Incidental Mutation 'R1029:Ugt2b34'
ID |
95129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b34
|
Ensembl Gene |
ENSMUSG00000029260 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B34 |
Synonyms |
|
MMRRC Submission |
039131-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.132)
|
Stock # |
R1029 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to C
at 87052246 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 250
(S250*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000108959
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031181]
[ENSMUST00000113333]
|
AlphaFold |
Q8K154 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031181
AA Change: S250*
|
SMART Domains |
Protein: ENSMUSP00000031181 Gene: ENSMUSG00000029260 AA Change: S250*
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 null
Transcript: ENSMUST00000113333
AA Change: S250*
|
SMART Domains |
Protein: ENSMUSP00000108959 Gene: ENSMUSG00000029260 AA Change: S250*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.5%
|
Validation Efficiency |
92% (36/39) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
A |
G |
11: 30,376,177 (GRCm39) |
L230S |
probably damaging |
Het |
4930505A04Rik |
A |
G |
11: 30,396,389 (GRCm39) |
|
probably benign |
Het |
Atg2b |
A |
G |
12: 105,602,032 (GRCm39) |
I1648T |
probably damaging |
Het |
Ccdc110 |
T |
C |
8: 46,394,817 (GRCm39) |
F236S |
probably damaging |
Het |
Ccdc178 |
T |
C |
18: 22,230,782 (GRCm39) |
D363G |
possibly damaging |
Het |
Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
Cog7 |
C |
T |
7: 121,529,752 (GRCm39) |
|
probably null |
Het |
Dnah7c |
A |
G |
1: 46,651,881 (GRCm39) |
K1365E |
probably damaging |
Het |
Dock9 |
T |
C |
14: 121,837,096 (GRCm39) |
|
probably null |
Het |
Ehd3 |
T |
A |
17: 74,123,321 (GRCm39) |
I108N |
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,348,773 (GRCm39) |
S535P |
probably damaging |
Het |
Fam170a |
T |
C |
18: 50,414,741 (GRCm39) |
V129A |
probably damaging |
Het |
Gfra3 |
T |
C |
18: 34,823,892 (GRCm39) |
T361A |
probably benign |
Het |
Gm10295 |
A |
T |
7: 71,000,448 (GRCm39) |
I44K |
unknown |
Het |
Gm10553 |
T |
C |
1: 85,078,170 (GRCm39) |
S96P |
probably benign |
Het |
Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
Hspa13 |
A |
T |
16: 75,562,125 (GRCm39) |
Y25N |
probably damaging |
Het |
Lrfn3 |
G |
A |
7: 30,055,347 (GRCm39) |
P533S |
probably damaging |
Het |
Lrp4 |
A |
G |
2: 91,317,372 (GRCm39) |
|
probably benign |
Het |
Mical3 |
T |
C |
6: 120,911,639 (GRCm39) |
D1991G |
probably benign |
Het |
Myoz1 |
A |
G |
14: 20,700,600 (GRCm39) |
Y206H |
probably damaging |
Het |
Or2at1 |
A |
T |
7: 99,416,431 (GRCm39) |
I21F |
probably benign |
Het |
Otog |
A |
G |
7: 45,924,019 (GRCm39) |
E1126G |
probably damaging |
Het |
Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
Prkdc |
A |
G |
16: 15,472,613 (GRCm39) |
|
probably benign |
Het |
Pttg1ip2 |
C |
T |
5: 5,505,919 (GRCm39) |
A121T |
probably benign |
Het |
Rab7 |
A |
G |
6: 87,990,624 (GRCm39) |
S17P |
probably damaging |
Het |
Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
Sppl2a |
A |
G |
2: 126,765,514 (GRCm39) |
S203P |
probably benign |
Het |
Taar7a |
A |
G |
10: 23,868,439 (GRCm39) |
I314T |
possibly damaging |
Het |
Tgs1 |
T |
C |
4: 3,593,471 (GRCm39) |
I453T |
probably damaging |
Het |
Tmem117 |
C |
A |
15: 94,909,217 (GRCm39) |
T210N |
probably benign |
Het |
Trim55 |
A |
G |
3: 19,698,906 (GRCm39) |
N45S |
probably damaging |
Het |
Vmn2r67 |
G |
A |
7: 84,785,974 (GRCm39) |
T677I |
probably damaging |
Het |
Zfp335 |
C |
G |
2: 164,734,598 (GRCm39) |
|
probably benign |
Het |
Znrf1 |
T |
A |
8: 112,263,986 (GRCm39) |
Y72N |
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 |
R0825:Ugt2b34
|
UTSW |
5 |
87,054,560 (GRCm39) |
missense |
possibly damaging |
0.64 |
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'- CATGTTCGAAATGCAAGGCACCAG -3'
(R):5'- AGCACACATCAAGGTTCTAGCTGC -3'
Sequencing Primer
(F):5'- GCAAGGCACCAGAAGCAAG -3'
(R):5'- ttcaaatactacacacattcaaacac -3'
|
Posted On |
2014-01-05 |