Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02350:Slc16a4'

289752

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc16a4

Ensembl Gene

ENSMUSG00000027896

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02350

Quality Score

Status

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107303099 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 362 (I362V)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: I362V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: I362V

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: I362V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: I362V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153322

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110035E14Rik	T	C	1: 9,613,319	I44T	possibly damaging	Het
Abhd8	A	G	8: 71,461,477	V169A	probably benign	Het
Adamts16	T	A	13: 70,738,585	T1029S	probably benign	Het
Adgrv1	C	A	13: 81,270,855	C6007F	probably benign	Het
Ak8	A	T	2: 28,700,213	H8L	probably benign	Het
Apol7b	A	G	15: 77,423,632	V221A	probably benign	Het
BC005624	G	A	2: 30,973,767	P235S	probably benign	Het
Cd96	A	G	16: 46,069,776		probably benign	Het
Celf1	A	T	2: 90,998,588	K27I	probably damaging	Het
Cfap65	A	T	1: 74,928,348	C190*	probably null	Het
Cib2	A	T	9: 54,549,886	H31Q	probably damaging	Het
Cyp3a59	T	C	5: 146,079,342	L3P	probably damaging	Het
Dnajc13	T	C	9: 104,162,359	M2104V	possibly damaging	Het
Dph3b-ps	A	G	13: 106,546,945		noncoding transcript	Het
Emb	A	G	13: 117,249,471		probably benign	Het
Fbn2	G	T	18: 58,103,995	N645K	possibly damaging	Het
Fes	T	C	7: 80,383,830		probably null	Het
Flnc	A	T	6: 29,438,493	K129*	probably null	Het
Gckr	C	A	5: 31,307,790	H368N	possibly damaging	Het
Gm5145	A	T	17: 20,570,440	I27F	probably damaging	Het
Hecw1	A	G	13: 14,248,338		probably null	Het
Hivep3	T	G	4: 120,123,025	C1753W	probably damaging	Het
Hook2	C	T	8: 84,994,985	Q291*	probably null	Het
Jakmip2	T	C	18: 43,547,127	T722A	possibly damaging	Het
Kcnt2	A	G	1: 140,351,269	I53V	probably benign	Het
Lipo2	A	G	19: 33,730,948	L222P	possibly damaging	Het
Mrc2	A	G	11: 105,325,721	D112G	probably damaging	Het
Mroh2b	A	G	15: 4,912,000	N338S	probably benign	Het
Mrpl23	T	A	7: 142,536,065		probably benign	Het
Myo18a	A	G	11: 77,850,247	N1442S	probably benign	Het
Ngdn	T	A	14: 55,021,936	V179E	probably damaging	Het
Nxn	A	G	11: 76,274,654		probably benign	Het
Olfr1349	T	A	7: 6,515,226	M68L	probably damaging	Het
Olfr1535	A	G	13: 21,555,602	L140P	probably damaging	Het
Osmr	A	T	15: 6,828,663	N441K	probably benign	Het
Plcb3	A	C	19: 6,958,178	L789R	probably damaging	Het
Plek	C	T	11: 16,981,846	R335H	probably damaging	Het
Pmp22	G	T	11: 63,158,308	V126F	probably benign	Het
Prom1	A	G	5: 44,029,604		probably benign	Het
Prss1	C	A	6: 41,463,205	Q159K	probably damaging	Het
Psd3	G	T	8: 67,963,869	H459N	probably benign	Het
Rusc2	T	G	4: 43,425,351	V1152G	possibly damaging	Het
Slc22a22	A	G	15: 57,247,448	V461A	probably benign	Het
Slc35e4	C	T	11: 3,912,640	R183Q	probably benign	Het
Spen	T	C	4: 141,477,579	T1246A	unknown	Het
Syt16	T	C	12: 74,266,842	V514A	probably benign	Het
Tdpoz2	A	G	3: 93,652,428	V79A	possibly damaging	Het
Ttn	A	G	2: 76,709,619	V34341A	probably benign	Het
Wwox	T	C	8: 114,712,142	V316A	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
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
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

Posted On

2015-04-16