Mutagenetix > Incidental Mutation

Incidental Mutation 'R8987:Slc28a3'

716085

Institutional Source

Beutler Lab

Gene Symbol

Slc28a3

Ensembl Gene

ENSMUSG00000021553

Gene Name

solute carrier family 28 (sodium-coupled nucleoside transporter), member 3

Synonyms

Cnt3

MMRRC Submission

068819-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8987 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58701121-58758691 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 58719254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022036]

AlphaFold

Q9ERH8

Predicted Effect

probably benign
Transcript: ENSMUST00000022036

SMART Domains

Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553

Domain	Start	End	E-Value	Type
transmembrane domain	119	141	N/A	INTRINSIC
transmembrane domain	146	163	N/A	INTRINSIC
transmembrane domain	184	206	N/A	INTRINSIC
Pfam:Nucleos_tra2_N	221	292	3.5e-27	PFAM
Pfam:Gate	300	401	4.9e-11	PFAM
Pfam:Nucleos_tra2_C	403	627	4.1e-83	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

96% (123/128)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleoside transporters, such as SLC28A3, regulate multiple cellular processes, including neurotransmission, vascular tone, adenosine concentration in the vicinity of cell surface receptors, and transport and metabolism of nucleoside drugs. SLC28A3 shows broad specificity for pyrimidine and purine nucleosides (Ritzel et al., 2001 [PubMed 11032837]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	T	C	5: 113,830,813 (GRCm39)	K59R	unknown	Het
Abcb4	T	C	5: 8,977,931 (GRCm39)	V503A	probably benign	Het
Actn4	A	G	7: 28,596,398 (GRCm39)	V699A	probably benign	Het
Adam26a	T	A	8: 44,022,358 (GRCm39)	K377N	probably benign	Het
Adam6b	C	T	12: 113,454,748 (GRCm39)	R522C	probably damaging	Het
Ahi1	A	G	10: 20,839,683 (GRCm39)	Y198C	probably damaging	Het
Ankrd44	G	A	1: 54,700,349 (GRCm39)	Q720*	probably null	Het
Arhgap26	A	T	18: 39,490,652 (GRCm39)	M297L		Het
Arhgef11	C	T	3: 87,637,788 (GRCm39)	T1093I	probably damaging	Het
Arhgef25	C	A	10: 127,018,735 (GRCm39)	R609S	probably damaging	Het
Arhgef28	G	T	13: 98,190,472 (GRCm39)	H162Q	possibly damaging	Het
Atg4b	A	G	1: 93,706,081 (GRCm39)	E178G	possibly damaging	Het
Atxn1l	T	C	8: 110,459,117 (GRCm39)	T382A	probably benign	Het
Bdp1	A	G	13: 100,204,021 (GRCm39)	V667A	probably benign	Het
C6	T	C	15: 4,844,344 (GRCm39)	I922T		Het
Ccdc191	A	G	16: 43,751,710 (GRCm39)	T347A	probably benign	Het
Cd22	G	T	7: 30,577,172 (GRCm39)	P45H	probably damaging	Het
Cdc45	A	G	16: 18,630,300 (GRCm39)	F6L	probably benign	Het
Cenpj	T	C	14: 56,764,383 (GRCm39)	E1343G	possibly damaging	Het
Chtf8	T	A	8: 107,612,735 (GRCm39)	N68I	probably benign	Het
Cldn8	C	T	16: 88,359,733 (GRCm39)	C64Y	probably damaging	Het
Cntnap2	G	T	6: 46,460,983 (GRCm39)	S673I	probably benign	Het
Cyp3a13	C	T	5: 137,909,849 (GRCm39)	R158K	probably benign	Het
Cyp3a57	A	T	5: 145,311,039 (GRCm39)		probably null	Het
Cyp3a57	G	T	5: 145,311,040 (GRCm39)		probably null	Het
D630045J12Rik	A	G	6: 38,173,898 (GRCm39)	I90T	probably benign	Het
Dapk2	A	G	9: 66,157,602 (GRCm39)		probably benign	Het
Dmxl1	A	G	18: 50,026,919 (GRCm39)	D2009G		Het
Dnah1	C	T	14: 31,033,704 (GRCm39)	V290I	possibly damaging	Het
Doc2g	A	T	19: 4,054,511 (GRCm39)		probably null	Het
Dpysl2	C	T	14: 67,045,402 (GRCm39)	G457D	probably damaging	Het
Drc1	A	T	5: 30,521,439 (GRCm39)	Y700F	probably damaging	Het
Ehbp1	A	G	11: 22,003,531 (GRCm39)	Y1073H	probably damaging	Het
Epm2aip1	T	A	9: 111,101,036 (GRCm39)	M3K	probably benign	Het
Erich3	G	A	3: 154,415,340 (GRCm39)	R152Q		Het
Exoc5	C	T	14: 49,252,986 (GRCm39)	R609H	probably damaging	Het
Fam135b	T	A	15: 71,334,189 (GRCm39)	T1002S	probably benign	Het
Fanca	C	T	8: 124,024,538 (GRCm39)	E528K	probably damaging	Het
Fsd2	C	A	7: 81,209,766 (GRCm39)	M25I	probably benign	Het
Fyco1	T	C	9: 123,658,139 (GRCm39)	E679G	possibly damaging	Het
Gas6	T	A	8: 13,520,294 (GRCm39)	M465L	probably damaging	Het
Gfra3	A	G	18: 34,823,879 (GRCm39)	V365A	probably benign	Het
Gm10269	T	G	18: 20,815,981 (GRCm39)	K14Q	possibly damaging	Het
Gm21798	G	A	15: 64,689,756 (GRCm39)		probably null	Het
Gm5916	T	A	9: 36,032,286 (GRCm39)	R49S	probably benign	Het
Gpam	G	T	19: 55,072,227 (GRCm39)	T266N	possibly damaging	Het
Gtse1	A	G	15: 85,753,109 (GRCm39)	E408G	probably benign	Het
Hmgcll1	A	T	9: 76,037,592 (GRCm39)		probably null	Het
Hspa12a	T	A	19: 58,787,903 (GRCm39)	R640*	probably null	Het
Hspa9	T	C	18: 35,080,982 (GRCm39)	D233G	probably damaging	Het
Htt	T	G	5: 34,977,368 (GRCm39)	I751M	probably benign	Het
Hydin	T	A	8: 111,239,766 (GRCm39)	Y2015*	probably null	Het
Ift43	A	C	12: 86,208,275 (GRCm39)	M138L	probably benign	Het
Il11	C	T	7: 4,779,029 (GRCm39)	V93M	probably damaging	Het
Iws1	T	A	18: 32,226,645 (GRCm39)	F741L	possibly damaging	Het
Jmy	A	T	13: 93,589,397 (GRCm39)	I620N	probably damaging	Het
Kap	T	A	6: 133,830,689 (GRCm39)		probably benign	Het
Kcnk15	A	G	2: 163,700,217 (GRCm39)	N152S	probably damaging	Het
Kif16b	T	C	2: 142,743,278 (GRCm39)	K5R	probably benign	Het
Kif16b	C	T	2: 142,691,783 (GRCm39)		probably null	Het
Kirrel1	C	T	3: 86,992,400 (GRCm39)	R555H	probably damaging	Het
Krt36	A	G	11: 99,994,372 (GRCm39)	V235A	possibly damaging	Het
Lca5	A	G	9: 83,283,796 (GRCm39)	S246P	probably damaging	Het
Maml1	T	C	11: 50,157,575 (GRCm39)	D200G	probably damaging	Het
Maml3	T	C	3: 51,597,868 (GRCm39)	R939G	probably damaging	Het
Mgam	A	T	6: 40,706,570 (GRCm39)	T74S	probably damaging	Het
Mib2	G	T	4: 155,745,351 (GRCm39)	D125E	probably benign	Het
Muc16	A	T	9: 18,462,981 (GRCm39)	L7407*	probably null	Het
Mycbp2	A	T	14: 103,446,232 (GRCm39)	N1865K	probably damaging	Het
Naip1	A	G	13: 100,563,434 (GRCm39)	L577S	probably damaging	Het
Nell1	A	T	7: 50,498,399 (GRCm39)	D652V	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nxph1	G	A	6: 8,950,312 (GRCm39)		probably benign	Het
Oas1h	T	A	5: 121,005,152 (GRCm39)	I200N	probably damaging	Het
Or2h2b-ps1	A	G	17: 37,480,867 (GRCm39)	L122P	probably damaging	Het
Or2h2b-ps1	A	T	17: 37,480,990 (GRCm39)	I81N	probably damaging	Het
Or8g53	A	T	9: 39,683,688 (GRCm39)	M136K	probably benign	Het
Otog	A	T	7: 45,936,878 (GRCm39)	Q1529L	probably benign	Het
Otop1	A	T	5: 38,457,071 (GRCm39)	I277F	probably damaging	Het
Pax5	G	A	4: 44,645,661 (GRCm39)	Q223*	probably null	Het
Pcdha9	T	A	18: 37,132,998 (GRCm39)	I689N	probably benign	Het
Pcsk6	A	T	7: 65,576,975 (GRCm39)	R138*	probably null	Het
Pitpnm3	A	T	11: 72,003,132 (GRCm39)	N59K	probably damaging	Het
Pla2g4d	G	A	2: 120,100,442 (GRCm39)	T630I	probably damaging	Het
Plekhg5	T	A	4: 152,188,372 (GRCm39)		probably benign	Het
Plxnb1	T	A	9: 108,937,178 (GRCm39)		probably benign	Het
Prss28	T	A	17: 25,528,395 (GRCm39)	L6H	probably damaging	Het
Pyroxd1	T	A	6: 142,302,251 (GRCm39)	V228E		Het
Ripk2	G	A	4: 16,123,699 (GRCm39)	T492M	possibly damaging	Het
Satb1	A	T	17: 52,112,381 (GRCm39)	C78S	probably damaging	Het
Scaf11	A	T	15: 96,316,557 (GRCm39)	C1002*	probably null	Het
Scarf2	A	C	16: 17,622,768 (GRCm39)	Q499P	probably damaging	Het
Selenbp1	T	A	3: 94,847,425 (GRCm39)	M244K	probably benign	Het
Sik2	T	C	9: 50,806,647 (GRCm39)	N921S	probably benign	Het
Slc25a1	A	T	16: 17,743,744 (GRCm39)	V290E	probably damaging	Het
Slc35b4	A	T	6: 34,137,442 (GRCm39)	D213E	probably benign	Het
Slc40a1	A	C	1: 45,950,495 (GRCm39)	M319R	probably damaging	Het
Slc8a1	A	T	17: 81,955,282 (GRCm39)	F585L	possibly damaging	Het
Slco3a1	T	A	7: 73,970,324 (GRCm39)	N428Y	possibly damaging	Het
Slfn2	G	A	11: 82,960,363 (GRCm39)	C114Y	probably damaging	Het
Smg5	T	C	3: 88,267,714 (GRCm39)		probably null	Het
Spata13	T	A	14: 60,993,896 (GRCm39)	L1116Q	possibly damaging	Het
Spmap1	C	T	11: 97,666,510 (GRCm39)	V59M	probably damaging	Het
Syne1	A	G	10: 5,177,579 (GRCm39)	V4965A	possibly damaging	Het
Tacc3	G	T	5: 33,826,169 (GRCm39)	V472F	possibly damaging	Het
Tacr3	T	A	3: 134,560,573 (GRCm39)	Y171N	probably damaging	Het
Tacr3	T	G	3: 134,560,718 (GRCm39)	L219R	probably damaging	Het
Tbx3	C	A	5: 119,818,886 (GRCm39)	A507E	possibly damaging	Het
Telo2	A	T	17: 25,324,402 (GRCm39)	D494E	probably damaging	Het
Tfip11	T	C	5: 112,484,921 (GRCm39)	F744S	possibly damaging	Het
Tgm3	A	C	2: 129,880,403 (GRCm39)	N403T	probably benign	Het
Thoc3	A	T	13: 54,615,708 (GRCm39)	S119T	possibly damaging	Het
Tmem176b	A	T	6: 48,812,530 (GRCm39)	I145N	probably damaging	Het
Trio	T	A	15: 27,732,773 (GRCm39)	Q3036L	probably benign	Het
Trpc4	T	C	3: 54,102,132 (GRCm39)	V10A	probably benign	Het
Trpm3	A	G	19: 22,896,124 (GRCm39)	Y987C	probably damaging	Het
Tspoap1	A	G	11: 87,654,394 (GRCm39)	K225E	probably damaging	Het
Txnrd3	A	T	6: 89,638,477 (GRCm39)	Q222L	possibly damaging	Het
Usp34	A	T	11: 23,414,267 (GRCm39)	M2756L		Het
Vmn2r81	C	T	10: 79,129,704 (GRCm39)	T865I	probably damaging	Het
Vnn1	A	G	10: 23,776,714 (GRCm39)	Y355C	probably damaging	Het
Wipf2	A	T	11: 98,783,092 (GRCm39)	S173C	probably damaging	Het
Wnt1	A	T	15: 98,689,624 (GRCm39)	H137L	probably damaging	Het
Xylt2	A	T	11: 94,561,278 (GRCm39)	C162S	probably damaging	Het
Zfp426	T	C	9: 20,387,744 (GRCm39)	E33G	probably damaging	Het
Zfp811	A	C	17: 33,017,801 (GRCm39)	C80G	possibly damaging	Het
Zfp931	T	C	2: 177,709,591 (GRCm39)	H265R	probably damaging	Het
Zfp931	G	A	2: 177,709,592 (GRCm39)	H265Y	probably damaging	Het

Other mutations in Slc28a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slc28a3	APN	13	58,722,114 (GRCm39)	missense	probably benign	0.05
IGL00432:Slc28a3	APN	13	58,717,225 (GRCm39)	splice site	probably null
IGL00553:Slc28a3	APN	13	58,710,823 (GRCm39)	splice site	probably null
IGL01725:Slc28a3	APN	13	58,726,324 (GRCm39)	missense	probably benign	0.30
IGL02068:Slc28a3	APN	13	58,706,411 (GRCm39)	missense	probably damaging	1.00
IGL02270:Slc28a3	APN	13	58,728,398 (GRCm39)	missense	probably benign	0.00
IGL02271:Slc28a3	APN	13	58,706,451 (GRCm39)	missense	probably benign	0.21
IGL02373:Slc28a3	APN	13	58,726,218 (GRCm39)	critical splice donor site	probably null
IGL02542:Slc28a3	APN	13	58,721,284 (GRCm39)	missense	probably damaging	1.00
IGL03242:Slc28a3	APN	13	58,722,063 (GRCm39)	nonsense	probably null
R0256:Slc28a3	UTSW	13	58,721,314 (GRCm39)	missense	probably benign
R0323:Slc28a3	UTSW	13	58,711,866 (GRCm39)	nonsense	probably null
R0391:Slc28a3	UTSW	13	58,717,229 (GRCm39)	splice site	probably benign
R0838:Slc28a3	UTSW	13	58,736,083 (GRCm39)	missense	probably benign	0.00
R1433:Slc28a3	UTSW	13	58,710,920 (GRCm39)	missense	probably damaging	1.00
R1437:Slc28a3	UTSW	13	58,706,389 (GRCm39)	nonsense	probably null
R3499:Slc28a3	UTSW	13	58,721,253 (GRCm39)	splice site	probably benign
R3822:Slc28a3	UTSW	13	58,706,092 (GRCm39)	missense	probably benign	0.00
R3948:Slc28a3	UTSW	13	58,710,824 (GRCm39)	splice site	probably null
R4011:Slc28a3	UTSW	13	58,714,064 (GRCm39)	missense	probably benign	0.06
R4028:Slc28a3	UTSW	13	58,758,570 (GRCm39)	missense	probably benign	0.27
R4073:Slc28a3	UTSW	13	58,707,104 (GRCm39)	missense	probably benign	0.01
R4745:Slc28a3	UTSW	13	58,722,077 (GRCm39)	missense	possibly damaging	0.69
R4939:Slc28a3	UTSW	13	58,706,395 (GRCm39)	missense	probably benign	0.44
R5416:Slc28a3	UTSW	13	58,724,607 (GRCm39)	missense	probably damaging	0.99
R5421:Slc28a3	UTSW	13	58,722,079 (GRCm39)	missense	possibly damaging	0.87
R5426:Slc28a3	UTSW	13	58,710,968 (GRCm39)	missense	probably damaging	1.00
R5688:Slc28a3	UTSW	13	58,706,463 (GRCm39)	missense	probably damaging	0.96
R6066:Slc28a3	UTSW	13	58,726,301 (GRCm39)	missense	probably benign	0.00
R6790:Slc28a3	UTSW	13	58,730,464 (GRCm39)	missense	probably benign	0.00
R6919:Slc28a3	UTSW	13	58,721,257 (GRCm39)	critical splice donor site	probably null
R7009:Slc28a3	UTSW	13	58,758,618 (GRCm39)	missense	probably benign	0.28
R7102:Slc28a3	UTSW	13	58,736,028 (GRCm39)	missense	probably benign	0.04
R7305:Slc28a3	UTSW	13	58,714,045 (GRCm39)	missense	possibly damaging	0.65
R7307:Slc28a3	UTSW	13	58,710,986 (GRCm39)	missense	probably damaging	1.00
R7464:Slc28a3	UTSW	13	58,710,835 (GRCm39)	nonsense	probably null
R7864:Slc28a3	UTSW	13	58,726,217 (GRCm39)	critical splice donor site	probably null
R7963:Slc28a3	UTSW	13	58,724,580 (GRCm39)	missense	probably damaging	1.00
R8477:Slc28a3	UTSW	13	58,724,609 (GRCm39)	missense	possibly damaging	0.60
R8758:Slc28a3	UTSW	13	58,720,424 (GRCm39)	missense	probably benign	0.01
R8833:Slc28a3	UTSW	13	58,707,077 (GRCm39)	missense	probably damaging	1.00
R9127:Slc28a3	UTSW	13	58,724,581 (GRCm39)	missense	probably benign	0.00
R9566:Slc28a3	UTSW	13	58,758,653 (GRCm39)	start gained	probably benign
R9629:Slc28a3	UTSW	13	58,717,187 (GRCm39)	nonsense	probably null
R9789:Slc28a3	UTSW	13	58,724,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATCCTCTTTTCCTGGACGGA -3'
(R):5'- GCATCAGGCAAAGCACATGC -3'

Sequencing Primer
(F):5'- TTTTCCTGGACGGACACACAC -3'
(R):5'- CTCCTAGTAACACTGAGGCAGAG -3'

Posted On

2022-07-18