Mutagenetix > Incidental Mutations

Incidental Mutation 'R7608:Slc16a4'

588421

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 #

R7608 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107303127 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 371 (Y371F)

Ref Sequence

ENSEMBL: ENSMUSP00000029502 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029502
AA Change: Y371F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: Y371F

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 damaging
Transcript: ENSMUST00000106723
AA Change: Y371F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: Y371F

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	A	G	1: 75,177,703	F311S	probably benign	Het
Adamts7	C	A	9: 90,173,773	T193N	possibly damaging	Het
Akr1b7	A	G	6: 34,420,522	N273S	probably damaging	Het
Asz1	G	A	6: 18,077,253	T151M	probably damaging	Het
Atrnl1	T	A	19: 57,714,687	Y1046N	probably damaging	Het
Cacna2d1	T	C	5: 16,359,024	S902P	probably damaging	Het
Casp3	T	A	8: 46,634,333	I105K	probably benign	Het
Ccdc146	C	T	5: 21,301,452	V664I	probably benign	Het
Cfap61	G	A	2: 145,963,531	C267Y	possibly damaging	Het
Dgkz	A	T	2: 91,934,054		probably null	Het
Dnah11	G	T	12: 118,140,770		probably null	Het
Duox1	C	A	2: 122,326,135	Y514*	probably null	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fam214b	A	G	4: 43,036,533	L66P	probably damaging	Het
Fan1	A	T	7: 64,354,231		probably null	Het
Fgfrl1	A	T	5: 108,705,345	K278M	probably damaging	Het
Fign	T	C	2: 63,978,719	I736V	possibly damaging	Het
Galns	A	G	8: 122,591,445	F410S	probably benign	Het
Hspbp1	C	A	7: 4,660,822	K341N	possibly damaging	Het
Idh3b	A	T	2: 130,280,980	S296R	probably damaging	Het
Ifi44	A	G	3: 151,732,408	F414S	probably damaging	Het
Kdm3a	T	A	6: 71,600,747	M690L	probably benign	Het
Lrrc49	C	T	9: 60,602,722	G488S	probably null	Het
Mcc	T	C	18: 44,491,227	N417S	possibly damaging	Het
Melk	T	A	4: 44,325,571		probably null	Het
Mtcl1	T	C	17: 66,343,305	R1722G	probably damaging	Het
Olfr1252	A	G	2: 89,721,298	V271A	probably benign	Het
Olfr1475	G	A	19: 13,479,592	T202I	possibly damaging	Het
Olfr562-ps1	A	G	7: 102,781,925	I150V	probably benign	Het
Olfr924	T	A	9: 38,848,510	V132D	possibly damaging	Het
Pdzrn3	T	C	6: 101,151,752	E651G	probably damaging	Het
Pop5	A	G	5: 115,237,872		probably benign	Het
Prox1	T	A	1: 190,153,445	M602L	probably benign	Het
Prpf39	G	A	12: 65,053,446	A298T	probably benign	Het
Scg2	T	C	1: 79,436,181	E275G	probably benign	Het
Scn11a	A	T	9: 119,815,313		probably null	Het
Slc4a1ap	T	A	5: 31,536,189	M489K	possibly damaging	Het
Spata13	A	G	14: 60,692,507	N505D	possibly damaging	Het
Tas2r129	A	G	6: 132,951,193	N31S	probably damaging	Het
Tmem159	A	G	7: 120,104,788	K19E	probably damaging	Het
Tnn	A	T	1: 160,088,414	Y1508*	probably null	Het
Trim23	T	C	13: 104,192,033	V354A	probably benign	Het
Tsc1	A	T	2: 28,658,736	T18S	probably benign	Het
Txlnb	A	G	10: 17,815,398	K232R	probably damaging	Het
Vmn1r53	C	T	6: 90,224,122	M73I	probably benign	Het
Vmn1r67	G	A	7: 10,447,363	V185M	possibly damaging	Het
Vmn2r14	A	G	5: 109,221,410	I99T	probably benign	Het
Zfp318	T	G	17: 46,400,009	V886G	probably damaging	Het
Zfp760	A	G	17: 21,722,816	N324S	probably benign	Het
Zfp819	T	C	7: 43,616,933	V280A	probably benign	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
R6811:Slc16a4	UTSW	3	107298917	missense	probably benign	0.06
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
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'- GCAGCATCCTGGTATTTTACTAG -3'
(R):5'- AGGAAGGCTGTTACTGTACTGAG -3'

Sequencing Primer
(F):5'- CACTATGAAACCATTTTTCCCTCC -3'
(R):5'- CTGGCAGTATTAGTGCCA -3'

Posted On

2019-10-24