Mutagenetix > Incidental Mutations

Incidental Mutation 'R5804:Slc16a4'

448393

Institutional Source

Beutler Lab

Gene Symbol

Slc16a4

Ensembl Gene

ENSMUSG00000027896

Gene Name

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

Synonyms

MMRRC Submission

043211-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5804 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107298964 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 117 (M117L)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: M117L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: M117L

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: M117L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: M117L

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

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006E09Rik	A	G	11: 101,990,814	N112S	probably damaging	Het
Abat	A	T	16: 8,578,236	R19*	probably null	Het
Abcb9	A	G	5: 124,080,055	M406T	probably benign	Het
Ager	A	G	17: 34,598,183	E32G	probably damaging	Het
Cdk10	T	A	8: 123,228,840		probably null	Het
Ctsl	A	T	13: 64,366,488	Y259N	probably damaging	Het
Ctu2	T	C	8: 122,481,226		probably null	Het
Dse	T	A	10: 34,153,379	I572F	possibly damaging	Het
Flt1	A	T	5: 147,580,437		probably null	Het
Gatm	T	A	2: 122,602,602	Y193F	probably benign	Het
Gpaa1	T	C	15: 76,332,626	F170S	probably damaging	Het
Grm3	A	G	5: 9,570,155	L363P	probably benign	Het
Heatr5b	G	A	17: 78,831,522	P64S	probably damaging	Het
Hfm1	A	G	5: 106,878,589		probably null	Het
Hivep2	A	C	10: 14,133,775	K1725N	probably benign	Het
Hmcn1	A	T	1: 150,674,347	C2695*	probably null	Het
Hmgcr	G	A	13: 96,666,187	T68M	probably damaging	Het
Igsf21	A	T	4: 140,028,074	D423E	possibly damaging	Het
Jag1	T	C	2: 137,088,204	N751S	probably benign	Het
Klrc2	A	T	6: 129,660,473	N28K	possibly damaging	Het
Lrrc8c	A	T	5: 105,579,557	D29V	possibly damaging	Het
Mtcl1	A	C	17: 66,343,137	S1329A	probably benign	Het
Nin	C	T	12: 70,045,601	V645I	possibly damaging	Het
Olfr1006	T	A	2: 85,674,338	D271V	probably damaging	Het
Olfr1262	T	C	2: 90,002,988	I194T	possibly damaging	Het
Olfr283	T	A	15: 98,378,334	M259L	probably benign	Het
Olfr640	T	C	7: 104,022,232	I29V	probably benign	Het
Pfpl	A	T	19: 12,429,663	H426L	probably benign	Het
Poteg	A	G	8: 27,456,798	D238G	probably damaging	Het
Psen1	T	C	12: 83,731,700	F386L	probably damaging	Het
Rassf9	A	T	10: 102,545,044	I96F	probably damaging	Het
Robo1	T	C	16: 73,043,189		probably null	Het
Slc4a8	A	G	15: 100,791,625	N372S	possibly damaging	Het
Stmn4	G	A	14: 66,356,299	G47D	probably benign	Het
Tex26	A	G	5: 149,463,147	N137S	possibly damaging	Het
Ttn	T	A	2: 76,916,819	I4629F	probably benign	Het
Ubash3a	G	A	17: 31,208,232		probably null	Het
Ube2cbp	T	C	9: 86,425,348	I233V	probably benign	Het
Utrn	T	A	10: 12,421,625	T680S	probably damaging	Het
Vps13d	G	A	4: 145,100,070	T2846I	probably benign	Het
Zbtb22	TGGACCCGGGAC	TGGACCCGGGACCCGGGAC	17: 33,918,619		probably null	Het
Zfp41	C	T	15: 75,618,708	P170S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGATGTCTGAGGATATTAACTTAGC -3'
(R):5'- GCAATTGCTGTAGAAAGGCCC -3'

Sequencing Primer
(F):5'- GAGGATATTAACTTAGCACTTTCCC -3'
(R):5'- CAGGACAGTTTCCTGTTAC -3'

Posted On

2016-12-15