Mutagenetix > Incidental Mutations

Incidental Mutation 'R4637:Slc16a14'

350749

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

042010-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4637 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84905898-84935134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84907282 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 512 (V512A)

Ref Sequence

ENSEMBL: ENSMUSP00000027422 (fasta)

Gene Model

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

AlphaFold

Q8K1C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027422
AA Change: V512A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: V512A

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

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (27/28)

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	G	A	5: 31,488,091	R396Q	probably benign	Het
Art1	T	A	7: 102,106,337	V12E	probably damaging	Het
Ccdc180	A	G	4: 45,914,443	S653G	probably benign	Het
Clic6	T	C	16: 92,497,061		probably benign	Het
Fras1	T	A	5: 96,778,088	L3717Q	probably damaging	Het
Gpat3	C	T	5: 100,857,173	P58L	probably benign	Het
Gtf2f1	G	T	17: 57,004,534	P292H	probably benign	Het
Hcn1	A	T	13: 117,975,713	T738S	unknown	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmbs	A	G	9: 44,339,537	S130P	probably damaging	Het
Kif1b	A	T	4: 149,199,311	I1299N	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Muc3	A	T	5: 137,146,654	L56Q	probably damaging	Het
Myd88	G	A	9: 119,338,109		probably null	Het
Nol6	G	A	4: 41,121,788	R249W	probably damaging	Het
Olfr1284	C	T	2: 111,379,582	T194I	probably benign	Het
Pcdhb1	T	C	18: 37,265,749	V251A	possibly damaging	Het
Prkcd	A	G	14: 30,598,765	S633P	probably benign	Het
Rarb	T	C	14: 16,574,875	H47R	possibly damaging	Het
Slc34a3	C	T	2: 25,229,461	V466M	possibly damaging	Het
Stat3	A	G	11: 100,893,230	S623P	probably damaging	Het
Vmn2r16	T	G	5: 109,330,414	S12A	probably benign	Het
Zfhx4	C	G	3: 5,403,404	P2874R	probably damaging	Het
Zfp3	T	C	11: 70,771,355	S47P	probably benign	Het
Zfp791	T	C	8: 85,109,885	E450G	possibly 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
R2293:Slc16a14	UTSW	1	84912843	missense	probably benign
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
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'- CAGTTCTAATCACGTCTGCCAC -3'
(R):5'- ATCAACTCTGGGTTCCACCG -3'

Sequencing Primer
(F):5'- TCTGCCACCTCTGCAGAGAG -3'
(R):5'- GTAGGGATACTCTTTTTGCTC -3'

Posted On

2015-10-08