Mutagenetix > Incidental Mutation

Incidental Mutation 'R8439:Slc16a1'

654147

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

067883-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8439 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104545984-104565778 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 104560149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 151 (M151I)

Ref Sequence

ENSEMBL: ENSMUSP00000045216 (fasta)

Gene Model

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

AlphaFold

P53986

Predicted Effect

probably benign
Transcript: ENSMUST00000046212
AA Change: M151I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000045216
Gene: ENSMUSG00000032902
AA Change: M151I

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	T	10: 79,841,995 (GRCm39)	T1043S	probably benign	Het
Acadvl	T	A	11: 69,902,554 (GRCm39)	K410*	probably null	Het
Adam8	C	T	7: 139,567,762 (GRCm39)	G354D	probably benign	Het
Ahctf1	T	C	1: 179,590,175 (GRCm39)	E1366G	possibly damaging	Het
Bahcc1	C	A	11: 120,165,415 (GRCm39)	Q949K	probably benign	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Ccdc141	T	A	2: 76,889,894 (GRCm39)	Y466F	possibly damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cyp4a30b	C	A	4: 115,314,972 (GRCm39)	Q185K	probably benign	Het
Dlx2	A	T	2: 71,375,882 (GRCm39)	I147K	possibly damaging	Het
Dnaaf6rt	T	A	1: 31,262,349 (GRCm39)	D110E	probably damaging	Het
Dnaaf9	A	G	2: 130,612,621 (GRCm39)	L482S	probably damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dock7	C	A	4: 98,971,266 (GRCm39)	V100F		Het
Dspp	C	A	5: 104,325,162 (GRCm39)	D508E	unknown	Het
Duox2	G	T	2: 122,128,636 (GRCm39)	T4K	probably benign	Het
Ear1	T	C	14: 44,056,704 (GRCm39)	N55D	probably damaging	Het
Echdc1	G	C	10: 29,210,242 (GRCm39)	E179Q	probably damaging	Het
Ehbp1	T	C	11: 22,046,109 (GRCm39)	M547V	possibly damaging	Het
Erbb2	A	G	11: 98,319,798 (GRCm39)	N630S	possibly damaging	Het
Fam227a	G	A	15: 79,514,271 (GRCm39)	S363L	possibly damaging	Het
Fam98b	A	G	2: 117,101,381 (GRCm39)	R398G	unknown	Het
Fsip2	G	A	2: 82,807,430 (GRCm39)	D1250N	probably benign	Het
Gdnf	G	T	15: 7,864,134 (GRCm39)	E182*	probably null	Het
Gys2	T	C	6: 142,406,921 (GRCm39)	H145R	probably benign	Het
Hcls1	A	G	16: 36,767,003 (GRCm39)	K69R	probably benign	Het
Itih5	A	G	2: 10,239,869 (GRCm39)	N332S	probably benign	Het
Kcnb2	T	A	1: 15,382,934 (GRCm39)	Y87N	probably damaging	Het
Lrriq3	A	G	3: 154,893,873 (GRCm39)	N525D	probably damaging	Het
Lsg1	A	T	16: 30,380,569 (GRCm39)	W623R	probably damaging	Het
Myo10	A	G	15: 25,725,158 (GRCm39)	Y243C	probably benign	Het
Nans	T	C	4: 46,492,814 (GRCm39)	Y81H	probably damaging	Het
Nup54	T	G	5: 92,573,605 (GRCm39)	N199T	probably benign	Het
Or2h1	A	G	17: 37,404,664 (GRCm39)	L34P	probably damaging	Het
Or4c126	C	T	2: 89,824,348 (GRCm39)	L204F	probably benign	Het
Or4k15	T	C	14: 50,364,604 (GRCm39)	I190T	probably benign	Het
Or5w13	A	T	2: 87,524,088 (GRCm39)	I46N	probably damaging	Het
Or7d9	T	A	9: 20,197,337 (GRCm39)	L122*	probably null	Het
Pcnt	G	A	10: 76,256,039 (GRCm39)	R734W	probably damaging	Het
Peg10	T	C	6: 4,755,462 (GRCm39)	F13L	possibly damaging	Het
Plcb1	T	C	2: 135,091,972 (GRCm39)		probably null	Het
Ppfibp1	T	C	6: 146,902,448 (GRCm39)	V285A	possibly damaging	Het
Prpf39	T	C	12: 65,102,036 (GRCm39)	V371A	possibly damaging	Het
Psmb11	G	A	14: 54,863,013 (GRCm39)	C77Y	probably damaging	Het
Rrbp1	A	G	2: 143,797,053 (GRCm39)	L1133P	probably benign	Het
Tarm1	G	T	7: 3,546,037 (GRCm39)	Q89K	possibly damaging	Het
Tas2r116	T	C	6: 132,832,540 (GRCm39)	I47T	probably damaging	Het
Tmod3	T	C	9: 75,436,680 (GRCm39)	D85G	probably damaging	Het
Trbv14	T	C	6: 41,112,299 (GRCm39)	L32P	probably benign	Het
Trim16	T	C	11: 62,741,414 (GRCm39)	L486P	probably benign	Het
Trmt1l	T	G	1: 151,325,727 (GRCm39)	S391A	probably benign	Het
Ush2a	T	A	1: 188,582,254 (GRCm39)	N3772K	probably damaging	Het
Vmn1r230	G	T	17: 21,066,870 (GRCm39)	A20S	probably benign	Het
Wdr76	A	G	2: 121,341,179 (GRCm39)	N75D	possibly damaging	Het
Zfp977	A	G	7: 42,230,102 (GRCm39)	L141S	probably benign	Het
Zfp988	A	G	4: 147,416,808 (GRCm39)	D414G	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
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
R9255:Slc16a1	UTSW	3	104,560,148 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATACATGCCTTAGCCATGCC -3'
(R):5'- TTCCAGCTTCCTGTAGAGATTC -3'

Sequencing Primer
(F):5'- AGCCATGCCCCACTTACTCTAATG -3'
(R):5'- CAGCTTCCTGTAGAGATTCTTTGGAC -3'

Posted On

2020-10-20