Mutagenetix > Incidental Mutations

Incidental Mutation 'R2293:Slc16a14'

245064

Institutional Source

Beutler Lab

Gene Symbol

Slc16a14

Ensembl Gene

ENSMUSG00000026220

Gene Name

solute carrier family 16 (monocarboxylic acid transporters), member 14

Synonyms

1110004H10Rik

MMRRC Submission

040292-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R2293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84905898-84935134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 84912843 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 247 (M247K)

Ref Sequence

ENSEMBL: ENSMUSP00000027422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027422]

AlphaFold

Q8K1C7

Predicted Effect

probably benign
Transcript: ENSMUST00000027422
AA Change: M247K

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

SMART Domains

Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: M247K

Domain	Start	End	E-Value	Type
Pfam:MFS_1	42	427	6.7e-42	PFAM
Pfam:MFS_1	419	509	7.9e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano9	T	C	7: 141,102,515	N640S	probably benign	Het
Aox4	T	A	1: 58,221,937	I143N	probably damaging	Het
Arhgef11	C	T	3: 87,727,990	R869C	probably damaging	Het
Bcl6	T	C	16: 23,977,609	N23D	probably damaging	Het
Brca2	T	A	5: 150,560,534	F2939L	possibly damaging	Het
Bsn	C	T	9: 108,113,067	A1829T	possibly damaging	Het
Cyp2j6	T	A	4: 96,529,433	T318S	possibly damaging	Het
Dlg5	A	C	14: 24,158,112	S1009A	probably benign	Het
Dlx6	A	G	6: 6,867,246	Y283C	probably damaging	Het
Dnah10	T	C	5: 124,819,221	Y3550H	probably damaging	Het
Dock7	T	C	4: 98,966,369	S1553G	probably damaging	Het
Ice1	C	A	13: 70,614,957	D193Y	probably damaging	Het
Mdga2	A	T	12: 66,568,985	L547*	probably null	Het
Mgat4a	C	A	1: 37,452,592	R215L	probably damaging	Het
Msantd2	A	G	9: 37,489,804	T69A	probably damaging	Het
Muc5ac	A	G	7: 141,807,199	T1416A	probably damaging	Het
Nup214	T	C	2: 32,026,875	S1181P	probably benign	Het
Pip5k1c	A	G	10: 81,314,084	E42G	possibly damaging	Het
Slc12a5	A	G	2: 164,992,330	E757G	probably benign	Het
Slc35b2	T	A	17: 45,567,141	V398E	probably damaging	Het
Slc44a5	C	A	3: 154,240,297	L156I	probably benign	Het
Trmt11	G	C	10: 30,547,748	P387R	probably damaging	Het

Other mutations in Slc16a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slc16a14	APN	1	84922871	missense	probably damaging	0.99
IGL01563:Slc16a14	APN	1	84912187	splice site	probably benign
R0315:Slc16a14	UTSW	1	84912496	missense	possibly damaging	0.46
R0380:Slc16a14	UTSW	1	84929530	missense	possibly damaging	0.72
R1469:Slc16a14	UTSW	1	84929461	missense	probably damaging	1.00
R1469:Slc16a14	UTSW	1	84929461	missense	probably damaging	1.00
R1837:Slc16a14	UTSW	1	84912399	missense	probably benign	0.02
R2149:Slc16a14	UTSW	1	84907399	missense	probably damaging	1.00
R3790:Slc16a14	UTSW	1	84929280	unclassified	probably benign
R4016:Slc16a14	UTSW	1	84912507	nonsense	probably null
R4596:Slc16a14	UTSW	1	84929357	missense	probably damaging	1.00
R4637:Slc16a14	UTSW	1	84907282	missense	possibly damaging	0.86
R4723:Slc16a14	UTSW	1	84913020	missense	probably damaging	1.00
R5137:Slc16a14	UTSW	1	84912597	missense	probably damaging	1.00
R5262:Slc16a14	UTSW	1	84912891	missense	probably benign	0.00
R5410:Slc16a14	UTSW	1	84907424	missense	probably damaging	0.98
R5927:Slc16a14	UTSW	1	84912267	missense	possibly damaging	0.91
R5968:Slc16a14	UTSW	1	84912505	missense	possibly damaging	0.70
R6052:Slc16a14	UTSW	1	84912709	missense	possibly damaging	0.75
R6264:Slc16a14	UTSW	1	84907409	missense	probably benign	0.30
R6290:Slc16a14	UTSW	1	84907385	missense	probably benign	0.10
R7383:Slc16a14	UTSW	1	84912571	missense	probably damaging	1.00
R7390:Slc16a14	UTSW	1	84929466	missense	probably benign	0.25
R7535:Slc16a14	UTSW	1	84913122	missense	probably damaging	1.00
R8326:Slc16a14	UTSW	1	84912345	missense	possibly damaging	0.94
R8669:Slc16a14	UTSW	1	84922884	missense	probably benign	0.00
R8784:Slc16a14	UTSW	1	84913063	missense	probably benign	0.01
R9409:Slc16a14	UTSW	1	84929395	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCCGTCCCAAAATAGCCTG -3'
(R):5'- GACCGTGTTGCTGAAATACC -3'

Sequencing Primer
(F):5'- TGAGTGCCAGTCCCTAAAGC -3'
(R):5'- TACCTGTGCGCAGAATATGGC -3'

Posted On

2014-10-30