Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01617:Slc29a1'

92425

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

1200014D21Rik, NBMPR-sensitive equilibrative nucleoside transporter, ENT1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01617

Quality Score

Status

Chromosome

Chromosomal Location

45896126-45910532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45900375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 185 (F185S)

Ref Sequence

ENSEMBL: ENSMUSP00000126703 (fasta)

Gene Model

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

AlphaFold

Q9JIM1

Predicted Effect

probably benign
Transcript: ENSMUST00000051574
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: F185S

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: ENSMUST00000064889
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: F185S

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 benign
Transcript: ENSMUST00000097317
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: F185S

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: ENSMUST00000163492
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: F185S

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
AA Change: F185S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: F185S

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: ENSMUST00000166119
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: F185S

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
AA Change: F185S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942
AA Change: F185S

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: ENSMUST00000164769
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: F185S

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 benign
Transcript: ENSMUST00000167692
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: F185S

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

noncoding transcript
Transcript: ENSMUST00000167748

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167863

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: ENSMUST00000170113

SMART Domains

Protein: ENSMUSP00000128304
Gene: ENSMUSG00000023942

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

Predicted Effect

probably benign
Transcript: ENSMUST00000168274

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 benign
Transcript: ENSMUST00000170488

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 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: ENSMUST00000171081
AA Change: F185S

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: F185S

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: ENSMUST00000171847
AA Change: F185S

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: F185S

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: ENSMUST00000171978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171876

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

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
Aass	T	A	6: 23,115,149 (GRCm39)	I160F	possibly damaging	Het
Cacna1d	C	T	14: 29,824,328 (GRCm39)	A1030T	probably damaging	Het
Ceacam13	A	T	7: 17,745,308 (GRCm39)	D126V	possibly damaging	Het
Cep68	G	T	11: 20,189,510 (GRCm39)	Q501K	probably benign	Het
Cfhr1	A	T	1: 139,481,417 (GRCm39)	C154*	probably null	Het
Chd3	A	G	11: 69,249,060 (GRCm39)		probably benign	Het
Chrna5	A	G	9: 54,912,297 (GRCm39)	M262V	probably damaging	Het
Csrnp2	T	C	15: 100,382,524 (GRCm39)	Y172C	probably benign	Het
Dzip1	G	T	14: 119,118,477 (GRCm39)	P752Q	probably benign	Het
Frem1	G	A	4: 82,854,376 (GRCm39)	T1630I	probably benign	Het
Gabrr1	G	A	4: 33,162,634 (GRCm39)	S400N	probably benign	Het
Hmcn1	C	T	1: 150,547,783 (GRCm39)	A2723T	probably benign	Het
Htt	A	G	5: 35,034,099 (GRCm39)	H1895R	possibly damaging	Het
Kif21a	T	C	15: 90,879,840 (GRCm39)		probably benign	Het
Mitf	A	G	6: 97,973,389 (GRCm39)	I241V	probably benign	Het
Mterf1b	A	T	5: 4,246,503 (GRCm39)	D48V	probably benign	Het
Nmbr	G	T	10: 14,646,173 (GRCm39)	R349M	probably benign	Het
Pik3r4	T	C	9: 105,532,164 (GRCm39)	S579P	probably benign	Het
Polr2i	T	C	7: 29,931,817 (GRCm39)	F16S	possibly damaging	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Rgs11	A	G	17: 26,427,224 (GRCm39)	H385R	probably damaging	Het
Rufy4	G	A	1: 74,168,513 (GRCm39)	G99R	probably damaging	Het
Spag17	G	A	3: 100,016,824 (GRCm39)	V2200I	possibly damaging	Het
Trappc14	A	T	5: 138,260,478 (GRCm39)	L47Q	probably damaging	Het
Ttc7b	G	T	12: 100,352,215 (GRCm39)	A414D	possibly damaging	Het
Ugt2b37	A	T	5: 87,399,738 (GRCm39)	W257R	probably damaging	Het
Ythdc2	A	G	18: 44,974,482 (GRCm39)	I381M	possibly damaging	Het

Other mutations in Slc29a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00562:Slc29a1	APN	17	45,900,918 (GRCm39)	missense	probably damaging	1.00
IGL02154:Slc29a1	APN	17	45,897,089 (GRCm39)	missense	probably damaging	1.00
soldate	UTSW	17	45,897,189 (GRCm39)	missense	probably damaging	1.00
veteran	UTSW	17	45,900,847 (GRCm39)	critical splice donor site	probably null
veterinarian	UTSW	17	45,897,035 (GRCm39)	missense	probably damaging	1.00
workhorse	UTSW	17	45,899,992 (GRCm39)	nonsense	probably null
R0288:Slc29a1	UTSW	17	45,900,730 (GRCm39)	missense	probably damaging	1.00
R1168:Slc29a1	UTSW	17	45,901,204 (GRCm39)	missense	probably damaging	1.00
R1676:Slc29a1	UTSW	17	45,899,936 (GRCm39)	missense	probably damaging	0.98
R1777:Slc29a1	UTSW	17	45,898,234 (GRCm39)	missense	probably damaging	1.00
R2032:Slc29a1	UTSW	17	45,897,035 (GRCm39)	missense	probably damaging	1.00
R2413:Slc29a1	UTSW	17	45,896,643 (GRCm39)	missense	probably damaging	1.00
R3917:Slc29a1	UTSW	17	45,899,899 (GRCm39)	splice site	probably null
R4513:Slc29a1	UTSW	17	45,899,992 (GRCm39)	nonsense	probably null
R4583:Slc29a1	UTSW	17	45,900,882 (GRCm39)	missense	possibly damaging	0.67
R5244:Slc29a1	UTSW	17	45,899,339 (GRCm39)	unclassified	probably benign
R6174:Slc29a1	UTSW	17	45,900,854 (GRCm39)	missense	probably damaging	1.00
R6284:Slc29a1	UTSW	17	45,900,847 (GRCm39)	critical splice donor site	probably null
R6446:Slc29a1	UTSW	17	45,900,171 (GRCm39)	missense	possibly damaging	0.88
R6607:Slc29a1	UTSW	17	45,899,853 (GRCm39)	splice site	probably null
R7133:Slc29a1	UTSW	17	45,900,897 (GRCm39)	missense	possibly damaging	0.50
R7153:Slc29a1	UTSW	17	45,896,688 (GRCm39)	missense	probably damaging	1.00
R7248:Slc29a1	UTSW	17	45,903,108 (GRCm39)	missense	probably damaging	1.00
R7271:Slc29a1	UTSW	17	45,899,288 (GRCm39)	missense	probably benign	0.01
R7604:Slc29a1	UTSW	17	45,903,250 (GRCm39)	splice site	probably null
R7811:Slc29a1	UTSW	17	45,897,189 (GRCm39)	missense	probably damaging	1.00
R8406:Slc29a1	UTSW	17	45,900,706 (GRCm39)	missense	probably damaging	1.00
R8751:Slc29a1	UTSW	17	45,900,688 (GRCm39)	missense	probably benign	0.00
R8851:Slc29a1	UTSW	17	45,900,402 (GRCm39)	missense	probably damaging	1.00
R9224:Slc29a1	UTSW	17	45,897,153 (GRCm39)	missense	probably damaging	0.99
R9301:Slc29a1	UTSW	17	45,897,063 (GRCm39)	missense	probably damaging	1.00
X0067:Slc29a1	UTSW	17	45,901,251 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09