Mutagenetix > Incidental Mutation

Incidental Mutation 'R5262:Slc16a14'

401475

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

042857-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R5262 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84883619-84912855 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84890612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 231 (L231P)

Ref Sequence

ENSEMBL: ENSMUSP00000027422 (fasta)

Gene Model

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

AlphaFold

Q8K1C7

Predicted Effect

probably benign
Transcript: ENSMUST00000027422
AA Change: L231P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: L231P

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

0.1955

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago4	T	A	4: 126,390,557 (GRCm39)	D821V	possibly damaging	Het
Ankdd1b	C	A	13: 96,557,281 (GRCm39)	R384L	probably damaging	Het
Ces1e	A	G	8: 93,950,586 (GRCm39)	F65S	probably damaging	Het
Cfap53	A	C	18: 74,462,530 (GRCm39)	S425R	probably benign	Het
Corin	A	G	5: 72,462,298 (GRCm39)	V837A	probably damaging	Het
Cyp2d34	A	T	15: 82,502,572 (GRCm39)	V188E	probably damaging	Het
Defb26	A	T	2: 152,349,878 (GRCm39)	M134K	unknown	Het
Dnah10	A	C	5: 124,862,220 (GRCm39)	K2158N	probably damaging	Het
Dnah9	C	T	11: 66,003,159 (GRCm39)	V882M	probably benign	Het
Dpyd	C	A	3: 118,591,071 (GRCm39)	Y186*	probably null	Het
Elovl1	G	A	4: 118,288,124 (GRCm39)		probably benign	Het
Fars2	T	A	13: 36,526,001 (GRCm39)	I329N	probably damaging	Het
Gstm1	T	A	3: 107,923,679 (GRCm39)	M109L	probably benign	Het
Gtf2e1	T	C	16: 37,356,293 (GRCm39)	T80A	probably damaging	Het
Gtf2h2	A	G	13: 100,618,356 (GRCm39)		probably benign	Het
Hrh4	G	T	18: 13,148,870 (GRCm39)	L77F	probably damaging	Het
Ifi47	A	G	11: 48,986,559 (GRCm39)	T109A	probably benign	Het
Igsf5	G	T	16: 96,192,237 (GRCm39)	E179*	probably null	Het
Ints8	A	G	4: 11,211,916 (GRCm39)	I885T	probably damaging	Het
Iqgap1	T	G	7: 80,376,490 (GRCm39)	I1341L	probably benign	Het
Kmt2b	A	G	7: 30,269,219 (GRCm39)	L2567P	probably damaging	Het
Lilrb4a	T	C	10: 51,369,303 (GRCm39)		probably null	Het
Maip1	G	A	1: 57,446,131 (GRCm39)	R67H	probably damaging	Het
Muc6	T	A	7: 141,237,375 (GRCm39)	I254F	possibly damaging	Het
Nfkb1	A	T	3: 135,318,173 (GRCm39)		probably null	Het
Nlrp4a	T	C	7: 26,159,236 (GRCm39)		probably null	Het
Nrap	A	T	19: 56,308,655 (GRCm39)	I1477N	possibly damaging	Het
Pdgfa	A	G	5: 138,979,049 (GRCm39)	S52P	probably benign	Het
Pou1f1	G	T	16: 65,328,868 (GRCm39)	E196*	probably null	Het
Ppp2r5e	G	A	12: 75,640,045 (GRCm39)	R19W	probably damaging	Het
Ptn	T	A	6: 36,721,419 (GRCm39)	Q7L	probably benign	Het
Rbp3	G	T	14: 33,676,807 (GRCm39)	A252S	probably damaging	Het
Rcor2	G	T	19: 7,251,426 (GRCm39)	V313L	probably damaging	Het
Rtp3	A	T	9: 110,815,195 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,787,323 (GRCm39)	T1017A	probably damaging	Het
Scgb2b11	T	C	7: 31,908,776 (GRCm39)	N108S	probably benign	Het
Sgo2b	C	A	8: 64,396,171 (GRCm39)	L28F	probably damaging	Het
Shroom3	A	G	5: 93,112,432 (GRCm39)	E1850G	probably damaging	Het
Slfn5	A	G	11: 82,847,496 (GRCm39)	E127G	possibly damaging	Het
Snx16	C	T	3: 10,502,892 (GRCm39)	M118I	probably damaging	Het
Snx21	T	C	2: 164,633,741 (GRCm39)	F176L	probably damaging	Het
Tap2	A	G	17: 34,432,990 (GRCm39)	N424S	probably benign	Het
Tcf7l1	T	C	6: 72,613,449 (GRCm39)		probably benign	Het
Trappc8	C	T	18: 20,951,247 (GRCm39)	V1400I	probably benign	Het
Trim58	T	C	11: 58,542,494 (GRCm39)	Y485H	possibly damaging	Het
U2af1l4	C	T	7: 30,263,638 (GRCm39)	T65I	probably benign	Het
Ufl1	G	T	4: 25,251,294 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,593,031 (GRCm39)	N762S	probably damaging	Het
Virma	A	T	4: 11,539,926 (GRCm39)	D1465V	probably benign	Het
Vmn1r48	A	T	6: 90,013,016 (GRCm39)	S270T	probably benign	Het
Vrk2	T	A	11: 26,541,697 (GRCm39)	Y9F	possibly damaging	Het
Wwp1	A	G	4: 19,631,057 (GRCm39)	F659L	probably damaging	Het
Zbtb24	C	T	10: 41,340,556 (GRCm39)	Q529*	probably null	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		probably benign	Het

Other mutations in Slc16a14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Slc16a14	APN	1	84,900,592 (GRCm39)	missense	probably damaging	0.99
IGL01563:Slc16a14	APN	1	84,889,908 (GRCm39)	splice site	probably benign
R0315:Slc16a14	UTSW	1	84,890,217 (GRCm39)	missense	possibly damaging	0.46
R0380:Slc16a14	UTSW	1	84,907,251 (GRCm39)	missense	possibly damaging	0.72
R1469:Slc16a14	UTSW	1	84,907,182 (GRCm39)	missense	probably damaging	1.00
R1469:Slc16a14	UTSW	1	84,907,182 (GRCm39)	missense	probably damaging	1.00
R1837:Slc16a14	UTSW	1	84,890,120 (GRCm39)	missense	probably benign	0.02
R2149:Slc16a14	UTSW	1	84,885,120 (GRCm39)	missense	probably damaging	1.00
R2293:Slc16a14	UTSW	1	84,890,564 (GRCm39)	missense	probably benign
R3790:Slc16a14	UTSW	1	84,907,001 (GRCm39)	unclassified	probably benign
R4016:Slc16a14	UTSW	1	84,890,228 (GRCm39)	nonsense	probably null
R4596:Slc16a14	UTSW	1	84,907,078 (GRCm39)	missense	probably damaging	1.00
R4637:Slc16a14	UTSW	1	84,885,003 (GRCm39)	missense	possibly damaging	0.86
R4723:Slc16a14	UTSW	1	84,890,741 (GRCm39)	missense	probably damaging	1.00
R5137:Slc16a14	UTSW	1	84,890,318 (GRCm39)	missense	probably damaging	1.00
R5410:Slc16a14	UTSW	1	84,885,145 (GRCm39)	missense	probably damaging	0.98
R5927:Slc16a14	UTSW	1	84,889,988 (GRCm39)	missense	possibly damaging	0.91
R5968:Slc16a14	UTSW	1	84,890,226 (GRCm39)	missense	possibly damaging	0.70
R6052:Slc16a14	UTSW	1	84,890,430 (GRCm39)	missense	possibly damaging	0.75
R6264:Slc16a14	UTSW	1	84,885,130 (GRCm39)	missense	probably benign	0.30
R6290:Slc16a14	UTSW	1	84,885,106 (GRCm39)	missense	probably benign	0.10
R7383:Slc16a14	UTSW	1	84,890,292 (GRCm39)	missense	probably damaging	1.00
R7390:Slc16a14	UTSW	1	84,907,187 (GRCm39)	missense	probably benign	0.25
R7535:Slc16a14	UTSW	1	84,890,843 (GRCm39)	missense	probably damaging	1.00
R8326:Slc16a14	UTSW	1	84,890,066 (GRCm39)	missense	possibly damaging	0.94
R8669:Slc16a14	UTSW	1	84,900,605 (GRCm39)	missense	probably benign	0.00
R8784:Slc16a14	UTSW	1	84,890,784 (GRCm39)	missense	probably benign	0.01
R9409:Slc16a14	UTSW	1	84,907,116 (GRCm39)	nonsense	probably null
R9469:Slc16a14	UTSW	1	84,900,612 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGAGTGCCAGTCCCTAAAGC -3'
(R):5'- ATTTGGGACGTTCCTGATGACC -3'

Sequencing Primer
(F):5'- ACTTGCACAGTGAGCTGG -3'
(R):5'- GACCGTGTTGCTGAAATACC -3'

Posted On

2016-07-06