Incidental Mutation 'R5508:Ugt2a3'
| ID |
431028 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2a3
|
| Ensembl Gene |
ENSMUSG00000035780 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide A3 |
| Synonyms |
2010321J07Rik |
| MMRRC Submission |
043069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5508 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87472831-87485054 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87475059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 395
(M395K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031195
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031195]
|
| AlphaFold |
Q8BWQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031195
AA Change: M395K
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031195
Gene: ENSMUSG00000035780
AA Change: M395K
| 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: 98.4%
- 3x: 97.4%
- 10x: 95.7%
- 20x: 92.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,431,633 (GRCm39) |
D344G |
probably damaging |
Het |
| Asphd2 |
A |
T |
5: 112,534,649 (GRCm39) |
F300I |
probably damaging |
Het |
| BC016579 |
T |
A |
16: 45,453,369 (GRCm39) |
T149S |
possibly damaging |
Het |
| Bcl6b |
A |
T |
11: 70,116,919 (GRCm39) |
H453Q |
probably damaging |
Het |
| Ccdc192 |
G |
A |
18: 57,671,156 (GRCm39) |
|
probably null |
Het |
| Clec4b2 |
A |
G |
6: 123,150,001 (GRCm39) |
|
probably benign |
Het |
| Crispld1 |
G |
T |
1: 17,823,207 (GRCm39) |
C396F |
probably damaging |
Het |
| Dnase1l3 |
A |
G |
14: 7,968,146 (GRCm38) |
V253A |
probably damaging |
Het |
| Efhd1 |
A |
G |
1: 87,237,516 (GRCm39) |
*241W |
probably null |
Het |
| Flvcr1 |
C |
T |
1: 190,757,656 (GRCm39) |
G212D |
probably damaging |
Het |
| Golga2 |
T |
A |
2: 32,178,199 (GRCm39) |
L36* |
probably null |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Gtf3c2 |
G |
T |
5: 31,331,805 (GRCm39) |
C4* |
probably null |
Het |
| Kit |
G |
T |
5: 75,810,208 (GRCm39) |
C786F |
probably damaging |
Het |
| Klf14 |
T |
C |
6: 30,934,977 (GRCm39) |
H219R |
probably damaging |
Het |
| Large2 |
A |
G |
2: 92,200,248 (GRCm39) |
V122A |
possibly damaging |
Het |
| Lct |
G |
A |
1: 128,221,868 (GRCm39) |
A1557V |
probably damaging |
Het |
| Lrp6 |
T |
G |
6: 134,441,479 (GRCm39) |
K1162N |
probably benign |
Het |
| Mtmr11 |
G |
A |
3: 96,071,084 (GRCm39) |
R147Q |
probably damaging |
Het |
| Pbld2 |
T |
A |
10: 62,902,444 (GRCm39) |
|
probably null |
Het |
| Pcdhb3 |
A |
T |
18: 37,434,179 (GRCm39) |
L48F |
probably damaging |
Het |
| Pdcd2 |
C |
T |
17: 15,742,001 (GRCm39) |
D310N |
probably damaging |
Het |
| Phlpp1 |
G |
T |
1: 106,292,120 (GRCm39) |
R993L |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,266,488 (GRCm39) |
P21S |
probably damaging |
Het |
| Ptprq |
C |
A |
10: 107,522,092 (GRCm39) |
V620L |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,315,827 (GRCm39) |
D2182E |
probably damaging |
Het |
| Sass6 |
G |
A |
3: 116,413,752 (GRCm39) |
R485K |
probably benign |
Het |
| Scoc |
A |
T |
8: 84,162,571 (GRCm39) |
S68T |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,844,678 (GRCm39) |
L114I |
probably damaging |
Het |
| Ss18l1 |
C |
G |
2: 179,699,446 (GRCm39) |
Q215E |
probably damaging |
Het |
| Stab2 |
T |
C |
10: 86,796,143 (GRCm39) |
N368S |
probably benign |
Het |
| Trim80 |
T |
A |
11: 115,335,904 (GRCm39) |
S275R |
probably benign |
Het |
| Tubb5 |
T |
C |
17: 36,145,962 (GRCm39) |
N416S |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,242 (GRCm39) |
M285K |
possibly damaging |
Het |
| Xpo1 |
A |
G |
11: 23,244,645 (GRCm39) |
I1008V |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- TGTCCAGAACGATGGCAAG -3'
(R):5'- ATCAGATATCATCACCCCAGTG -3'
Sequencing Primer
(F):5'- AAGGCTGCCAGTTTTCCACG -3'
(R):5'- CCCAGTTCCCAAACTTTAGAGG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation