Mutagenetix > Incidental Mutation

Incidental Mutation 'R9629:Slc28a3'

725381

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 #

R9629 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58701121-58758691 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 58717187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 366 (Y366*)

Ref Sequence

ENSEMBL: ENSMUSP00000022036 (fasta)

Gene Model

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

AlphaFold

Q9ERH8

Predicted Effect

probably null
Transcript: ENSMUST00000022036
AA Change: Y366*

SMART Domains

Protein: ENSMUSP00000022036
Gene: ENSMUSG00000021553
AA Change: Y366*

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: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,532,134 (GRCm39)	E147G	probably damaging	Het
Agrn	G	A	4: 156,257,094 (GRCm39)	Q1217*	probably null	Het
Ankrd13c	G	C	3: 157,653,313 (GRCm39)	K50N	probably benign	Het
Anks3	C	T	16: 4,775,565 (GRCm39)	S144N	probably damaging	Het
Apob	A	T	12: 8,059,054 (GRCm39)	D2512V	probably damaging	Het
Arhgap45	A	G	10: 79,863,694 (GRCm39)	K815E	probably damaging	Het
Atr	T	A	9: 95,747,098 (GRCm39)	C127S	probably benign	Het
B4galnt4	A	G	7: 140,648,575 (GRCm39)	D697G	probably damaging	Het
C2cd3	C	T	7: 100,029,249 (GRCm39)	L134F	probably damaging	Het
Celsr2	C	T	3: 108,308,915 (GRCm39)	G1697D	probably damaging	Het
Cep170	A	G	1: 176,583,821 (GRCm39)	S88P	possibly damaging	Het
Cnot1	A	G	8: 96,455,874 (GRCm39)	V1961A	probably damaging	Het
Cntnap4	A	G	8: 113,568,349 (GRCm39)	N795S	probably damaging	Het
Cog2	T	A	8: 125,260,125 (GRCm39)	V256D	possibly damaging	Het
Col14a1	A	G	15: 55,382,545 (GRCm39)	Y515C		Het
Cox7a1	A	G	7: 29,884,583 (GRCm39)	Q30R	probably damaging	Het
Cs	T	C	10: 128,196,885 (GRCm39)	S427P	probably damaging	Het
Dbr1	T	A	9: 99,464,523 (GRCm39)	C101S		Het
Dhcr7	C	A	7: 143,401,212 (GRCm39)	Y461*	probably null	Het
Dis3l2	T	A	1: 86,974,784 (GRCm39)	M691K	probably benign	Het
Dnah17	T	C	11: 117,979,804 (GRCm39)	D1751G	probably damaging	Het
Dock10	A	T	1: 80,481,389 (GRCm39)	I536K		Het
Dok6	G	T	18: 89,491,988 (GRCm39)	F196L	possibly damaging	Het
Epx	C	T	11: 87,755,651 (GRCm39)	D678N	probably damaging	Het
Fcrlb	G	C	1: 170,739,735 (GRCm39)	P56A	probably benign	Het
Flrt3	T	C	2: 140,502,816 (GRCm39)	R271G	possibly damaging	Het
Galnt15	T	A	14: 31,774,301 (GRCm39)	L479Q	probably damaging	Het
Gfy	G	A	7: 44,827,785 (GRCm39)	L104F	probably benign	Het
Gltp	C	T	5: 114,814,382 (GRCm39)	M80I	probably benign	Het
Gm21560	G	A	14: 6,218,250 (GRCm38)	T76I	probably benign	Het
Gm5150	A	G	3: 16,044,829 (GRCm39)	I132T	probably benign	Het
Hdac9	T	C	12: 34,439,389 (GRCm39)	H437R	probably damaging	Het
Hpgd	C	A	8: 56,751,419 (GRCm39)	F82L		Het
Ifi207	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	GAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGACTATTGGATGGTGTTGATAGAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGAT	1: 173,556,561 (GRCm39)		probably benign	Het
Ilrun	A	T	17: 28,012,913 (GRCm39)	F95I	probably damaging	Het
Itgb5	C	T	16: 33,696,295 (GRCm39)	T162I	probably damaging	Het
Jakmip3	G	A	7: 138,625,118 (GRCm39)		probably null	Het
Kctd1	A	T	18: 15,196,611 (GRCm39)	M4K	unknown	Het
Kirrel1	C	A	3: 87,003,025 (GRCm39)	E123*	probably null	Het
Krt87	G	C	15: 101,389,048 (GRCm39)	P95A	probably benign	Het
Man1a	A	T	10: 53,796,158 (GRCm39)	H511Q	probably damaging	Het
Megf8	A	G	7: 25,043,194 (GRCm39)	D1372G	possibly damaging	Het
Mrgprd	A	G	7: 144,875,189 (GRCm39)	D20G	probably benign	Het
Mrpl54	C	T	10: 81,101,528 (GRCm39)	G78S	probably damaging	Het
Myl1	T	A	1: 66,969,448 (GRCm39)	E61D	probably benign	Het
Myo7a	G	T	7: 97,712,937 (GRCm39)	H1679Q	probably benign	Het
Naca	A	G	10: 127,878,226 (GRCm39)	E1086G	unknown	Het
Nagpa	C	G	16: 5,017,829 (GRCm39)	D258H	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nr2f6	G	A	8: 71,827,171 (GRCm39)	L377F	probably damaging	Het
Ntsr1	G	A	2: 180,183,274 (GRCm39)	R328H	probably damaging	Het
Nup93	G	A	8: 95,033,267 (GRCm39)	S592N	probably damaging	Het
Or10a2	A	T	7: 106,673,164 (GRCm39)	N43I	probably damaging	Het
Or4k40	T	A	2: 111,251,137 (GRCm39)	H53L	probably benign	Het
Or8g36	T	C	9: 39,422,497 (GRCm39)	D173G	probably benign	Het
Pard3	T	C	8: 128,136,153 (GRCm39)	V842A	possibly damaging	Het
Phospho2	T	A	2: 69,626,295 (GRCm39)	N150K	probably damaging	Het
Piwil1	T	C	5: 128,831,051 (GRCm39)	S791P	probably damaging	Het
Pkhd1	A	G	1: 20,462,437 (GRCm39)	V2039A	possibly damaging	Het
Ppp1r3c	A	G	19: 36,711,404 (GRCm39)	I122T	probably benign	Het
Prrc2c	A	G	1: 162,519,959 (GRCm39)	Y2131H	possibly damaging	Het
Qtrt2	T	C	16: 43,683,540 (GRCm39)	M311V	possibly damaging	Het
Rbbp4	T	C	4: 129,212,243 (GRCm39)	D346G	probably damaging	Het
Slc13a5	A	G	11: 72,138,578 (GRCm39)	I455T	probably damaging	Het
Srgap1	T	A	10: 121,705,746 (GRCm39)	Q226L	probably benign	Het
Syt17	A	G	7: 118,007,379 (GRCm39)	V362A	probably damaging	Het
Tas2r117	T	C	6: 132,780,374 (GRCm39)	S171P	probably benign	Het
Tfap2b	A	T	1: 19,289,468 (GRCm39)	I198F	probably damaging	Het
Tg	A	T	15: 66,555,587 (GRCm39)	I760F	possibly damaging	Het
Tmem123	T	C	9: 7,790,984 (GRCm39)	V95A	possibly damaging	Het
Tmem198b	C	A	10: 128,638,386 (GRCm39)	G59V	probably damaging	Het
Tmem30c	T	G	16: 57,096,585 (GRCm39)	I179L	probably benign	Het
Tmprss2	A	T	16: 97,369,702 (GRCm39)	D357E	probably benign	Het
Tns3	G	A	11: 8,401,142 (GRCm39)	T1052M	possibly damaging	Het
Trex1	A	T	9: 108,887,632 (GRCm39)	C120S	probably damaging	Het
Ttc8	A	G	12: 98,886,965 (GRCm39)	S13G	possibly damaging	Het
Ttll7	T	C	3: 146,621,487 (GRCm39)	I362T	probably damaging	Het
Usp34	A	T	11: 23,314,364 (GRCm39)	T769S		Het
Vmn1r185	G	T	7: 26,311,439 (GRCm39)	T22K	probably damaging	Het
Vmn1r39	T	G	6: 66,781,578 (GRCm39)	M247L	probably benign	Het
Vmn2r96	A	G	17: 18,803,257 (GRCm39)	D389G	probably benign	Het
Xirp1	C	T	9: 119,846,379 (GRCm39)	V835I	probably benign	Het
Ylpm1	T	G	12: 85,044,036 (GRCm39)	I258S	unknown	Het
Zfp971	A	T	2: 177,675,417 (GRCm39)	S339C	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
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
R9789:Slc28a3	UTSW	13	58,724,664 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGTCACTTCCAGTCAGCAAC -3'
(R):5'- GCACCTTTAGAATTTCCAATTCCAC -3'

Sequencing Primer
(F):5'- CTCACAGTCAGCTATTGGATGGATC -3'
(R):5'- CAATTCCACTTGGAGACTTTGTG -3'

Posted On

2022-09-12