Mutagenetix > Incidental Mutation

Incidental Mutation 'R8749:Slc29a4'

663703

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

068592-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142678267-142708245 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 142700819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 188 (Y188C)

Ref Sequence

ENSEMBL: ENSMUSP00000059896 (fasta)

Gene Model

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

AlphaFold

Q8R139

Predicted Effect

probably damaging
Transcript: ENSMUST00000058418
AA Change: Y188C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059896
Gene: ENSMUSG00000050822
AA Change: Y188C

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 benign
Transcript: ENSMUST00000198728

SMART Domains

Protein: ENSMUSP00000142674
Gene: ENSMUSG00000050822

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

Coding Region Coverage

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

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	C	T	13: 4,320,155 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,664,725 (GRCm39)	M888K	unknown	Het
Arhgap23	T	A	11: 97,391,641 (GRCm39)	V223E	probably damaging	Het
Atm	C	T	9: 53,410,497 (GRCm39)	W1028*	probably null	Het
Atp7b	A	G	8: 22,518,334 (GRCm39)	V168A	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Caskin1	C	T	17: 24,723,774 (GRCm39)	A854V	probably benign	Het
Cdcp1	T	C	9: 123,019,027 (GRCm39)	N84S	probably benign	Het
Cdh20	T	A	1: 110,027,009 (GRCm39)	I475N	probably damaging	Het
Ciz1	A	T	2: 32,255,848 (GRCm39)	Y107F	probably benign	Het
Creb3l4	T	C	3: 90,145,199 (GRCm39)	N318D	probably benign	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dmxl1	A	T	18: 50,088,937 (GRCm39)	K2805N	probably damaging	Het
Dusp15	T	A	2: 152,788,209 (GRCm39)	I63F	probably damaging	Het
Dync2h1	T	C	9: 7,035,063 (GRCm39)	Q3462R	probably benign	Het
Evpl	A	G	11: 116,120,232 (GRCm39)	C569R	probably benign	Het
Fmnl3	A	T	15: 99,219,322 (GRCm39)	M766K	possibly damaging	Het
G6pc2	A	G	2: 69,057,140 (GRCm39)	N262S	probably damaging	Het
Galk1	A	T	11: 115,899,762 (GRCm39)	L325Q	probably damaging	Het
H3c3	T	C	13: 23,929,108 (GRCm39)	I125V	probably benign	Het
Hr	G	A	14: 70,795,510 (GRCm39)	G352R	probably damaging	Het
Il12b	A	T	11: 44,294,864 (GRCm39)	M1L	not run	Het
Lpar6	A	T	14: 73,476,950 (GRCm39)	M304L	probably benign	Het
Mpeg1	G	A	19: 12,439,291 (GRCm39)	A250T	probably benign	Het
Mtcl3	T	C	10: 29,072,721 (GRCm39)	I671T	possibly damaging	Het
Neb	T	C	2: 52,180,863 (GRCm39)	K1221R	probably benign	Het
Ogfrl1	T	A	1: 23,409,399 (GRCm39)	I276F	probably damaging	Het
Or4f62	A	G	2: 111,986,869 (GRCm39)	D191G	possibly damaging	Het
Or4k37	T	C	2: 111,158,817 (GRCm39)	C18R	possibly damaging	Het
Or4x12-ps1	T	C	2: 89,916,631 (GRCm39)	Y58C	probably damaging	Het
Oxr1	A	G	15: 41,574,260 (GRCm39)	N2S	probably benign	Het
P3h3	G	A	6: 124,822,940 (GRCm39)	R505C	probably damaging	Het
Pcdhb16	A	T	18: 37,612,392 (GRCm39)	I451F	possibly damaging	Het
Pet117	C	A	2: 144,215,122 (GRCm39)	D36E	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Prkdc	G	A	16: 15,601,029 (GRCm39)	A2897T	possibly damaging	Het
Prkra	A	G	2: 76,460,879 (GRCm39)	L273P	probably damaging	Het
Prr30	T	A	14: 101,436,365 (GRCm39)	T66S	probably benign	Het
Spink5	A	T	18: 44,122,425 (GRCm39)	K297*	probably null	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem100	G	A	11: 89,926,574 (GRCm39)	A134T	probably damaging	Het
Tmem132c	A	G	5: 127,437,003 (GRCm39)	D164G	possibly damaging	Het
Tnfsf18	A	G	1: 161,331,047 (GRCm39)	T66A	possibly damaging	Het
Ubr4	C	T	4: 139,129,935 (GRCm39)	T685I	probably damaging	Het
Uck1	T	C	2: 32,146,524 (GRCm39)	Y185C		Het
Umod	T	A	7: 119,070,639 (GRCm39)	I418F	probably benign	Het
Upp1	A	T	11: 9,079,561 (GRCm39)	S41C	probably damaging	Het
Vmn1r168	A	T	7: 23,240,428 (GRCm39)	Y95F	probably benign	Het
Vmn1r180	G	T	7: 23,652,415 (GRCm39)	D193Y	probably damaging	Het
Vmn2r11	A	G	5: 109,195,319 (GRCm39)	V669A	probably damaging	Het
Vmn2r55	T	A	7: 12,385,796 (GRCm39)	Y728F	probably damaging	Het
Vmn2r78	A	G	7: 86,603,513 (GRCm39)	T564A	possibly damaging	Het
Vps13d	T	A	4: 144,865,183 (GRCm39)	N2057I		Het
Wdfy3	C	T	5: 102,030,446 (GRCm39)	R2354Q	probably damaging	Het
Wdr77	T	A	3: 105,866,975 (GRCm39)	C26S	probably damaging	Het
Yif1b	C	T	7: 28,946,690 (GRCm39)	A267V	probably benign	Het
Zfp316	A	G	5: 143,248,565 (GRCm39)	V227A	unknown	Het
Zfp600	T	A	4: 146,133,151 (GRCm39)	H606Q	unknown	Het
Zfp804a	T	C	2: 82,087,919 (GRCm39)	W583R	probably benign	Het
Zfp961	T	C	8: 72,719,686 (GRCm39)	W39R	probably damaging	Het
Zfp990	T	A	4: 145,264,156 (GRCm39)	C385S	probably 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
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
R9498:Slc29a4	UTSW	5	142,704,233 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGGCAACACTGTTTCTTTCCTG -3'
(R):5'- GGTGTGTGCACATATCCCTC -3'

Sequencing Primer
(F):5'- CCTGTGTTTCTGTATGGCCG -3'
(R):5'- GTGTGCACATATCCCTCCCACC -3'

Posted On

2021-03-08