Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03002:Slc16a4'

407382

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 #

IGL03002

Quality Score

Status

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107300786 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 204 (N204I)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: N204I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: N204I

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: N204I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: N204I

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	T	C	1: 66,836,969	I398V	probably benign	Het
Adcy4	A	T	14: 55,773,556	C635S	probably benign	Het
Asic4	C	A	1: 75,451,323	D164E	possibly damaging	Het
C8g	T	A	2: 25,498,811	*203L	probably null	Het
Cad	T	C	5: 31,054,986	V11A	probably benign	Het
Cckar	T	C	5: 53,702,905	N194S	probably damaging	Het
Cdc123	T	C	2: 5,798,355		probably benign	Het
Chrm5	T	C	2: 112,480,361	T137A	probably damaging	Het
Cyp1a1	A	G	9: 57,702,441		probably benign	Het
Dapk3	G	T	10: 81,190,603	E187*	probably null	Het
Dmtf1	T	C	5: 9,140,474	E80G	probably damaging	Het
Dusp19	T	A	2: 80,630,935	N189K	probably damaging	Het
Gfral	A	G	9: 76,197,238	V164A	possibly damaging	Het
Hk1	A	T	10: 62,271,799	V799E	probably damaging	Het
Iars2	C	T	1: 185,322,816		probably null	Het
Jcad	T	A	18: 4,675,153	Y972N	probably benign	Het
Lrp1	A	T	10: 127,589,636	D708E	probably damaging	Het
Mbtd1	T	A	11: 93,924,490	H301Q	probably benign	Het
Med12	A	G	X: 101,295,855	T2004A	probably benign	Het
Mib1	T	C	18: 10,798,356	I739T	possibly damaging	Het
Mthfsd	C	T	8: 121,108,279		probably benign	Het
Mybpc3	T	G	2: 91,123,889	F369C	probably damaging	Het
Nfatc2	C	T	2: 168,534,984	V329M	probably damaging	Het
Ngef	A	T	1: 87,509,392		probably null	Het
Nlrp1b	T	C	11: 71,168,859	E759G	probably benign	Het
Olfr432	C	A	1: 174,050,625	T84N	probably benign	Het
Prdm4	T	C	10: 85,893,152	E790G	probably benign	Het
Psmd12	A	G	11: 107,485,781	D81G	probably benign	Het
Rnf144b	A	G	13: 47,242,883	H232R	probably damaging	Het
Sec63	C	T	10: 42,810,909	T475M	possibly damaging	Het
Socs1	T	C	16: 10,784,540	N111S	probably damaging	Het
Srpr	A	G	9: 35,214,721	N432D	probably damaging	Het
Srrm2	A	G	17: 23,815,734		probably benign	Het
Svs1	A	G	6: 48,987,118	H20R	probably benign	Het
Tgoln1	A	G	6: 72,616,072	S142P	possibly damaging	Het
Trbv13-1	A	G	6: 41,116,235	N34S	probably benign	Het
Vmn2r26	T	C	6: 124,039,795	V406A	possibly damaging	Het
Vsig1	G	T	X: 140,926,339	G79V	probably 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
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

2016-08-02