Incidental Mutation 'R6352:Ugt2b38'
| ID |
513277 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b38
|
| Ensembl Gene |
ENSMUSG00000061906 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B38 |
| Synonyms |
9430041C03Rik |
| MMRRC Submission |
044504-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R6352 (G1)
|
| Quality Score |
182.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87557801-87572062 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87571860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 57
(R57S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072818]
|
| AlphaFold |
Q91WH2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072818
AA Change: R57S
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: R57S
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
C |
17: 48,347,945 (GRCm39) |
S120G |
probably benign |
Het |
| Abca13 |
G |
A |
11: 9,259,139 (GRCm39) |
|
probably null |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Adgra3 |
T |
A |
5: 50,136,478 (GRCm39) |
D669V |
probably benign |
Het |
| Adgra3 |
T |
A |
5: 50,147,592 (GRCm39) |
M483L |
probably benign |
Het |
| Ccdc42 |
T |
C |
11: 68,485,191 (GRCm39) |
V88A |
probably damaging |
Het |
| Cdh16 |
G |
C |
8: 105,343,624 (GRCm39) |
S624C |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,616,219 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,822,241 (GRCm39) |
T1795A |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,339,053 (GRCm39) |
V3098I |
probably damaging |
Het |
| Fbxl16 |
T |
C |
17: 26,037,919 (GRCm39) |
L426P |
probably damaging |
Het |
| Flt4 |
T |
C |
11: 49,534,333 (GRCm39) |
I1168T |
probably benign |
Het |
| Fmo5 |
T |
C |
3: 97,552,991 (GRCm39) |
V313A |
probably benign |
Het |
| Foxj3 |
A |
G |
4: 119,442,975 (GRCm39) |
N133S |
probably damaging |
Het |
| Gbp8 |
T |
C |
5: 105,162,926 (GRCm39) |
I489M |
possibly damaging |
Het |
| Gm10801 |
TC |
TCGAC |
2: 98,494,151 (GRCm39) |
|
probably benign |
Het |
| Hdgfl1 |
T |
G |
13: 26,953,733 (GRCm39) |
E113D |
probably benign |
Het |
| Heatr5a |
A |
T |
12: 51,997,949 (GRCm39) |
S317T |
possibly damaging |
Het |
| Hycc2 |
A |
G |
1: 58,596,471 (GRCm39) |
V38A |
probably damaging |
Het |
| Insr |
C |
T |
8: 3,223,479 (GRCm39) |
|
probably null |
Het |
| Iqcf5 |
A |
G |
9: 106,392,929 (GRCm39) |
E62G |
possibly damaging |
Het |
| Kcnj3 |
G |
A |
2: 55,327,561 (GRCm39) |
V117I |
probably benign |
Het |
| Klf9 |
T |
A |
19: 23,119,138 (GRCm39) |
M7K |
probably benign |
Het |
| Mboat1 |
G |
A |
13: 30,386,403 (GRCm39) |
G139E |
possibly damaging |
Het |
| Mical3 |
T |
C |
6: 120,929,434 (GRCm39) |
T1811A |
probably damaging |
Het |
| Mllt10 |
A |
C |
2: 18,128,604 (GRCm39) |
K117T |
probably damaging |
Het |
| Mpped1 |
A |
G |
15: 83,720,564 (GRCm39) |
D8G |
probably damaging |
Het |
| Myh4 |
A |
T |
11: 67,143,108 (GRCm39) |
D1012V |
probably damaging |
Het |
| Myo9b |
C |
A |
8: 71,801,054 (GRCm39) |
P1070T |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,801,055 (GRCm39) |
P1071L |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,072,527 (GRCm39) |
I439F |
probably damaging |
Het |
| Nlrp9a |
T |
A |
7: 26,257,051 (GRCm39) |
I134N |
probably damaging |
Het |
| Nop2 |
C |
T |
6: 125,114,170 (GRCm39) |
T212M |
probably benign |
Het |
| Notch4 |
T |
C |
17: 34,786,435 (GRCm39) |
C188R |
probably damaging |
Het |
| Or10q12 |
A |
T |
19: 13,745,828 (GRCm39) |
M41L |
probably benign |
Het |
| Or2ag19 |
G |
T |
7: 106,444,429 (GRCm39) |
V204F |
probably damaging |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Plet1 |
T |
C |
9: 50,412,407 (GRCm39) |
S142P |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,887,816 (GRCm39) |
W539R |
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,009,789 (GRCm39) |
|
probably null |
Het |
| Rgs22 |
T |
G |
15: 36,093,067 (GRCm39) |
Q402P |
probably damaging |
Het |
| Rpl10a |
T |
C |
17: 28,549,820 (GRCm39) |
V167A |
possibly damaging |
Het |
| Sdr16c5 |
A |
G |
4: 4,016,421 (GRCm39) |
S2P |
probably benign |
Het |
| Slc14a2 |
T |
C |
18: 78,252,309 (GRCm39) |
M1V |
probably null |
Het |
| Spta1 |
T |
A |
1: 174,039,212 (GRCm39) |
M1185K |
possibly damaging |
Het |
| Syde2 |
G |
T |
3: 145,704,229 (GRCm39) |
E127* |
probably null |
Het |
| Thoc2l |
A |
G |
5: 104,668,064 (GRCm39) |
E862G |
probably benign |
Het |
| Wdr11 |
C |
T |
7: 129,208,399 (GRCm39) |
L385F |
possibly damaging |
Het |
| Wdr74 |
T |
C |
19: 8,716,822 (GRCm39) |
V200A |
possibly 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 |
|
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 |
|
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 |
|
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'- TCCTGTAGCTTTGTCATGAGC -3'
(R):5'- ATGCCTGGAAAGTGGATTTCTGC -3'
Sequencing Primer
(F):5'- TGTCATGAGCTCTTTGTTTGAAAC -3'
(R):5'- AAAGTGGATTTCTGCTCTGCTGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation