Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02207:Slc29a4'

284512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc29a4

Ensembl Gene

ENSMUSG00000050822

Gene Name

solute carrier family 29 (nucleoside transporters), member 4

Synonyms

mPMAT, ENT4

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

142692512-142722490 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142718885 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 394 (D394G)

Ref Sequence

ENSEMBL: ENSMUSP00000059896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058418]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058418
AA Change: D394G

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: D394G

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
transmembrane domain	138	160	N/A	INTRINSIC
Pfam:Nucleoside_tran	170	501	2e-51	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC29A/ENT transporter protein family. The encoded membrane protein catalyzes the reuptake of monoamines into presynaptic neurons, thus determining the intensity and duration of monoamine neural signaling. It has been shown to transport several compounds, including serotonin, dopamine, and the neurotoxin 1-methyl-4-phenylpyridinium. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic cation and monoamine uptake in the choroid plexus. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	A	T	2: 132,691,946		probably benign	Het
Adamtsl2	A	G	2: 27,102,981	E702G	probably damaging	Het
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Agap3	A	T	5: 24,499,936	T660S	probably benign	Het
Amotl2	A	T	9: 102,724,697	E380V	probably damaging	Het
Ap4e1	A	G	2: 127,011,816	E58G	probably damaging	Het
Arap3	G	A	18: 37,987,853	A713V	probably benign	Het
B4galt2	T	C	4: 117,881,521	D33G	probably damaging	Het
Bbs7	A	T	3: 36,604,490	S212T	probably benign	Het
Ccl26	A	G	5: 135,563,370	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261	S339C	probably benign	Het
Cd55	A	G	1: 130,452,419	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,198,581		probably null	Het
Chrnb4	T	C	9: 55,035,216	D258G	probably damaging	Het
Col4a3bp	T	C	13: 96,624,792		probably null	Het
Commd3	T	C	2: 18,674,008		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,681,755	R59L	probably damaging	Het
Edar	G	T	10: 58,610,521	T194K	probably damaging	Het
Edem3	A	G	1: 151,808,360	I733V	possibly damaging	Het
Elmod2	T	C	8: 83,321,506	Y109C	probably benign	Het
Eps15	C	T	4: 109,304,748		probably benign	Het
Fat4	T	C	3: 38,951,263	V1937A	probably benign	Het
Fdx1l	T	A	9: 21,068,119		probably null	Het
Flg2	A	T	3: 93,220,128	I2116F	unknown	Het
Gm15091	A	G	X: 149,977,466	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,884,539		noncoding transcript	Het
Gm6614	A	T	6: 141,990,432	I309N	possibly damaging	Het
Gpn2	G	A	4: 133,584,636	V60M	possibly damaging	Het
Grip1	G	A	10: 120,075,309	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,263,414	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,778,576	A294V	probably benign	Het
Herc4	G	A	10: 63,299,244		probably null	Het
Ift140	A	G	17: 25,055,598	Y748C	probably benign	Het
Il20ra	A	G	10: 19,751,578	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,583,702		probably null	Het
Kif18a	A	T	2: 109,296,707	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,847,682	I957F	probably damaging	Het
Krt1	A	G	15: 101,848,616	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,329,435	V1768G	probably damaging	Het
Nek9	A	T	12: 85,303,483	L939*	probably null	Het
Nfe2l2	A	G	2: 75,678,525	L122P	probably damaging	Het
Nin	T	C	12: 70,056,657	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,449,278	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,130,931	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,416,078	M71V	probably benign	Het
Ocstamp	T	C	2: 165,397,663	H201R	possibly damaging	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr744	G	A	14: 50,618,558	G112D	probably damaging	Het
Oog4	T	C	4: 143,438,940	I212M	probably benign	Het
Osmr	T	C	15: 6,847,147	T99A	probably benign	Het
Pdia4	A	T	6: 47,796,807	M536K	probably benign	Het
Pdyn	A	T	2: 129,688,518	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,251,678		probably null	Het
Plcb1	A	G	2: 135,387,171	E1105G	probably damaging	Het
Rb1	A	T	14: 73,206,085	D743E	probably damaging	Het
Rdh14	G	A	12: 10,394,712	V188I	possibly damaging	Het
Scd3	T	C	19: 44,215,589	V72A	possibly damaging	Het
Slc25a27	G	A	17: 43,661,684	R104W	probably damaging	Het
Snx29	T	G	16: 11,738,352	M407R	probably damaging	Het
Syf2	A	G	4: 134,935,052		probably null	Het
Syn1	T	C	X: 20,865,137	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,916,647	D602V	probably damaging	Het
Tenm4	A	T	7: 96,874,116	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785		probably benign	Het
Trav6-2	G	A	14: 52,667,432	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,134,754	S53P	probably benign	Het
Vmp1	T	A	11: 86,607,193	I299F	possibly damaging	Het
Xpot	T	C	10: 121,613,580	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,280,465		probably null	Het

Other mutations in Slc29a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Slc29a4	APN	5	142705530	missense	probably benign	0.02
IGL01717:Slc29a4	APN	5	142718746	missense	probably damaging	1.00
IGL02184:Slc29a4	APN	5	142717751	missense	probably damaging	1.00
IGL02210:Slc29a4	APN	5	142718779	missense	probably damaging	1.00
IGL02323:Slc29a4	APN	5	142717652	missense	probably damaging	0.99
IGL02381:Slc29a4	APN	5	142720099	missense	probably benign	0.34
IGL03103:Slc29a4	APN	5	142712080	missense	probably damaging	1.00
IGL03210:Slc29a4	APN	5	142715108	missense	probably damaging	1.00
R0131:Slc29a4	UTSW	5	142705530	missense	probably benign	0.02
R0131:Slc29a4	UTSW	5	142705530	missense	probably benign	0.02
R0132:Slc29a4	UTSW	5	142705530	missense	probably benign	0.02
R0850:Slc29a4	UTSW	5	142718572	missense	probably benign	0.00
R1777:Slc29a4	UTSW	5	142714062	missense	probably damaging	0.96
R1864:Slc29a4	UTSW	5	142717754	missense	probably damaging	1.00
R1870:Slc29a4	UTSW	5	142721488	makesense	probably null
R1871:Slc29a4	UTSW	5	142721488	makesense	probably null
R2092:Slc29a4	UTSW	5	142718855	missense	probably damaging	1.00
R2196:Slc29a4	UTSW	5	142712895	missense	possibly damaging	0.94
R4716:Slc29a4	UTSW	5	142718572	missense	probably benign	0.00
R5002:Slc29a4	UTSW	5	142718746	missense	probably damaging	1.00
R5162:Slc29a4	UTSW	5	142721452	missense	possibly damaging	0.80
R5235:Slc29a4	UTSW	5	142718768	missense	probably damaging	1.00
R5553:Slc29a4	UTSW	5	142720036	missense	probably damaging	1.00
R5642:Slc29a4	UTSW	5	142711972	missense	probably damaging	1.00
R5688:Slc29a4	UTSW	5	142714098	missense	possibly damaging	0.68
R5930:Slc29a4	UTSW	5	142721402	missense	possibly damaging	0.90
R5944:Slc29a4	UTSW	5	142718818	missense	probably damaging	1.00
R6056:Slc29a4	UTSW	5	142720077	missense	probably damaging	0.99
R6409:Slc29a4	UTSW	5	142712071	missense	probably damaging	1.00
R6934:Slc29a4	UTSW	5	142712958	missense	probably benign	0.02
R7508:Slc29a4	UTSW	5	142718506	missense	probably benign	0.00
R7509:Slc29a4	UTSW	5	142718506	missense	probably benign	0.00
R7716:Slc29a4	UTSW	5	142718506	missense	probably benign	0.00
R7910:Slc29a4	UTSW	5	142705401	missense	probably benign	0.00
R7991:Slc29a4	UTSW	5	142705401	missense	probably benign	0.00

Posted On

2015-04-16