Mutagenetix > Incidental Mutation

Incidental Mutation 'R6919:Slc28a3'

539528

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

045039-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6919 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58701121-58758691 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 58721257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000022036 (fasta)

Gene Model

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

AlphaFold

Q9ERH8

Predicted Effect

probably null
Transcript: ENSMUST00000022036

SMART Domains

Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

99% (84/85)

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
1700086D15Rik	A	G	11: 65,043,356 (GRCm39)		probably benign	Het
6430548M08Rik	T	C	8: 120,872,221 (GRCm39)	S50P	probably damaging	Het
Aacs	A	G	5: 125,583,227 (GRCm39)	D261G	probably benign	Het
Abcc4	T	A	14: 118,832,306 (GRCm39)	T775S	probably benign	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Agbl5	T	A	5: 31,062,061 (GRCm39)	F196I	probably benign	Het
Ahnak2	T	C	12: 112,741,118 (GRCm39)	T985A	possibly damaging	Het
Ak1	A	T	2: 32,521,134 (GRCm39)	D101V	possibly damaging	Het
Alx1	A	G	10: 102,861,061 (GRCm39)	Y156H	probably damaging	Het
Angptl7	T	A	4: 148,584,488 (GRCm39)	S87C	probably benign	Het
Ankrd36	A	G	11: 5,579,299 (GRCm39)	T188A	probably benign	Het
Arhgap11a	A	C	2: 113,670,054 (GRCm39)	S356R	possibly damaging	Het
Ascc3	G	T	10: 50,521,849 (GRCm39)	E455*	probably null	Het
Atp6v0a2	G	A	5: 124,789,225 (GRCm39)		probably null	Het
B3gnt7	T	C	1: 86,233,416 (GRCm39)	W104R	probably damaging	Het
Bbs9	G	A	9: 22,723,840 (GRCm39)		probably null	Het
Cc2d2a	T	A	5: 43,860,557 (GRCm39)	D544E	probably benign	Het
Cic	C	T	7: 24,971,202 (GRCm39)	T311I	probably benign	Het
Cngb1	T	A	8: 95,975,003 (GRCm39)	R1157W	probably null	Het
Cntln	A	G	4: 85,033,605 (GRCm39)	H1310R	probably benign	Het
Cntnap5c	A	T	17: 58,600,948 (GRCm39)	I764F	probably benign	Het
Col26a1	T	C	5: 136,773,088 (GRCm39)	Q362R	possibly damaging	Het
Cyp2c29	G	A	19: 39,279,585 (GRCm39)	R100K	probably benign	Het
D17H6S53E	C	G	17: 35,346,222 (GRCm39)	D44E	probably damaging	Het
Dap3	A	G	3: 88,838,296 (GRCm39)	V65A	probably damaging	Het
Dna2	A	T	10: 62,792,782 (GRCm39)	I266F	probably damaging	Het
Dnah14	G	A	1: 181,412,631 (GRCm39)	G57E	probably benign	Het
Dock9	A	T	14: 121,880,564 (GRCm39)	V333E	probably benign	Het
Dpm1	A	G	2: 168,072,195 (GRCm39)	Y27H	probably damaging	Het
Dsp	A	T	13: 38,351,631 (GRCm39)	Y150F	possibly damaging	Het
Emilin3	A	T	2: 160,750,018 (GRCm39)	I577N	probably damaging	Het
Erap1	A	G	13: 74,819,552 (GRCm39)	T189A	probably benign	Het
Fat2	A	G	11: 55,173,597 (GRCm39)	I2372T	possibly damaging	Het
Fbn2	A	T	18: 58,257,259 (GRCm39)		probably null	Het
Gnl1	A	T	17: 36,298,425 (GRCm39)	R390*	probably null	Het
Hivep1	A	G	13: 42,336,928 (GRCm39)	I2336V	probably benign	Het
Il17rb	C	G	14: 29,726,228 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,716,883 (GRCm39)	W396R	probably damaging	Het
Katnal2	A	G	18: 77,098,734 (GRCm39)	V152A	probably benign	Het
Kcnk3	A	G	5: 30,779,744 (GRCm39)	T265A	probably benign	Het
Klhl1	T	C	14: 96,374,030 (GRCm39)	Y672C	probably benign	Het
Leng8	C	A	7: 4,146,625 (GRCm39)	N412K	possibly damaging	Het
Lrrc9	T	A	12: 72,553,167 (GRCm39)	F1356L	probably benign	Het
Map7	A	G	10: 20,046,828 (GRCm39)		probably benign	Het
Mei1	T	C	15: 81,966,131 (GRCm39)	F251S	probably damaging	Het
Mia2	A	G	12: 59,176,681 (GRCm39)	E9G	possibly damaging	Het
Ms4a13	C	A	19: 11,149,249 (GRCm39)	W182C	probably benign	Het
Muc16	C	T	9: 18,571,595 (GRCm39)	R308K	unknown	Het
Or4c103	G	A	2: 88,514,028 (GRCm39)	T16I	possibly damaging	Het
Or8g22	A	G	9: 38,958,827 (GRCm39)		probably benign	Het
Pcnt	A	G	10: 76,221,632 (GRCm39)	V1998A	probably benign	Het
Pgm2	A	T	5: 64,254,368 (GRCm39)	N51I	probably benign	Het
Piezo1	T	A	8: 123,217,020 (GRCm39)	H1333L	probably damaging	Het
Prg2	G	A	2: 84,813,600 (GRCm39)	V199M	probably damaging	Het
Prss51	T	C	14: 64,334,937 (GRCm39)	V182A	probably damaging	Het
Psmb9	A	T	17: 34,402,199 (GRCm39)	Y132*	probably null	Het
Ralyl	T	C	3: 13,842,091 (GRCm39)	Y76H	probably damaging	Het
Rnaset2a	A	T	17: 8,349,114 (GRCm39)	D174E	probably benign	Het
Rnft1	G	A	11: 86,386,156 (GRCm39)		probably null	Het
Robo2	T	C	16: 73,758,755 (GRCm39)	Y676C	probably damaging	Het
Samd9l	T	G	6: 3,376,313 (GRCm39)	Y316S	possibly damaging	Het
Siah3	T	A	14: 75,693,578 (GRCm39)	F28Y	possibly damaging	Het
Slc8a1	A	G	17: 81,696,301 (GRCm39)	F911S	probably damaging	Het
Spata31e2	T	C	1: 26,722,015 (GRCm39)	Y1055C	probably benign	Het
Speg	T	A	1: 75,364,552 (GRCm39)	L156*	probably null	Het
Spopl	T	G	2: 23,407,873 (GRCm39)	M269L	probably benign	Het
Tacr1	C	T	6: 82,534,054 (GRCm39)	T360I	probably benign	Het
Tasor	T	A	14: 27,171,758 (GRCm39)	L397*	probably null	Het
Tmem262	A	G	19: 6,130,767 (GRCm39)	E95G	probably benign	Het
Tmem68	G	T	4: 3,569,669 (GRCm39)	T7N	possibly damaging	Het
Top3a	T	A	11: 60,640,319 (GRCm39)	I460F	probably damaging	Het
Trafd1	G	A	5: 121,522,137 (GRCm39)	R5*	probably null	Het
Trim16	T	A	11: 62,731,695 (GRCm39)	V435D	possibly damaging	Het
Tspan17	A	G	13: 54,943,846 (GRCm39)	D236G	probably damaging	Het
Tssk2	A	T	16: 17,717,565 (GRCm39)	M323L	probably benign	Het
Ubqln5	A	G	7: 103,778,215 (GRCm39)	V203A	probably benign	Het
Utrn	A	T	10: 12,569,214 (GRCm39)	L1134*	probably null	Het
Vmn1r37	C	T	6: 66,708,704 (GRCm39)	S73F	possibly damaging	Het
Vps13c	A	G	9: 67,834,734 (GRCm39)	K1688E	probably damaging	Het
Zbtb39	A	G	10: 127,577,711 (GRCm39)	D95G	probably damaging	Het
Zfhx3	T	A	8: 109,527,160 (GRCm39)	I1019N	probably damaging	Het
Zfp207	C	T	11: 80,286,329 (GRCm39)		probably benign	Het
Zmiz1	C	T	14: 25,644,062 (GRCm39)	T169M	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
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'- CTGACGTTACAGGTCCTTCC -3'
(R):5'- AATCTCTCAGGGTGGCTCAG -3'

Sequencing Primer
(F):5'- GACGTTACAGGTCCTTCCTCAGAG -3'
(R):5'- CAGGGTGGCTCAGGTTCCTTC -3'

Posted On

2018-11-06