Mutagenetix > Incidental Mutations

Incidental Mutation 'R1777:Slc29a1'

197178

Institutional Source

Beutler Lab

Gene Symbol

Slc29a1

Ensembl Gene

ENSMUSG00000023942

Gene Name

solute carrier family 29 (nucleoside transporters), member 1

Synonyms

ENT1, 1200014D21Rik, NBMPR-sensitive equilibrative nucleoside transporter

MMRRC Submission

039808-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45585200-45599606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45587308 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 325 (Y325H)

Ref Sequence

ENSEMBL: ENSMUSP00000126703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051574] [ENSMUST00000064889] [ENSMUST00000097317] [ENSMUST00000163492] [ENSMUST00000163905] [ENSMUST00000164217] [ENSMUST00000164618] [ENSMUST00000164769] [ENSMUST00000166119] [ENSMUST00000166633] [ENSMUST00000167195] [ENSMUST00000167692] [ENSMUST00000171847] [ENSMUST00000172301] [ENSMUST00000168274] [ENSMUST00000169729] [ENSMUST00000170488] [ENSMUST00000167332] [ENSMUST00000171081] [ENSMUST00000170113]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051574
AA Change: Y327H

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

SMART Domains

Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: Y327H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000064889
AA Change: Y325H

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

SMART Domains

Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: Y325H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	456	2.1e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000087588

Predicted Effect

probably damaging
Transcript: ENSMUST00000097317
AA Change: Y327H

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

SMART Domains

Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: Y327H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000163492
AA Change: Y325H

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

SMART Domains

Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: Y325H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	456	2.1e-130	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163905

SMART Domains

Protein: ENSMUSP00000129240
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
transmembrane domain	109	130	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164217

SMART Domains

Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	262	8.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164618

SMART Domains

Protein: ENSMUSP00000126934
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC
transmembrane domain	109	130	N/A	INTRINSIC
transmembrane domain	135	157	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000164769
AA Change: Y327H

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

SMART Domains

Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: Y327H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	358	2.7e-81	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166119
AA Change: Y327H

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

SMART Domains

Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: Y327H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166633

SMART Domains

Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	195	1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167195

SMART Domains

Protein: ENSMUSP00000133162
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	48	70	N/A	INTRINSIC
transmembrane domain	77	98	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000167692
AA Change: Y327H

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

SMART Domains

Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: Y327H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	458	4.5e-131	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000171847
AA Change: Y325H

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

SMART Domains

Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: Y325H

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	456	2.1e-130	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167748

Predicted Effect

probably benign
Transcript: ENSMUST00000172301

SMART Domains

Protein: ENSMUSP00000129345
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	80	102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168274

Predicted Effect

probably benign
Transcript: ENSMUST00000169729

SMART Domains

Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170488

Predicted Effect

probably benign
Transcript: ENSMUST00000167332

SMART Domains

Protein: ENSMUSP00000131483
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171081

SMART Domains

Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
transmembrane domain	76	98	N/A	INTRINSIC
transmembrane domain	110	132	N/A	INTRINSIC
Pfam:Nucleoside_tran	144	262	8.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170113

SMART Domains

Protein: ENSMUSP00000128304
Gene: ENSMUSG00000023942

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the equilibrative nucleoside transporter family. The gene encodes a transmembrane glycoprotein that localizes to the plasma and mitochondrial membranes and mediates the cellular uptake of nucleosides from the surrounding medium. The protein is categorized as an equilibrative (as opposed to concentrative) transporter that is sensitive to inhibition by nitrobenzylthioinosine (NBMPR). Nucleoside transporters are required for nucleotide synthesis in cells that lack de novo nucleoside synthesis pathways, and are also necessary for the uptake of cytotoxic nucleosides used for cancer and viral chemotherapies. Multiple alternatively spliced variants, encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null allele exhibit a slightly decreased body weight, increased alcohol preference and alcohol consumption, and reduced hypnotic and ataxic responses to ethanol associated with a reduction in adenosine tone. Adenosine uptake is almost completely abolished in mice homozygous for a knock-out allele. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930444P10Rik	T	A	1: 16,078,589	D111V	possibly damaging	Het
Ap2a1	G	A	7: 44,904,152	T597M	probably damaging	Het
Arhgap25	A	G	6: 87,463,307	S364P	probably benign	Het
Atp6v1a	G	T	16: 44,114,705	Y40*	probably null	Het
Cdh1	T	A	8: 106,656,835	H235Q	probably damaging	Het
Cntln	A	G	4: 85,130,679	E1376G	probably benign	Het
Cntnap5b	T	A	1: 100,370,078	S781T	probably benign	Het
Cpne4	A	G	9: 104,872,688	T64A	probably damaging	Het
Ctsg	T	C	14: 56,100,601	Y179C	probably damaging	Het
Cx3cr1	A	G	9: 120,051,593	Y248H	probably damaging	Het
Dhx37	T	C	5: 125,429,931	E167G	probably benign	Het
Dnajc21	C	A	15: 10,449,607	A443S	probably benign	Het
Drd5	T	C	5: 38,320,161	S166P	probably damaging	Het
Dscaml1	T	C	9: 45,683,756	L719P	possibly damaging	Het
Eif2ak4	T	C	2: 118,430,839	I542T	probably damaging	Het
Ephb3	G	A	16: 21,217,235	G291E	probably damaging	Het
Eva1a	T	A	6: 82,092,156	Y155N	probably damaging	Het
Exog	C	T	9: 119,449,818	P189L	probably damaging	Het
Fam13b	A	G	18: 34,457,760	V455A	possibly damaging	Het
Fam192a	T	C	8: 94,588,811	E31G	probably damaging	Het
Fam35a	C	A	14: 34,268,173	V259L	probably benign	Het
Fmn2	C	A	1: 174,581,922	Q574K	unknown	Het
Gm10037	A	T	13: 67,833,865	R65S	probably benign	Het
Gm6871	A	T	7: 41,545,719	S531R	probably benign	Het
Golga2	T	A	2: 32,305,470		probably null	Het
Hydin	C	T	8: 110,589,571	P4365L	probably benign	Het
Ints8	A	T	4: 11,225,600		probably null	Het
Kbtbd12	A	C	6: 88,618,060	S263A	probably benign	Het
Kcng4	T	C	8: 119,633,487	D50G	probably benign	Het
Klhl18	A	T	9: 110,437,401	C217S	probably benign	Het
Klk1b4	A	G	7: 44,207,451		probably benign	Het
Klk7	G	A	7: 43,813,329	C186Y	probably damaging	Het
Krit1	T	C	5: 3,836,799	Y635H	probably damaging	Het
Lipo4	A	T	19: 33,499,321	D342E	probably damaging	Het
Lsm14b	T	G	2: 180,031,795	D199E	probably benign	Het
Map3k4	A	T	17: 12,271,730	N271K	possibly damaging	Het
Mast1	T	A	8: 84,912,068	N1544I	probably benign	Het
Megf6	T	A	4: 154,270,690	C1487*	probably null	Het
Mlh3	C	A	12: 85,268,754	K219N	possibly damaging	Het
Mtmr4	A	G	11: 87,602,830	K305E	probably damaging	Het
Myo15	A	G	11: 60,514,936	M3105V	probably benign	Het
Nbas	A	T	12: 13,513,562	I1958F	probably benign	Het
Nepro	A	T	16: 44,735,853	Q458L	probably damaging	Het
Olfr1309	T	A	2: 111,983,697	I126L	possibly damaging	Het
Olfr198	A	G	16: 59,202,016	S137P	probably benign	Het
Olfr295	T	A	7: 86,586,064	I263N	probably benign	Het
Olfr583	T	C	7: 103,051,376	I26T	probably benign	Het
Olfr741	T	A	14: 50,486,300	F281I	probably benign	Het
Olfr874	A	G	9: 37,746,311	Y59C	possibly damaging	Het
Opa3	T	C	7: 19,244,912	Y101H	probably damaging	Het
Pate3	T	C	9: 35,648,116	N2D	probably benign	Het
Pcdhb21	T	A	18: 37,515,718	D633E	possibly damaging	Het
Pgm1	C	T	5: 64,127,782	P589L	probably benign	Het
Pigg	T	A	5: 108,317,391	D163E	probably damaging	Het
Polq	A	G	16: 37,060,224	T638A	possibly damaging	Het
Prmt3	T	A	7: 49,798,346	M268K	possibly damaging	Het
Prmt9	T	C	8: 77,565,108	C370R	probably benign	Het
Prss57	A	T	10: 79,787,385	V76E	possibly damaging	Het
Pzp	T	C	6: 128,490,572	E1089G	possibly damaging	Het
Qars	T	A	9: 108,508,201		probably null	Het
Ralgapb	T	C	2: 158,462,195	Y625H	probably damaging	Het
Rgl2	G	A	17: 33,931,744	D59N	probably benign	Het
Robo1	T	G	16: 73,004,667	W1060G	probably benign	Het
Scaper	A	T	9: 55,864,546	V362E	probably benign	Het
Schip1	T	C	3: 68,617,684	F131S	probably damaging	Het
Sh2b2	A	T	5: 136,227,422	V252D	probably damaging	Het
Slc17a6	A	T	7: 51,646,209	H199L	possibly damaging	Het
Slc29a4	G	T	5: 142,714,062	W156L	probably damaging	Het
Slc5a3	T	A	16: 92,077,756	S234T	probably benign	Het
Srd5a3	T	G	5: 76,149,783	V20G	probably damaging	Het
Stac	A	T	9: 111,604,082	S223T	possibly damaging	Het
Sytl2	A	T	7: 90,403,052	T766S	probably benign	Het
Tas2r102	A	G	6: 132,762,291	D54G	probably benign	Het
Tbpl1	A	G	10: 22,707,843	V105A	probably damaging	Het
Tenm3	G	T	8: 48,417,179	P193Q	probably benign	Het
Tes	G	A	6: 17,104,755	V403M	probably benign	Het
Tgfbr2	A	C	9: 116,109,880	I318S	probably damaging	Het
Tgfbr3	C	A	5: 107,136,930	V618L	probably benign	Het
Tmc1	C	T	19: 20,816,109		probably null	Het
Tmem132a	G	A	19: 10,858,506	H887Y	probably damaging	Het
Tmem43	C	A	6: 91,477,330	S33*	probably null	Het
Tob1	A	G	11: 94,213,754	K39E	probably damaging	Het
Unc79	T	A	12: 103,112,455	D1433E	probably damaging	Het
Usp25	T	C	16: 77,081,554	M622T	probably damaging	Het
Vmn1r158	A	T	7: 22,790,430	L118Q	probably damaging	Het
Vmn1r217	T	A	13: 23,114,325	I136L	probably benign	Het
Vmn2r15	A	T	5: 109,294,270	I99K	possibly damaging	Het
Vwa7	T	A	17: 35,024,948	V786E	probably damaging	Het
Xkr5	A	G	8: 18,939,132	F248S	probably benign	Het
Zcchc6	A	T	13: 59,791,821	H705Q	probably damaging	Het
Zzef1	A	T	11: 72,910,272	K2444M	probably damaging	Het

Other mutations in Slc29a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Slc29a1	APN	17	45589992	missense	probably damaging	1.00
IGL01617:Slc29a1	APN	17	45589449	missense	probably benign	0.02
IGL02154:Slc29a1	APN	17	45586163	missense	probably damaging	1.00
soldate	UTSW	17	45586263	missense	probably damaging	1.00
veteran	UTSW	17	45589921	critical splice donor site	probably null
veterinarian	UTSW	17	45586109	missense	probably damaging	1.00
workhorse	UTSW	17	45589066	nonsense	probably null
R0288:Slc29a1	UTSW	17	45589804	missense	probably damaging	1.00
R1168:Slc29a1	UTSW	17	45590278	missense	probably damaging	1.00
R1676:Slc29a1	UTSW	17	45589010	missense	probably damaging	0.98
R2032:Slc29a1	UTSW	17	45586109	missense	probably damaging	1.00
R2413:Slc29a1	UTSW	17	45585717	missense	probably damaging	1.00
R3917:Slc29a1	UTSW	17	45588973	splice site	probably null
R4513:Slc29a1	UTSW	17	45589066	nonsense	probably null
R4583:Slc29a1	UTSW	17	45589956	missense	possibly damaging	0.67
R5244:Slc29a1	UTSW	17	45588413	unclassified	probably benign
R6174:Slc29a1	UTSW	17	45589928	missense	probably damaging	1.00
R6284:Slc29a1	UTSW	17	45589921	critical splice donor site	probably null
R6446:Slc29a1	UTSW	17	45589245	missense	possibly damaging	0.88
R6607:Slc29a1	UTSW	17	45588927	splice site	probably null
R7133:Slc29a1	UTSW	17	45589971	missense	possibly damaging	0.50
R7153:Slc29a1	UTSW	17	45585762	missense	probably damaging	1.00
R7248:Slc29a1	UTSW	17	45592182	missense	probably damaging	1.00
R7271:Slc29a1	UTSW	17	45588362	missense	probably benign	0.01
R7604:Slc29a1	UTSW	17	45592324	splice site	probably null
R7811:Slc29a1	UTSW	17	45586263	missense	probably damaging	1.00
R8406:Slc29a1	UTSW	17	45589780	missense	probably damaging	1.00
X0067:Slc29a1	UTSW	17	45590325	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACCTAAGAACTGTACGCATGGGC -3'
(R):5'- CATGGGTGGGGTATGGGCAAC -3'

Sequencing Primer
(F):5'- caccagaagagggcatcag -3'
(R):5'- GGGTATGGGCAACCTCTG -3'

Posted On

2014-05-23