Incidental Mutation 'V8831:Ugt2b34'
| ID |
44611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b34
|
| Ensembl Gene |
ENSMUSG00000029260 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B34 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.147)
|
| Stock # |
V8831 ()
of strain
710
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87037626-87054796 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87054533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 83
(Y83N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108959
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031181]
[ENSMUST00000113333]
|
| AlphaFold |
Q8K154 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031181
AA Change: Y83N
PolyPhen 2
Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031181
Gene: ENSMUSG00000029260
AA Change: Y83N
| 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: Y83N
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000108959
Gene: ENSMUSG00000029260
AA Change: Y83N
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsa1 |
A |
G |
12: 87,316,697 (GRCm39) |
N107S |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,347,371 (GRCm39) |
I690V |
probably benign |
Het |
| Bard1 |
G |
A |
1: 71,127,376 (GRCm39) |
P78S |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,583,185 (GRCm39) |
T976I |
unknown |
Het |
| Cdc7 |
T |
A |
5: 107,116,776 (GRCm39) |
N50K |
probably benign |
Het |
| Cep85 |
C |
T |
4: 133,883,380 (GRCm39) |
E170K |
possibly damaging |
Het |
| Cpsf2 |
C |
T |
12: 101,969,400 (GRCm39) |
R757C |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 48,321,092 (GRCm39) |
D239E |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,458 (GRCm39) |
Y4022* |
probably null |
Het |
| Elmo3 |
A |
G |
8: 106,033,693 (GRCm39) |
N179S |
probably benign |
Het |
| H2bc11 |
G |
C |
13: 22,227,451 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
A |
17: 36,328,216 (GRCm39) |
Q89L |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,459,365 (GRCm39) |
I327T |
probably damaging |
Het |
| Itpr2 |
A |
T |
6: 146,287,380 (GRCm39) |
L157Q |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,059,878 (GRCm39) |
D656N |
probably benign |
Het |
| Lrrc72 |
G |
T |
12: 36,258,656 (GRCm39) |
T67K |
possibly damaging |
Het |
| Map2 |
T |
G |
1: 66,455,004 (GRCm39) |
I1298S |
probably damaging |
Het |
| Mroh2a |
T |
TN |
1: 88,183,889 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
G |
A |
18: 60,835,999 (GRCm39) |
A428V |
probably damaging |
Het |
| Obsl1 |
G |
A |
1: 75,486,756 (GRCm38) |
T1764M |
probably benign |
Het |
| Or2w1b |
T |
C |
13: 21,300,173 (GRCm39) |
Y104H |
possibly damaging |
Het |
| Or5k14 |
G |
T |
16: 58,693,438 (GRCm39) |
T25K |
probably benign |
Het |
| Or5p4 |
C |
T |
7: 107,680,742 (GRCm39) |
A247V |
probably benign |
Het |
| Plxna1 |
A |
G |
6: 89,334,119 (GRCm39) |
V170A |
probably damaging |
Het |
| Rfx6 |
G |
A |
10: 51,594,304 (GRCm39) |
|
probably null |
Het |
| Shprh |
G |
A |
10: 11,062,606 (GRCm39) |
D1238N |
probably damaging |
Het |
| Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,398,262 (GRCm39) |
I676F |
possibly damaging |
Het |
| Smoc1 |
A |
G |
12: 81,215,029 (GRCm39) |
D305G |
probably damaging |
Het |
| Spdef |
C |
T |
17: 27,937,051 (GRCm39) |
R184H |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,371,497 (GRCm39) |
A535T |
probably benign |
Het |
| Tcp11l1 |
C |
G |
2: 104,515,829 (GRCm39) |
V345L |
probably benign |
Het |
| Ticam1 |
TC |
T |
17: 56,576,969 (GRCm39) |
708 |
probably null |
Het |
| Ttc28 |
A |
T |
5: 111,248,578 (GRCm39) |
Y177F |
probably benign |
Het |
| Vmn2r30 |
G |
A |
7: 7,337,148 (GRCm39) |
R163C |
probably benign |
Het |
| Xirp1 |
T |
G |
9: 120,016,907 (GRCm38) |
Q970P |
probably benign |
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 |
|
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 |
|
Z1177:Ugt2b34
|
UTSW |
5 |
87,054,578 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGATCTGCCAGGATCACATCAAACC -3'
(R):5'- GCCTGTGAAAATGACAGCAGCC -3'
Sequencing Primer
(F):5'- CACATCAAACCTTGATTTTTGTAGC -3'
(R):5'- ATGACAGCAGCCCTGCTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation