably damaging	Het
Enam	A	T	5: 88,652,306 (GRCm39)	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam184b	A	G	5: 45,740,157 (GRCm39)	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,572,828 (GRCm39)	Y105*	probably null	Het
Fiz1	A	G	7: 5,011,171 (GRCm39)	L449P	probably benign	Het
Foxi2	T	A	7: 135,012,180 (GRCm39)	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,666,914 (GRCm39)	R212Q	probably damaging	Het
Gm5105	C	A	3: 137,755,449 (GRCm39)	A46S	unknown	Het
Grik5	C	T	7: 24,721,996 (GRCm39)	A581T	probably benign	Het
Gse1	C	G	8: 121,299,481 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,346,740 (GRCm39)		probably benign	Het
Krt25	A	C	11: 99,208,124 (GRCm39)	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Lamc1	T	C	1: 153,126,896 (GRCm39)	K417E	probably damaging	Het
Miip	A	G	4: 147,950,371 (GRCm39)	M75T	probably benign	Het
Nlrp10	A	G	7: 108,523,683 (GRCm39)	F599S	probably benign	Het
Nlrp12	T	A	7: 3,289,205 (GRCm39)	M436L	probably benign	Het
Or4b13	T	C	2: 90,082,753 (GRCm39)	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Pard6b	T	C	2: 167,929,259 (GRCm39)		probably benign	Het
Pla2g2e	G	A	4: 138,607,685 (GRCm39)	V22I	probably benign	Het
Plekhd1	A	G	12: 80,764,044 (GRCm39)	E202G	probably damaging	Het
Prss21	A	G	17: 24,091,805 (GRCm39)	T258A	probably benign	Het
Prss34	A	G	17: 25,517,820 (GRCm39)	E65G	probably benign	Het
Psap	A	G	10: 60,130,383 (GRCm39)	N149S	probably benign	Het
Ptprf	C	T	4: 118,095,080 (GRCm39)	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520 (GRCm39)	L12P	probably damaging	Het
Sf3b3	A	G	8: 111,571,155 (GRCm39)	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,065,427 (GRCm39)	R7L	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Spata31e5	T	C	1: 28,815,656 (GRCm39)	D792G	probably benign	Het
Spata31g1	A	G	4: 42,971,864 (GRCm39)	N399S	probably benign	Het
Tas2r102	C	T	6: 132,739,781 (GRCm39)	Q230*	probably null	Het
Tdo2	A	G	3: 81,882,735 (GRCm39)	Y13H	possibly damaging	Het
Tmem231	C	T	8: 112,644,945 (GRCm39)	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,592,353 (GRCm39)	M254T	probably damaging	Het
Trpm1	G	A	7: 63,893,318 (GRCm39)	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,617,879 (GRCm39)	K347N	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Vash2	T	C	1: 190,702,616 (GRCm39)	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,439,866 (GRCm39)	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,760,373 (GRCm39)	T420A	probably benign	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
R1638:Slc16a1	UTSW	3	104,556,798 (GRCm39)	missense	possibly damaging	0.96
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
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'- GAGTGTGCCATTTGCTTGCC -3'
(R):5'- GTGAGTCCAAGATGCACAGG -3'

Sequencing Primer
(F):5'- GCCCCTTTGTCTACAACCTACG -3'
(R):5'- TGGTACACTTGATGCCACG -3'

Posted On

2015-02-19