Incidental Mutation 'R6104:Slc29a3'
| ID |
485435 |
| 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 |
044254-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6104 (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 G
at 60556781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 211
(V211A)
|
| 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: V211A
PolyPhen 2
Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000112685
Gene: ENSMUSG00000020100
AA Change: V211A
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
T |
4: 106,613,094 (GRCm39) |
L327Q |
probably damaging |
Het |
| Atrip |
C |
T |
9: 108,894,632 (GRCm39) |
A432T |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,856,052 (GRCm39) |
T736A |
probably damaging |
Het |
| Cyp1b1 |
T |
A |
17: 80,017,634 (GRCm39) |
Y507F |
probably damaging |
Het |
| Desi2 |
G |
A |
1: 178,077,018 (GRCm39) |
R174H |
probably benign |
Het |
| Dop1a |
A |
T |
9: 86,402,860 (GRCm39) |
K1351N |
possibly damaging |
Het |
| Fads2b |
T |
A |
2: 85,338,693 (GRCm39) |
K149* |
probably null |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,497,161 (GRCm39) |
I535T |
probably damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,750,144 (GRCm39) |
I466N |
possibly damaging |
Het |
| Il17a |
A |
G |
1: 20,802,498 (GRCm39) |
Y69C |
probably damaging |
Het |
| Itgam |
A |
G |
7: 127,715,474 (GRCm39) |
D938G |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,127 (GRCm39) |
D316G |
probably benign |
Het |
| Lrba |
C |
A |
3: 86,261,099 (GRCm39) |
A1485E |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,935,319 (GRCm39) |
T1483I |
probably damaging |
Het |
| Myo18b |
T |
C |
5: 113,022,157 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
T |
A |
18: 74,833,750 (GRCm39) |
I842N |
probably benign |
Het |
| Nckap5l |
C |
T |
15: 99,321,869 (GRCm39) |
S1092N |
probably benign |
Het |
| Nelfcd |
T |
C |
2: 174,265,250 (GRCm39) |
S273P |
probably damaging |
Het |
| Nt5c1b |
A |
G |
12: 10,422,955 (GRCm39) |
N83D |
probably damaging |
Het |
| Oas3 |
T |
A |
5: 120,899,758 (GRCm39) |
I709F |
unknown |
Het |
| Or1p1 |
C |
A |
11: 74,180,192 (GRCm39) |
T240N |
probably damaging |
Het |
| Or8i2 |
T |
C |
2: 86,852,057 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,787,342 (GRCm39) |
D1310G |
probably benign |
Het |
| Ppfia1 |
A |
G |
7: 144,045,311 (GRCm39) |
S949P |
possibly damaging |
Het |
| Pxylp1 |
A |
C |
9: 96,706,800 (GRCm39) |
F461V |
possibly damaging |
Het |
| Rcn3 |
A |
G |
7: 44,740,947 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rnpepl1 |
A |
G |
1: 92,843,606 (GRCm39) |
H242R |
probably benign |
Het |
| Rps6ka5 |
A |
T |
12: 100,519,407 (GRCm39) |
D735E |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Ryr2 |
G |
A |
13: 11,814,711 (GRCm39) |
T687M |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,624,744 (GRCm39) |
I526T |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,711,067 (GRCm39) |
H155Q |
probably benign |
Het |
| Taar8b |
A |
T |
10: 23,968,135 (GRCm39) |
S20T |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,486,496 (GRCm39) |
I988F |
probably damaging |
Het |
| Thoc2l |
T |
A |
5: 104,666,084 (GRCm39) |
I202K |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,856,130 (GRCm39) |
S17P |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,224,905 (GRCm39) |
S119P |
probably benign |
Het |
| Topaz1 |
A |
G |
9: 122,578,931 (GRCm39) |
T614A |
probably benign |
Het |
| Vmn2r80 |
A |
C |
10: 78,984,854 (GRCm39) |
N69H |
probably benign |
Het |
| Xylb |
T |
A |
9: 119,193,573 (GRCm39) |
*66R |
probably null |
Het |
| Ylpm1 |
G |
A |
12: 85,076,404 (GRCm39) |
R1043H |
probably benign |
Het |
| Ythdf3 |
G |
A |
3: 16,259,325 (GRCm39) |
V491I |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGACCTATGATCCAATCAGATG -3'
(R):5'- AGACTGTAGGGACTCACCTCTC -3'
Sequencing Primer
(F):5'- CTATGATCCAATCAGATGACCAGGTG -3'
(R):5'- GTAGGGACTCACCTCTCCTCATC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation