Mutagenetix > Incidental Mutations

Incidental Mutation 'R1837:Slc16a14'

205358

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

039864-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1837 (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 84912399 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 395 (V395A)

Ref Sequence

ENSEMBL: ENSMUSP00000027422 (fasta)

Gene Model

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

AlphaFold

Q8K1C7

Predicted Effect

probably benign
Transcript: ENSMUST00000027422
AA Change: V395A

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000027422
Gene: ENSMUSG00000026220
AA Change: V395A

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

0.1207

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 94.9%
20x: 91.6%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	G	T	2: 154,553,042	G305W	probably damaging	Het
Actr3b	A	T	5: 25,825,159	T74S	probably benign	Het
Add2	A	G	6: 86,118,558	E652G	probably damaging	Het
Alg9	T	A	9: 50,806,315	V83D	probably damaging	Het
Atp13a2	T	A	4: 140,994,332	Y244*	probably null	Het
BB014433	C	G	8: 15,042,629	V75L	unknown	Het
Bcr	A	G	10: 75,168,100		probably benign	Het
Begain	G	A	12: 109,035,323		probably benign	Het
Bzw1	A	G	1: 58,400,118	K67E	probably damaging	Het
Ccdc141	T	C	2: 77,011,665	E1474G	probably benign	Het
Cdc73	T	A	1: 143,667,657	T314S	possibly damaging	Het
Cfap206	T	C	4: 34,728,813	T31A	probably damaging	Het
Cfap58	G	A	19: 48,029,139	E813K	probably damaging	Het
Clstn2	C	A	9: 97,583,540	A133S	probably benign	Het
Col14a1	A	T	15: 55,382,495	D465V	unknown	Het
Col2a1	C	T	15: 97,996,641		probably benign	Het
Dab2	A	G	15: 6,336,476		probably benign	Het
Eme1	T	C	11: 94,645,961	D464G	probably benign	Het
Eml6	T	C	11: 29,749,802		probably null	Het
Ern1	C	A	11: 106,458,957	L44F	probably damaging	Het
Fam111a	T	A	19: 12,587,452	S188R	probably benign	Het
Fam151b	A	T	13: 92,474,131		probably benign	Het
Fmo6	T	C	1: 162,922,810	N226D	probably benign	Het
Ggt1	A	G	10: 75,579,294	D214G	probably benign	Het
Gm14226	A	G	2: 155,025,010	I296V	probably benign	Het
Gm9915	A	T	1: 42,230,687		noncoding transcript	Het
Heatr5b	T	C	17: 78,820,751	D485G	possibly damaging	Het
Helz2	A	T	2: 181,229,289	I2785N	probably damaging	Het
Htt	C	T	5: 34,819,023	T723M	probably benign	Het
Hydin	C	A	8: 110,569,625	H3595Q	probably benign	Het
Il6ra	T	C	3: 89,890,272	D96G	probably benign	Het
Kif5a	G	A	10: 127,236,815	Q702*	probably null	Het
Klhdc7a	G	T	4: 139,967,070	P189T	probably benign	Het
Krt7	A	G	15: 101,419,582	D252G	probably benign	Het
Lad1	C	A	1: 135,829,706	D394E	probably benign	Het
Lhx8	A	T	3: 154,328,055	C38S	possibly damaging	Het
Lta4h	C	T	10: 93,469,175	T280M	probably damaging	Het
Magi2	A	T	5: 20,465,827	T163S	probably damaging	Het
Med1	G	T	11: 98,169,412	D230E	probably damaging	Het
Mmp1b	A	T	9: 7,386,409	F171I	probably damaging	Het
Mprip	T	C	11: 59,766,745	V801A	probably damaging	Het
Mtrf1	A	G	14: 79,401,833	E135G	possibly damaging	Het
Muc5ac	T	A	7: 141,807,086	M1378K	probably benign	Het
Myo3a	A	T	2: 22,577,592	Q286L	possibly damaging	Het
Ndor1	C	T	2: 25,248,396	G391R	probably damaging	Het
Nefl	C	T	14: 68,086,626	R438C	probably damaging	Het
Nlrp3	G	A	11: 59,548,916	V440I	probably benign	Het
Notch3	A	T	17: 32,124,322	L1959Q	probably damaging	Het
Noto	A	G	6: 85,424,177	T63A	probably benign	Het
Oc90	G	A	15: 65,889,680	T163M	probably damaging	Het
Olfr1219	A	T	2: 89,074,832	Y86*	probably null	Het
Olfr1436	A	G	19: 12,298,376	V252A	probably damaging	Het
Olfr365	T	A	2: 37,202,102	M287K	probably benign	Het
Pdpr	C	A	8: 111,134,734	P787T	probably damaging	Het
Phlda1	A	G	10: 111,507,231	Q276R	probably benign	Het
Ptpn21	T	G	12: 98,733,626	K10Q	probably damaging	Het
Ptprb	A	G	10: 116,341,626	E1364G	probably benign	Het
Rabep1	T	A	11: 70,904,658	W237R	probably damaging	Het
Rai1	A	T	11: 60,189,398	K1429N	probably damaging	Het
Rapgef1	A	G	2: 29,737,426	I1027M	probably damaging	Het
Rit1	C	G	3: 88,729,170	T127S	probably damaging	Het
Rpap1	A	C	2: 119,769,885		probably null	Het
Senp7	T	A	16: 56,158,516	C471S	probably benign	Het
Slc45a1	C	T	4: 150,638,459	G323S	probably benign	Het
Syne2	A	T	12: 75,967,660	E3208D	probably damaging	Het
Tap1	C	T	17: 34,188,109	A77V	possibly damaging	Het
Ticam1	T	C	17: 56,270,799	E432G	possibly damaging	Het
Tmem192	C	A	8: 64,964,340		probably benign	Het
Trub1	T	C	19: 57,453,029	V28A	probably benign	Het
Ttc21b	A	T	2: 66,197,762	L1121H	probably benign	Het
Ttc38	A	G	15: 85,851,563	D290G	probably damaging	Het
Ulk1	C	T	5: 110,789,381	G683D	probably damaging	Het
Vmn1r122	A	T	7: 21,133,366	F255I	probably benign	Het
Vmn2r68	T	A	7: 85,233,678	I289F	probably damaging	Het
Vps39	A	T	2: 120,325,397	L514H	probably damaging	Het
Wdr48	T	G	9: 119,905,416	S134A	probably damaging	Het
Yap1	A	T	9: 7,962,349	Y139N	probably damaging	Het
Ylpm1	T	C	12: 85,029,333	V486A	possibly damaging	Het
Zbtb38	T	C	9: 96,686,995	T679A	probably benign	Het
Zfp292	A	G	4: 34,810,264	S927P	probably damaging	Het
Zfp324	C	T	7: 12,970,229	T115I	probably benign	Het
Zfp523	T	A	17: 28,194,993	I34N	probably damaging	Het
Zfp945	A	T	17: 22,851,273	C551S	probably damaging	Het
Zfp958	A	G	8: 4,628,590	H205R	probably damaging	Het
Zfp974	G	A	7: 27,910,356	P648L	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
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
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'- GCGAATGGTGGTCCTAGTAAGG -3'
(R):5'- TACAGCAGCTTTGTCATCCC -3'

Sequencing Primer
(F):5'- GTCCTAGTAAGGCTGAGATGC -3'
(R):5'- CTTTCATCCACCTGCCCGAAATC -3'

Posted On

2014-06-23