Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02294:Slc16a4'

290132

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 #

IGL02294

Quality Score

Status

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107301068 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 298 (I298T)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: I298T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: I298T

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: I298T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: I298T

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk2	A	G	18: 65,306,075	V749A	possibly damaging	Het
Col6a4	T	C	9: 106,066,732	D1181G	probably benign	Het
Crb1	A	G	1: 139,234,782	S1213P	possibly damaging	Het
D430041D05Rik	A	T	2: 104,255,006	M1066K	probably benign	Het
Fasn	G	T	11: 120,810,276	T1999N	probably damaging	Het
Flg2	C	T	3: 93,203,746	A1027V	unknown	Het
Gbp5	T	A	3: 142,503,827	V178E	probably damaging	Het
Hdac4	T	C	1: 91,982,207	D445G	probably benign	Het
Hps3	T	C	3: 20,014,048	E482G	probably damaging	Het
Impdh1	G	A	6: 29,205,202	A200V	probably benign	Het
Kdm2b	T	C	5: 122,961,474	Y134C	probably damaging	Het
Ly6g	T	A	15: 75,158,564	I77N	possibly damaging	Het
Olfr183	T	C	16: 59,000,065	C127R	probably damaging	Het
Olfr203	T	C	16: 59,303,612	L153P	probably damaging	Het
Oprk1	T	G	1: 5,602,387	M249R	probably damaging	Het
Otud4	A	G	8: 79,664,977		probably benign	Het
Sox21	A	G	14: 118,235,538	M33T	probably benign	Het
Speer4a	T	A	5: 26,038,242	T82S	probably benign	Het
Stard13	T	C	5: 151,063,115	D310G	probably benign	Het
Trpm6	C	A	19: 18,854,063	Q1431K	probably benign	Het
Ufl1	T	A	4: 25,259,281	K446*	probably null	Het
Vmn2r19	A	G	6: 123,329,978	T482A	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
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
X0018:Slc16a4	UTSW	3	107300815	missense	probably benign	0.01

Posted On

2015-04-16