Mutagenetix > Incidental Mutations

Incidental Mutation 'R5688:Slc28a3'

501291

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

043321-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58545399-58610877 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58558649 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 593 (S593T)

Ref Sequence

ENSEMBL: ENSMUSP00000022036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022036] [ENSMUST00000140760]

Predicted Effect

probably damaging
Transcript: ENSMUST00000022036
AA Change: S593T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: S593T

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: ENSMUST00000140760

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	T	A	7: 34,253,991	T449S	possibly damaging	Het
4931406P16Rik	T	G	7: 34,284,709	D163A	probably damaging	Het
Acp7	G	A	7: 28,616,495	A222V	probably benign	Het
Ahnak	A	G	19: 9,002,519	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,501,925	S559T	possibly damaging	Het
Alms1	T	A	6: 85,599,895	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868		probably null	Het
Atf7	C	T	15: 102,551,509	R57H	probably damaging	Het
Atp10b	A	T	11: 43,201,173	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,358,952	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730		probably null	Het
Cd248	A	G	19: 5,069,935	T604A	probably benign	Het
Cemip	C	T	7: 83,961,641	V702M	probably damaging	Het
Cep295	G	T	9: 15,331,986	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,422	W485R	probably damaging	Het
Cpe	T	C	8: 64,609,155	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,345,121	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,217,911	S531P	probably benign	Het
Defb7	T	G	8: 19,495,151	L15R	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Ednrb	T	C	14: 103,823,395	D198G	probably damaging	Het
Engase	A	C	11: 118,487,320	E312A	possibly damaging	Het
Evl	G	A	12: 108,673,353		probably null	Het
Faf1	C	A	4: 109,794,813	Q234K	probably damaging	Het
Gm5460	C	A	14: 34,045,795	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,000,607	I387F	possibly damaging	Het
Hagh	T	C	17: 24,850,594	M1T	probably null	Het
Hars	A	T	18: 36,772,316	V155E	probably damaging	Het
Hist1h1c	A	G	13: 23,739,165	K106R	probably damaging	Het
Lca5	C	A	9: 83,398,566	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,791,410	L280P	probably damaging	Het
Lrit1	C	T	14: 37,062,428	A571V	possibly damaging	Het
Map4k2	C	A	19: 6,346,806	P584H	probably damaging	Het
Mgst1	T	C	6: 138,141,800		probably benign	Het
Neb	C	T	2: 52,196,327	V5245I	probably damaging	Het
Oas3	T	C	5: 120,758,802	N918S	probably benign	Het
Olfr1155	T	A	2: 87,943,208	Q140L	probably benign	Het
Olfr1204	C	T	2: 88,852,679	T243I	probably benign	Het
Olfr145	A	C	9: 37,898,063	I220L	possibly damaging	Het
Ovch2	A	G	7: 107,793,994	L224P	probably damaging	Het
Patj	A	T	4: 98,520,810	K34*	probably null	Het
Pcf11	T	A	7: 92,658,808	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,335,480	E577D	probably benign	Het
Plxnb2	T	C	15: 89,158,696	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,353,540	L141I	probably damaging	Het
Rhobtb3	G	T	13: 75,872,418	N588K	probably benign	Het
Rnasel	G	A	1: 153,753,706		probably benign	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Shank1	A	T	7: 44,354,487	I1868F	possibly damaging	Het
Skiv2l2	A	T	13: 112,873,056	C936*	probably null	Het
Slc29a4	T	C	5: 142,714,098	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,591,038	P502L	probably benign	Het
Slco6d1	T	C	1: 98,480,768	I463T	probably damaging	Het
Slk	A	G	19: 47,620,012	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,726,508	P1071Q	probably damaging	Het
Tert	G	A	13: 73,639,156	V754I	probably damaging	Het
Thada	T	C	17: 84,451,727	T235A	probably benign	Het
Ttn	T	C	2: 76,734,128	D28555G	probably damaging	Het
Ttn	T	A	2: 76,879,984		probably null	Het
Ubqln4	T	C	3: 88,565,268	L464P	probably damaging	Het
Unc45b	A	T	11: 82,922,817	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,940,692	D672G	probably benign	Het
Zfp947	T	A	17: 22,146,085	I203L	probably benign	Het
Zfp964	T	A	8: 69,664,116	H454Q	probably benign	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
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
R7009:Slc28a3	UTSW	13	58610804	missense	probably benign	0.28
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

Predicted Primers

PCR Primer
(F):5'- GAGTGCCGTTTGCTGTCATC -3'
(R):5'- AACCCTTTGGCTTTGCTGTG -3'

Sequencing Primer
(F):5'- GCTGTCATCATTTAACGAGATCCCAG -3'
(R):5'- CTGTGTTCTCTGTGCTCTGCG -3'

Posted On

2017-12-01