Mutagenetix > Incidental Mutations

Incidental Mutation 'R7050:Slc16a4'

547516

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 #

R7050 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107300832 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 219 (E219D)

Ref Sequence

ENSEMBL: ENSMUSP00000102334 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: E219D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: E219D

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: E219D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: E219D

Domain	Start	End	E-Value	Type
Pfam:MFS_1	27	375	2.1e-28	PFAM
Pfam:MFS_1	327	462	3.6e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,973,718	A346V	possibly damaging	Het
Adcy5	A	T	16: 35,303,700	M1250L	possibly damaging	Het
Arhgef38	T	C	3: 133,133,627		probably benign	Het
Ascc3	T	A	10: 50,840,350	I1944N	probably benign	Het
Cabin1	G	T	10: 75,713,542	P1343Q	probably damaging	Het
Cbr3	A	T	16: 93,690,394	Q155L	possibly damaging	Het
Cd44	A	G	2: 102,814,137	V577A	probably damaging	Het
Coil	C	T	11: 88,981,188	T125I	possibly damaging	Het
Fmo3	T	C	1: 162,963,904	N268S	probably damaging	Het
Fnip2	T	C	3: 79,506,270	T248A	probably damaging	Het
Ggt7	G	A	2: 155,506,375	T43I	probably benign	Het
Gm14025	T	C	2: 129,027,971		probably null	Het
Gm3250	C	A	10: 77,781,980	C188F	possibly damaging	Het
Iqce	G	A	5: 140,666,091	S375F	possibly damaging	Het
Iqgap3	A	G	3: 88,098,913	T544A	probably damaging	Het
Islr	A	G	9: 58,157,717	L169P	probably damaging	Het
Kdr	G	T	5: 75,950,120	T904N	probably damaging	Het
Mink1	A	G	11: 70,612,332	T974A	possibly damaging	Het
Mms19	A	G	19: 41,950,746		probably null	Het
Mycl	T	C	4: 122,997,020		probably null	Het
Nab1	A	T	1: 52,490,735	M1K	probably null	Het
Naip6	C	T	13: 100,315,499	G202R	probably damaging	Het
Nbeal2	G	A	9: 110,628,720	S2159L	probably damaging	Het
Neb	A	T	2: 52,222,876	M4302K	possibly damaging	Het
Npy1r	A	G	8: 66,704,540	D204G	probably benign	Het
Olfr450	T	A	6: 42,817,570	V33D	possibly damaging	Het
Pkdcc	T	A	17: 83,215,644	I60N	possibly damaging	Het
Plcxd3	T	C	15: 4,516,718	V68A	probably damaging	Het
Prss36	G	T	7: 127,944,765	R145S	possibly damaging	Het
Pygl	C	A	12: 70,219,622	G40C	probably damaging	Het
Rev1	A	G	1: 38,054,271	L1064P	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,819,695		probably benign	Het
Serpina3k	T	C	12: 104,341,144	F212L	possibly damaging	Het
Slc6a20b	A	T	9: 123,598,543	W434R	probably damaging	Het
Slco1c1	T	A	6: 141,547,926	F278Y	probably damaging	Het
Tbx21	T	G	11: 97,114,770	D123A	probably benign	Het
Trp73	A	G	4: 154,081,442	F35L	probably damaging	Het
Tspan17	T	C	13: 54,796,063	V135A	probably benign	Het
Uba2	G	A	7: 34,146,262	Q479*	probably null	Het
Ubr2	A	G	17: 46,961,602	V889A	probably benign	Het
Unc80	A	G	1: 66,550,908		probably null	Het
Vmn1r45	A	T	6: 89,933,721	I89N	probably damaging	Het
Vmn2r11	A	G	5: 109,054,791	I140T	probably benign	Het
Yipf2	A	T	9: 21,592,178	D24E	probably benign	Het
Zfp251	T	G	15: 76,854,296	Q199P	possibly damaging	Het
Zfp37	A	T	4: 62,191,671	N385K	possibly damaging	Het
Zfp655	G	A	5: 145,244,735	E468K	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
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
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'- TTTGACTATGGAGATTGGCCTC -3'
(R):5'- CTCATAAGTAACGGCCTGTTCCTG -3'

Sequencing Primer
(F):5'- CCAGCCTATGAATAGACAGTAGCATG -3'
(R):5'- CCTGTGAGGCCTATTGCTGAAC -3'

Posted On

2019-05-13