Mutagenetix > Incidental Mutation

Incidental Mutation 'R8861:Slc29a4'

675653

Institutional Source

Beutler Lab

Gene Symbol

Slc29a4

Ensembl Gene

ENSMUSG00000050822

Gene Name

solute carrier family 29 (nucleoside transporters), member 4

Synonyms

ENT4, mPMAT

MMRRC Submission

068740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8861 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142678267-142708245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 142704580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Proline at position 374 (R374P)

Ref Sequence

ENSEMBL: ENSMUSP00000059896 (fasta)

Gene Model

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

AlphaFold

Q8R139

Predicted Effect

probably damaging
Transcript: ENSMUST00000058418
AA Change: R374P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: R374P

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

Meta Mutation Damage Score

0.1935

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,396,642 (GRCm39)		probably benign	Het
Acly	A	G	11: 100,375,424 (GRCm39)		probably null	Het
Agap2	T	G	10: 126,926,383 (GRCm39)	V896G	unknown	Het
Agtpbp1	T	C	13: 59,643,287 (GRCm39)	Y724C	probably damaging	Het
Angpt4	A	G	2: 151,767,373 (GRCm39)	N135D	probably damaging	Het
Aox3	T	A	1: 58,189,460 (GRCm39)	I387K	probably benign	Het
Bysl	T	C	17: 47,917,884 (GRCm39)	E103G	probably benign	Het
Cdcp3	A	T	7: 130,861,690 (GRCm39)	K1168*	probably null	Het
Chmp5	T	A	4: 40,964,608 (GRCm39)	V208E	probably damaging	Het
Chst9	T	G	18: 15,585,630 (GRCm39)	H311P	possibly damaging	Het
Cilk1	T	A	9: 78,071,844 (GRCm39)	N505K	probably benign	Het
Dcaf11	C	A	14: 55,801,955 (GRCm39)	Y235*	probably null	Het
Dlx5	A	C	6: 6,878,233 (GRCm39)	S266A	probably benign	Het
Dnah7b	T	A	1: 46,280,236 (GRCm39)	S2722T	possibly damaging	Het
Drc1	G	A	5: 30,521,839 (GRCm39)		probably benign	Het
En2	T	A	5: 28,371,733 (GRCm39)	I70N	probably damaging	Het
Fam72a	T	C	1: 131,466,656 (GRCm39)	Y147H	possibly damaging	Het
Fermt2	A	T	14: 45,697,466 (GRCm39)	F628L	possibly damaging	Het
Fkrp	T	A	7: 16,544,749 (GRCm39)	D371V	probably damaging	Het
Fmn1	T	C	2: 113,195,149 (GRCm39)	L283P	unknown	Het
Gm13271	G	A	4: 88,673,366 (GRCm39)	V88I	probably benign	Het
Gnmt	G	A	17: 47,037,618 (GRCm39)	T120M	probably damaging	Het
H2-T22	A	T	17: 36,353,290 (GRCm39)	V10D	possibly damaging	Het
Hbs1l	T	A	10: 21,220,963 (GRCm39)		probably benign	Het
Igf2bp3	A	C	6: 49,082,550 (GRCm39)	M344R	possibly damaging	Het
Kdm1b	T	C	13: 47,217,582 (GRCm39)	V347A	probably benign	Het
Klra17	A	T	6: 129,851,865 (GRCm39)	S2R	probably damaging	Het
Klri1	A	G	6: 129,675,164 (GRCm39)	S199P	probably benign	Het
Ltk	T	A	2: 119,590,094 (GRCm39)	Q44L	probably benign	Het
Map3k20	C	A	2: 72,219,811 (GRCm39)		probably benign	Het
Matn4	A	T	2: 164,234,825 (GRCm39)	Y549N		Het
Mcoln3	T	A	3: 145,845,159 (GRCm39)	F452I	probably damaging	Het
Mipol1	T	C	12: 57,352,802 (GRCm39)	V47A	probably benign	Het
Msh4	A	G	3: 153,607,105 (GRCm39)	L145S	probably benign	Het
Myh11	A	T	16: 14,064,646 (GRCm39)	I224N		Het
Nat8f1	A	G	6: 85,887,444 (GRCm39)	L172P	probably damaging	Het
Ncoa7	T	A	10: 30,567,364 (GRCm39)	K438I	probably benign	Het
Nr1h3	T	G	2: 91,024,026 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,847,484 (GRCm39)		probably null	Het
Or4b12	T	C	2: 90,096,803 (GRCm39)		probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Pfn4	T	A	12: 4,825,456 (GRCm39)	Y98N	probably benign	Het
Ppp6r2	T	G	15: 89,143,368 (GRCm39)	C172G	probably damaging	Het
Ptprk	A	G	10: 28,446,186 (GRCm39)	D979G	probably damaging	Het
Rbm28	A	G	6: 29,152,284 (GRCm39)	I329T	probably damaging	Het
Rnf144a	T	C	12: 26,389,343 (GRCm39)	T33A	probably damaging	Het
Rnf145	A	G	11: 44,445,984 (GRCm39)	T273A	probably damaging	Het
Rnf213	G	A	11: 119,333,062 (GRCm39)	R2758H		Het
Slc22a19	A	T	19: 7,660,324 (GRCm39)	M362K	possibly damaging	Het
Slc43a1	A	G	2: 84,691,748 (GRCm39)	T528A	possibly damaging	Het
Sp3	A	T	2: 72,801,630 (GRCm39)	Y172N	probably damaging	Het
Srpra	T	A	9: 35,127,045 (GRCm39)	M573K	probably benign	Het
Steap4	A	G	5: 8,025,672 (GRCm39)	I78V	probably benign	Het
Sulf2	A	G	2: 165,974,606 (GRCm39)	L26P	possibly damaging	Het
Taok2	T	C	7: 126,470,615 (GRCm39)	K738E	probably damaging	Het
Tcea3	G	A	4: 135,981,810 (GRCm39)	R56H	probably damaging	Het
Tcf20	A	G	15: 82,736,726 (GRCm39)	V1575A	probably damaging	Het
Togaram1	T	G	12: 65,027,406 (GRCm39)	S798R	possibly damaging	Het

Other mutations in Slc29a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01317:Slc29a4	APN	5	142,691,285 (GRCm39)	missense	probably benign	0.02
IGL01717:Slc29a4	APN	5	142,704,501 (GRCm39)	missense	probably damaging	1.00
IGL02184:Slc29a4	APN	5	142,703,506 (GRCm39)	missense	probably damaging	1.00
IGL02207:Slc29a4	APN	5	142,704,640 (GRCm39)	missense	possibly damaging	0.76
IGL02210:Slc29a4	APN	5	142,704,534 (GRCm39)	missense	probably damaging	1.00
IGL02323:Slc29a4	APN	5	142,703,407 (GRCm39)	missense	probably damaging	0.99
IGL02381:Slc29a4	APN	5	142,705,854 (GRCm39)	missense	probably benign	0.34
IGL03103:Slc29a4	APN	5	142,697,835 (GRCm39)	missense	probably damaging	1.00
IGL03210:Slc29a4	APN	5	142,700,863 (GRCm39)	missense	probably damaging	1.00
R0131:Slc29a4	UTSW	5	142,691,285 (GRCm39)	missense	probably benign	0.02
R0131:Slc29a4	UTSW	5	142,691,285 (GRCm39)	missense	probably benign	0.02
R0132:Slc29a4	UTSW	5	142,691,285 (GRCm39)	missense	probably benign	0.02
R0850:Slc29a4	UTSW	5	142,704,327 (GRCm39)	missense	probably benign	0.00
R1777:Slc29a4	UTSW	5	142,699,817 (GRCm39)	missense	probably damaging	0.96
R1864:Slc29a4	UTSW	5	142,703,509 (GRCm39)	missense	probably damaging	1.00
R1870:Slc29a4	UTSW	5	142,707,243 (GRCm39)	makesense	probably null
R1871:Slc29a4	UTSW	5	142,707,243 (GRCm39)	makesense	probably null
R2092:Slc29a4	UTSW	5	142,704,610 (GRCm39)	missense	probably damaging	1.00
R2196:Slc29a4	UTSW	5	142,698,650 (GRCm39)	missense	possibly damaging	0.94
R4716:Slc29a4	UTSW	5	142,704,327 (GRCm39)	missense	probably benign	0.00
R5002:Slc29a4	UTSW	5	142,704,501 (GRCm39)	missense	probably damaging	1.00
R5162:Slc29a4	UTSW	5	142,707,207 (GRCm39)	missense	possibly damaging	0.80
R5235:Slc29a4	UTSW	5	142,704,523 (GRCm39)	missense	probably damaging	1.00
R5553:Slc29a4	UTSW	5	142,705,791 (GRCm39)	missense	probably damaging	1.00
R5642:Slc29a4	UTSW	5	142,697,727 (GRCm39)	missense	probably damaging	1.00
R5688:Slc29a4	UTSW	5	142,699,853 (GRCm39)	missense	possibly damaging	0.68
R5930:Slc29a4	UTSW	5	142,707,157 (GRCm39)	missense	possibly damaging	0.90
R5944:Slc29a4	UTSW	5	142,704,573 (GRCm39)	missense	probably damaging	1.00
R6056:Slc29a4	UTSW	5	142,705,832 (GRCm39)	missense	probably damaging	0.99
R6409:Slc29a4	UTSW	5	142,697,826 (GRCm39)	missense	probably damaging	1.00
R6934:Slc29a4	UTSW	5	142,698,713 (GRCm39)	missense	probably benign	0.02
R7508:Slc29a4	UTSW	5	142,704,261 (GRCm39)	missense	probably benign	0.00
R7509:Slc29a4	UTSW	5	142,704,261 (GRCm39)	missense	probably benign	0.00
R7716:Slc29a4	UTSW	5	142,704,261 (GRCm39)	missense	probably benign	0.00
R7910:Slc29a4	UTSW	5	142,691,156 (GRCm39)	missense	probably benign	0.00
R8351:Slc29a4	UTSW	5	142,703,584 (GRCm39)	missense	probably benign	0.01
R8408:Slc29a4	UTSW	5	142,691,109 (GRCm39)	critical splice acceptor site	probably null
R8411:Slc29a4	UTSW	5	142,705,880 (GRCm39)	missense	probably damaging	1.00
R8749:Slc29a4	UTSW	5	142,700,819 (GRCm39)	missense	probably damaging	1.00
R9236:Slc29a4	UTSW	5	142,698,702 (GRCm39)	missense	probably damaging	0.98
R9498:Slc29a4	UTSW	5	142,704,233 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTCAGAGGTAACGTGATACTGTGG -3'
(R):5'- GGCTACCATTCTTCCAACACG -3'

Sequencing Primer
(F):5'- AACGTGATACTGTGGAGTCCG -3'
(R):5'- ACACGTACCCTCAGCCTGG -3'

Posted On

2021-07-15