Incidental Mutation 'R6405:Slc29a3'
| ID |
516260 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc29a3
|
| Ensembl Gene |
ENSMUSG00000020100 |
| Gene Name |
solute carrier family 29 (nucleoside transporters), member 3 |
| Synonyms |
4933435C21Rik, Ent3 |
| MMRRC Submission |
044550-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
60547851-60588573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 60551805 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 413
(I413N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112685
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000117513]
[ENSMUST00000119595]
[ENSMUST00000150845]
|
| AlphaFold |
Q99P65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117513
AA Change: I413N
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112685
Gene: ENSMUSG00000020100
AA Change: I413N
| 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 |
probably benign
Transcript: ENSMUST00000119595
|
| SMART Domains |
Protein: ENSMUSP00000112426
Gene: ENSMUSG00000020100
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,669,742 (GRCm39) |
V769A |
probably damaging |
Het |
| Abca4 |
A |
G |
3: 121,967,311 (GRCm39) |
|
probably null |
Het |
| Ahnak2 |
A |
T |
12: 112,739,771 (GRCm39) |
S628T |
probably damaging |
Het |
| Ano8 |
T |
C |
8: 71,935,674 (GRCm39) |
T315A |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,159,784 (GRCm39) |
V267E |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,387,154 (GRCm39) |
S158T |
probably damaging |
Het |
| Asxl2 |
T |
A |
12: 3,543,758 (GRCm39) |
V309E |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Ccdc110 |
T |
A |
8: 46,394,734 (GRCm39) |
Y208* |
probably null |
Het |
| Cfap157 |
G |
T |
2: 32,671,408 (GRCm39) |
Q133K |
probably damaging |
Het |
| Cfap53 |
A |
G |
18: 74,492,677 (GRCm39) |
E467G |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,683,767 (GRCm39) |
I1688M |
probably damaging |
Het |
| Cyp3a11 |
A |
T |
5: 145,799,230 (GRCm39) |
L319Q |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,261,570 (GRCm39) |
I2613V |
probably benign |
Het |
| Dhx35 |
T |
A |
2: 158,636,839 (GRCm39) |
W11R |
probably damaging |
Het |
| Dscam |
C |
T |
16: 96,479,625 (GRCm39) |
G1174D |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,501,076 (GRCm39) |
I402K |
probably benign |
Het |
| Hectd3 |
A |
T |
4: 116,857,821 (GRCm39) |
M585L |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,524,004 (GRCm39) |
|
probably null |
Het |
| Lalba |
T |
G |
15: 98,378,632 (GRCm39) |
|
probably null |
Het |
| Lgals9 |
C |
A |
11: 78,862,211 (GRCm39) |
V125L |
probably benign |
Het |
| Ncbp2 |
CGTCTGGATG |
CG |
16: 31,775,161 (GRCm39) |
|
probably null |
Het |
| Or2g25 |
A |
G |
17: 37,971,014 (GRCm39) |
I70T |
possibly damaging |
Het |
| Peg10 |
C |
CTCG |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Rab4b |
T |
A |
7: 26,872,379 (GRCm39) |
D94V |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,071,864 (GRCm39) |
E243G |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,415,994 (GRCm39) |
D1706G |
probably damaging |
Het |
| Slc7a9 |
T |
C |
7: 35,154,064 (GRCm39) |
L229P |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,755,686 (GRCm39) |
H104R |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,210,231 (GRCm39) |
Y241H |
probably damaging |
Het |
| Trpv5 |
G |
T |
6: 41,651,602 (GRCm39) |
T192K |
probably damaging |
Het |
| Unc79 |
T |
C |
12: 103,134,595 (GRCm39) |
V2189A |
probably damaging |
Het |
| Vmn2r106 |
A |
C |
17: 20,499,361 (GRCm39) |
S183R |
probably benign |
Het |
| Vmn2r112 |
G |
T |
17: 22,837,216 (GRCm39) |
C559F |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,481,324 (GRCm39) |
D1031G |
possibly damaging |
Het |
| Wnt5b |
T |
C |
6: 119,410,457 (GRCm39) |
S328G |
probably benign |
Het |
| Zcchc7 |
T |
C |
4: 44,926,032 (GRCm39) |
Y344H |
probably damaging |
Het |
|
| Other mutations in Slc29a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Slc29a3
|
APN |
10 |
60,559,596 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGTTCAAGCAGGGCCG -3'
(R):5'- TGGACCTCCAAGTTCTTCGTG -3'
Sequencing Primer
(F):5'- CAATCTTGGGCCCATAGA -3'
(R):5'- AAGTTCTTCGTGCCCCTCAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation