Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00562:Slc29a1'

14077

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc29a1

Ensembl Gene

ENSMUSG00000023942

Gene Name

solute carrier family 29 (nucleoside transporters), member 1

Synonyms

ENT1, 1200014D21Rik, NBMPR-sensitive equilibrative nucleoside transporter

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00562

Quality Score

Status

Chromosome

Chromosomal Location

45585200-45599606 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45589992 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 50 (N50S)

Ref Sequence

ENSEMBL: ENSMUSP00000127343 (fasta)

Gene Model

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

AlphaFold

Q9JIM1

Predicted Effect

probably damaging
Transcript: ENSMUST00000051574
AA Change: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: N82S

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: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: N82S

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: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: N82S

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: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: N82S

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

possibly damaging
Transcript: ENSMUST00000163905
AA Change: N82S

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129240
Gene: ENSMUSG00000023942
AA Change: N82S

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

possibly damaging
Transcript: ENSMUST00000164217
AA Change: N82S

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: N82S

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

possibly damaging
Transcript: ENSMUST00000164618
AA Change: N82S

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000126934
Gene: ENSMUSG00000023942
AA Change: N82S

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: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: N82S

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: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: N82S

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: ENSMUST00000166633
AA Change: N82S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942
AA Change: N82S

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 damaging
Transcript: ENSMUST00000167195
AA Change: N50S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000133162
Gene: ENSMUSG00000023942
AA Change: N50S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172301
AA Change: N82S

PolyPhen 2 Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129345
Gene: ENSMUSG00000023942
AA Change: N82S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171081
AA Change: N82S

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: N82S

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 damaging
Transcript: ENSMUST00000171847
AA Change: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: N82S

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 damaging
Transcript: ENSMUST00000167692
AA Change: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: N82S

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: ENSMUST00000169729
AA Change: N50S

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

SMART Domains

Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942
AA Change: N50S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000167332
AA Change: N82S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131483
Gene: ENSMUSG00000023942
AA Change: N82S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167863

Predicted Effect

probably benign
Transcript: ENSMUST00000168274

Predicted Effect

probably benign
Transcript: ENSMUST00000170488

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	T	C	5: 24,997,621		probably benign	Het
AU016765	C	A	17: 64,519,882		noncoding transcript	Het
Chaf1b	T	C	16: 93,900,191		probably benign	Het
Clstn2	A	G	9: 97,582,452		probably benign	Het
Crip1	T	A	12: 113,153,612		probably null	Het
Cubn	A	G	2: 13,294,230	S3211P	probably benign	Het
Dlx6	C	T	6: 6,865,143	R172W	probably damaging	Het
Fktn	A	T	4: 53,747,007		probably null	Het
Focad	T	A	4: 88,348,809	M1019K	unknown	Het
Fuca2	A	T	10: 13,505,907	D188V	probably damaging	Het
Kcna3	A	G	3: 107,036,730	D103G	probably damaging	Het
Mrpl19	A	G	6: 81,965,872	V19A	probably benign	Het
Ndufb3	T	A	1: 58,595,799	H103Q	possibly damaging	Het
Pkd1l3	T	C	8: 109,656,147	V1675A	possibly damaging	Het
Ptger4	A	T	15: 5,243,133	S2T	probably benign	Het
Saxo1	C	T	4: 86,445,572	E225K	probably damaging	Het
Sftpb	G	T	6: 72,309,862	A228S	probably benign	Het
Slc22a29	T	A	19: 8,161,629	T490S	probably benign	Het
Smc6	T	A	12: 11,301,531	S854T	probably benign	Het
Smim23	T	C	11: 32,821,893	T58A	probably benign	Het
Tas2r134	T	C	2: 51,628,088	I193T	possibly damaging	Het
Thsd7a	G	T	6: 12,379,659		probably null	Het
Trav13n-4	T	G	14: 53,363,966	V64G	possibly damaging	Het
Trmt10a	G	A	3: 138,147,416	E13K	probably damaging	Het
Txndc11	T	C	16: 11,104,632	S239G	probably damaging	Het
Vmn2r96	T	A	17: 18,583,815	N442K	probably benign	Het
Vps13a	C	T	19: 16,734,714		probably null	Het

Other mutations in Slc29a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1777:Slc29a1	UTSW	17	45587308	missense	probably damaging	1.00
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
R8751:Slc29a1	UTSW	17	45589762	missense	probably benign	0.00
R8851:Slc29a1	UTSW	17	45589476	missense	probably damaging	1.00
R9224:Slc29a1	UTSW	17	45586227	missense	probably damaging	0.99
R9301:Slc29a1	UTSW	17	45586137	missense	probably damaging	1.00
X0067:Slc29a1	UTSW	17	45590325	missense	probably damaging	1.00

Posted On

2012-12-06