Mutagenetix > Incidental Mutation

Incidental Mutation 'R9498:Slc29a4'

717359

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9498 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142678267-142708245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142704233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 296 (S296T)

Ref Sequence

ENSEMBL: ENSMUSP00000059896 (fasta)

Gene Model

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

AlphaFold

Q8R139

Predicted Effect

probably benign
Transcript: ENSMUST00000058418
AA Change: S296T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: S296T

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
Aadacl3	A	G	4: 144,182,989 (GRCm39)	Y160H	probably damaging	Het
Abca17	T	C	17: 24,484,480 (GRCm39)	Y1594C	probably damaging	Het
Abca8a	T	C	11: 109,977,374 (GRCm39)	I128M	probably damaging	Het
Abhd12b	A	G	12: 70,210,237 (GRCm39)	I138V	probably benign	Het
Adcy8	G	A	15: 64,792,045 (GRCm39)	L304F	possibly damaging	Het
Alb	T	C	5: 90,617,362 (GRCm39)	F354L	probably damaging	Het
Ampd3	T	A	7: 110,409,053 (GRCm39)	S688R	probably damaging	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Areg	T	G	5: 91,294,553 (GRCm39)	L237R	probably damaging	Het
Arhgef11	A	G	3: 87,640,484 (GRCm39)	S1243G	probably benign	Het
B3glct	A	G	5: 149,673,894 (GRCm39)		probably null	Het
Casp7	T	A	19: 56,424,767 (GRCm39)	L162Q	probably damaging	Het
Cdh20	A	G	1: 109,976,635 (GRCm39)	N100S	probably benign	Het
Cdh22	G	T	2: 164,954,490 (GRCm39)	T677N	probably damaging	Het
Cmtm5	T	A	14: 55,174,205 (GRCm39)	S31T	probably benign	Het
Col6a3	T	A	1: 90,713,650 (GRCm39)	R2295*	probably null	Het
Cpa6	T	C	1: 10,479,546 (GRCm39)	N229S	possibly damaging	Het
Dagla	G	T	19: 10,232,218 (GRCm39)	Y489*	probably null	Het
Dnah7b	A	G	1: 46,253,564 (GRCm39)	K1823R	probably benign	Het
Dnah9	T	C	11: 65,739,199 (GRCm39)	N4180D	probably damaging	Het
Dsg3	A	C	18: 20,658,278 (GRCm39)	E296D	probably damaging	Het
Ednra	A	T	8: 78,446,934 (GRCm39)	L48Q	probably benign	Het
Esco2	T	C	14: 66,068,752 (GRCm39)	D186G	probably benign	Het
Foxj2	A	G	6: 122,819,792 (GRCm39)	D560G	probably damaging	Het
Frmd3	G	A	4: 74,038,055 (GRCm39)	M105I	probably benign	Het
Gria4	A	T	9: 4,503,560 (GRCm39)		probably null	Het
Hrob	T	C	11: 102,150,167 (GRCm39)	S410P	probably benign	Het
Ifi204	T	C	1: 173,583,537 (GRCm39)	E227G	possibly damaging	Het
Lgalsl	T	A	11: 20,779,439 (GRCm39)	I69F	possibly damaging	Het
Myo15b	A	G	11: 115,770,784 (GRCm39)	T1588A		Het
Myo9a	A	G	9: 59,734,466 (GRCm39)	S683G	probably damaging	Het
Ncam2	T	C	16: 81,309,887 (GRCm39)	I459T	probably benign	Het
Nedd4l	T	C	18: 65,294,723 (GRCm39)		probably null	Het
Nfic	T	C	10: 81,256,502 (GRCm39)	E54G	probably damaging	Het
Nrxn1	T	C	17: 90,897,397 (GRCm39)	T920A	probably damaging	Het
Obsl1	C	T	1: 75,467,484 (GRCm39)	C1430Y	probably damaging	Het
Or8k17	A	G	2: 86,066,838 (GRCm39)	F107L	probably damaging	Het
Pcbp2	G	A	15: 102,406,941 (GRCm39)	G357D	probably benign	Het
Pcdhb1	A	G	18: 37,398,516 (GRCm39)	S156G	probably damaging	Het
Pcdhb15	A	T	18: 37,606,890 (GRCm39)	R41*	probably null	Het
Pde1b	A	T	15: 103,435,489 (GRCm39)	D448V	probably benign	Het
Pex7	G	A	10: 19,762,859 (GRCm39)	R227*	probably null	Het
Pkp1	T	A	1: 135,817,820 (GRCm39)	Y105F	probably benign	Het
Plbd1	T	C	6: 136,589,244 (GRCm39)	T529A	possibly damaging	Het
Plxnc1	C	G	10: 94,649,004 (GRCm39)	Q1258H	possibly damaging	Het
Prr36	T	A	8: 4,263,291 (GRCm39)	T792S	unknown	Het
Rasgrf1	A	T	9: 89,826,921 (GRCm39)	T177S	probably benign	Het
Rbm14	A	G	19: 4,853,495 (GRCm39)	S296P	probably benign	Het
Rfx8	T	C	1: 39,724,674 (GRCm39)	Y229C	probably damaging	Het
Rgs3	A	T	4: 62,575,412 (GRCm39)	S600C	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Srsf6	A	G	2: 162,774,009 (GRCm39)	E68G	probably benign	Het
Syt13	A	T	2: 92,781,749 (GRCm39)	N317Y	possibly damaging	Het
Tars2	A	T	3: 95,647,553 (GRCm39)	L701Q	probably damaging	Het
Tbc1d16	A	T	11: 119,048,681 (GRCm39)	V324E	probably damaging	Het
Tbc1d21	A	G	9: 58,273,924 (GRCm39)	L84P	probably damaging	Het
Trappc6b	A	G	12: 59,097,127 (GRCm39)	M65T	possibly damaging	Het
Tubb1	A	G	2: 174,299,403 (GRCm39)	N362D	probably benign	Het
Tubgcp5	C	T	7: 55,463,233 (GRCm39)	T475M	possibly damaging	Het
Ugt2b37	T	C	5: 87,402,244 (GRCm39)	K129R	probably benign	Het
Vmn2r55	A	G	7: 12,404,812 (GRCm39)	V197A	probably damaging	Het
Wfdc3	G	A	2: 164,584,997 (GRCm39)	L4F	possibly damaging	Het
Zfp141	T	A	7: 42,125,770 (GRCm39)	Q234L	probably benign	Het
Zfp850	T	C	7: 27,689,275 (GRCm39)	K311R	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
R8861:Slc29a4	UTSW	5	142,704,580 (GRCm39)	missense	probably damaging	0.96
R9236:Slc29a4	UTSW	5	142,698,702 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTGTGTGACTTAAGGCTCTGTGAC -3'
(R):5'- AATGTTAGAGGCTGGCGCTC -3'

Sequencing Primer
(F):5'- AAGGCTCTGTGACTTAAGGC -3'
(R):5'- GGCCCCTGCTGTCTCAG -3'

Posted On

2022-07-18