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

045111-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58701121-58758691 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58758618 bp (GRCm39)

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
4921517D22Rik	G	T	13: 59,838,624 (GRCm39)	D69E	possibly damaging	Het
Abat	A	C	16: 8,420,231 (GRCm39)	M177L	probably benign	Het
Acadvl	A	G	11: 69,905,617 (GRCm39)		probably null	Het
Adam5	T	C	8: 25,296,454 (GRCm39)	N331S	probably benign	Het
Ager	A	G	17: 34,819,710 (GRCm39)	E372G	probably damaging	Het
Angpt1	T	A	15: 42,386,991 (GRCm39)	Q121L	possibly damaging	Het
Apoa4	A	T	9: 46,154,178 (GRCm39)	I260F	possibly damaging	Het
Arhgap32	A	T	9: 32,157,272 (GRCm39)	I90F	probably damaging	Het
Arhgap5	A	T	12: 52,566,422 (GRCm39)	Q1131L	probably benign	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Cacna2d3	A	T	14: 28,691,322 (GRCm39)	M1K	probably null	Het
Ccdc18	G	A	5: 108,321,728 (GRCm39)		probably null	Het
Ccdc42	T	C	11: 68,485,442 (GRCm39)	F267S	probably damaging	Het
Cdh23	T	A	10: 60,173,085 (GRCm39)	Y1700F	probably damaging	Het
Cenpe	A	T	3: 134,940,962 (GRCm39)	S704C	probably damaging	Het
Cenpe	G	A	3: 134,940,963 (GRCm39)	S704N	probably benign	Het
Cfap299	A	T	5: 98,932,379 (GRCm39)	D193V	probably damaging	Het
Cfap54	A	T	10: 92,710,881 (GRCm39)	S2727T	unknown	Het
Clu	T	A	14: 66,209,281 (GRCm39)	V113D	probably damaging	Het
Cnbd2	A	G	2: 156,161,954 (GRCm39)	I98V	probably benign	Het
Copa	G	T	1: 171,918,567 (GRCm39)	R97L	probably damaging	Het
Epb41l1	C	A	2: 156,376,603 (GRCm39)		probably null	Het
Etnk1	T	A	6: 143,148,880 (GRCm39)		probably null	Het
Fnip1	A	T	11: 54,393,761 (GRCm39)	K732N	probably damaging	Het
G6pd2	A	G	5: 61,966,234 (GRCm39)	E3G	probably benign	Het
Gal3st2	A	G	1: 93,801,481 (GRCm39)	T95A	probably benign	Het
Gapvd1	A	G	2: 34,590,829 (GRCm39)	S948P	probably damaging	Het
Ggps1	A	T	13: 14,228,750 (GRCm39)	Y8*	probably null	Het
Gria2	T	C	3: 80,614,279 (GRCm39)	E587G	probably damaging	Het
Hpse	T	C	5: 100,840,145 (GRCm39)	E324G	probably benign	Het
Il16	G	A	7: 83,295,596 (GRCm39)	T493I	probably benign	Het
Ints1	T	C	5: 139,754,217 (GRCm39)	T652A	possibly damaging	Het
Ism1	A	G	2: 139,599,199 (GRCm39)	I391V	probably damaging	Het
Katnb1	A	G	8: 95,825,012 (GRCm39)	D598G	probably damaging	Het
Kif5c	A	G	2: 49,647,441 (GRCm39)	S880G	probably benign	Het
Klra8	T	C	6: 130,102,147 (GRCm39)	N96S	probably benign	Het
Krt79	T	A	15: 101,839,876 (GRCm39)	D373V	probably damaging	Het
Lamtor4	G	A	5: 138,257,374 (GRCm39)	R92Q	probably benign	Het
Lce1d	C	A	3: 92,593,353 (GRCm39)	C20F	unknown	Het
Limk1	T	C	5: 134,701,553 (GRCm39)	T117A	probably benign	Het
Medag	A	T	5: 149,350,708 (GRCm39)	K61M	probably benign	Het
Mkrn3	T	C	7: 62,069,366 (GRCm39)	M142V	probably benign	Het
Mob3c	G	A	4: 115,688,779 (GRCm39)	R104H	probably benign	Het
Morc1	G	T	16: 48,447,433 (GRCm39)	R903L	possibly damaging	Het
Myh6	T	C	14: 55,189,749 (GRCm39)	E1099G	probably damaging	Het
Nphp3	T	G	9: 103,893,315 (GRCm39)	C434G	probably null	Het
Npr3	C	T	15: 11,905,334 (GRCm39)	C131Y	probably damaging	Het
Oacyl	C	A	18: 65,855,609 (GRCm39)	Y112*	probably null	Het
Oprl1	A	G	2: 181,360,174 (GRCm39)	T77A	probably damaging	Het
Osgep	A	G	14: 51,162,165 (GRCm39)	V24A	probably damaging	Het
Otx2	T	A	14: 48,896,254 (GRCm39)	K260M	probably damaging	Het
Pdcd11	T	C	19: 47,101,581 (GRCm39)	L922P	probably benign	Het
Pgap4	A	T	4: 49,586,325 (GRCm39)	M281K	probably benign	Het
Phldb1	A	G	9: 44,605,705 (GRCm39)	V375A	probably damaging	Het
Pip5k1b	C	T	19: 24,337,299 (GRCm39)		probably null	Het
Psmd3	G	A	11: 98,573,592 (GRCm39)	D13N	probably benign	Het
Ptprc	G	A	1: 137,992,291 (GRCm39)	H1140Y	probably damaging	Het
Ranbp3l	A	T	15: 9,063,064 (GRCm39)	H291L	probably damaging	Het
Rasa4	T	A	5: 136,130,217 (GRCm39)	D324E	probably damaging	Het
Rilpl1	T	A	5: 124,641,755 (GRCm39)		silent	Het
Rin2	A	C	2: 145,725,395 (GRCm39)	D794A	probably damaging	Het
Ripk1	A	G	13: 34,214,045 (GRCm39)	I522M	probably damaging	Het
Rnf31	T	C	14: 55,830,008 (GRCm39)	Y143H	probably benign	Het
Rp1	T	G	1: 4,112,291 (GRCm39)	I1187L	unknown	Het
Rps6ka5	G	A	12: 100,585,796 (GRCm39)	H166Y	probably damaging	Het
Rrm1	T	C	7: 102,109,541 (GRCm39)	V455A	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	T	G	9: 119,314,996 (GRCm39)	E1904A	probably damaging	Het
Sec16a	G	T	2: 26,326,014 (GRCm39)	S240*	probably null	Het
Slc22a8	C	T	19: 8,582,781 (GRCm39)	T154I	probably benign	Het
Slc25a16	T	A	10: 62,773,233 (GRCm39)	V156E	possibly damaging	Het
Srd5a3	G	A	5: 76,297,713 (GRCm39)	V48I	probably benign	Het
Srebf1	A	C	11: 60,091,352 (GRCm39)	H1025Q	probably damaging	Het
Stard9	A	G	2: 120,527,672 (GRCm39)	K1310E	probably benign	Het
Swt1	A	G	1: 151,246,381 (GRCm39)	V848A	possibly damaging	Het
Tanc2	A	T	11: 105,731,525 (GRCm39)	T434S	possibly damaging	Het
Tcf20	G	A	15: 82,738,883 (GRCm39)	T856I	probably benign	Het
Tcf7l2	T	C	19: 55,883,165 (GRCm39)		probably null	Het
Trim45	A	G	3: 100,839,195 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,933 (GRCm39)	M44K	possibly damaging	Het
Ttc21a	T	A	9: 119,787,139 (GRCm39)	C715*	probably null	Het
Vmn2r102	G	A	17: 19,914,456 (GRCm39)	V674I	probably damaging	Het
Zfp87	A	G	13: 67,665,173 (GRCm39)	S430P	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
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'- TAACATTCTTGCTGCACCGC -3'
(R):5'- TGAGCATCCCTGGAAAGAGG -3'

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

Posted On

2019-05-13