Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02873:Slc16a4'

362600

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 #

IGL02873

Quality Score

Status

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107300795 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 207 (D207G)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: D207G

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

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: D207G

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: D207G

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

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: D207G

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	C	6: 149,327,040	L528P	probably damaging	Het
4933405O20Rik	A	T	7: 50,599,683	H155L	probably damaging	Het
5830462I19Rik	G	A	9: 110,374,378		probably benign	Het
Ankib1	T	A	5: 3,772,619	Q29L	probably damaging	Het
Arid5b	A	T	10: 68,101,950	M449K	probably benign	Het
Atp1a1	A	G	3: 101,576,578	V1017A	probably benign	Het
Cfap52	G	T	11: 67,931,782	T421K	probably damaging	Het
Chd8	A	T	14: 52,222,513	I780N	probably damaging	Het
Cubn	T	C	2: 13,294,370	D3164G	probably benign	Het
Cyp4f37	A	T	17: 32,625,168	Q82L	probably benign	Het
Eml6	T	A	11: 29,880,700	D265V	probably benign	Het
Gm14393	T	C	2: 175,061,802	D104G	possibly damaging	Het
Gpat2	T	C	2: 127,431,755	V271A	probably benign	Het
Ifna4	T	C	4: 88,842,186	F109S	probably damaging	Het
Il27ra	T	C	8: 84,031,535	S529G	probably benign	Het
Jag2	A	G	12: 112,910,502	L1011P	probably benign	Het
Kif7	A	G	7: 79,706,759	L728P	probably damaging	Het
Klhl21	T	C	4: 152,015,360	V509A	probably benign	Het
Map2k4	T	A	11: 65,719,574	N92I	probably damaging	Het
Myo15	A	T	11: 60,483,482	D1288V	probably damaging	Het
Olfr1002	C	A	2: 85,647,752	A190S	possibly damaging	Het
Olfr1281	T	C	2: 111,328,872	V151A	probably benign	Het
Paip1	T	A	13: 119,445,812	F275L	possibly damaging	Het
Plxnd1	T	C	6: 115,959,976	D1624G	probably damaging	Het
Ppwd1	C	A	13: 104,209,753	D465Y	probably damaging	Het
Rftn1	A	C	17: 50,169,152		probably benign	Het
Scn1b	T	A	7: 31,117,757	Y180F	probably damaging	Het
Slc2a3	T	C	6: 122,740,414	T28A	probably damaging	Het
Slc47a1	G	A	11: 61,362,817		probably benign	Het
Spata1	A	T	3: 146,487,367	V123D	possibly damaging	Het
Stard9	T	C	2: 120,713,807	V4469A	probably damaging	Het
Trmu	T	A	15: 85,896,832		probably null	Het
Trrap	T	A	5: 144,841,079		probably benign	Het
Ttn	T	C	2: 76,896,131		probably benign	Het
Tubgcp6	T	C	15: 89,103,824	D974G	probably benign	Het
Tyw1	C	T	5: 130,335,330	R621C	probably benign	Het
Usp7	A	T	16: 8,695,194		probably benign	Het
Zfp39	T	C	11: 58,891,022	K305E	probably benign	Het
Zfp692	C	T	11: 58,308,939	T118M	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
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
R8014:Slc16a4	UTSW	3	107311478
X0018:Slc16a4	UTSW	3	107300815	missense	probably benign	0.01

Posted On

2015-12-18