Incidental Mutation 'IGL03242:Ugt2b35'
| ID |
414865 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ugt2b35
|
| Ensembl Gene |
ENSMUSG00000035811 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B35 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
IGL03242
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87148719-87161133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87155254 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 363
(L363P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031186]
|
| AlphaFold |
Q8BJL9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031186
AA Change: L363P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031186
Gene: ENSMUSG00000035811
AA Change: L363P
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
526 |
1e-253 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
338 |
449 |
1.9e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,189 (GRCm39) |
W221R |
unknown |
Het |
| Ank2 |
A |
G |
3: 126,722,454 (GRCm39) |
F1000L |
possibly damaging |
Het |
| Aoc1l2 |
T |
C |
6: 48,909,479 (GRCm39) |
F575L |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,159,126 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
T |
C |
15: 76,004,520 (GRCm39) |
M679V |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,417,952 (GRCm39) |
|
probably benign |
Het |
| Catsperg2 |
A |
G |
7: 29,424,904 (GRCm39) |
|
probably benign |
Het |
| Chrnb4 |
A |
T |
9: 54,942,812 (GRCm39) |
I154K |
probably damaging |
Het |
| Clec2e |
A |
C |
6: 129,071,989 (GRCm39) |
L130W |
probably damaging |
Het |
| Coro2b |
G |
T |
9: 62,336,243 (GRCm39) |
Y281* |
probably null |
Het |
| Dlk2 |
A |
G |
17: 46,613,903 (GRCm39) |
Y386C |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,659,882 (GRCm39) |
F709I |
probably benign |
Het |
| Efcab3 |
A |
C |
11: 104,997,230 (GRCm39) |
E140A |
probably damaging |
Het |
| Exoc1 |
T |
C |
5: 76,706,854 (GRCm39) |
L467P |
probably damaging |
Het |
| Fkbp2 |
A |
G |
19: 6,955,980 (GRCm39) |
V75A |
probably benign |
Het |
| Glud1 |
T |
C |
14: 34,056,237 (GRCm39) |
F304L |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,175,627 (GRCm39) |
V291E |
probably benign |
Het |
| Itprid2 |
C |
T |
2: 79,473,815 (GRCm39) |
R189* |
probably null |
Het |
| Kap |
A |
G |
6: 133,828,763 (GRCm39) |
|
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,759,689 (GRCm39) |
T720N |
probably damaging |
Het |
| Lrrtm4 |
T |
C |
6: 79,999,071 (GRCm39) |
I161T |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,831,466 (GRCm39) |
L1630* |
probably null |
Het |
| Med13l |
A |
G |
5: 118,885,510 (GRCm39) |
S1488G |
probably benign |
Het |
| Mlxip |
A |
G |
5: 123,578,124 (GRCm39) |
K147E |
probably damaging |
Het |
| Nalcn |
T |
C |
14: 123,558,899 (GRCm39) |
E810G |
possibly damaging |
Het |
| Or2d4 |
A |
G |
7: 106,544,125 (GRCm39) |
F28L |
possibly damaging |
Het |
| Or56a5 |
G |
A |
7: 104,793,473 (GRCm39) |
S15F |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,688 (GRCm39) |
V280A |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,057,266 (GRCm39) |
S804P |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,144,609 (GRCm39) |
|
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Serpina3j |
G |
A |
12: 104,285,960 (GRCm39) |
A372T |
possibly damaging |
Het |
| Slc28a3 |
G |
A |
13: 58,722,063 (GRCm39) |
Q274* |
probably null |
Het |
| Stk36 |
T |
C |
1: 74,662,511 (GRCm39) |
F543S |
possibly damaging |
Het |
| Tfrc |
T |
C |
16: 32,448,930 (GRCm39) |
S690P |
probably damaging |
Het |
| Tg |
C |
A |
15: 66,555,647 (GRCm39) |
Q780K |
probably damaging |
Het |
| Top1 |
T |
A |
2: 160,557,653 (GRCm39) |
H578Q |
probably damaging |
Het |
| Treh |
A |
G |
9: 44,596,634 (GRCm39) |
T463A |
possibly damaging |
Het |
| Treml1 |
G |
A |
17: 48,673,016 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
A |
G |
10: 77,753,568 (GRCm39) |
V1312A |
probably benign |
Het |
| Ttc41 |
T |
A |
10: 86,612,683 (GRCm39) |
*1319K |
probably null |
Het |
| Tulp2 |
A |
G |
7: 45,171,282 (GRCm39) |
I354M |
probably damaging |
Het |
| Usp13 |
A |
T |
3: 32,956,218 (GRCm39) |
M496L |
probably benign |
Het |
| Virma |
T |
C |
4: 11,527,669 (GRCm39) |
S1187P |
possibly damaging |
Het |
| Wdr76 |
T |
A |
2: 121,372,951 (GRCm39) |
C593S |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,252 (GRCm39) |
A97T |
probably damaging |
Het |
|
| Other mutations in Ugt2b35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00703:Ugt2b35
|
APN |
5 |
87,156,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01109:Ugt2b35
|
APN |
5 |
87,156,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01586:Ugt2b35
|
APN |
5 |
87,159,250 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL02151:Ugt2b35
|
APN |
5 |
87,151,141 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02225:Ugt2b35
|
APN |
5 |
87,155,264 (GRCm39) |
splice site |
probably benign |
|
|
IGL02483:Ugt2b35
|
APN |
5 |
87,149,004 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02504:Ugt2b35
|
APN |
5 |
87,149,400 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02690:Ugt2b35
|
APN |
5 |
87,149,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02954:Ugt2b35
|
APN |
5 |
87,159,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0329:Ugt2b35
|
UTSW |
5 |
87,151,264 (GRCm39) |
missense |
probably null |
0.38 |
|
R0513:Ugt2b35
|
UTSW |
5 |
87,151,271 (GRCm39) |
splice site |
probably benign |
|
|
R0571:Ugt2b35
|
UTSW |
5 |
87,148,793 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0827:Ugt2b35
|
UTSW |
5 |
87,155,989 (GRCm39) |
splice site |
probably benign |
|
|
R1396:Ugt2b35
|
UTSW |
5 |
87,159,389 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1437:Ugt2b35
|
UTSW |
5 |
87,148,890 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1557:Ugt2b35
|
UTSW |
5 |
87,155,156 (GRCm39) |
splice site |
probably null |
|
|
R1869:Ugt2b35
|
UTSW |
5 |
87,149,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Ugt2b35
|
UTSW |
5 |
87,149,141 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2067:Ugt2b35
|
UTSW |
5 |
87,149,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Ugt2b35
|
UTSW |
5 |
87,151,191 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3055:Ugt2b35
|
UTSW |
5 |
87,149,457 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3793:Ugt2b35
|
UTSW |
5 |
87,149,465 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4452:Ugt2b35
|
UTSW |
5 |
87,151,237 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4548:Ugt2b35
|
UTSW |
5 |
87,156,134 (GRCm39) |
nonsense |
probably null |
|
|
R4902:Ugt2b35
|
UTSW |
5 |
87,151,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5311:Ugt2b35
|
UTSW |
5 |
87,159,139 (GRCm39) |
nonsense |
probably null |
|
|
R6187:Ugt2b35
|
UTSW |
5 |
87,155,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6332:Ugt2b35
|
UTSW |
5 |
87,149,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6719:Ugt2b35
|
UTSW |
5 |
87,155,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Ugt2b35
|
UTSW |
5 |
87,149,177 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7652:Ugt2b35
|
UTSW |
5 |
87,149,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7766:Ugt2b35
|
UTSW |
5 |
87,149,061 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7825:Ugt2b35
|
UTSW |
5 |
87,149,218 (GRCm39) |
nonsense |
probably null |
|
|
R8188:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8189:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8191:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8192:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8193:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8220:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8288:Ugt2b35
|
UTSW |
5 |
87,149,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8695:Ugt2b35
|
UTSW |
5 |
87,156,064 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8898:Ugt2b35
|
UTSW |
5 |
87,159,189 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8924:Ugt2b35
|
UTSW |
5 |
87,152,780 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8944:Ugt2b35
|
UTSW |
5 |
87,149,310 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9284:Ugt2b35
|
UTSW |
5 |
87,156,140 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation