Incidental Mutation 'IGL01335:Ugt2a3'
| ID |
74573 |
| 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: 0.083)
|
| Stock # |
IGL01335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87472831-87485054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87484644 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 127
(C127S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031195]
|
| AlphaFold |
Q8BWQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031195
AA Change: C127S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: C127S
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
A |
2: 152,284,307 (GRCm39) |
M300K |
possibly damaging |
Het |
| Adamts14 |
T |
A |
10: 61,034,460 (GRCm39) |
R1143W |
possibly damaging |
Het |
| Ankrd28 |
T |
C |
14: 31,423,981 (GRCm39) |
Y1083C |
probably damaging |
Het |
| Anxa8 |
T |
C |
14: 33,811,547 (GRCm39) |
M34T |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,121,312 (GRCm39) |
E928* |
probably null |
Het |
| Atp8b5 |
T |
A |
4: 43,302,628 (GRCm39) |
F50L |
possibly damaging |
Het |
| Brpf1 |
A |
G |
6: 113,296,298 (GRCm39) |
S863G |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,260,530 (GRCm39) |
|
probably benign |
Het |
| Cdh6 |
C |
T |
15: 13,051,395 (GRCm39) |
A413T |
probably benign |
Het |
| Cfap96 |
A |
T |
8: 46,426,642 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
A |
G |
8: 46,623,492 (GRCm39) |
Q294R |
probably damaging |
Het |
| Cit |
C |
T |
5: 116,046,889 (GRCm39) |
|
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,690,497 (GRCm39) |
Y736C |
possibly damaging |
Het |
| Eno2 |
C |
T |
6: 124,743,618 (GRCm39) |
G107E |
probably damaging |
Het |
| Gja8 |
T |
C |
3: 96,826,558 (GRCm39) |
Q368R |
probably benign |
Het |
| Gm3633 |
T |
A |
14: 42,462,595 (GRCm39) |
|
probably benign |
Het |
| Gm4987 |
A |
T |
X: 45,544,755 (GRCm39) |
|
noncoding transcript |
Het |
| Gna13 |
G |
A |
11: 109,256,569 (GRCm39) |
R164Q |
probably damaging |
Het |
| Grhl1 |
A |
T |
12: 24,658,057 (GRCm39) |
E351D |
probably damaging |
Het |
| Idua |
A |
G |
5: 108,828,737 (GRCm39) |
Q280R |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,174,353 (GRCm39) |
|
probably benign |
Het |
| Mrpl52 |
T |
C |
14: 54,664,656 (GRCm39) |
Y39H |
probably damaging |
Het |
| Naa16 |
A |
T |
14: 79,582,556 (GRCm39) |
|
probably benign |
Het |
| Naa35 |
T |
A |
13: 59,764,610 (GRCm39) |
L338Q |
probably damaging |
Het |
| Nat8l |
A |
T |
5: 34,155,791 (GRCm39) |
Y149F |
probably benign |
Het |
| Nck1 |
A |
T |
9: 100,379,790 (GRCm39) |
W154R |
probably damaging |
Het |
| Ncoa1 |
A |
T |
12: 4,347,520 (GRCm39) |
S351R |
probably benign |
Het |
| Or10w1 |
A |
T |
19: 13,632,540 (GRCm39) |
H249L |
probably damaging |
Het |
| Or12e10 |
A |
T |
2: 87,640,790 (GRCm39) |
T209S |
probably damaging |
Het |
| Or6c8b |
T |
C |
10: 128,882,380 (GRCm39) |
K184R |
probably benign |
Het |
| Or8k1 |
A |
T |
2: 86,047,916 (GRCm39) |
L46Q |
probably damaging |
Het |
| Pacs1 |
A |
T |
19: 5,192,660 (GRCm39) |
V624E |
probably damaging |
Het |
| Pde6b |
G |
A |
5: 108,571,379 (GRCm39) |
R444H |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,173 (GRCm39) |
T226S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,634,760 (GRCm39) |
|
probably null |
Het |
| Ptbp1 |
G |
A |
10: 79,698,708 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,307,484 (GRCm39) |
V418A |
probably damaging |
Het |
| Rhot1 |
A |
T |
11: 80,141,055 (GRCm39) |
D421V |
probably damaging |
Het |
| Rimkla |
T |
C |
4: 119,335,156 (GRCm39) |
T76A |
possibly damaging |
Het |
| Rtn1 |
A |
G |
12: 72,355,124 (GRCm39) |
V274A |
probably benign |
Het |
| Tatdn2 |
T |
A |
6: 113,681,017 (GRCm39) |
M289K |
probably benign |
Het |
| Trak1 |
A |
G |
9: 121,283,382 (GRCm39) |
T476A |
possibly damaging |
Het |
| Ube2i |
C |
A |
17: 25,488,410 (GRCm39) |
Q11H |
probably damaging |
Het |
| Uimc1 |
T |
A |
13: 55,182,724 (GRCm39) |
Q619L |
probably benign |
Het |
| Upk3a |
T |
A |
15: 84,903,786 (GRCm39) |
Y162N |
probably damaging |
Het |
| Usp33 |
T |
C |
3: 152,097,854 (GRCm39) |
S849P |
probably damaging |
Het |
| Vmn2r120 |
G |
A |
17: 57,832,732 (GRCm39) |
T149I |
possibly damaging |
Het |
| Vmn2r15 |
G |
A |
5: 109,434,602 (GRCm39) |
P701S |
possibly damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,484,087 (GRCm39) |
I704M |
possibly damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,488,239 (GRCm39) |
E756G |
possibly damaging |
Het |
| Xlr3c |
C |
A |
X: 72,303,639 (GRCm39) |
V102F |
probably benign |
Het |
| Zfp384 |
T |
G |
6: 125,002,016 (GRCm39) |
D220E |
probably benign |
Het |
| Zfp521 |
A |
T |
18: 13,977,776 (GRCm39) |
V879E |
probably benign |
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 |
|
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 |
|
|
|
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 |
2013-10-07 |
Incidental Mutation