Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Slc28a3'

426587

Institutional Source

Beutler Lab

Gene Symbol

Slc28a3

Ensembl Gene

ENSMUSG00000021553

Gene Name

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

Synonyms

Cnt3

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58701121-58758691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58722079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 268 (F268L)

Ref Sequence

ENSEMBL: ENSMUSP00000022036 (fasta)

Gene Model

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

AlphaFold

Q9ERH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022036
AA Change: F268L

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: F268L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224906

Coding Region Coverage

1x: 99.2%
3x: 98.5%
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.] 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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	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
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
R8987:Slc28a3	UTSW	13	58,719,254 (GRCm39)	splice site	probably benign
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'- GTCCTGAGGGCTACATCCAAATG -3'
(R):5'- CTACAATCTAAAGGGGTCTGTTGC -3'

Sequencing Primer
(F):5'- TGAGGGCTACATCCAAATGTTAAAAG -3'
(R):5'- GCAATTTTTGAAAGCTTAGCCCC -3'

Posted On

2016-09-01