Mutagenetix > Incidental Mutations

Incidental Mutation 'R5642:Slc29a4'

440740

Institutional Source

Beutler Lab

Gene Symbol

Slc29a4

Ensembl Gene

ENSMUSG00000050822

Gene Name

solute carrier family 29 (nucleoside transporters), member 4

Synonyms

mPMAT, ENT4

MMRRC Submission

043290-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5642 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

142692512-142722490 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142711972 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 60 (E60G)

Ref Sequence

ENSEMBL: ENSMUSP00000142674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058418] [ENSMUST00000198728]

Predicted Effect

probably damaging
Transcript: ENSMUST00000058418
AA Change: E60G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: E60G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198728
AA Change: E60G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142674
Gene: ENSMUSG00000050822
AA Change: E60G

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483	Q4231L	probably damaging	Het
Abcc1	A	G	16: 14,443,455	E699G	probably damaging	Het
Ap4e1	T	A	2: 127,064,979	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923	I100F	possibly damaging	Het
Cdh16	A	G	8: 104,618,045	F485L	probably damaging	Het
Cdhr5	T	A	7: 141,269,197	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765	N51K	probably damaging	Het
Col3a1	T	A	1: 45,331,712		probably benign	Het
Cxcr1	G	A	1: 74,191,828	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,816,319		probably null	Het
Dalrd3	C	T	9: 108,572,290	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611	I125N	unknown	Het
Grm3	A	G	5: 9,570,536	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,106,855	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,879,202	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496		probably null	Het
Sema3e	A	G	5: 14,162,243	D111G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,511,300	A166E	probably damaging	Het
Tex14	A	G	11: 87,514,220	R653G	probably benign	Het
Them6	A	T	15: 74,721,805	R171W	probably null	Het
Tln2	T	C	9: 67,296,358	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515	C469*	probably null	Het
Tpr	T	C	1: 150,423,818	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418	E543G		Het
Wdr92	A	G	11: 17,227,263	N207S	possibly damaging	Het
Zfat	A	T	15: 68,180,916	V343E	probably damaging	Het
Zfp316	T	C	5: 143,264,091	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748	K677E	probably benign	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
IGL02207:Slc29a4	APN	5	142718885	missense	possibly damaging	0.76
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
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
R8408:Slc29a4	UTSW	5	142705354	critical splice acceptor site	probably null
R8411:Slc29a4	UTSW	5	142720125	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGTAACACTGGCATGGCG -3'
(R):5'- ATCAGTTGTTCTCTCCAGGCAAC -3'

Sequencing Primer
(F):5'- CACTGGCATGGCGTCTGTG -3'
(R):5'- CGTCCCTTGGGATTCTCAGAG -3'

Posted On

2016-11-08