Incidental Mutation 'IGL02326:Ugt2b38'
ID |
288461 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ugt2b38
|
Ensembl Gene |
ENSMUSG00000061906 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B38 |
Synonyms |
9430041C03Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.080)
|
Stock # |
IGL02326
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87557801-87572062 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87571592 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 147
(D147N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072818]
|
AlphaFold |
Q91WH2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000072818
AA Change: D147N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072598 Gene: ENSMUSG00000061906 AA Change: D147N
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930432M17Rik |
T |
C |
3: 121,465,051 (GRCm39) |
V29A |
unknown |
Het |
Abcc8 |
C |
A |
7: 45,772,281 (GRCm39) |
|
probably null |
Het |
Ankar |
A |
T |
1: 72,705,514 (GRCm39) |
I614N |
probably damaging |
Het |
Ash1l |
G |
A |
3: 88,873,364 (GRCm39) |
R49H |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,671,654 (GRCm39) |
H1123R |
probably damaging |
Het |
Casp12 |
T |
C |
9: 5,358,317 (GRCm39) |
Y375H |
possibly damaging |
Het |
Cbl |
A |
G |
9: 44,062,770 (GRCm39) |
I861T |
possibly damaging |
Het |
Cdh20 |
T |
C |
1: 104,902,764 (GRCm39) |
L485P |
probably damaging |
Het |
Cobl |
A |
T |
11: 12,336,712 (GRCm39) |
N25K |
possibly damaging |
Het |
Col14a1 |
T |
C |
15: 55,282,193 (GRCm39) |
V818A |
unknown |
Het |
Csmd3 |
G |
A |
15: 47,619,359 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
A |
G |
5: 27,869,755 (GRCm39) |
Y509C |
probably damaging |
Het |
Fabp2 |
C |
T |
3: 122,692,395 (GRCm39) |
R96C |
probably damaging |
Het |
Fam53a |
T |
C |
5: 33,757,938 (GRCm39) |
D395G |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 71,858,190 (GRCm39) |
I72K |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,340,964 (GRCm39) |
S4479N |
probably damaging |
Het |
Hrnr |
C |
T |
3: 93,231,052 (GRCm39) |
T430I |
unknown |
Het |
Ighv1-53 |
T |
A |
12: 115,122,235 (GRCm39) |
T47S |
probably benign |
Het |
Ilk |
C |
A |
7: 105,390,840 (GRCm39) |
P261Q |
probably damaging |
Het |
Ints10 |
T |
G |
8: 69,257,485 (GRCm39) |
D228E |
probably damaging |
Het |
Kcnq5 |
A |
T |
1: 21,472,816 (GRCm39) |
S782R |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,467,897 (GRCm39) |
S1046P |
probably damaging |
Het |
Musk |
C |
T |
4: 58,354,113 (GRCm39) |
P374S |
probably benign |
Het |
Or52e18 |
T |
A |
7: 104,609,853 (GRCm39) |
I29F |
probably benign |
Het |
Or5b108 |
C |
A |
19: 13,168,779 (GRCm39) |
Y249* |
probably null |
Het |
Or5j1 |
G |
A |
2: 86,879,355 (GRCm39) |
S75L |
possibly damaging |
Het |
Or5w19 |
T |
A |
2: 87,699,019 (GRCm39) |
I228N |
probably damaging |
Het |
Pkd2 |
T |
C |
5: 104,624,941 (GRCm39) |
Y246H |
probably benign |
Het |
Plekha5 |
G |
T |
6: 140,529,576 (GRCm39) |
G340* |
probably null |
Het |
Plxna4 |
T |
A |
6: 32,129,840 (GRCm39) |
M1828L |
probably damaging |
Het |
Prex1 |
A |
G |
2: 166,463,105 (GRCm39) |
I252T |
probably benign |
Het |
Pura |
A |
G |
18: 36,420,831 (GRCm39) |
D206G |
probably damaging |
Het |
Rad54b |
T |
A |
4: 11,612,713 (GRCm39) |
F782I |
probably damaging |
Het |
Rbp4 |
T |
C |
19: 38,112,563 (GRCm39) |
D90G |
probably damaging |
Het |
Rita1 |
C |
T |
5: 120,747,858 (GRCm39) |
A147T |
probably damaging |
Het |
Scn7a |
C |
A |
2: 66,530,392 (GRCm39) |
R651L |
probably benign |
Het |
Sh2d3c |
A |
T |
2: 32,639,163 (GRCm39) |
|
probably null |
Het |
Slc43a1 |
T |
G |
2: 84,680,115 (GRCm39) |
L87R |
probably damaging |
Het |
Sppl2c |
A |
G |
11: 104,078,099 (GRCm39) |
T300A |
probably benign |
Het |
Srgap2 |
T |
A |
1: 131,284,645 (GRCm39) |
|
probably null |
Het |
Tkt |
G |
A |
14: 30,294,182 (GRCm39) |
V531M |
probably damaging |
Het |
Twsg1 |
T |
C |
17: 66,233,431 (GRCm39) |
D173G |
possibly damaging |
Het |
Ugt2b37 |
G |
T |
5: 87,388,861 (GRCm39) |
H451N |
probably benign |
Het |
Vmn1r15 |
T |
C |
6: 57,235,255 (GRCm39) |
I41T |
probably benign |
Het |
Vwa5a |
A |
T |
9: 38,649,252 (GRCm39) |
T667S |
probably benign |
Het |
Xrn2 |
A |
G |
2: 146,889,633 (GRCm39) |
E672G |
probably benign |
Het |
Zfp235 |
T |
A |
7: 23,834,727 (GRCm39) |
M1K |
probably null |
Het |
Zmym1 |
T |
C |
4: 126,941,553 (GRCm39) |
E847G |
probably damaging |
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 |
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 |
R1073: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 |
|
Posted On |
2015-04-16 |