Incidental Mutation 'R1073:Ugt2b38'
ID |
85520 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b38
|
Ensembl Gene |
ENSMUSG00000061906 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B38 |
Synonyms |
9430041C03Rik |
MMRRC Submission |
039159-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
R1073 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87557801-87572062 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 87560232 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Histidine
at position 361
(N361H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072818]
|
AlphaFold |
Q91WH2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072818
AA Change: N361H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072598 Gene: ENSMUSG00000061906 AA Change: N361H
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
527 |
4.1e-255 |
PFAM |
Pfam:Glyco_tran_28_C
|
330 |
444 |
1.2e-7 |
PFAM |
|
Meta Mutation Damage Score |
0.8618 |
Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
Validation Efficiency |
98% (40/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
Ncl |
AAAGCCTCCC |
AAAGCCTCCCAAGCCTCCC |
1: 86,278,538 (GRCm39) |
|
probably benign |
Het |
Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Ugt2b38 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00959:Ugt2b38
|
APN |
5 |
87,559,682 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02326:Ugt2b38
|
APN |
5 |
87,571,592 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02537:Ugt2b38
|
APN |
5 |
87,569,590 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02543:Ugt2b38
|
APN |
5 |
87,571,342 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02852:Ugt2b38
|
APN |
5 |
87,559,600 (GRCm39) |
missense |
probably benign |
|
IGL03008:Ugt2b38
|
APN |
5 |
87,560,282 (GRCm39) |
missense |
probably benign |
0.00 |
over_easy
|
UTSW |
5 |
87,571,601 (GRCm39) |
missense |
probably benign |
0.25 |
R0089:Ugt2b38
|
UTSW |
5 |
87,568,417 (GRCm39) |
missense |
probably benign |
0.00 |
R0647:Ugt2b38
|
UTSW |
5 |
87,571,328 (GRCm39) |
missense |
probably benign |
0.00 |
R0731:Ugt2b38
|
UTSW |
5 |
87,568,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R0837:Ugt2b38
|
UTSW |
5 |
87,559,632 (GRCm39) |
missense |
probably damaging |
1.00 |
R0966:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0969:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0970:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0971:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1068:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1070:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1071:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1133:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1134:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1367:Ugt2b38
|
UTSW |
5 |
87,571,973 (GRCm39) |
missense |
probably benign |
0.11 |
R1383:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1467:Ugt2b38
|
UTSW |
5 |
87,560,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1565:Ugt2b38
|
UTSW |
5 |
87,559,773 (GRCm39) |
missense |
probably damaging |
0.99 |
R1691:Ugt2b38
|
UTSW |
5 |
87,571,991 (GRCm39) |
missense |
probably benign |
|
R1725:Ugt2b38
|
UTSW |
5 |
87,559,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R1736:Ugt2b38
|
UTSW |
5 |
87,571,492 (GRCm39) |
missense |
probably benign |
|
R2230:Ugt2b38
|
UTSW |
5 |
87,569,527 (GRCm39) |
missense |
probably benign |
0.05 |
R2419:Ugt2b38
|
UTSW |
5 |
87,571,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R2496:Ugt2b38
|
UTSW |
5 |
87,569,551 (GRCm39) |
missense |
probably damaging |
1.00 |
R3196:Ugt2b38
|
UTSW |
5 |
87,558,078 (GRCm39) |
missense |
probably damaging |
0.96 |
R3773:Ugt2b38
|
UTSW |
5 |
87,571,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R5125:Ugt2b38
|
UTSW |
5 |
87,559,671 (GRCm39) |
missense |
probably damaging |
1.00 |
R5224:Ugt2b38
|
UTSW |
5 |
87,571,601 (GRCm39) |
missense |
probably benign |
0.25 |
R5516:Ugt2b38
|
UTSW |
5 |
87,559,702 (GRCm39) |
missense |
probably damaging |
1.00 |
R5765:Ugt2b38
|
UTSW |
5 |
87,571,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R6352:Ugt2b38
|
UTSW |
5 |
87,571,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7166:Ugt2b38
|
UTSW |
5 |
87,558,305 (GRCm39) |
missense |
probably damaging |
1.00 |
R7210:Ugt2b38
|
UTSW |
5 |
87,558,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R7291:Ugt2b38
|
UTSW |
5 |
87,559,754 (GRCm39) |
missense |
probably damaging |
1.00 |
R7483:Ugt2b38
|
UTSW |
5 |
87,571,973 (GRCm39) |
missense |
probably damaging |
0.96 |
R7969:Ugt2b38
|
UTSW |
5 |
87,571,891 (GRCm39) |
missense |
probably benign |
0.02 |
R8118:Ugt2b38
|
UTSW |
5 |
87,571,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R8239:Ugt2b38
|
UTSW |
5 |
87,571,659 (GRCm39) |
missense |
probably benign |
0.02 |
R8676:Ugt2b38
|
UTSW |
5 |
87,559,681 (GRCm39) |
missense |
probably benign |
0.12 |
R9178:Ugt2b38
|
UTSW |
5 |
87,568,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R9193:Ugt2b38
|
UTSW |
5 |
87,571,729 (GRCm39) |
missense |
probably benign |
0.05 |
R9566:Ugt2b38
|
UTSW |
5 |
87,558,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGGCCCCACCATGAGTTACAAAG -3'
(R):5'- GGCACACTCGTTGCTCAGTCTT -3'
Sequencing Primer
(F):5'- CTCTGTCTCAGAGCTAGAAGAATC -3'
(R):5'- cacacacacacacacacac -3'
|
Posted On |
2013-11-18 |