Incidental Mutation 'IGL01475:Slc29a3'
ID |
88443 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc29a3
|
Ensembl Gene |
ENSMUSG00000020100 |
Gene Name |
solute carrier family 29 (nucleoside transporters), member 3 |
Synonyms |
4933435C21Rik, Ent3 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.089)
|
Stock # |
IGL01475
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
60547851-60588573 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60559596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 186
(V186A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112685
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117513]
[ENSMUST00000119595]
[ENSMUST00000150845]
|
AlphaFold |
Q99P65 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117513
AA Change: V186A
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112685 Gene: ENSMUSG00000020100 AA Change: V186A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
107 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
Pfam:Nucleoside_tran
|
169 |
473 |
2.2e-62 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119595
AA Change: V186A
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000112426 Gene: ENSMUSG00000020100 AA Change: V186A
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
transmembrane domain
|
107 |
126 |
N/A |
INTRINSIC |
transmembrane domain
|
133 |
155 |
N/A |
INTRINSIC |
transmembrane domain
|
165 |
187 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127386
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144989
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150845
|
SMART Domains |
Protein: ENSMUSP00000119716 Gene: ENSMUSG00000020100
Domain | Start | End | E-Value | Type |
transmembrane domain
|
50 |
72 |
N/A |
INTRINSIC |
low complexity region
|
117 |
125 |
N/A |
INTRINSIC |
low complexity region
|
144 |
155 |
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 encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010] PHENOTYPE: Mice homozygous for a knock-out allele exhibit lymphadenopathy, splenomegaly, histiocytic sarcoma, and premature death associated with extramedullary hematopoiesis, increased macrophage proliferation and apoptosis and abnormal lysosome function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
A |
T |
14: 59,380,252 (GRCm39) |
N15K |
possibly damaging |
Het |
Adam32 |
A |
T |
8: 25,362,664 (GRCm39) |
I587K |
probably damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,843 (GRCm39) |
S942G |
probably benign |
Het |
Adamtsl5 |
A |
G |
10: 80,180,750 (GRCm39) |
F104S |
probably damaging |
Het |
Adgrf5 |
A |
G |
17: 43,761,245 (GRCm39) |
D980G |
probably benign |
Het |
Apba1 |
A |
T |
19: 23,894,950 (GRCm39) |
D462V |
possibly damaging |
Het |
Arhgef11 |
T |
C |
3: 87,634,433 (GRCm39) |
|
probably benign |
Het |
Cd74 |
T |
C |
18: 60,943,393 (GRCm39) |
|
probably benign |
Het |
Cdc16 |
T |
C |
8: 13,831,542 (GRCm39) |
S592P |
probably benign |
Het |
Cenpj |
A |
G |
14: 56,802,502 (GRCm39) |
M21T |
possibly damaging |
Het |
Col28a1 |
A |
G |
6: 8,103,521 (GRCm39) |
L425S |
probably damaging |
Het |
Dbt |
C |
T |
3: 116,313,908 (GRCm39) |
T25I |
possibly damaging |
Het |
Dguok |
C |
A |
6: 83,467,552 (GRCm39) |
M98I |
possibly damaging |
Het |
Dmxl1 |
T |
C |
18: 50,004,781 (GRCm39) |
L943P |
probably damaging |
Het |
Eloa |
G |
A |
4: 135,738,231 (GRCm39) |
S243L |
probably benign |
Het |
Enkur |
C |
A |
2: 21,201,530 (GRCm39) |
A52S |
probably damaging |
Het |
Ezh1 |
T |
C |
11: 101,083,787 (GRCm39) |
E744G |
probably damaging |
Het |
Fbxw11 |
T |
C |
11: 32,672,101 (GRCm39) |
S190P |
possibly damaging |
Het |
Foxb1 |
G |
A |
9: 69,666,550 (GRCm39) |
|
probably benign |
Het |
Gabra5 |
C |
T |
7: 57,058,432 (GRCm39) |
G439S |
probably damaging |
Het |
Gtf2h2 |
A |
T |
13: 100,617,541 (GRCm39) |
V207D |
probably damaging |
Het |
Hoatz |
A |
G |
9: 51,011,358 (GRCm39) |
I93T |
probably benign |
Het |
Krt76 |
A |
G |
15: 101,796,948 (GRCm39) |
V317A |
probably benign |
Het |
Lair1 |
C |
A |
7: 4,012,683 (GRCm39) |
|
probably benign |
Het |
Lrit2 |
T |
A |
14: 36,791,051 (GRCm39) |
H243Q |
probably damaging |
Het |
Mast3 |
C |
T |
8: 71,232,174 (GRCm39) |
A1268T |
probably damaging |
Het |
Matn2 |
G |
A |
15: 34,316,671 (GRCm39) |
M4I |
possibly damaging |
Het |
Mob1b |
T |
A |
5: 88,897,502 (GRCm39) |
F137I |
probably damaging |
Het |
Mreg |
T |
C |
1: 72,203,325 (GRCm39) |
|
probably benign |
Het |
Nom1 |
T |
C |
5: 29,651,272 (GRCm39) |
V684A |
possibly damaging |
Het |
Pate2 |
T |
A |
9: 35,580,998 (GRCm39) |
L1Q |
probably null |
Het |
Pla2r1 |
T |
C |
2: 60,271,425 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,331,870 (GRCm39) |
F447L |
possibly damaging |
Het |
Pno1 |
A |
T |
11: 17,160,992 (GRCm39) |
I114N |
probably damaging |
Het |
Ppp1r7 |
T |
G |
1: 93,288,540 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,059,968 (GRCm39) |
Y1503N |
probably benign |
Het |
Rab30 |
T |
C |
7: 92,484,930 (GRCm39) |
V132A |
probably damaging |
Het |
Slc15a4 |
T |
C |
5: 127,679,024 (GRCm39) |
T439A |
probably benign |
Het |
Stxbp5l |
G |
A |
16: 37,165,454 (GRCm39) |
T88I |
possibly damaging |
Het |
Tarbp1 |
A |
G |
8: 127,160,701 (GRCm39) |
V1250A |
probably benign |
Het |
Tcte2 |
A |
T |
17: 13,937,824 (GRCm39) |
|
probably benign |
Het |
Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
Trpc4 |
A |
T |
3: 54,173,828 (GRCm39) |
L407F |
possibly damaging |
Het |
Vmn1r6 |
T |
C |
6: 56,979,896 (GRCm39) |
F164S |
probably damaging |
Het |
Zfp579 |
C |
A |
7: 4,997,743 (GRCm39) |
R56L |
probably benign |
Het |
|
Other mutations in Slc29a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1967:Slc29a3
|
UTSW |
10 |
60,552,243 (GRCm39) |
missense |
probably benign |
|
R1986:Slc29a3
|
UTSW |
10 |
60,559,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R2206:Slc29a3
|
UTSW |
10 |
60,551,686 (GRCm39) |
missense |
possibly damaging |
0.87 |
R3891:Slc29a3
|
UTSW |
10 |
60,552,040 (GRCm39) |
nonsense |
probably null |
|
R4734:Slc29a3
|
UTSW |
10 |
60,552,105 (GRCm39) |
missense |
probably benign |
0.01 |
R4748:Slc29a3
|
UTSW |
10 |
60,552,105 (GRCm39) |
missense |
probably benign |
0.01 |
R4749:Slc29a3
|
UTSW |
10 |
60,552,105 (GRCm39) |
missense |
probably benign |
0.01 |
R5682:Slc29a3
|
UTSW |
10 |
60,551,991 (GRCm39) |
missense |
probably benign |
0.00 |
R5938:Slc29a3
|
UTSW |
10 |
60,588,563 (GRCm39) |
unclassified |
probably benign |
|
R6104:Slc29a3
|
UTSW |
10 |
60,556,781 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6405:Slc29a3
|
UTSW |
10 |
60,551,805 (GRCm39) |
missense |
probably damaging |
0.98 |
R7341:Slc29a3
|
UTSW |
10 |
60,586,437 (GRCm39) |
missense |
probably benign |
0.25 |
R7683:Slc29a3
|
UTSW |
10 |
60,552,145 (GRCm39) |
missense |
not run |
|
R8527:Slc29a3
|
UTSW |
10 |
60,566,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R8542:Slc29a3
|
UTSW |
10 |
60,566,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R9245:Slc29a3
|
UTSW |
10 |
60,559,755 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9544:Slc29a3
|
UTSW |
10 |
60,551,960 (GRCm39) |
nonsense |
probably null |
|
R9650:Slc29a3
|
UTSW |
10 |
60,586,302 (GRCm39) |
missense |
possibly damaging |
0.87 |
RF009:Slc29a3
|
UTSW |
10 |
60,586,340 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2013-11-18 |