Mutagenetix > Incidental Mutation

Incidental Mutation 'R6446:Slc29a1'

519211

Institutional Source

Beutler Lab

Gene Symbol

Slc29a1

Ensembl Gene

ENSMUSG00000023942

Gene Name

solute carrier family 29 (nucleoside transporters), member 1

Synonyms

1200014D21Rik, NBMPR-sensitive equilibrative nucleoside transporter, ENT1

MMRRC Submission

044583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6446 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45896126-45910532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45900171 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 217 (I217N)

Ref Sequence

ENSEMBL: ENSMUSP00000131217 (fasta)

Gene Model

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

AlphaFold

Q9JIM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051574
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: I217N

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

possibly damaging
Transcript: ENSMUST00000064889
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: I217N

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

possibly damaging
Transcript: ENSMUST00000097317
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: I217N

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

possibly damaging
Transcript: ENSMUST00000163492
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: I217N

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

possibly damaging
Transcript: ENSMUST00000164217
AA Change: I217N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: I217N

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: ENSMUST00000164769
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: I217N

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

possibly damaging
Transcript: ENSMUST00000166119
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: I217N

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

possibly damaging
Transcript: ENSMUST00000167692
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: I217N

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: ENSMUST00000167863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167748

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: 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: 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: 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: 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: ENSMUST00000170488

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

noncoding transcript
Transcript: ENSMUST00000170425

Predicted Effect

probably benign
Transcript: ENSMUST00000168274

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171081
AA Change: I217N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: I217N

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: ENSMUST00000171847
AA Change: I217N

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: I217N

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: ENSMUST00000171876

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171978

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

Meta Mutation Damage Score

0.1218

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

97% (36/37)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a3	A	G	16: 30,180,687 (GRCm39)	L114P	probably benign	Het
Blm	GCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	GCCTCCTCCTCCTCCTCCTCCTCCTCC	7: 80,162,652 (GRCm39)		probably benign	Het
Catsperg1	T	C	7: 28,905,992 (GRCm39)	I196V	probably benign	Het
Cbx2	T	A	11: 118,918,752 (GRCm39)	S106T	probably benign	Het
Ccar2	T	A	14: 70,380,518 (GRCm39)	E354V	probably benign	Het
Ccr1	A	G	9: 123,764,143 (GRCm39)	I129T	probably damaging	Het
Cdkl2	T	A	5: 92,181,076 (GRCm39)	I188F	probably damaging	Het
Cep350	T	C	1: 155,737,900 (GRCm39)	N2648D	probably benign	Het
Chtf18	A	G	17: 25,940,218 (GRCm39)	S658P	probably benign	Het
Csnka2ip	G	A	16: 64,299,744 (GRCm39)	Q207*	probably null	Het
Dennd5a	A	G	7: 109,493,873 (GRCm39)	L1253P	probably damaging	Het
Dennd6a	T	A	14: 26,350,689 (GRCm39)	I374K	probably damaging	Het
Dut	T	C	2: 125,092,939 (GRCm39)		probably null	Het
Gcm1	T	C	9: 77,967,065 (GRCm39)	Y95H	probably benign	Het
Grid2	A	T	6: 64,322,577 (GRCm39)	I526F	probably damaging	Het
Hectd4	T	A	5: 121,472,438 (GRCm39)	Y2725N	possibly damaging	Het
Helq	A	T	5: 100,916,250 (GRCm39)	N907K	possibly damaging	Het
Hpse	G	A	5: 100,843,435 (GRCm39)	Q246*	probably null	Het
Iigp1c	A	G	18: 60,378,840 (GRCm39)	D125G	probably damaging	Het
Kcnj15	C	T	16: 95,097,118 (GRCm39)	H247Y	probably benign	Het
Kif27	C	A	13: 58,493,530 (GRCm39)	V138F	probably damaging	Het
Map7	T	G	10: 20,153,979 (GRCm39)	D698E	unknown	Het
Mtmr11	A	T	3: 96,078,504 (GRCm39)	S687C	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nup210l	G	A	3: 90,079,375 (GRCm39)	G953E	probably damaging	Het
Or14c45	T	A	7: 86,176,310 (GRCm39)	I115N	possibly damaging	Het
Piezo2	G	T	18: 63,219,678 (GRCm39)	P792T	probably damaging	Het
Pld3	T	C	7: 27,237,156 (GRCm39)	D241G	probably damaging	Het
Prss35	G	T	9: 86,637,706 (GRCm39)	V159F	probably damaging	Het
Rimbp3	A	T	16: 17,030,793 (GRCm39)	M1406L	probably benign	Het
Serpina3g	T	C	12: 104,205,341 (GRCm39)	F27L	probably damaging	Het
Setd1b	G	A	5: 123,299,862 (GRCm39)		probably benign	Het
Sh3glb1	T	C	3: 144,411,366 (GRCm39)	K13E	probably damaging	Het
Spag17	A	T	3: 100,010,448 (GRCm39)	T1981S	probably benign	Het
Svil	A	C	18: 5,057,323 (GRCm39)	E590D	probably benign	Het
Synm	A	G	7: 67,384,714 (GRCm39)	S541P	probably damaging	Het
Vmn2r108	A	T	17: 20,692,609 (GRCm39)	Y82*	probably null	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
IGL01617:Slc29a1	APN	17	45,900,375 (GRCm39)	missense	probably benign	0.02
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
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

Predicted Primers

PCR Primer
(F):5'- GATCCAACTTGGTCTCCTGC -3'
(R):5'- ATTGCCAGTGAGTCCAACTGC -3'

Sequencing Primer
(F):5'- GCGATAGAATTCCTGTTCAGC -3'
(R):5'- GAGTCCAACTGCGCGCG -3'

Posted On

2018-05-24