Mutagenetix > Incidental Mutation

Incidental Mutation 'R7307:Slc28a3'

567336

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 #

R7307 (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 58563172 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 512 (M512K)

Ref Sequence

ENSEMBL: ENSMUSP00000022036 (fasta)

Gene Model

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

AlphaFold

Q9ERH8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022036
AA Change: M512K

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

SMART Domains

Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: M512K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	G	A	16: 17,118,395	P155L	probably benign	Het
Adamts12	G	T	15: 11,217,813	L285F	probably damaging	Het
Ankrd6	A	T	4: 32,816,949	Y393N	possibly damaging	Het
Arhgap45	A	G	10: 80,029,182	Q993R	probably benign	Het
Arhgef33	G	C	17: 80,347,120		probably null	Het
B4galnt3	T	C	6: 120,215,431	D448G	probably benign	Het
Capn1	C	G	19: 5,993,908	E564D	possibly damaging	Het
Ccdc85a	A	G	11: 28,399,384	S474P	probably benign	Het
Cdk12	T	A	11: 98,249,800	L1289*	probably null	Het
Cramp1l	A	T	17: 24,974,745	N920K	possibly damaging	Het
Cubn	C	T	2: 13,340,332	S2091N	probably damaging	Het
Ddx1	A	T	12: 13,223,959	I581N	probably damaging	Het
Dnm2	A	T	9: 21,485,687	N487Y	probably damaging	Het
Enc1	A	C	13: 97,245,093	N37T	probably damaging	Het
Ephb3	T	G	16: 21,222,226	I932S	probably benign	Het
Frk	T	A	10: 34,591,938	M316K	probably damaging	Het
Gdap2	C	T	3: 100,202,033	R25C	unknown	Het
Gm10436	A	C	12: 88,181,749	C32W	probably damaging	Het
Gpat2	T	A	2: 127,434,890	D671E	probably damaging	Het
Gpr179	C	T	11: 97,338,846	E828K	probably benign	Het
Greb1l	T	C	18: 10,538,142	Y1052H	probably damaging	Het
Gtf2f1	C	T	17: 57,007,833	S69N	probably damaging	Het
Hid1	A	C	11: 115,348,482	I785S	probably damaging	Het
Hmcn2	T	C	2: 31,343,081	I214T	probably damaging	Het
Hsd3b5	G	T	3: 98,619,769	F120L	probably damaging	Het
Kif16b	C	T	2: 142,712,931	R649Q	probably benign	Het
Kif17	A	T	4: 138,262,643	E47D	probably benign	Het
Kmt2b	T	C	7: 30,580,471	H1368R	probably damaging	Het
Kmt2d	A	T	15: 98,849,418	S3342T	unknown	Het
Krt82	A	G	15: 101,542,907	C356R	probably damaging	Het
Lrit2	A	G	14: 37,072,199	K407E	probably benign	Het
Malt1	T	A	18: 65,451,569	H325Q	possibly damaging	Het
Mccc2	T	G	13: 99,988,600	D187A	possibly damaging	Het
Mgll	T	A	6: 88,814,121		probably null	Het
Mindy2	T	G	9: 70,610,959	E449A	possibly damaging	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Nlrp4e	A	G	7: 23,321,528	E480G	probably benign	Het
Nup98	A	G	7: 102,134,795	I1093T	probably benign	Het
Olfr1288	A	T	2: 111,478,760		probably benign	Het
Olfr243	G	T	7: 103,716,966	R124L	probably damaging	Het
Olfr350	G	A	2: 36,850,125	M26I	probably benign	Het
Olfr541	G	A	7: 140,705,147	V299I	probably benign	Het
Pcdhb6	A	T	18: 37,335,478	H484L	probably benign	Het
Phldb1	T	C	9: 44,694,047	T604A	possibly damaging	Het
Pitpnm3	G	T	11: 72,070,964	A275D	probably damaging	Het
Polr2a	A	T	11: 69,747,292		probably null	Het
Polr3a	A	G	14: 24,459,987	C960R	probably benign	Het
Pou6f2	G	A	13: 18,239,713	A159V		Het
Pramef6	A	C	4: 143,896,775	Y276*	probably null	Het
Psmc4	A	G	7: 28,042,660	V303A	probably benign	Het
Ptdss2	A	G	7: 141,151,732	N151S	possibly damaging	Het
Ptprk	T	A	10: 28,589,008	Y1295*	probably null	Het
Rbm19	A	G	5: 120,186,218	K881E	possibly damaging	Het
Rcan2	T	A	17: 44,021,102	Y183*	probably null	Het
Rnd1	T	C	15: 98,670,799	E166G	probably damaging	Het
Rnf113a2	T	A	12: 84,418,179	C282S	probably damaging	Het
S100b	G	A	10: 76,257,092	G20R	probably benign	Het
Sae1	G	T	7: 16,368,544	Y168*	probably null	Het
Samd9l	C	A	6: 3,372,600	G1554*	probably null	Het
Samhd1	T	C	2: 157,135,020	S55G	probably benign	Het
Sgsm1	T	C	5: 113,273,646	D525G	probably benign	Het
Slc9b2	T	A	3: 135,318,390	N67K	probably benign	Het
Smarca4	T	A	9: 21,638,800	I402N	probably damaging	Het
St7l	T	C	3: 104,889,353	F261L	probably benign	Het
Syde2	T	A	3: 146,015,798	V1140D	probably damaging	Het
Syt6	T	A	3: 103,587,472	I251N	probably damaging	Het
Taok2	T	C	7: 126,866,818	E916G	probably damaging	Het
Tecta	A	G	9: 42,377,992	S426P	probably damaging	Het
Thra	T	C	11: 98,764,308	I338T	probably damaging	Het
Trub1	A	T	19: 57,472,703	Y137F	probably damaging	Het
Vps13b	T	C	15: 35,841,545	F2574L	probably benign	Het
Ythdf3	T	C	3: 16,183,500	S2P	possibly damaging	Het
Zc3h13	T	A	14: 75,330,541	D1091E	probably damaging	Het
Zdhhc6	A	G	19: 55,313,250	Y100H	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
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
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'- TTGCTACACACCAAGTTACAGTG -3'
(R):5'- TACACTCCTGATACATAAAGATGGGC -3'

Sequencing Primer
(F):5'- AGACATGAAGAATTATACGTACCAAC -3'
(R):5'- TGGGCAACTGAATGTGCC -3'

Posted On

2019-06-26