Mutagenetix > Incidental Mutations

Incidental Mutation 'R0370:Slc16a4'

30415

Institutional Source

Beutler Lab

Gene Symbol

Slc16a4

Ensembl Gene

ENSMUSG00000027896

Gene Name

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

Synonyms

MMRRC Submission

038576-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107301097 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 308 (I308V)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029502
AA Change: I308V

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: I308V

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: I308V

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: I308V

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: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	T	C	8: 123,501,554	S666P	probably damaging	Het
B3gntl1	A	T	11: 121,624,154	W263R	probably damaging	Het
Carmil3	A	G	14: 55,495,442	N270S	possibly damaging	Het
Ctdp1	T	C	18: 80,449,354	E642G	probably damaging	Het
Cyp2b9	A	T	7: 26,210,106	K433M	probably damaging	Het
Dcc	A	G	18: 71,587,985	V435A	possibly damaging	Het
Defa26	A	T	8: 21,618,859	M87L	probably benign	Het
Dnah11	T	A	12: 117,995,227	I2974L	probably benign	Het
Dnah3	T	C	7: 120,086,720	D131G	possibly damaging	Het
Dock6	A	T	9: 21,814,565	S1447R	probably benign	Het
Dtl	G	T	1: 191,575,350	N17K	probably benign	Het
Grid2	A	G	6: 64,345,734	I573V	possibly damaging	Het
Hoxa9	T	C	6: 52,225,704	E134G	possibly damaging	Het
Kcnn3	A	T	3: 89,667,092	N637I	probably damaging	Het
Ktn1	T	C	14: 47,664,075	F97L	probably benign	Het
Lmbrd2	T	C	15: 9,165,852	I271T	probably damaging	Het
Lrp6	A	C	6: 134,479,766	I845S	probably damaging	Het
Med13l	T	A	5: 118,741,826	N994K	probably benign	Het
Mrrf	A	T	2: 36,177,113		probably null	Het
Mtmr1	G	A	X: 71,388,231	V125I	probably damaging	Het
Nol8	C	T	13: 49,662,447	A677V	possibly damaging	Het
Olfr1047	A	T	2: 86,228,713	V86D	probably damaging	Het
Olfr309	T	A	7: 86,306,849	N88I	probably benign	Het
Olfr639	T	G	7: 104,012,059	L214F	probably damaging	Het
Paxip1	C	A	5: 27,760,086	V659F	probably damaging	Het
Pclo	T	C	5: 14,521,090	V163A	probably damaging	Het
Pkn3	T	A	2: 30,087,172	H641Q	probably damaging	Het
Plekhg6	G	A	6: 125,370,660	R444C	probably damaging	Het
Rfx2	T	C	17: 56,799,308	E175G	probably benign	Het
Samd9l	A	C	6: 3,377,264		probably benign	Het
Sec14l5	A	T	16: 5,180,706	T537S	probably damaging	Het
Serpinb9d	A	G	13: 33,195,966	E96G	probably damaging	Het
Setd4	T	C	16: 93,591,118	E160G	probably damaging	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Slco2b1	T	A	7: 99,690,437	N100Y	probably damaging	Het
Sptbn1	A	T	11: 30,121,545	S1475R	probably benign	Het
Tecta	T	C	9: 42,366,804	D1136G	probably benign	Het
Tmem94	G	C	11: 115,788,717	R273S	probably damaging	Het
Tns3	A	G	11: 8,445,730	S1225P	possibly damaging	Het
Ugt2b36	A	G	5: 87,091,975	Y184H	probably benign	Het
Vmn2r59	A	T	7: 42,012,726	M555K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGCAAGGAGACACAGGAGCCTTTC -3'
(R):5'- AGGTGAGTTAGGGTCCGCTAGAAC -3'

Sequencing Primer
(F):5'- GGAGCCTTTCATCAAAGACAG -3'
(R):5'- CAGTTGCCAAATCTGCTGAG -3'

Posted On

2013-04-24