Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02792:Slc16a4'

359783

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 #

IGL02792

Quality Score

Status

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107298877 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 88 (A88T)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: A88T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: A88T

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: A88T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: A88T

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	A	17: 48,090,587	V131M	probably benign	Het
Abca6	A	T	11: 110,188,681	C1216S	probably damaging	Het
Acly	T	C	11: 100,478,410	K1018E	probably damaging	Het
Acsl5	G	A	19: 55,293,731		probably null	Het
Adgrb1	C	A	15: 74,547,622	L771I	probably damaging	Het
Adh7	A	T	3: 138,223,737	K89I	probably damaging	Het
Adora2b	A	T	11: 62,265,483	I253F	possibly damaging	Het
Akna	G	A	4: 63,377,706	P975S	possibly damaging	Het
Alg9	T	C	9: 50,842,748	L576P	possibly damaging	Het
Arhgap20	A	G	9: 51,849,918	E1023G	possibly damaging	Het
Astn2	A	T	4: 65,644,821	S908T	probably benign	Het
Atp1a4	C	T	1: 172,227,299		probably null	Het
Cabin1	T	C	10: 75,746,739	Y281C	probably damaging	Het
Cdc42bpb	G	T	12: 111,299,561	F1312L	probably benign	Het
Cfap65	A	C	1: 74,927,178	F330C	probably damaging	Het
Col27a1	C	T	4: 63,315,583	P689S	unknown	Het
Col4a3	A	T	1: 82,718,803	K1643N	probably damaging	Het
Dopey2	T	A	16: 93,801,572	V1875D	possibly damaging	Het
Eftud2	A	G	11: 102,870,256		probably benign	Het
Ergic3	C	A	2: 156,017,850	T357K	probably damaging	Het
Glra1	A	T	11: 55,536,400	D36E	probably damaging	Het
Gpatch1	A	G	7: 35,301,593	Y330H	probably damaging	Het
Hmcn2	T	C	2: 31,346,590	S382P	probably damaging	Het
Kat6a	G	A	8: 22,938,300	E1224K	probably damaging	Het
Klk13	A	G	7: 43,721,414	E29G	possibly damaging	Het
Klra9	T	C	6: 130,188,680	D124G	probably benign	Het
Lrmda	T	C	14: 22,019,910		probably null	Het
Ltbp1	G	A	17: 75,282,994	V539M	probably damaging	Het
Ngfr	A	C	11: 95,571,861	L317R	probably damaging	Het
Nlrp6	C	A	7: 140,922,435	H151Q	probably damaging	Het
Nnt	A	G	13: 119,357,646	L633P	probably damaging	Het
Nxpe3	C	T	16: 55,866,172	V158M	probably damaging	Het
Olfr266	T	C	3: 106,822,140	T140A	probably damaging	Het
Olfr716	T	C	7: 107,148,218	F301L	probably benign	Het
Olfr828	C	T	9: 18,815,958	S112N	probably benign	Het
Pla2g4f	T	C	2: 120,303,369	Y517C	probably damaging	Het
Poc1a	A	T	9: 106,295,194	I207F	possibly damaging	Het
Polr2a	A	G	11: 69,746,112	S338P	probably damaging	Het
Ptprz1	T	C	6: 22,959,723	V73A	probably damaging	Het
Relb	A	T	7: 19,613,864	L281Q	probably damaging	Het
Rrp8	A	T	7: 105,733,811	L382*	probably null	Het
Setd1a	C	T	7: 127,791,350	S523F	unknown	Het
Slamf8	A	G	1: 172,588,130	I47T	probably damaging	Het
Sox6	C	T	7: 115,541,649	M532I	probably benign	Het
Tcp11l1	T	A	2: 104,681,820	Y489F	probably benign	Het
Tdrd6	T	G	17: 43,625,027	D1710A	probably benign	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Vangl1	A	T	3: 102,163,423	I399N	probably damaging	Het
Vmn1r201	T	C	13: 22,474,844	L76P	probably damaging	Het
Vmn1r58	T	C	7: 5,411,229	M1V	probably null	Het
Wdfy4	T	C	14: 33,095,305	I1561V	probably benign	Het
Xkr9	A	G	1: 13,700,803	D181G	probably damaging	Het
Zfp318	T	C	17: 46,409,178	F1101L	probably damaging	Het
Zfpm2	C	A	15: 41,103,013	Q833K	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
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
X0018:Slc16a4	UTSW	3	107300815	missense	probably benign	0.01

Posted On

2015-12-18