Incidental Mutation 'R3894:Ugt2a3'
| ID |
310442 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2a3
|
| Ensembl Gene |
ENSMUSG00000035780 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide A3 |
| Synonyms |
2010321J07Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R3894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87472831-87485054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87477449 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 317
(T317A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031195]
|
| AlphaFold |
Q8BWQ1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031195
AA Change: T317A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: T317A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
526 |
1.2e-233 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
318 |
454 |
1.5e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt1s1 |
A |
G |
7: 44,503,363 (GRCm39) |
D180G |
probably damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,673,762 (GRCm39) |
Y457* |
probably null |
Het |
| Alpk3 |
C |
T |
7: 80,728,138 (GRCm39) |
P423S |
possibly damaging |
Het |
| Aox1 |
A |
T |
1: 58,373,837 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,913,966 (GRCm39) |
T1316A |
probably benign |
Het |
| Cul3 |
C |
A |
1: 80,261,407 (GRCm39) |
V273F |
probably damaging |
Het |
| Dnah1 |
G |
T |
14: 31,028,985 (GRCm39) |
R582S |
probably benign |
Het |
| Fbxl2 |
T |
C |
9: 113,832,261 (GRCm39) |
N51S |
probably damaging |
Het |
| Gapvd1 |
T |
C |
2: 34,618,488 (GRCm39) |
D295G |
probably benign |
Het |
| Gdf7 |
A |
G |
12: 8,348,845 (GRCm39) |
S151P |
unknown |
Het |
| Gm10277 |
T |
C |
11: 77,676,827 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,898,690 (GRCm39) |
E688G |
possibly damaging |
Het |
| Htr1d |
A |
G |
4: 136,170,548 (GRCm39) |
E259G |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,576,774 (GRCm39) |
H609R |
possibly damaging |
Het |
| Ift80 |
T |
C |
3: 68,825,332 (GRCm39) |
D541G |
probably damaging |
Het |
| Il18r1 |
A |
T |
1: 40,514,034 (GRCm39) |
H80L |
possibly damaging |
Het |
| Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
| Mesd |
T |
A |
7: 83,546,993 (GRCm39) |
L152H |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,266,030 (GRCm39) |
C531Y |
probably damaging |
Het |
| Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,395,145 (GRCm39) |
T2480A |
probably benign |
Het |
| Or2a52 |
A |
T |
6: 43,144,192 (GRCm39) |
I67F |
probably benign |
Het |
| Or2y15 |
G |
A |
11: 49,350,766 (GRCm39) |
G87R |
possibly damaging |
Het |
| Or4f47 |
T |
C |
2: 111,972,359 (GRCm39) |
I23T |
probably benign |
Het |
| Or4g17 |
C |
A |
2: 111,209,982 (GRCm39) |
F212L |
probably benign |
Het |
| Or5k16 |
A |
G |
16: 58,736,702 (GRCm39) |
F101L |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,338,570 (GRCm39) |
Q59L |
possibly damaging |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
A |
11: 53,569,697 (GRCm39) |
I905L |
probably benign |
Het |
| Rp1l1 |
T |
C |
14: 64,266,756 (GRCm39) |
S781P |
probably benign |
Het |
| Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
| Rtn3 |
T |
A |
19: 7,412,450 (GRCm39) |
T86S |
probably damaging |
Het |
| Sdha |
A |
T |
13: 74,482,510 (GRCm39) |
S268T |
probably benign |
Het |
| Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
| Sh3glb2 |
T |
C |
2: 30,245,300 (GRCm39) |
T60A |
probably damaging |
Het |
| Slc26a3 |
A |
C |
12: 31,514,719 (GRCm39) |
Y513S |
probably damaging |
Het |
| Slc35b2 |
T |
C |
17: 45,877,368 (GRCm39) |
V165A |
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,361 (GRCm39) |
W604R |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,175,238 (GRCm39) |
S1370P |
possibly damaging |
Het |
| Tmtc4 |
A |
T |
14: 123,158,731 (GRCm39) |
|
probably null |
Het |
| Tsga13 |
A |
G |
6: 30,889,198 (GRCm39) |
V18A |
probably benign |
Het |
| Zcchc4 |
A |
T |
5: 52,941,442 (GRCm39) |
D79V |
probably damaging |
Het |
|
| Other mutations in Ugt2a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Ugt2a3
|
APN |
5 |
87,473,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00542:Ugt2a3
|
APN |
5 |
87,484,682 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01335:Ugt2a3
|
APN |
5 |
87,484,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01369:Ugt2a3
|
APN |
5 |
87,474,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01808:Ugt2a3
|
APN |
5 |
87,473,414 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02380:Ugt2a3
|
APN |
5 |
87,484,658 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03245:Ugt2a3
|
APN |
5 |
87,484,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03260:Ugt2a3
|
APN |
5 |
87,484,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03261:Ugt2a3
|
APN |
5 |
87,484,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03280:Ugt2a3
|
APN |
5 |
87,484,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03302:Ugt2a3
|
APN |
5 |
87,484,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
D4186:Ugt2a3
|
UTSW |
5 |
87,329,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0051:Ugt2a3
|
UTSW |
5 |
87,484,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0103:Ugt2a3
|
UTSW |
5 |
87,484,577 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0103:Ugt2a3
|
UTSW |
5 |
87,484,577 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0324:Ugt2a3
|
UTSW |
5 |
87,474,932 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0401:Ugt2a3
|
UTSW |
5 |
87,484,349 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0506:Ugt2a3
|
UTSW |
5 |
87,484,508 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0903:Ugt2a3
|
UTSW |
5 |
87,475,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0940:Ugt2a3
|
UTSW |
5 |
87,475,065 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1121:Ugt2a3
|
UTSW |
5 |
87,475,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1296:Ugt2a3
|
UTSW |
5 |
87,475,005 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1527:Ugt2a3
|
UTSW |
5 |
87,473,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2104:Ugt2a3
|
UTSW |
5 |
87,477,541 (GRCm39) |
splice site |
probably null |
|
|
R2119:Ugt2a3
|
UTSW |
5 |
87,484,430 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2374:Ugt2a3
|
UTSW |
5 |
87,475,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3082:Ugt2a3
|
UTSW |
5 |
87,473,534 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3853:Ugt2a3
|
UTSW |
5 |
87,485,018 (GRCm39) |
missense |
|
|
|
R4063:Ugt2a3
|
UTSW |
5 |
87,484,725 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4274:Ugt2a3
|
UTSW |
5 |
87,475,548 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4739:Ugt2a3
|
UTSW |
5 |
87,475,054 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4879:Ugt2a3
|
UTSW |
5 |
87,479,144 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5327:Ugt2a3
|
UTSW |
5 |
87,479,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5508:Ugt2a3
|
UTSW |
5 |
87,475,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5866:Ugt2a3
|
UTSW |
5 |
87,484,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6026:Ugt2a3
|
UTSW |
5 |
87,484,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6268:Ugt2a3
|
UTSW |
5 |
87,477,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Ugt2a3
|
UTSW |
5 |
87,484,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6980:Ugt2a3
|
UTSW |
5 |
87,473,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7056:Ugt2a3
|
UTSW |
5 |
87,484,953 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7133:Ugt2a3
|
UTSW |
5 |
87,473,393 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7477:Ugt2a3
|
UTSW |
5 |
87,484,479 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7485:Ugt2a3
|
UTSW |
5 |
87,475,539 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7798:Ugt2a3
|
UTSW |
5 |
87,475,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7957:Ugt2a3
|
UTSW |
5 |
87,475,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Ugt2a3
|
UTSW |
5 |
87,484,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8886:Ugt2a3
|
UTSW |
5 |
87,484,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Ugt2a3
|
UTSW |
5 |
87,473,417 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9387:Ugt2a3
|
UTSW |
5 |
87,484,832 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9447:Ugt2a3
|
UTSW |
5 |
87,473,330 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9524:Ugt2a3
|
UTSW |
5 |
87,485,018 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
|
| Posted On |
2015-04-17 |
Incidental Mutation