Mutagenetix > Incidental Mutation

Incidental Mutation 'R0466:Slc16a3'

41652

Institutional Source

Beutler Lab

Gene Symbol

Slc16a3

Ensembl Gene

ENSMUSG00000025161

Gene Name

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

Synonyms

monocarboxylate transporter 4, MCT3, MCT4

MMRRC Submission

038666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0466 (G1)

Quality Score

126

Status

Validated

Chromosome

Chromosomal Location

120839310-120849826 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120848878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 445 (S445P)

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

possibly damaging
Transcript: ENSMUST00000070653
AA Change: S445P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000068854
Gene: ENSMUSG00000025161
AA Change: S445P

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

possibly damaging
Transcript: ENSMUST00000100130
AA Change: S445P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097706
Gene: ENSMUSG00000025161
AA Change: S445P

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

possibly damaging
Transcript: ENSMUST00000168579
AA Change: S445P

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125846
Gene: ENSMUSG00000025161
AA Change: S445P

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

97% (63/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,887,321 (GRCm39)	Y373C	probably benign	Het
Abca12	T	G	1: 71,341,822 (GRCm39)	Q1046H	probably damaging	Het
Adgrv1	A	G	13: 81,714,415 (GRCm39)	F956S	probably benign	Het
Alk	A	G	17: 72,212,152 (GRCm39)	V797A	possibly damaging	Het
Ascl2	A	G	7: 142,522,217 (GRCm39)	L77P	probably benign	Het
Aspm	A	T	1: 139,405,639 (GRCm39)	I1509F	probably damaging	Het
AY358078	A	T	14: 52,043,089 (GRCm39)	Y259F	unknown	Het
Cbs	G	A	17: 31,835,126 (GRCm39)	A450V	probably benign	Het
Cdh11	T	A	8: 103,396,690 (GRCm39)	Q213L	possibly damaging	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cfap126	T	C	1: 170,953,769 (GRCm39)	I113T	probably damaging	Het
Clk4	A	G	11: 51,158,155 (GRCm39)	D53G	possibly damaging	Het
Dab1	T	C	4: 104,577,747 (GRCm39)	L272P	probably benign	Het
Dmtf1	A	T	5: 9,182,454 (GRCm39)		probably null	Het
Dph5	A	C	3: 115,722,359 (GRCm39)	D279A	probably benign	Het
Fbxw19	T	A	9: 109,307,717 (GRCm39)	T461S	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gcg	T	C	2: 62,307,282 (GRCm39)	D93G	probably damaging	Het
Gmps	A	G	3: 63,901,365 (GRCm39)	T395A	probably damaging	Het
H2-Ob	A	G	17: 34,461,633 (GRCm39)	D124G	probably damaging	Het
Itga8	G	T	2: 12,237,697 (GRCm39)	A341E	probably damaging	Het
Itih3	A	G	14: 30,634,831 (GRCm39)		probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kif2c	C	T	4: 117,029,489 (GRCm39)	R215Q	possibly damaging	Het
Letm1	A	C	5: 33,919,074 (GRCm39)		probably benign	Het
Lypd8l	T	C	11: 58,503,331 (GRCm39)		probably benign	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Myh8	G	T	11: 67,189,405 (GRCm39)	A1194S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nfib	A	C	4: 82,416,775 (GRCm39)	Y87D	probably damaging	Het
Nlrp4a	T	C	7: 26,162,045 (GRCm39)		probably benign	Het
Nsmce1	A	T	7: 125,071,408 (GRCm39)		probably benign	Het
Odad2	T	A	18: 7,286,758 (GRCm39)	I158F	probably benign	Het
Or7g12	T	G	9: 18,899,551 (GRCm39)	V89G	probably benign	Het
Or7g27	A	T	9: 19,250,475 (GRCm39)	T240S	probably damaging	Het
Patj	C	A	4: 98,576,393 (GRCm39)	Q1193K	probably damaging	Het
Pcdhb5	G	A	18: 37,455,596 (GRCm39)	V659M	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pmis2	T	C	7: 30,370,817 (GRCm39)	I46V	probably benign	Het
Ppp2r5e	A	G	12: 75,509,216 (GRCm39)		probably benign	Het
Prom2	A	G	2: 127,370,709 (GRCm39)	F825S	probably damaging	Het
Rab11fip2	G	A	19: 59,894,675 (GRCm39)	A524V	possibly damaging	Het
Rb1cc1	A	C	1: 6,333,491 (GRCm39)		probably null	Het
Rwdd3	G	C	3: 120,952,668 (GRCm39)	Q180E	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgcg	A	T	14: 61,459,135 (GRCm39)	C265S	probably damaging	Het
Slc22a3	G	A	17: 12,677,380 (GRCm39)	Q263*	probably null	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tbc1d15	T	C	10: 115,055,077 (GRCm39)	K322E	probably damaging	Het
Tecta	G	T	9: 42,284,369 (GRCm39)	F905L	probably benign	Het
Tmeff1	A	G	4: 48,636,853 (GRCm39)	I184V	possibly damaging	Het
Ttf1	A	G	2: 28,955,419 (GRCm39)	H261R	possibly damaging	Het
Ttll6	T	A	11: 96,036,417 (GRCm39)	L349M	probably damaging	Het
Ubac2	G	A	14: 122,211,031 (GRCm39)	V134M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r25	T	G	6: 123,829,008 (GRCm39)	I89L	probably benign	Het
Vmn2r6	A	C	3: 64,463,723 (GRCm39)	F370L	probably damaging	Het
Vps13b	T	A	15: 35,445,748 (GRCm39)	Y412*	probably null	Het
Zfp142	A	G	1: 74,624,570 (GRCm39)	S85P	possibly damaging	Het
Zfp516	G	A	18: 82,975,579 (GRCm39)		probably null	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
IGL01970: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
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

Predicted Primers

PCR Primer
(F):5'- GCTGCTGGATGCAACCAAAGTTTAC -3'
(R):5'- TTTGGAATGACGCGGTTCCCAC -3'

Sequencing Primer
(F):5'- ACAAGTATGTGTTCATCCTGGC -3'
(R):5'- CCAAGAGCTGAGCCGATG -3'

Posted On

2013-05-23