Mutagenetix > Incidental Mutations

Incidental Mutation 'R6982:Slc16a4'

542715

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 #

R6982 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107291230-107312115 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107299273 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 173 (D173G)

Ref Sequence

ENSEMBL: ENSMUSP00000029502 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000029502
AA Change: D173G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029502
Gene: ENSMUSG00000027896
AA Change: D173G

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: D173G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000102334
Gene: ENSMUSG00000027896
AA Change: D173G

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: 99.2%
20x: 96.7%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931417E11Rik	A	T	6: 73,469,544	Y7*	probably null	Het
Adamts16	T	A	13: 70,768,520		probably null	Het
Adamtsl3	C	A	7: 82,515,063	P362H	probably damaging	Het
Ambra1	G	A	2: 91,917,473	V1065I	probably damaging	Het
Ankrd66	T	C	17: 43,539,035	T79A	probably damaging	Het
Ano2	G	A	6: 125,992,893	R724H	probably benign	Het
Bmp8a	A	G	4: 123,325,141	L158P	probably damaging	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cilp	T	C	9: 65,279,805	Y1061H	probably damaging	Het
Clybl	G	A	14: 122,401,947	G308R	probably damaging	Het
Cntnap5c	C	T	17: 58,092,252	P367S	possibly damaging	Het
Col20a1	T	C	2: 180,996,706	V371A	probably benign	Het
Col24a1	G	T	3: 145,315,046	G393*	probably null	Het
Dnah12	A	G	14: 26,799,076		probably null	Het
Dnah8	T	A	17: 30,767,925	S3183T	probably benign	Het
Dph2	A	T	4: 117,889,796	I435N	probably benign	Het
Fam3c	G	T	6: 22,322,301	A107D	probably damaging	Het
Fezf2	G	T	14: 12,343,645	Q367K	probably damaging	Het
Gbp2	A	G	3: 142,630,085	D182G	probably damaging	Het
Gpr162	T	A	6: 124,860,956	I244F	probably damaging	Het
Jakmip1	A	T	5: 37,124,941	N159I	probably damaging	Het
Kdm4a	A	T	4: 118,153,439		probably null	Het
Klf5	A	G	14: 99,313,235	H416R	probably damaging	Het
Lrrc63	A	G	14: 75,084,771	V631A	probably benign	Het
Man1a	T	C	10: 54,074,723	E101G	possibly damaging	Het
Msantd4	T	A	9: 4,384,061	N127K	possibly damaging	Het
Myo3b	A	T	2: 70,426,065	E1248D	probably benign	Het
Ncapd2	A	T	6: 125,176,736	I672N	probably damaging	Het
Nfic	T	C	10: 81,420,800		probably null	Het
Nr1h3	A	G	2: 91,190,759	S228P	probably damaging	Het
Olfr951	T	C	9: 39,394,322	I174T	probably damaging	Het
Pccb	A	T	9: 101,023,296		probably null	Het
Pcmtd1	T	G	1: 7,147,682	V118G	probably damaging	Het
Pkhd1l1	A	T	15: 44,566,268	N3294I	probably damaging	Het
Plscr4	A	G	9: 92,482,743	T74A	probably benign	Het
Rasa2	A	T	9: 96,560,750	I540N	probably damaging	Het
Serpina3j	C	A	12: 104,317,297	T218K	probably benign	Het
Slc19a2	T	C	1: 164,256,859	L106P	possibly damaging	Het
Slc22a19	C	T	19: 7,682,969	V359M	probably benign	Het
Slc22a7	T	A	17: 46,434,637	M323L	probably benign	Het
Spata21	A	T	4: 141,096,873	N149I	possibly damaging	Het
Spink5	G	A	18: 43,977,725	G121D	probably damaging	Het
Spink5	T	C	18: 44,010,042		probably null	Het
Ssbp4	T	C	8: 70,608,165	S6G	possibly damaging	Het
Sytl2	T	C	7: 90,396,564	S641P	probably damaging	Het
Tcf3	A	T	10: 80,417,550	F215I	probably damaging	Het
Tmem150c	C	A	5: 100,092,821	D61Y	probably benign	Het
Ttc7	T	A	17: 87,307,009	F201I	probably damaging	Het
Tyw3	T	C	3: 154,580,230	I208V	probably benign	Het
Vmn1r202	T	C	13: 22,501,747	T167A	probably benign	Het
Vmn1r83	A	T	7: 12,321,836	L98Q	probably damaging	Het
Vmn2r95	T	C	17: 18,452,061	Y687H	probably damaging	Het
Wdr59	A	T	8: 111,460,813	F783L	probably benign	Het
Zfhx4	A	G	3: 5,403,830	Y3016C	probably damaging	Het
Zfp518b	T	C	5: 38,672,905	T586A	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
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'- CTGCTACCTGGTGAGTTCAC -3'
(R):5'- TCCCAGCGTTGTCATGAGTTC -3'

Sequencing Primer
(F):5'- GTTCACACTCAATAGTCCATAAAGG -3'
(R):5'- CCAGCGTTGTCATGAGTTCTAGAC -3'

Posted On

2018-11-28