Incidental Mutation 'R0825:Ugt2b34'
| ID |
78175 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b34
|
| Ensembl Gene |
ENSMUSG00000029260 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B34 |
| Synonyms |
|
| MMRRC Submission |
039005-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
R0825 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87054560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 74
(I74V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031181]
[ENSMUST00000113333]
|
| AlphaFold |
Q8K154 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031181
AA Change: I74V
PolyPhen 2
Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
529 |
2.4e-253 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
331 |
456 |
3.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113333
AA Change: I74V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: I74V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
26 |
440 |
5.7e-190 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
344 |
440 |
1.1e-8 |
PFAM |
|
| Meta Mutation Damage Score |
0.0936 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.4%
- 20x: 91.4%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,619,551 (GRCm39) |
I963N |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,288,068 (GRCm39) |
D727G |
possibly damaging |
Het |
| Arhgef26 |
T |
A |
3: 62,334,014 (GRCm39) |
I590N |
probably damaging |
Het |
| Arid1b |
T |
G |
17: 5,392,453 (GRCm39) |
C1994W |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,777,825 (GRCm39) |
I2628T |
probably benign |
Het |
| Clspn |
G |
A |
4: 126,466,923 (GRCm39) |
|
probably benign |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,341 (GRCm39) |
T375S |
probably benign |
Het |
| Dmtf1 |
A |
T |
5: 9,180,388 (GRCm39) |
M226K |
probably damaging |
Het |
| Erap1 |
T |
C |
13: 74,822,733 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
A |
G |
4: 45,285,394 (GRCm39) |
D1405G |
possibly damaging |
Het |
| Gfm2 |
A |
T |
13: 97,279,612 (GRCm39) |
|
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,428,776 (GRCm39) |
V267A |
probably damaging |
Het |
| Golga2 |
A |
C |
2: 32,194,803 (GRCm39) |
Q650P |
probably damaging |
Het |
| Hmgcl |
A |
G |
4: 135,687,381 (GRCm39) |
T219A |
probably benign |
Het |
| Ift27 |
C |
A |
15: 78,049,336 (GRCm39) |
|
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,890,864 (GRCm39) |
E2379K |
probably damaging |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kpnb1 |
A |
T |
11: 97,062,501 (GRCm39) |
S421R |
probably damaging |
Het |
| Minar1 |
G |
A |
9: 89,485,332 (GRCm39) |
Q22* |
probably null |
Het |
| Mtx3 |
C |
A |
13: 92,986,849 (GRCm39) |
T264K |
probably damaging |
Het |
| Nrg3 |
G |
A |
14: 39,194,348 (GRCm39) |
P137L |
possibly damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,887,344 (GRCm39) |
|
probably benign |
Het |
| Or2y1e |
T |
A |
11: 49,218,509 (GRCm39) |
H90Q |
probably benign |
Het |
| Or5ac17 |
G |
T |
16: 59,036,813 (GRCm39) |
H54Q |
possibly damaging |
Het |
| Pcdhb2 |
G |
A |
18: 37,428,710 (GRCm39) |
V228I |
possibly damaging |
Het |
| Pdcd5 |
G |
A |
7: 35,346,338 (GRCm39) |
R91W |
possibly damaging |
Het |
| Pxdn |
G |
A |
12: 30,034,995 (GRCm39) |
|
probably benign |
Het |
| Rgl2 |
T |
A |
17: 34,154,133 (GRCm39) |
|
probably null |
Het |
| Rnf217 |
T |
C |
10: 31,393,453 (GRCm39) |
D376G |
probably damaging |
Het |
| Septin9 |
C |
T |
11: 117,250,286 (GRCm39) |
L519F |
probably damaging |
Het |
| Slc15a5 |
C |
T |
6: 137,995,087 (GRCm39) |
C386Y |
possibly damaging |
Het |
| Srrm4 |
T |
A |
5: 116,591,772 (GRCm39) |
I256F |
unknown |
Het |
| Stab1 |
G |
T |
14: 30,874,557 (GRCm39) |
D950E |
probably benign |
Het |
| Stim2 |
A |
G |
5: 54,275,825 (GRCm39) |
T667A |
probably benign |
Het |
| Strbp |
A |
T |
2: 37,525,539 (GRCm39) |
N144K |
probably benign |
Het |
| Sync |
A |
G |
4: 129,187,190 (GRCm39) |
Y74C |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,195,380 (GRCm39) |
M587K |
possibly damaging |
Het |
| Tgfbi |
T |
C |
13: 56,786,523 (GRCm39) |
|
probably benign |
Het |
| Tmf1 |
A |
T |
6: 97,152,956 (GRCm39) |
N372K |
probably benign |
Het |
| Ubr4 |
G |
T |
4: 139,206,887 (GRCm39) |
|
probably null |
Het |
| Uggt1 |
A |
T |
1: 36,197,224 (GRCm39) |
N1226K |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,017,917 (GRCm39) |
L2541P |
probably damaging |
Het |
| Zfhx3 |
T |
G |
8: 109,675,840 (GRCm39) |
F2297V |
probably damaging |
Het |
|
| Other mutations in Ugt2b34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00488:Ugt2b34
|
APN |
5 |
87,040,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00498:Ugt2b34
|
APN |
5 |
87,049,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00710:Ugt2b34
|
APN |
5 |
87,054,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01089:Ugt2b34
|
APN |
5 |
87,054,185 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01090:Ugt2b34
|
APN |
5 |
87,041,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Ugt2b34
|
APN |
5 |
87,049,062 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01343:Ugt2b34
|
APN |
5 |
87,052,247 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01410:Ugt2b34
|
APN |
5 |
87,040,689 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL01419:Ugt2b34
|
APN |
5 |
87,039,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01986:Ugt2b34
|
APN |
5 |
87,049,111 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02702:Ugt2b34
|
APN |
5 |
87,040,750 (GRCm39) |
missense |
probably benign |
0.21 |
|
IGL02725:Ugt2b34
|
APN |
5 |
87,054,284 (GRCm39) |
missense |
probably benign |
|
|
IGL02810:Ugt2b34
|
APN |
5 |
87,054,383 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03199:Ugt2b34
|
APN |
5 |
87,054,739 (GRCm39) |
missense |
unknown |
|
|
IGL03335:Ugt2b34
|
APN |
5 |
87,054,499 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL03355:Ugt2b34
|
APN |
5 |
87,054,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0624:Ugt2b34
|
UTSW |
5 |
87,041,591 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0707:Ugt2b34
|
UTSW |
5 |
87,040,758 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1029:Ugt2b34
|
UTSW |
5 |
87,052,246 (GRCm39) |
nonsense |
probably null |
|
|
R1857:Ugt2b34
|
UTSW |
5 |
87,052,241 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1982:Ugt2b34
|
UTSW |
5 |
87,054,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2032:Ugt2b34
|
UTSW |
5 |
87,039,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Ugt2b34
|
UTSW |
5 |
87,054,416 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4439:Ugt2b34
|
UTSW |
5 |
87,040,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Ugt2b34
|
UTSW |
5 |
87,039,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5046:Ugt2b34
|
UTSW |
5 |
87,052,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5304:Ugt2b34
|
UTSW |
5 |
87,040,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5543:Ugt2b34
|
UTSW |
5 |
87,054,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6235:Ugt2b34
|
UTSW |
5 |
87,054,223 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6841:Ugt2b34
|
UTSW |
5 |
87,040,675 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7459:Ugt2b34
|
UTSW |
5 |
87,049,134 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7624:Ugt2b34
|
UTSW |
5 |
87,039,141 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8316:Ugt2b34
|
UTSW |
5 |
87,039,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8939:Ugt2b34
|
UTSW |
5 |
87,039,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9602:Ugt2b34
|
UTSW |
5 |
87,054,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
V8831:Ugt2b34
|
UTSW |
5 |
87,054,533 (GRCm39) |
missense |
probably benign |
0.39 |
|
Z1177:Ugt2b34
|
UTSW |
5 |
87,054,578 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGATCTGCCAGGATCACATCAAAC -3'
(R):5'- GCCTGTGAAAATGACAGCAGCC -3'
Sequencing Primer
(F):5'- CACATCAAACCTTGATTTTTGTAGC -3'
(R):5'- ATGACAGCAGCCCTGCTC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation