Mutagenetix > Incidental Mutations

Incidental Mutation 'R5968:Slc16a14'

470683

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

043249-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84905898-84935134 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84912505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 360 (I360V)

Ref Sequence

ENSEMBL: ENSMUSP00000027422 (fasta)

Gene Model

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

AlphaFold

Q8K1C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027422
AA Change: I360V

PolyPhen 2 Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: I360V

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,310,151	T978A	probably benign	Het
Adcy9	A	G	16: 4,298,742	L638P	probably damaging	Het
Adgrf2	A	G	17: 42,715,172		probably null	Het
Anxa6	T	C	11: 54,994,341	I461V	probably damaging	Het
Arap1	T	C	7: 101,394,738	L668P	probably damaging	Het
B020031M17Rik	T	C	13: 119,950,082		probably benign	Het
Ccdc144b	T	C	3: 36,010,691	Q511R	probably benign	Het
Ces2e	G	T	8: 104,932,995	G498W	probably damaging	Het
Crb1	A	G	1: 139,243,001	C823R	probably damaging	Het
Ehmt1	C	T	2: 24,836,457	R772H	probably damaging	Het
Enpep	A	G	3: 129,280,938	L721S	probably benign	Het
Flii	T	G	11: 60,720,212	I464L	probably benign	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Ift172	T	C	5: 31,261,484	E1162G	probably damaging	Het
Meioc	A	G	11: 102,675,831	S758G	probably damaging	Het
Ndst1	A	C	18: 60,713,076	S54A	probably benign	Het
Ndufaf8	G	T	11: 120,099,229	E56*	probably null	Het
Ndufb7	A	G	8: 83,566,901	D28G	probably benign	Het
Olfr1	T	C	11: 73,395,192	M277V	possibly damaging	Het
Olfr447	A	G	6: 42,911,546	I8V	probably benign	Het
Prkg1	A	T	19: 30,592,924	F443I	probably damaging	Het
Pspc1	C	T	14: 56,764,236	R227H	probably benign	Het
Ptpn21	A	G	12: 98,710,890	Y120H	probably damaging	Het
Runx1t1	A	T	4: 13,841,890		probably null	Het
Ryr3	T	C	2: 112,647,049	D4449G	probably benign	Het
Sacs	C	A	14: 61,189,629	A159E	probably damaging	Het
Thop1	A	G	10: 81,075,559	D93G	probably benign	Het
Tmem92	A	C	11: 94,778,738	M85R	probably benign	Het
Ttn	T	C	2: 76,857,673		probably benign	Het
Zdhhc5	T	C	2: 84,694,375		probably null	Het
Zfp335	T	C	2: 164,892,394	H1291R	probably damaging	Het
Zfp957	C	T	14: 79,214,056	C101Y	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
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
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'- AATTAGGGCACAAATGACAGCC -3'
(R):5'- GTTCTGAAGACAGTGAGCCAG -3'

Sequencing Primer
(F):5'- ATGACAGCCAGACTCGCGTAG -3'
(R):5'- AGCTCACTGTGCAAGTCC -3'

Posted On

2017-03-31