Incidental Mutation 'R9387:Ugt2a3'
ID |
710378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2a3
|
Ensembl Gene |
ENSMUSG00000035780 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide A3 |
Synonyms |
2010321J07Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
R9387 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87472831-87485054 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 87484832 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 64
(D64V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031195
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031195]
|
AlphaFold |
Q8BWQ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031195
AA Change: D64V
PolyPhen 2
Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000031195 Gene: ENSMUSG00000035780 AA Change: D64V
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: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,553,255 (GRCm39) |
D152G |
probably benign |
Het |
Abcb1b |
G |
A |
5: 8,875,614 (GRCm39) |
V596I |
probably benign |
Het |
Acss3 |
A |
G |
10: 106,959,255 (GRCm39) |
S64P |
probably damaging |
Het |
Aggf1 |
T |
C |
13: 95,507,461 (GRCm39) |
Y108C |
probably damaging |
Het |
Arpc5l |
T |
C |
2: 38,903,195 (GRCm39) |
V73A |
probably benign |
Het |
Atp5f1d |
A |
G |
10: 79,981,134 (GRCm39) |
D126G |
probably damaging |
Het |
Carmil3 |
T |
A |
14: 55,731,869 (GRCm39) |
L199* |
probably null |
Het |
Cblb |
A |
G |
16: 51,853,515 (GRCm39) |
R44G |
probably benign |
Het |
Cdcp3 |
A |
G |
7: 130,863,620 (GRCm39) |
I1208V |
unknown |
Het |
Chaf1b |
T |
G |
16: 93,689,629 (GRCm39) |
F225V |
probably benign |
Het |
Creb3l2 |
A |
T |
6: 37,356,751 (GRCm39) |
N105K |
probably damaging |
Het |
Dagla |
A |
T |
19: 10,248,465 (GRCm39) |
I65N |
probably damaging |
Het |
Dclre1c |
T |
G |
2: 3,425,342 (GRCm39) |
F30V |
probably damaging |
Het |
Dicer1 |
A |
G |
12: 104,695,499 (GRCm39) |
V144A |
possibly damaging |
Het |
Dlg5 |
C |
T |
14: 24,197,168 (GRCm39) |
G1593D |
probably damaging |
Het |
Enpp3 |
A |
T |
10: 24,711,990 (GRCm39) |
M1K |
probably null |
Het |
Fmod |
C |
A |
1: 133,968,514 (GRCm39) |
H185N |
probably benign |
Het |
Gon4l |
A |
G |
3: 88,802,260 (GRCm39) |
E957G |
probably benign |
Het |
Hat1 |
A |
G |
2: 71,264,512 (GRCm39) |
M310V |
possibly damaging |
Het |
Klhl31 |
A |
T |
9: 77,557,826 (GRCm39) |
T181S |
probably benign |
Het |
Krt36 |
T |
A |
11: 99,994,906 (GRCm39) |
E222V |
probably damaging |
Het |
Lrrc27 |
A |
T |
7: 138,807,837 (GRCm39) |
K315* |
probably null |
Het |
Mak16 |
T |
G |
8: 31,650,794 (GRCm39) |
D232A |
probably damaging |
Het |
Mepce |
A |
G |
5: 137,783,322 (GRCm39) |
S335P |
possibly damaging |
Het |
Mki67 |
T |
A |
7: 135,302,378 (GRCm39) |
R885S |
probably damaging |
Het |
Mmrn1 |
G |
A |
6: 60,935,176 (GRCm39) |
W224* |
probably null |
Het |
Mroh8 |
T |
A |
2: 157,098,386 (GRCm39) |
Q254L |
possibly damaging |
Het |
Mup18 |
A |
T |
4: 61,590,854 (GRCm39) |
V101E |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,898,460 (GRCm39) |
K1508R |
probably benign |
Het |
Or5aq6 |
A |
T |
2: 86,923,390 (GRCm39) |
M117K |
possibly damaging |
Het |
Or5g9 |
A |
G |
2: 85,551,806 (GRCm39) |
Y19C |
probably benign |
Het |
Pcdh15 |
A |
T |
10: 74,066,192 (GRCm39) |
I286F |
probably damaging |
Het |
Pcdhb8 |
A |
T |
18: 37,488,751 (GRCm39) |
Q143L |
probably benign |
Het |
Pibf1 |
T |
C |
14: 99,448,436 (GRCm39) |
S632P |
probably damaging |
Het |
Senp6 |
A |
G |
9: 79,999,646 (GRCm39) |
K100R |
probably damaging |
Het |
Slc5a9 |
A |
G |
4: 111,750,864 (GRCm39) |
S81P |
probably damaging |
Het |
Sox8 |
T |
C |
17: 25,786,338 (GRCm39) |
Q455R |
probably damaging |
Het |
Stard13 |
A |
T |
5: 151,113,483 (GRCm39) |
M26K |
probably benign |
Het |
Sulf1 |
T |
A |
1: 12,908,778 (GRCm39) |
M597K |
probably benign |
Het |
Unc80 |
T |
C |
1: 66,589,097 (GRCm39) |
|
probably null |
Het |
Vav3 |
A |
T |
3: 109,565,291 (GRCm39) |
H729L |
probably benign |
Het |
Vmn1r226 |
T |
A |
17: 20,907,831 (GRCm39) |
L21Q |
probably damaging |
Het |
Wdtc1 |
A |
G |
4: 133,036,058 (GRCm39) |
|
probably null |
Het |
Zfp984 |
A |
G |
4: 147,840,002 (GRCm39) |
M283T |
probably benign |
Het |
Zik1 |
A |
G |
7: 10,224,623 (GRCm39) |
L158P |
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 |
|
|
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 |
R9447:Ugt2a3
|
UTSW |
5 |
87,473,330 (GRCm39) |
missense |
probably benign |
0.39 |
R9524:Ugt2a3
|
UTSW |
5 |
87,485,018 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- CATCCCGTAGCTTGTCCATG -3'
(R):5'- GAGGAGGCACAATATGGTCTCTG -3'
Sequencing Primer
(F):5'- CCGTAGCTTGTCCATGAATTTCTGG -3'
(R):5'- CTCTGAAAAATGTGTTGCGGC -3'
|
Posted On |
2022-04-18 |