Mutagenetix > Incidental Mutations

Incidental Mutation 'R6811:Slc16a4'

533795

Institutional Source

Beutler Lab

Gene Symbol

Slc16a4

Ensembl Gene

ENSMUSG00000027896

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 4

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6811 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107298917 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 101 (Y101C)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029502] [ENSMUST00000106723]

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: Y101C

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: Y101C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	27	373	8.2e-26	PFAM
Pfam:MFS_1	305	499	2e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106723
AA Change: Y101C

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: Y101C

Domain	Start	End	E-Value	Type
Pfam:MFS_1	27	375	2.1e-28	PFAM
Pfam:MFS_1	327	462	3.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.1%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,529,361	S69P	probably damaging	Het
Alkbh7	G	T	17: 56,997,392	R10L	probably benign	Het
Ano3	T	C	2: 110,880,867	E84G	probably benign	Het
Asxl3	A	G	18: 22,522,911	E1326G	possibly damaging	Het
Atrnl1	T	G	19: 57,654,961	M427R	probably damaging	Het
Cenpf	T	C	1: 189,654,542	E1847G	probably benign	Het
Csf1r	T	C	18: 61,119,053	Y536H	probably damaging	Het
Dnm3	T	C	1: 162,321,083	K240E	probably damaging	Het
Dsc1	T	G	18: 20,089,654	E587A	probably benign	Het
Gm16486	T	C	8: 70,716,773	S1171P	probably benign	Het
Gm19410	C	A	8: 35,772,579	A143E	probably damaging	Het
Gm19965	G	T	1: 116,804,079	L38F	probably damaging	Het
Helz	T	C	11: 107,619,318		probably null	Het
Herc2	C	T	7: 56,113,433	R929*	probably null	Het
Krt31	A	G	11: 100,048,416	L225P	probably damaging	Het
Lrp1b	T	C	2: 40,715,500		probably null	Het
Lrp1b	A	G	2: 41,449,194	V765A	probably benign	Het
Lsm5	A	G	6: 56,702,142	I34T	possibly damaging	Het
Ly6g6c	T	C	17: 35,069,410	L86P	probably damaging	Het
Megf11	A	G	9: 64,544,641	T116A	probably damaging	Het
Megf6	T	C	4: 154,252,161	C190R	probably damaging	Het
Mroh9	A	G	1: 163,046,041	V515A	possibly damaging	Het
Mtbp	C	A	15: 55,606,546		probably null	Het
Myo9b	T	A	8: 71,356,578	F1810L	probably damaging	Het
Nacad	T	G	11: 6,599,400	K180Q	possibly damaging	Het
Ncf2	G	A	1: 152,836,040	V502I	probably benign	Het
Npsr1	T	A	9: 24,134,809	C75S	probably benign	Het
Oog3	T	C	4: 144,159,582	T149A	probably benign	Het
Pank1	T	A	19: 34,841,022	Q39L	probably benign	Het
Pdx1	T	C	5: 147,274,664	S232P	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pirb	A	T	7: 3,719,642	V117E	possibly damaging	Het
Ppl	G	A	16: 5,089,144	L1096F	probably damaging	Het
Rev3l	T	A	10: 39,830,921	Y2223*	probably null	Het
Slc17a3	A	T	13: 23,855,941	I321F	possibly damaging	Het
Sufu	T	A	19: 46,449,878	D168E	probably damaging	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tldc1	A	T	8: 119,768,290	I243N	possibly damaging	Het
Vmn1r237	T	G	17: 21,314,386	S124A	probably benign	Het
Vmn2r60	T	A	7: 42,194,886	C558S	probably damaging	Het
Vwa5b1	G	A	4: 138,592,103	T414I	probably benign	Het
Zfp651	T	C	9: 121,766,529	S573P	probably damaging	Het
Zfp971	T	G	2: 178,033,881	C424W	possibly damaging	Het

Other mutations in Slc16a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Slc16a4	APN	3	107303100	missense	possibly damaging	0.67
IGL01311:Slc16a4	APN	3	107292505	missense	possibly damaging	0.83
IGL01509:Slc16a4	APN	3	107311434	critical splice acceptor site	probably null
IGL01780:Slc16a4	APN	3	107303099	missense	probably benign	0.00
IGL02294:Slc16a4	APN	3	107301068	missense	probably benign	0.00
IGL02350:Slc16a4	APN	3	107303099	missense	probably benign	0.00
IGL02357:Slc16a4	APN	3	107303099	missense	probably benign	0.00
IGL02792:Slc16a4	APN	3	107298877	missense	probably benign
IGL02873:Slc16a4	APN	3	107300795	missense	probably benign	0.00
IGL03001:Slc16a4	APN	3	107311542	missense	possibly damaging	0.91
IGL03002:Slc16a4	APN	3	107300786	missense	probably benign	0.07
R0370:Slc16a4	UTSW	3	107301097	missense	possibly damaging	0.66
R0525:Slc16a4	UTSW	3	107297939	splice site	probably benign
R1192:Slc16a4	UTSW	3	107298873	missense	probably benign	0.07
R1458:Slc16a4	UTSW	3	107300932	missense	probably benign	0.00
R1939:Slc16a4	UTSW	3	107301001	missense	probably benign	0.00
R2061:Slc16a4	UTSW	3	107300711	missense	probably benign	0.00
R2098:Slc16a4	UTSW	3	107300847	nonsense	probably null
R2102:Slc16a4	UTSW	3	107304503	splice site	probably null
R3411:Slc16a4	UTSW	3	107300872	missense	probably benign
R4983:Slc16a4	UTSW	3	107300860	missense	probably benign	0.00
R5394:Slc16a4	UTSW	3	107292442	missense	probably benign
R5804:Slc16a4	UTSW	3	107298964	missense	probably benign	0.04
R6077:Slc16a4	UTSW	3	107301065	missense	possibly damaging	0.91
R6626:Slc16a4	UTSW	3	107301196	missense	possibly damaging	0.95
R6693:Slc16a4	UTSW	3	107303064	missense	probably damaging	1.00
R6823:Slc16a4	UTSW	3	107311498	missense	probably benign	0.02
R6982:Slc16a4	UTSW	3	107299273	missense	probably benign	0.01
R7050:Slc16a4	UTSW	3	107300832	missense	probably benign
R7103:Slc16a4	UTSW	3	107311471	missense	probably damaging	1.00
R7608:Slc16a4	UTSW	3	107303127	missense	probably damaging	1.00
R7623:Slc16a4	UTSW	3	107297981	missense	possibly damaging	0.71
R8013:Slc16a4	UTSW	3	107311478	missense	probably damaging	1.00
R8014:Slc16a4	UTSW	3	107311478	missense	probably damaging	1.00
X0018:Slc16a4	UTSW	3	107300815	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAGGCCACTAGTACAAACATG -3'
(R):5'- CCACAGCAGCTACTTGGTAC -3'

Sequencing Primer
(F):5'- ATACCAATTGTCTTGCTTTCCTCTG -3'
(R):5'- GTGTGAACTCACCAGGTA -3'

Posted On

2018-09-12