Mutagenetix > Incidental Mutations

Incidental Mutation 'R7383:Slc16a14'

572841

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

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R7383 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84905898-84935134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 84912571 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 338 (H338Y)

Ref Sequence

ENSEMBL: ENSMUSP00000027422 (fasta)

Gene Model

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

AlphaFold

Q8K1C7

Predicted Effect

probably damaging
Transcript: ENSMUST00000027422
AA Change: H338Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: H338Y

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	A	11: 5,868,548	I511N	probably damaging	Het
Ap5m1	T	G	14: 49,074,196	V241G	possibly damaging	Het
BC049715	T	A	6: 136,840,455	I231N	probably damaging	Het
Bckdhb	T	G	9: 83,953,713	V90G	possibly damaging	Het
Chd8	T	C	14: 52,215,319	I1248V	probably damaging	Het
Ckap2l	A	T	2: 129,269,252	M675K	possibly damaging	Het
Ckap4	A	T	10: 84,528,284	V305E	probably damaging	Het
Clasrp	C	A	7: 19,585,273	R489L	unknown	Het
Col24a1	A	G	3: 145,298,838	I26V	probably benign	Het
Cort	C	T	4: 149,125,404	A64T	possibly damaging	Het
Dmkn	T	A	7: 30,765,368	N255K	unknown	Het
Dph2	A	T	4: 117,891,369	L69Q	probably damaging	Het
Fam129c	A	C	8: 71,603,826	E390A	possibly damaging	Het
Fbxo11	A	G	17: 88,002,854	I432T		Het
Fgd3	T	C	13: 49,268,309	K531R	possibly damaging	Het
Fgd5	A	G	6: 91,987,118	K111E	probably benign	Het
Fopnl	TTGTG	TTG	16: 14,300,145		probably null	Het
Gdf6	T	A	4: 9,859,537	D206E	probably benign	Het
Gtpbp1	T	A	15: 79,716,153	L429Q	probably damaging	Het
Hk2	A	G	6: 82,749,295	F90S	probably damaging	Het
Hrnr	A	T	3: 93,331,791	Q3112L	unknown	Het
Hsd17b4	A	C	18: 50,164,850	K402T	probably benign	Het
Htr1f	T	C	16: 64,926,843	T29A	probably benign	Het
Ikbkb	C	A	8: 22,669,050	A471S	probably benign	Het
Inpp5f	A	G	7: 128,694,586	D887G	probably damaging	Het
Ipo9	A	G	1: 135,388,673	L805P	probably damaging	Het
Jmjd1c	A	T	10: 67,189,758	N118I	probably benign	Het
Kif26b	T	G	1: 178,530,710	C129G	probably damaging	Het
Mga	G	A	2: 119,960,340	A2236T	probably damaging	Het
Micu2	T	C	14: 57,917,353	Q405R	possibly damaging	Het
Myo1e	T	A	9: 70,297,295	V59D	probably damaging	Het
Nav3	A	G	10: 109,716,671	I1770T	probably damaging	Het
Ndufa10	A	T	1: 92,464,461	I190N	probably damaging	Het
Npat	T	A	9: 53,562,778	H623Q	probably benign	Het
Npc1l1	T	C	11: 6,217,777	T1005A	probably benign	Het
Olfr1086	A	G	2: 86,676,919	V138A	possibly damaging	Het
Olfr1124	A	G	2: 87,435,377	S297G	possibly damaging	Het
Olfr124	A	G	17: 37,806,081	K312R	probably benign	Het
Olfr281	C	G	15: 98,456,697	P129R	probably damaging	Het
Olfr292	A	T	7: 86,694,752	I99F	probably damaging	Het
Olfr322	T	C	11: 58,666,185	S209P	possibly damaging	Het
Olfr381	A	G	11: 73,485,889	*312Q	probably null	Het
Pafah1b2	C	T	9: 45,968,849	G177R	probably benign	Het
Phc1	A	G	6: 122,323,358	S521P	unknown	Het
Plpp2	A	T	10: 79,531,007	L25Q	probably null	Het
Plxna4	A	G	6: 32,152,799		probably null	Het
Ppl	G	T	16: 5,097,971	P576Q	probably damaging	Het
Rab38	T	C	7: 88,430,429	Y10H	possibly damaging	Het
Rbfox1	G	A	16: 7,070,035	G13S	probably benign	Het
Rhot1	C	G	11: 80,223,934	P56R	probably damaging	Het
Sipa1l2	A	G	8: 125,447,646	W1298R	probably damaging	Het
Slc8a3	T	G	12: 81,315,805	Y80S	probably damaging	Het
Slco6c1	A	T	1: 97,075,883	Y513*	probably null	Het
Smarcd2	A	G	11: 106,264,776	C405R	probably damaging	Het
Szt2	G	A	4: 118,365,214	R3198*	probably null	Het
Tmeff1	T	A	4: 48,636,841	C180S	probably damaging	Het
Tmem132a	A	T	19: 10,866,994	M80K	probably benign	Het
Tnfsf12	A	G	11: 69,687,066	V175A	probably damaging	Het
Tnpo2	G	A	8: 85,050,119	R485H	probably damaging	Het
Togaram2	A	T	17: 71,700,517	I354F	probably damaging	Het
Uchl5	T	A	1: 143,784,015	S42R	probably benign	Het
Virma	C	A	4: 11,514,026	L627I	probably damaging	Het
Vmn2r12	A	T	5: 109,092,818	I143K	probably benign	Het
Vmn2r95	T	G	17: 18,440,472	V382G	probably benign	Het
Wipf3	G	T	6: 54,485,278	A158S	probably benign	Het
Ylpm1	T	G	12: 85,044,468	S1809A	possibly damaging	Het
Zdhhc5	A	T	2: 84,694,404	C191S	probably benign	Het
Zer1	G	A	2: 30,111,241	R84C	probably damaging	Het
Zfhx2	A	T	14: 55,068,253	V991D	probably benign	Het
Zscan4b	C	A	7: 10,904,033	M61I	possibly damaging	Het
Zswim2	A	T	2: 83,915,328	S589T	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
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
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'- TAGGTGTGCATCAGAGGCAG -3'
(R):5'- CCATCCGAGGAAGAATGTGTG -3'

Sequencing Primer
(F):5'- ATGCTGAGGACGAGGGTG -3'
(R):5'- AGGAAGAATGTGTGTGCCTTCC -3'

Posted On

2019-09-13