Mutagenetix > Incidental Mutation

Incidental Mutation 'R7009:Slc28a3'

544925

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58545399-58610877 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58610804 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2 (S2T)

Ref Sequence

ENSEMBL: ENSMUSP00000022036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022036] [ENSMUST00000148396]

AlphaFold

Q9ERH8

Predicted Effect

probably benign
Transcript: ENSMUST00000022036
AA Change: S2T

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: S2T

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

probably benign
Transcript: ENSMUST00000148396
AA Change: S2T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	A	T	5: 98,784,520	D193V	probably damaging	Het
4921517D22Rik	G	T	13: 59,690,810	D69E	possibly damaging	Het
Abat	A	C	16: 8,602,367	M177L	probably benign	Het
Acadvl	A	G	11: 70,014,791		probably null	Het
Adam5	T	C	8: 24,806,438	N331S	probably benign	Het
Ager	A	G	17: 34,600,736	E372G	probably damaging	Het
Angpt1	T	A	15: 42,523,595	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,242,880	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,245,976	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,519,639	Q1131L	probably benign	Het
Bach1	G	A	16: 87,719,291	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,969,365	M1K	probably null	Het
Ccdc18	G	A	5: 108,173,862		probably null	Het
Ccdc42	T	C	11: 68,594,616	F267S	probably damaging	Het
Cdh23	T	A	10: 60,337,306	Y1700F	probably damaging	Het
Cenpe	A	T	3: 135,235,201	S704C	probably damaging	Het
Cenpe	G	A	3: 135,235,202	S704N	probably benign	Het
Cfap54	A	T	10: 92,875,019	S2727T	unknown	Het
Clu	T	A	14: 65,971,832	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,320,034	I98V	probably benign	Het
Copa	G	T	1: 172,091,000	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,534,683		probably null	Het
Etnk1	T	A	6: 143,203,154		probably null	Het
Fnip1	A	T	11: 54,502,935	K732N	probably damaging	Het
G6pd2	A	G	5: 61,808,891	E3G	probably benign	Het
Gal3st2	A	G	1: 93,873,759	T95A	probably benign	Het
Gapvd1	A	G	2: 34,700,817	S948P	probably damaging	Het
Ggps1	A	T	13: 14,054,165	Y8*	probably null	Het
Gria2	T	C	3: 80,706,972	E587G	probably damaging	Het
Hpse	T	C	5: 100,692,279	E324G	probably benign	Het
Il16	G	A	7: 83,646,388	T493I	probably benign	Het
Ints1	T	C	5: 139,768,462	T652A	possibly damaging	Het
Ism1	A	G	2: 139,757,279	I391V	probably damaging	Het
Katnb1	A	G	8: 95,098,384	D598G	probably damaging	Het
Kif5c	A	G	2: 49,757,429	S880G	probably benign	Het
Klra8	T	C	6: 130,125,184	N96S	probably benign	Het
Krt79	T	A	15: 101,931,441	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,259,112	R92Q	probably benign	Het
Lce1d	C	A	3: 92,686,046	C20F	unknown	Het
Limk1	T	C	5: 134,672,699	T117A	probably benign	Het
Medag	A	T	5: 149,427,243	K61M	probably benign	Het
Mkrn3	T	C	7: 62,419,618	M142V	probably benign	Het
Mob3c	G	A	4: 115,831,582	R104H	probably benign	Het
Morc1	G	T	16: 48,627,070	R903L	possibly damaging	Het
Myh6	T	C	14: 54,952,292	E1099G	probably damaging	Het
Nphp3	T	G	9: 104,016,116	C434G	probably null	Het
Npr3	C	T	15: 11,905,248	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,722,538	Y112*	probably null	Het
Oprl1	A	G	2: 181,718,381	T77A	probably damaging	Het
Osgep	A	G	14: 50,924,708	V24A	probably damaging	Het
Otx2	T	A	14: 48,658,797	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,113,142	L922P	probably benign	Het
Phldb1	A	G	9: 44,694,408	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,359,935		probably null	Het
Psmd3	G	A	11: 98,682,766	D13N	probably benign	Het
Ptprc	G	A	1: 138,064,553	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,062,984	H291L	probably damaging	Het
Rasa4	T	A	5: 136,101,363	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,503,692		silent	Het
Rin2	A	C	2: 145,883,475	D794A	probably damaging	Het
Ripk1	A	G	13: 34,030,062	I522M	probably damaging	Het
Rnf31	T	C	14: 55,592,551	Y143H	probably benign	Het
Rp1	T	G	1: 4,042,068	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,619,537	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,460,334	V455A	probably damaging	Het
Runx2	G	A	17: 44,814,192	P80L	probably damaging	Het
Scn5a	T	G	9: 119,485,930	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,436,002	S240*	probably null	Het
Slc22a8	C	T	19: 8,605,417	T154I	probably benign	Het
Slc25a16	T	A	10: 62,937,454	V156E	possibly damaging	Het
Srd5a3	G	A	5: 76,149,866	V48I	probably benign	Het
Srebf1	A	C	11: 60,200,526	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,697,191	K1310E	probably benign	Het
Swt1	A	G	1: 151,370,630	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,840,699	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,854,682	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,894,733		probably null	Het
Tmem246	A	T	4: 49,586,325	M281K	probably benign	Het
Trim45	A	G	3: 100,931,879		probably benign	Het
Tsen2	T	A	6: 115,547,972	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,958,073	C715*	probably null	Het
Vmn2r102	G	A	17: 19,694,194	V674I	probably damaging	Het
Zfp87	A	G	13: 67,517,054	S430P	probably damaging	Het

Other mutations in Slc28a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slc28a3	APN	13	58574300	missense	probably benign	0.05
IGL00432:Slc28a3	APN	13	58569411	splice site	probably null
IGL00553:Slc28a3	APN	13	58563009	splice site	probably null
IGL01725:Slc28a3	APN	13	58578510	missense	probably benign	0.30
IGL02068:Slc28a3	APN	13	58558597	missense	probably damaging	1.00
IGL02270:Slc28a3	APN	13	58580584	missense	probably benign	0.00
IGL02271:Slc28a3	APN	13	58558637	missense	probably benign	0.21
IGL02373:Slc28a3	APN	13	58578404	critical splice donor site	probably null
IGL02542:Slc28a3	APN	13	58573470	missense	probably damaging	1.00
IGL03242:Slc28a3	APN	13	58574249	nonsense	probably null
R0256:Slc28a3	UTSW	13	58573500	missense	probably benign
R0323:Slc28a3	UTSW	13	58564052	nonsense	probably null
R0391:Slc28a3	UTSW	13	58569415	splice site	probably benign
R0838:Slc28a3	UTSW	13	58588269	missense	probably benign	0.00
R1433:Slc28a3	UTSW	13	58563106	missense	probably damaging	1.00
R1437:Slc28a3	UTSW	13	58558575	nonsense	probably null
R3499:Slc28a3	UTSW	13	58573439	splice site	probably benign
R3822:Slc28a3	UTSW	13	58558278	missense	probably benign	0.00
R3948:Slc28a3	UTSW	13	58563010	splice site	probably null
R4011:Slc28a3	UTSW	13	58566250	missense	probably benign	0.06
R4028:Slc28a3	UTSW	13	58610756	missense	probably benign	0.27
R4073:Slc28a3	UTSW	13	58559290	missense	probably benign	0.01
R4745:Slc28a3	UTSW	13	58574263	missense	possibly damaging	0.69
R4939:Slc28a3	UTSW	13	58558581	missense	probably benign	0.44
R5416:Slc28a3	UTSW	13	58576793	missense	probably damaging	0.99
R5421:Slc28a3	UTSW	13	58574265	missense	possibly damaging	0.87
R5426:Slc28a3	UTSW	13	58563154	missense	probably damaging	1.00
R5688:Slc28a3	UTSW	13	58558649	missense	probably damaging	0.96
R6066:Slc28a3	UTSW	13	58578487	missense	probably benign	0.00
R6790:Slc28a3	UTSW	13	58582650	missense	probably benign	0.00
R6919:Slc28a3	UTSW	13	58573443	critical splice donor site	probably null
R7102:Slc28a3	UTSW	13	58588214	missense	probably benign	0.04
R7305:Slc28a3	UTSW	13	58566231	missense	possibly damaging	0.65
R7307:Slc28a3	UTSW	13	58563172	missense	probably damaging	1.00
R7464:Slc28a3	UTSW	13	58563021	nonsense	probably null
R7864:Slc28a3	UTSW	13	58578403	critical splice donor site	probably null
R7963:Slc28a3	UTSW	13	58576766	missense	probably damaging	1.00
R8477:Slc28a3	UTSW	13	58576795	missense	possibly damaging	0.60
R8758:Slc28a3	UTSW	13	58572610	missense	probably benign	0.01
R8833:Slc28a3	UTSW	13	58559263	missense	probably damaging	1.00
R8987:Slc28a3	UTSW	13	58571440	splice site	probably benign
R9127:Slc28a3	UTSW	13	58576767	missense	probably benign	0.00
R9566:Slc28a3	UTSW	13	58610839	start gained	probably benign
R9629:Slc28a3	UTSW	13	58569373	nonsense	probably null
R9789:Slc28a3	UTSW	13	58576850	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TAACATTCTTGCTGCACCGC -3'
(R):5'- TGAGCATCCCTGGAAAGAGG -3'

Sequencing Primer
(F):5'- GCTCTGCTAGGCTCTCTTAAC -3'
(R):5'- GCGTGCTCAAAAAGAGGCCTC -3'

Posted On

2019-05-13