Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01970:Slc16a3'

279258

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc16a3

Ensembl Gene

ENSMUSG00000025161

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 3

Synonyms

monocarboxylate transporter 4, MCT3, MCT4

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01970

Quality Score

Status

Chromosome

Chromosomal Location

120839310-120849826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 120847864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 351 (V351M)

Ref Sequence

ENSEMBL: ENSMUSP00000125846 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018274] [ENSMUST00000070575] [ENSMUST00000070653] [ENSMUST00000100130] [ENSMUST00000129473] [ENSMUST00000133029] [ENSMUST00000168579] [ENSMUST00000154187]

AlphaFold

P57787

Predicted Effect

probably benign
Transcript: ENSMUST00000018274

SMART Domains

Protein: ENSMUSP00000018274
Gene: ENSMUSG00000025162

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	9	273	3.7e-18	PFAM
Pfam:Pkinase	9	277	1.8e-28	PFAM
low complexity region	299	314	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000070575

SMART Domains

Protein: ENSMUSP00000070721
Gene: ENSMUSG00000025162

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	9	273	1.6e-18	PFAM
Pfam:Pkinase	9	280	2.8e-41	PFAM
low complexity region	299	314	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000070653
AA Change: V351M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000068854
Gene: ENSMUSG00000025161
AA Change: V351M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	25	375	6.3e-32	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
low complexity region	420	432	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100130
AA Change: V351M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097706
Gene: ENSMUSG00000025161
AA Change: V351M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	25	375	6.3e-32	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
low complexity region	420	432	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000129473

SMART Domains

Protein: ENSMUSP00000117275
Gene: ENSMUSG00000025161

Domain	Start	End	E-Value	Type
Pfam:MFS_1	25	290	5.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133029

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134540

Predicted Effect

probably damaging
Transcript: ENSMUST00000168579
AA Change: V351M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125846
Gene: ENSMUSG00000025161
AA Change: V351M

Domain	Start	End	E-Value	Type
Pfam:MFS_1	25	375	8.3e-32	PFAM
transmembrane domain	390	412	N/A	INTRINSIC
low complexity region	420	432	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140467

Predicted Effect

probably benign
Transcript: ENSMUST00000154187

SMART Domains

Protein: ENSMUSP00000122784
Gene: ENSMUSG00000025161

Domain	Start	End	E-Value	Type
Pfam:MFS_1	25	253	3.7e-24	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Lactic acid and pyruvate transport across plasma membranes is catalyzed by members of the proton-linked monocarboxylate transporter (MCT) family, which has been designated solute carrier family-16. Each MCT appears to have slightly different substrate and inhibitor specificities and transport kinetics, which are related to the metabolic requirements of the tissues in which it is found. The MCTs, which include MCT1 (SLC16A1; MIM 600682) and MCT2 (SLC16A7; MIM 603654), are characterized by 12 predicted transmembrane domains (Price et al., 1998 [PubMed 9425115]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cdk9	T	C	2: 32,598,063 (GRCm39)	H280R	possibly damaging	Het
Cenpt	C	T	8: 106,571,748 (GRCm39)	R461H	probably damaging	Het
Cpa4	A	G	6: 30,579,645 (GRCm39)	T151A	probably benign	Het
Glrb	A	G	3: 80,769,232 (GRCm39)	I165T	possibly damaging	Het
Gm17305	A	T	11: 69,255,646 (GRCm39)		probably benign	Het
Kdm5b	T	A	1: 134,528,465 (GRCm39)	S391T	probably damaging	Het
Klrg2	T	C	6: 38,613,383 (GRCm39)	K207E	probably damaging	Het
Krt1	T	C	15: 101,755,299 (GRCm39)	I487V	possibly damaging	Het
Krt27	A	G	11: 99,239,547 (GRCm39)	L311P	probably damaging	Het
Leng9	T	C	7: 4,151,326 (GRCm39)	Y450C	probably damaging	Het
Oacyl	A	T	18: 65,882,785 (GRCm39)	I627F	possibly damaging	Het
Perm1	G	T	4: 156,302,118 (GRCm39)	G221W	probably damaging	Het
Rft1	C	T	14: 30,412,492 (GRCm39)	L518F	probably benign	Het
Sdk1	A	T	5: 142,071,437 (GRCm39)	Q1209L	possibly damaging	Het
Selenbp1	A	G	3: 94,844,313 (GRCm39)	S57G	probably benign	Het
Sema5a	T	C	15: 32,686,792 (GRCm39)	M968T	probably benign	Het
Sorbs2	G	A	8: 46,198,840 (GRCm39)	V73I	probably damaging	Het
Specc1l	T	A	10: 75,081,595 (GRCm39)	D347E	probably damaging	Het
Tas2r116	A	C	6: 132,832,632 (GRCm39)	T78P	probably benign	Het
Tpm3	A	G	3: 89,997,135 (GRCm39)	E224G	probably damaging	Het
Trnau1ap	T	C	4: 132,041,298 (GRCm39)		probably benign	Het
Vmn2r17	T	A	5: 109,575,813 (GRCm39)	M228K	probably damaging	Het
Vnn1	T	C	10: 23,773,300 (GRCm39)	I109T	probably benign	Het
Wee1	C	A	7: 109,738,457 (GRCm39)	H523Q	probably damaging	Het
Xpr1	T	C	1: 155,165,980 (GRCm39)	N524S	probably benign	Het

Other mutations in Slc16a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01662:Slc16a3	APN	11	120,847,532 (GRCm39)	nonsense	probably null
IGL01943:Slc16a3	APN	11	120,847,709 (GRCm39)	splice site	probably null
IGL01967:Slc16a3	APN	11	120,847,864 (GRCm39)	missense	probably damaging	0.99
IGL02189:Slc16a3	APN	11	120,847,597 (GRCm39)	missense	probably benign	0.01
PIT4131001:Slc16a3	UTSW	11	120,846,172 (GRCm39)	missense	probably damaging	1.00
R0010:Slc16a3	UTSW	11	120,847,531 (GRCm39)	missense	probably benign	0.00
R0466:Slc16a3	UTSW	11	120,848,878 (GRCm39)	missense	possibly damaging	0.77
R3967:Slc16a3	UTSW	11	120,846,251 (GRCm39)	missense	possibly damaging	0.63
R4471:Slc16a3	UTSW	11	120,846,774 (GRCm39)	splice site	probably benign
R4913:Slc16a3	UTSW	11	120,848,794 (GRCm39)	missense	probably benign
R5826:Slc16a3	UTSW	11	120,847,756 (GRCm39)	missense	probably benign
R5863:Slc16a3	UTSW	11	120,848,779 (GRCm39)	missense	probably benign
R6019:Slc16a3	UTSW	11	120,847,931 (GRCm39)	splice site	probably null
R7503:Slc16a3	UTSW	11	120,847,853 (GRCm39)	missense	probably damaging	1.00
R9679:Slc16a3	UTSW	11	120,847,223 (GRCm39)	missense	probably damaging	1.00
X0022:Slc16a3	UTSW	11	120,847,528 (GRCm39)	missense	probably benign	0.04

Posted On

2015-04-16