Incidental Mutation 'R1567:Ugt2b36'
| ID |
175338 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b36
|
| Ensembl Gene |
ENSMUSG00000070704 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B36 |
| Synonyms |
|
| MMRRC Submission |
039606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R1567 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87213786-87240414 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87240258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 42
(I42M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094649]
[ENSMUST00000132667]
[ENSMUST00000145617]
|
| AlphaFold |
Q3UEP4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094649
AA Change: I42M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092233
Gene: ENSMUSG00000070704
AA Change: I42M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
527 |
6.9e-260 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
339 |
448 |
2e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132667
AA Change: I42M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123024
Gene: ENSMUSG00000070704
AA Change: I42M
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
105 |
1.1e-23 |
PFAM |
|
Pfam:UDPGT
|
99 |
265 |
7.4e-95 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145617
|
| SMART Domains |
Protein: ENSMUSP00000120005
Gene: ENSMUSG00000070704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
22 |
249 |
2.1e-127 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
164 |
245 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154455
|
| SMART Domains |
Protein: ENSMUSP00000120633
Gene: ENSMUSG00000070704
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UDPGT
|
1 |
198 |
1.2e-117 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
109 |
194 |
1.7e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199725
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
A |
7: 120,030,352 (GRCm39) |
V155I |
probably benign |
Het |
| Actrt2 |
T |
C |
4: 154,751,371 (GRCm39) |
Q255R |
possibly damaging |
Het |
| Adar |
A |
T |
3: 89,643,088 (GRCm39) |
H323L |
probably benign |
Het |
| Adgrg5 |
T |
A |
8: 95,664,326 (GRCm39) |
V312E |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,459,636 (GRCm39) |
T1808A |
probably damaging |
Het |
| Aox3 |
C |
A |
1: 58,233,852 (GRCm39) |
A1285E |
probably damaging |
Het |
| Arhgap40 |
T |
A |
2: 158,388,719 (GRCm39) |
L551Q |
probably damaging |
Het |
| Blk |
A |
G |
14: 63,618,178 (GRCm39) |
S243P |
probably damaging |
Het |
| Cfap206 |
G |
T |
4: 34,716,490 (GRCm39) |
A325E |
probably benign |
Het |
| Cimap1b |
C |
A |
15: 89,261,981 (GRCm39) |
R137L |
probably benign |
Het |
| Cnn3 |
A |
T |
3: 121,243,607 (GRCm39) |
K23* |
probably null |
Het |
| Cog8 |
G |
A |
8: 107,780,740 (GRCm39) |
R173* |
probably null |
Het |
| Col11a1 |
G |
A |
3: 113,932,261 (GRCm39) |
R880H |
unknown |
Het |
| Cyp2c40 |
T |
C |
19: 39,792,215 (GRCm39) |
Q243R |
probably null |
Het |
| Dcbld1 |
A |
G |
10: 52,195,752 (GRCm39) |
E391G |
probably damaging |
Het |
| Dchs1 |
C |
A |
7: 105,421,068 (GRCm39) |
A451S |
probably benign |
Het |
| Ddx43 |
A |
G |
9: 78,323,991 (GRCm39) |
K441E |
probably damaging |
Het |
| Depdc1a |
A |
T |
3: 159,228,177 (GRCm39) |
I310F |
possibly damaging |
Het |
| Dnah17 |
C |
T |
11: 118,016,811 (GRCm39) |
V247M |
probably damaging |
Het |
| Dtd1 |
G |
T |
2: 144,588,945 (GRCm39) |
G201V |
probably damaging |
Het |
| Eif1ad3 |
A |
T |
12: 87,843,754 (GRCm39) |
I134F |
unknown |
Het |
| Enoph1 |
G |
A |
5: 100,208,884 (GRCm39) |
G80S |
probably benign |
Het |
| Fam76a |
A |
T |
4: 132,645,039 (GRCm39) |
Y48* |
probably null |
Het |
| Fut9 |
T |
G |
4: 25,620,344 (GRCm39) |
T157P |
probably damaging |
Het |
| Gm57859 |
T |
A |
11: 113,578,728 (GRCm39) |
V41D |
probably damaging |
Het |
| Gtpbp1 |
T |
C |
15: 79,596,391 (GRCm39) |
I310T |
probably damaging |
Het |
| Hk3 |
T |
A |
13: 55,154,418 (GRCm39) |
I753F |
probably damaging |
Het |
| Hnrnpl |
G |
T |
7: 28,519,608 (GRCm39) |
A419S |
possibly damaging |
Het |
| Ighv5-6 |
T |
C |
12: 113,589,528 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
A |
G |
1: 180,249,423 (GRCm39) |
T933A |
probably benign |
Het |
| Kcnn2 |
T |
G |
18: 45,803,401 (GRCm39) |
|
probably null |
Het |
| Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
| Lmcd1 |
C |
T |
6: 112,287,526 (GRCm39) |
R71C |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,201 (GRCm39) |
V237E |
probably damaging |
Het |
| Mybl1 |
T |
A |
1: 9,755,976 (GRCm39) |
E191V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,335,279 (GRCm39) |
F158I |
possibly damaging |
Het |
| Nbr1 |
C |
G |
11: 101,466,037 (GRCm39) |
L748V |
probably damaging |
Het |
| Nlrp10 |
G |
A |
7: 108,526,257 (GRCm39) |
T27M |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,377,554 (GRCm39) |
T174I |
possibly damaging |
Het |
| Nup85 |
T |
A |
11: 115,459,224 (GRCm39) |
I109K |
possibly damaging |
Het |
| Or10h28 |
A |
G |
17: 33,488,450 (GRCm39) |
I251V |
probably benign |
Het |
| Or2b28 |
A |
T |
13: 21,531,595 (GRCm39) |
I166L |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,459 (GRCm39) |
I266V |
possibly damaging |
Het |
| Or4c12b |
T |
C |
2: 89,647,528 (GRCm39) |
L280P |
probably damaging |
Het |
| Or4k48 |
G |
T |
2: 111,476,271 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Or5b105 |
T |
C |
19: 13,080,006 (GRCm39) |
T221A |
probably benign |
Het |
| Phf2 |
T |
C |
13: 48,985,589 (GRCm39) |
K64E |
unknown |
Het |
| Polr2a |
T |
C |
11: 69,636,857 (GRCm39) |
T365A |
probably benign |
Het |
| Prkcd |
A |
G |
14: 30,329,405 (GRCm39) |
C12R |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,401,748 (GRCm39) |
I1915V |
probably benign |
Het |
| Rcbtb2 |
G |
A |
14: 73,399,902 (GRCm39) |
V112I |
probably benign |
Het |
| Rxfp3 |
A |
G |
15: 11,036,187 (GRCm39) |
V395A |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,774,563 (GRCm39) |
G1198C |
possibly damaging |
Het |
| Scn1a |
T |
A |
2: 66,103,675 (GRCm39) |
I1851F |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,309,180 (GRCm39) |
*377W |
probably null |
Het |
| Sema4a |
A |
T |
3: 88,359,353 (GRCm39) |
C113S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,691 (GRCm39) |
S2575P |
probably benign |
Het |
| Stk24 |
T |
A |
14: 121,545,468 (GRCm39) |
I97L |
probably benign |
Het |
| Tap2 |
A |
G |
17: 34,433,065 (GRCm39) |
K449R |
probably benign |
Het |
| Tecpr2 |
T |
A |
12: 110,908,030 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,727,955 (GRCm39) |
|
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,246,505 (GRCm39) |
F1204L |
possibly damaging |
Het |
| Zdhhc8 |
A |
G |
16: 18,044,984 (GRCm39) |
L274P |
probably benign |
Het |
| Zfp974 |
C |
A |
7: 27,610,148 (GRCm39) |
D526Y |
probably damaging |
Het |
|
| Other mutations in Ugt2b36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00513:Ugt2b36
|
APN |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01024:Ugt2b36
|
APN |
5 |
87,228,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01295:Ugt2b36
|
APN |
5 |
87,228,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01331:Ugt2b36
|
APN |
5 |
87,238,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02597:Ugt2b36
|
APN |
5 |
87,228,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02967:Ugt2b36
|
APN |
5 |
87,238,759 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03053:Ugt2b36
|
APN |
5 |
87,239,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0370:Ugt2b36
|
UTSW |
5 |
87,239,834 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0616:Ugt2b36
|
UTSW |
5 |
87,237,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0827:Ugt2b36
|
UTSW |
5 |
87,214,234 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0885:Ugt2b36
|
UTSW |
5 |
87,239,848 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1471:Ugt2b36
|
UTSW |
5 |
87,239,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Ugt2b36
|
UTSW |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1974:Ugt2b36
|
UTSW |
5 |
87,228,727 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2065:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2066:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2068:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2111:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2272:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2696:Ugt2b36
|
UTSW |
5 |
87,237,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4626:Ugt2b36
|
UTSW |
5 |
87,239,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Ugt2b36
|
UTSW |
5 |
87,240,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4731:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
|
R4732:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
|
R4922:Ugt2b36
|
UTSW |
5 |
87,214,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5217:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5244:Ugt2b36
|
UTSW |
5 |
87,239,765 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5341:Ugt2b36
|
UTSW |
5 |
87,240,087 (GRCm39) |
nonsense |
probably null |
|
|
R5478:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5572:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5722:Ugt2b36
|
UTSW |
5 |
87,240,297 (GRCm39) |
nonsense |
probably null |
|
|
R5961:Ugt2b36
|
UTSW |
5 |
87,228,724 (GRCm39) |
splice site |
probably null |
|
|
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Ugt2b36
|
UTSW |
5 |
87,240,030 (GRCm39) |
missense |
probably benign |
|
|
R6145:Ugt2b36
|
UTSW |
5 |
87,214,072 (GRCm39) |
missense |
probably benign |
|
|
R6226:Ugt2b36
|
UTSW |
5 |
87,239,989 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6531:Ugt2b36
|
UTSW |
5 |
87,229,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Ugt2b36
|
UTSW |
5 |
87,239,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6895:Ugt2b36
|
UTSW |
5 |
87,240,157 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7218:Ugt2b36
|
UTSW |
5 |
87,229,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7258:Ugt2b36
|
UTSW |
5 |
87,228,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Ugt2b36
|
UTSW |
5 |
87,214,138 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7650:Ugt2b36
|
UTSW |
5 |
87,228,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7707:Ugt2b36
|
UTSW |
5 |
87,229,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7866:Ugt2b36
|
UTSW |
5 |
87,240,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Ugt2b36
|
UTSW |
5 |
87,214,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7985:Ugt2b36
|
UTSW |
5 |
87,239,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Ugt2b36
|
UTSW |
5 |
87,240,252 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8123:Ugt2b36
|
UTSW |
5 |
87,240,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9294:Ugt2b36
|
UTSW |
5 |
87,228,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Ugt2b36
|
UTSW |
5 |
87,228,784 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9630:Ugt2b36
|
UTSW |
5 |
87,239,773 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATTCCTGGAGTTTTGCCATGAGC -3'
(R):5'- GGTCAAGCAGTGACAGATGGATTACAC -3'
Sequencing Primer
(F):5'- TGTATCTCTTGGAACCTCATAAGTC -3'
(R):5'- TGACAGATGGATTACACTCTGAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation