Incidental Mutation 'IGL03302:Ugt2a3'
| ID |
416246 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.106)
|
| Stock # |
IGL03302
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87472831-87485054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87484439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 195
(P195L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031195]
|
| AlphaFold |
Q8BWQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031195
AA Change: P195L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: P195L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,858,576 (GRCm39) |
Y542F |
possibly damaging |
Het |
| Ankrd34b |
A |
T |
13: 92,576,151 (GRCm39) |
N461I |
possibly damaging |
Het |
| Ccl24 |
T |
C |
5: 135,599,732 (GRCm39) |
K93E |
probably benign |
Het |
| Ccr9 |
T |
A |
9: 123,608,601 (GRCm39) |
D94E |
probably damaging |
Het |
| Cd79a |
G |
A |
7: 24,598,759 (GRCm39) |
V103M |
probably damaging |
Het |
| Ces1e |
A |
G |
8: 93,950,521 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,837,566 (GRCm39) |
E993G |
probably damaging |
Het |
| Cyp4a14 |
T |
C |
4: 115,348,575 (GRCm39) |
I330V |
probably benign |
Het |
| Cyp7a1 |
T |
C |
4: 6,273,801 (GRCm39) |
D35G |
probably benign |
Het |
| Dmpk |
C |
A |
7: 18,820,411 (GRCm39) |
|
probably benign |
Het |
| Gcnt1 |
G |
T |
19: 17,306,547 (GRCm39) |
R393S |
probably benign |
Het |
| Lctl |
C |
T |
9: 64,042,130 (GRCm39) |
|
probably benign |
Het |
| Mttp |
A |
T |
3: 137,810,468 (GRCm39) |
I664N |
possibly damaging |
Het |
| Myh1 |
C |
T |
11: 67,102,328 (GRCm39) |
A873V |
probably benign |
Het |
| Nedd9 |
A |
G |
13: 41,492,330 (GRCm39) |
V54A |
probably damaging |
Het |
| Or3a1b |
T |
G |
11: 74,012,459 (GRCm39) |
C115G |
possibly damaging |
Het |
| Or4f14 |
A |
T |
2: 111,743,167 (GRCm39) |
V36E |
possibly damaging |
Het |
| Or6b1 |
G |
T |
6: 42,814,937 (GRCm39) |
E41* |
probably null |
Het |
| Pak6 |
A |
T |
2: 118,523,784 (GRCm39) |
E313V |
probably benign |
Het |
| Pla2g4a |
A |
G |
1: 149,740,698 (GRCm39) |
S402P |
probably benign |
Het |
| Polq |
T |
C |
16: 36,892,134 (GRCm39) |
M2012T |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,765,788 (GRCm39) |
|
probably benign |
Het |
| Rbp3 |
A |
G |
14: 33,676,616 (GRCm39) |
H188R |
probably damaging |
Het |
| Rps6ka2 |
C |
A |
17: 7,566,787 (GRCm39) |
Q682K |
possibly damaging |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Spag4 |
A |
G |
2: 155,910,340 (GRCm39) |
Q322R |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,676,466 (GRCm39) |
T702A |
probably benign |
Het |
| Spmap2l |
T |
G |
5: 77,202,423 (GRCm39) |
S281R |
probably benign |
Het |
| Taf3 |
G |
T |
2: 9,956,942 (GRCm39) |
F408L |
probably damaging |
Het |
| Tead2 |
T |
G |
7: 44,882,323 (GRCm39) |
Y121D |
possibly damaging |
Het |
| Tmco5 |
A |
T |
2: 116,722,760 (GRCm39) |
T294S |
probably damaging |
Het |
| Trim37 |
A |
G |
11: 87,037,827 (GRCm39) |
E187G |
possibly damaging |
Het |
| Ubb |
T |
A |
11: 62,443,243 (GRCm39) |
L91Q |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,466,652 (GRCm39) |
S402G |
possibly damaging |
Het |
| Zc3h7a |
T |
A |
16: 10,959,574 (GRCm39) |
H793L |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,773 (GRCm39) |
T2977I |
possibly 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 |
|
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 |
|
|
|
R3894:Ugt2a3
|
UTSW |
5 |
87,477,449 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation