Incidental Mutation 'R6284:Slc29a1'
ID |
508136 |
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 |
044454-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6284 (G1)
|
Quality Score |
164.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
45896126-45910532 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 45900847 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129345
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051574]
[ENSMUST00000064889]
[ENSMUST00000097317]
[ENSMUST00000163492]
[ENSMUST00000163905]
[ENSMUST00000164217]
[ENSMUST00000164618]
[ENSMUST00000164769]
[ENSMUST00000166119]
[ENSMUST00000166633]
[ENSMUST00000167195]
[ENSMUST00000167692]
[ENSMUST00000169729]
[ENSMUST00000170113]
[ENSMUST00000170488]
[ENSMUST00000168274]
[ENSMUST00000167332]
[ENSMUST00000171081]
[ENSMUST00000171847]
[ENSMUST00000172301]
|
AlphaFold |
Q9JIM1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000051574
|
SMART Domains |
Protein: ENSMUSP00000063096 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 |
458 |
4.5e-131 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000064889
|
SMART Domains |
Protein: ENSMUSP00000063757 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 |
456 |
2.1e-130 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000087588
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097317
|
SMART Domains |
Protein: ENSMUSP00000094923 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 |
458 |
4.5e-131 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163492
|
SMART Domains |
Protein: ENSMUSP00000129242 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 |
456 |
2.1e-130 |
PFAM |
|
Predicted Effect |
probably null
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 null
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 null
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 null
Transcript: ENSMUST00000164769
|
SMART Domains |
Protein: ENSMUSP00000131116 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 |
358 |
2.7e-81 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000166119
|
SMART Domains |
Protein: ENSMUSP00000128763 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 |
458 |
4.5e-131 |
PFAM |
|
Predicted Effect |
probably null
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 null
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 null
Transcript: ENSMUST00000167692
|
SMART Domains |
Protein: ENSMUSP00000131976 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 |
458 |
4.5e-131 |
PFAM |
|
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000167748
|
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: ENSMUST00000170488
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168274
|
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 null
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 null
Transcript: ENSMUST00000171847
|
SMART Domains |
Protein: ENSMUSP00000126703 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 |
456 |
2.1e-130 |
PFAM |
|
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000171876
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171978
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (64/64) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610030E20Rik |
G |
T |
6: 72,324,437 (GRCm39) |
G16C |
probably damaging |
Het |
Abca7 |
G |
A |
10: 79,840,244 (GRCm39) |
V801I |
probably benign |
Het |
Adgrl2 |
A |
T |
3: 148,532,143 (GRCm39) |
L1030Q |
probably damaging |
Het |
Akap1 |
T |
C |
11: 88,735,394 (GRCm39) |
T423A |
possibly damaging |
Het |
Anpep |
T |
A |
7: 79,475,550 (GRCm39) |
D111V |
probably damaging |
Het |
Atm |
T |
A |
9: 53,356,676 (GRCm39) |
|
probably null |
Het |
Atp5f1a |
T |
A |
18: 77,866,168 (GRCm39) |
S106T |
probably benign |
Het |
Atp5me |
T |
C |
5: 108,581,925 (GRCm39) |
I20V |
probably benign |
Het |
Atp6v0d2 |
T |
A |
4: 19,922,605 (GRCm39) |
|
probably null |
Het |
Bclaf1 |
T |
G |
10: 20,197,906 (GRCm39) |
|
probably null |
Het |
Bod1l |
A |
G |
5: 41,976,130 (GRCm39) |
V1728A |
probably benign |
Het |
Braf |
A |
G |
6: 39,665,216 (GRCm39) |
F51L |
possibly damaging |
Het |
Camsap2 |
A |
G |
1: 136,232,175 (GRCm39) |
I140T |
possibly damaging |
Het |
Ccdc24 |
A |
T |
4: 117,726,850 (GRCm39) |
|
probably null |
Het |
Cdh26 |
G |
C |
2: 178,091,677 (GRCm39) |
G79R |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,384,939 (GRCm39) |
L2447P |
probably damaging |
Het |
Cfap74 |
T |
C |
4: 155,536,253 (GRCm39) |
F863L |
probably damaging |
Het |
Clstn2 |
C |
T |
9: 97,336,727 (GRCm39) |
G917S |
probably benign |
Het |
Col6a6 |
A |
T |
9: 105,604,426 (GRCm39) |
|
probably null |
Het |
Cul5 |
G |
A |
9: 53,535,035 (GRCm39) |
P596L |
probably damaging |
Het |
Dst |
A |
T |
1: 34,268,166 (GRCm39) |
R2863W |
probably damaging |
Het |
Dthd1 |
A |
G |
5: 62,971,384 (GRCm39) |
E69G |
possibly damaging |
Het |
Elp1 |
A |
T |
4: 56,762,281 (GRCm39) |
I1106K |
probably damaging |
Het |
Erich2 |
T |
A |
2: 70,370,028 (GRCm39) |
I402N |
probably damaging |
Het |
Fam162b |
T |
C |
10: 51,461,598 (GRCm39) |
K155R |
probably damaging |
Het |
Fhip1a |
G |
A |
3: 85,579,995 (GRCm39) |
P737S |
probably benign |
Het |
Glb1l2 |
A |
T |
9: 26,678,744 (GRCm39) |
S466T |
probably benign |
Het |
Kazn |
G |
A |
4: 141,844,508 (GRCm39) |
L402F |
probably benign |
Het |
Kcnj13 |
A |
T |
1: 87,314,608 (GRCm39) |
S205T |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,117,091 (GRCm39) |
V2462E |
probably damaging |
Het |
Lce1b |
A |
C |
3: 92,563,411 (GRCm39) |
C41G |
unknown |
Het |
Lyar |
T |
A |
5: 38,383,339 (GRCm39) |
W77R |
probably damaging |
Het |
Marchf11 |
G |
A |
15: 26,409,432 (GRCm39) |
R377Q |
probably benign |
Het |
Mis18bp1 |
A |
G |
12: 65,185,561 (GRCm39) |
F869L |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,329,887 (GRCm39) |
Y6* |
probably null |
Het |
Myzap |
T |
C |
9: 71,466,207 (GRCm39) |
I150V |
probably benign |
Het |
Nop14 |
C |
T |
5: 34,798,835 (GRCm39) |
|
probably null |
Het |
Oprl1 |
T |
A |
2: 181,359,784 (GRCm39) |
|
probably benign |
Het |
Pacsin1 |
T |
C |
17: 27,927,478 (GRCm39) |
L432P |
probably damaging |
Het |
Peak1 |
A |
G |
9: 56,167,580 (GRCm39) |
L116P |
probably benign |
Het |
Plcb2 |
C |
T |
2: 118,547,782 (GRCm39) |
V482M |
probably benign |
Het |
Pnliprp1 |
T |
A |
19: 58,723,416 (GRCm39) |
I269N |
probably damaging |
Het |
Pnpla7 |
C |
A |
2: 24,906,630 (GRCm39) |
D664E |
possibly damaging |
Het |
Ppa2 |
G |
A |
3: 133,076,178 (GRCm39) |
R269H |
probably benign |
Het |
Rps6kb2 |
G |
T |
19: 4,211,186 (GRCm39) |
T113K |
probably benign |
Het |
Rrp7a |
A |
T |
15: 83,006,061 (GRCm39) |
I63N |
probably damaging |
Het |
Slco1a7 |
T |
C |
6: 141,671,119 (GRCm39) |
D451G |
probably damaging |
Het |
Stxbp5 |
C |
A |
10: 9,642,931 (GRCm39) |
G1056V |
probably damaging |
Het |
Stxbp5 |
A |
C |
10: 9,642,923 (GRCm39) |
S1059A |
probably benign |
Het |
Taldo1 |
T |
A |
7: 140,978,496 (GRCm39) |
S149T |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,442 (GRCm39) |
D45G |
possibly damaging |
Het |
Tnrc6a |
T |
C |
7: 122,770,558 (GRCm39) |
S783P |
probably damaging |
Het |
Trap1 |
A |
G |
16: 3,878,673 (GRCm39) |
Y220H |
probably benign |
Het |
Trpc6 |
A |
G |
9: 8,643,601 (GRCm39) |
D462G |
possibly damaging |
Het |
Ttc21a |
A |
G |
9: 119,773,028 (GRCm39) |
E235G |
probably damaging |
Het |
Tubb4a |
A |
G |
17: 57,387,833 (GRCm39) |
Y398H |
probably damaging |
Het |
Ube2z |
A |
G |
11: 95,941,233 (GRCm39) |
F303S |
probably damaging |
Het |
Vmn1r211 |
A |
G |
13: 23,036,254 (GRCm39) |
S138P |
probably damaging |
Het |
Zfp1002 |
T |
A |
2: 150,097,198 (GRCm39) |
Y77F |
possibly damaging |
Het |
Zfp93 |
T |
A |
7: 23,975,054 (GRCm39) |
C346* |
probably null |
Het |
Zfp938 |
A |
T |
10: 82,063,400 (GRCm39) |
S52R |
possibly damaging |
Het |
Zp1 |
A |
T |
19: 10,893,867 (GRCm39) |
L446Q |
probably 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 |
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 |
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'- GAAGATCAGAGCATCCATCTCC -3'
(R):5'- TTTCACAAACCGCCTGGACG -3'
Sequencing Primer
(F):5'- GATCAGAGCATCCATCTCCACCTTC -3'
(R):5'- ACGTGTCCCAGAATGTGTC -3'
|
Posted On |
2018-03-15 |