Mutagenetix > Incidental Mutations

Incidental Mutation 'R6626:Slc16a4'

524793

Institutional Source

Beutler Lab

Gene Symbol

Slc16a4

Ensembl Gene

ENSMUSG00000027896

Gene Name

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

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107301196 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 341 (A341T)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029502
AA Change: A341T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: A341T

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

possibly damaging
Transcript: ENSMUST00000106723
AA Change: A341T

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: A341T

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930556J24Rik	T	C	11: 3,938,056	H110R	unknown	Het
4932415D10Rik	A	G	10: 82,292,833	F1448L	probably benign	Het
Adgrv1	T	A	13: 81,518,126	D1937V	probably damaging	Het
Ank1	T	A	8: 22,975,191	L19H	probably damaging	Het
Bcl9	C	T	3: 97,215,396	R29H	probably benign	Het
Boc	A	T	16: 44,520,440	I49N	possibly damaging	Het
C8a	T	C	4: 104,845,967	I298V	probably benign	Het
Cacna1s	T	C	1: 136,094,965	S879P	probably damaging	Het
Cacna2d3	T	C	14: 29,064,186		probably benign	Het
Dnm1	A	G	2: 32,340,880	I63T	probably damaging	Het
Flnb	C	T	14: 7,929,012	R1914C	probably damaging	Het
Gm9493	A	T	19: 23,619,845	K35M	possibly damaging	Het
Gpld1	T	C	13: 24,979,970	S552P	probably damaging	Het
Hacd1	T	A	2: 14,026,944	I243F	probably benign	Het
Klhdc4	A	G	8: 121,820,162	V110A	probably benign	Het
Krt26	C	T	11: 99,329,702	V441M	probably benign	Het
Muc6	G	A	7: 141,639,559		probably benign	Het
Nav2	A	G	7: 49,594,352	Y2109C	probably damaging	Het
Ncbp3	T	A	11: 73,073,384	S387T	possibly damaging	Het
Notch2	T	G	3: 98,101,605	V513G	probably damaging	Het
Nt5c1b	A	T	12: 10,374,837	R128*	probably null	Het
Olfr1055	C	T	2: 86,347,020	V249I	possibly damaging	Het
Olfr146	A	G	9: 39,019,106	V145A	possibly damaging	Het
Olfr449	A	G	6: 42,838,648	M256V	probably benign	Het
Olig2	T	C	16: 91,227,156	S253P	unknown	Het
Phkb	T	A	8: 85,922,151	F199I	probably damaging	Het
Rnf17	A	G	14: 56,427,924	T178A	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Homo
Sfxn2	A	T	19: 46,582,528	N9I	possibly damaging	Het
Tank	T	A	2: 61,650,296		probably benign	Het
Tnr	A	T	1: 159,850,252	Y69F	probably damaging	Het
Trp53bp1	T	C	2: 121,207,803	D1518G	probably damaging	Het
Txndc16	T	C	14: 45,161,335		probably null	Het
Ugp2	A	G	11: 21,331,028	Y227H	probably damaging	Het
Vps50	G	A	6: 3,551,101	W388*	probably null	Het
Zfp516	T	A	18: 82,988,107	D1045E	probably damaging	Het
Zscan10	C	T	17: 23,605,857	P96S	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
R5804:Slc16a4	UTSW	3	107298964	missense	probably benign	0.04
R6077:Slc16a4	UTSW	3	107301065	missense	possibly damaging	0.91
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'- ATAGGCCTCACAGGAACAGG -3'
(R):5'- ATAGCAGTTGCCAAATCTGCTG -3'

Sequencing Primer
(F):5'- ACAGGCCGTTACTTATGAGC -3'
(R):5'- TCTGCTGAGAAATACACACTACTCTG -3'

Posted On

2018-06-22