Mutagenetix > Incidental Mutation

Incidental Mutation 'R6174:Slc29a1'

488220

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6174 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45896126-45910532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45900854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 71 (H71Q)

Ref Sequence

ENSEMBL: ENSMUSP00000133162 (fasta)

Gene Model

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

AlphaFold

Q9JIM1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000051574
AA Change: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063096
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063757
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094923
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129242
Gene: ENSMUSG00000023942
AA Change: H103Q

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
AA Change: H103Q

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000129240
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H103Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131646
Gene: ENSMUSG00000023942
AA Change: H103Q

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
AA Change: H103Q

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000126934
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H103Q

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131116
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128763
Gene: ENSMUSG00000023942
AA Change: H103Q

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: ENSMUST00000166633
AA Change: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131075
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H71Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133162
Gene: ENSMUSG00000023942
AA Change: H71Q

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: ENSMUST00000167692
AA Change: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131976
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H71Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127343
Gene: ENSMUSG00000023942
AA Change: H71Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167863

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167748

Predicted Effect

probably benign
Transcript: ENSMUST00000168274

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: 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: ENSMUST00000172301
AA Change: H103Q

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129345
Gene: ENSMUSG00000023942
AA Change: H103Q

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: ENSMUST00000171081
AA Change: H103Q

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000131217
Gene: ENSMUSG00000023942
AA Change: H103Q

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: H103Q

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126703
Gene: ENSMUSG00000023942
AA Change: H103Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,919,517 (GRCm39)	D725E	probably damaging	Het
Bco1	T	A	8: 117,840,273 (GRCm39)	Y264N	probably damaging	Het
Cd109	G	A	9: 78,572,828 (GRCm39)		probably null	Het
Cdc45	T	C	16: 18,613,454 (GRCm39)		probably null	Het
Ckap5	A	G	2: 91,398,564 (GRCm39)	E578G	probably benign	Het
Cracr2b	T	A	7: 141,044,749 (GRCm39)	L193Q	probably damaging	Het
Dmxl2	G	A	9: 54,301,011 (GRCm39)	L2367F	probably damaging	Het
Dop1b	T	G	16: 93,563,110 (GRCm39)	D871E	probably damaging	Het
Emc1	T	C	4: 139,093,842 (GRCm39)	Y651H	probably benign	Het
Enox1	T	C	14: 77,745,627 (GRCm39)	S41P	possibly damaging	Het
Fcgbpl1	A	G	7: 27,839,384 (GRCm39)	Y399C	probably damaging	Het
Foxa1	A	G	12: 57,589,686 (GRCm39)	L178P	probably damaging	Het
Gm57859	C	A	11: 113,579,801 (GRCm39)	H399N	possibly damaging	Het
Grm7	T	A	6: 111,223,258 (GRCm39)	Y433N	probably benign	Het
Gsta5	T	A	9: 78,211,737 (GRCm39)	Y166*	probably null	Het
Gtf3c2	G	A	5: 31,315,555 (GRCm39)	R813C	probably damaging	Het
H4c9	T	A	13: 22,225,247 (GRCm39)	T83S	probably benign	Het
Hacd3	T	C	9: 64,912,909 (GRCm39)	E117G	probably damaging	Het
Hmcn1	G	A	1: 150,522,535 (GRCm39)	T3455M	probably benign	Het
Itga6	A	G	2: 71,664,053 (GRCm39)	I61V	possibly damaging	Het
Jaml	T	C	9: 45,000,071 (GRCm39)	L81P	probably damaging	Het
Loxhd1	T	C	18: 77,499,874 (GRCm39)	F782S	probably damaging	Het
Lrp1b	T	C	2: 41,339,275 (GRCm39)	H742R	probably benign	Het
Macrod2	G	T	2: 140,242,895 (GRCm39)	M1I	probably null	Het
Mcf2l	G	A	8: 13,063,849 (GRCm39)	W1020*	probably null	Het
Msgn1	A	G	12: 11,258,924 (GRCm39)	L9P	probably damaging	Het
Ngdn	C	A	14: 55,259,556 (GRCm39)	S202R	probably benign	Het
Notch1	C	T	2: 26,375,454 (GRCm39)	G50R	possibly damaging	Het
Or14c46	A	T	7: 85,918,009 (GRCm39)	D329E	probably benign	Het
Or1a1b	A	T	11: 74,097,466 (GRCm39)	I192N	probably damaging	Het
Or2d2b	A	T	7: 106,705,714 (GRCm39)	M118K	probably damaging	Het
Or5d14	A	T	2: 87,880,646 (GRCm39)	C107*	probably null	Het
Osbpl10	A	G	9: 114,938,555 (GRCm39)	S211G	probably benign	Het
Pabpc6	G	A	17: 9,887,084 (GRCm39)	A489V	probably benign	Het
Pcdhb13	A	T	18: 37,576,474 (GRCm39)	D284V	possibly damaging	Het
Pde6c	T	C	19: 38,128,677 (GRCm39)	S214P	possibly damaging	Het
Pofut1	C	T	2: 153,101,536 (GRCm39)	H192Y	probably damaging	Het
Pou3f2	T	C	4: 22,486,960 (GRCm39)	D391G	possibly damaging	Het
Prc1	G	A	7: 79,954,544 (GRCm39)	S165N	probably benign	Het
Prex1	A	G	2: 166,414,883 (GRCm39)	V304A	probably benign	Het
Ptpru	T	C	4: 131,513,065 (GRCm39)	I881V	probably benign	Het
Radil	A	G	5: 142,472,870 (GRCm39)	S847P	probably benign	Het
Rimklb	A	G	6: 122,433,371 (GRCm39)	S317P	probably damaging	Het
Sdhc	A	T	1: 170,966,271 (GRCm39)	L78*	probably null	Het
Skint6	T	A	4: 112,696,510 (GRCm39)	I1042F	possibly damaging	Het
Slc1a6	T	A	10: 78,637,741 (GRCm39)	D422E	probably damaging	Het
Slfn14	A	T	11: 83,167,429 (GRCm39)	D695E	probably damaging	Het
Spg11	A	T	2: 121,917,286 (GRCm39)		probably null	Het
Srgap2	A	G	1: 131,217,354 (GRCm39)	V986A	probably benign	Het
Stab1	A	T	14: 30,884,476 (GRCm39)	C172*	probably null	Het
Tigd4	A	G	3: 84,502,574 (GRCm39)	H497R	probably benign	Het
Ubn2	G	A	6: 38,438,471 (GRCm39)	G60D	probably damaging	Het
Uckl1	C	T	2: 181,214,866 (GRCm39)		probably null	Het
Vmn2r24	A	T	6: 123,793,236 (GRCm39)	K854N	probably benign	Het
Vps13d	G	A	4: 144,701,763 (GRCm39)	Q3193*	probably null	Het
Wdr26	G	A	1: 181,019,433 (GRCm39)	L315F	probably damaging	Het
Zc3h8	C	A	2: 128,785,775 (GRCm39)	E24*	probably null	Het
Zfp39	A	G	11: 58,782,213 (GRCm39)	V183A	probably benign	Het
Zfp608	C	A	18: 55,121,616 (GRCm39)		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCACAATCTTGATCATGGTGATG -3'
(R):5'- ACGTGTCCCAGAATGTGTCC -3'

Sequencing Primer
(F):5'- TCTTGATCATGGTGATGACAAAGAAG -3'
(R):5'- GTCCTCGGACACTGATCAATCATG -3'

Posted On

2017-10-10