Incidental Mutation 'R1068:Ugt2b38'
| ID |
86083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b38
|
| Ensembl Gene |
ENSMUSG00000061906 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B38 |
| Synonyms |
9430041C03Rik |
| MMRRC Submission |
039154-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R1068 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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: 97.6%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
T |
18: 69,083,139 (GRCm39) |
V25E |
unknown |
Het |
| Acsm4 |
C |
A |
7: 119,307,933 (GRCm39) |
Q357K |
probably benign |
Het |
| Adam11 |
T |
G |
11: 102,667,204 (GRCm39) |
L619R |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,192,850 (GRCm39) |
N17S |
probably benign |
Het |
| Cfap52 |
T |
C |
11: 67,829,830 (GRCm39) |
H313R |
probably benign |
Het |
| Chsy3 |
A |
T |
18: 59,543,361 (GRCm39) |
H833L |
probably damaging |
Het |
| Csnk1a1 |
G |
T |
18: 61,702,634 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
T |
C |
19: 39,801,025 (GRCm39) |
K77E |
possibly damaging |
Het |
| Dmtf1 |
T |
C |
5: 9,186,109 (GRCm39) |
E159G |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,881,330 (GRCm39) |
V3181I |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,526,801 (GRCm39) |
D99G |
possibly damaging |
Het |
| Garem1 |
T |
C |
18: 21,301,812 (GRCm39) |
E125G |
probably benign |
Het |
| Kcnf1 |
A |
G |
12: 17,225,475 (GRCm39) |
Y249H |
probably damaging |
Het |
| Kit |
C |
T |
5: 75,770,178 (GRCm39) |
H197Y |
probably benign |
Het |
| Memo1 |
T |
A |
17: 74,532,550 (GRCm39) |
I153F |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,224,776 (GRCm39) |
N597I |
possibly damaging |
Het |
| Nop2 |
A |
G |
6: 125,109,242 (GRCm39) |
K23E |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,740,118 (GRCm39) |
V95E |
probably damaging |
Het |
| Pamr1 |
T |
A |
2: 102,472,590 (GRCm39) |
C630S |
probably damaging |
Het |
| Ptprh |
G |
T |
7: 4,552,462 (GRCm39) |
P934Q |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,837,095 (GRCm39) |
|
probably null |
Het |
| Ralyl |
T |
A |
3: 13,841,949 (GRCm39) |
N28K |
probably damaging |
Het |
| Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,061,138 (GRCm39) |
M1K |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Snx19 |
G |
A |
9: 30,340,314 (GRCm39) |
R484Q |
probably damaging |
Het |
| Speer4a1 |
A |
T |
5: 26,241,024 (GRCm39) |
L156Q |
probably null |
Het |
| St18 |
A |
G |
1: 6,865,786 (GRCm39) |
D88G |
probably benign |
Het |
| Syt7 |
T |
C |
19: 10,421,375 (GRCm39) |
Y520H |
probably benign |
Het |
| Taf7l2 |
C |
T |
10: 115,949,359 (GRCm39) |
V56I |
probably damaging |
Het |
| Tle4 |
C |
G |
19: 14,429,543 (GRCm39) |
W674C |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,587,124 (GRCm39) |
Y132N |
probably damaging |
Het |
| Vps11 |
A |
T |
9: 44,264,316 (GRCm39) |
L719Q |
probably damaging |
Het |
| Zc3h4 |
T |
G |
7: 16,163,161 (GRCm39) |
H520Q |
unknown |
Het |
| Zdbf2 |
C |
T |
1: 63,342,589 (GRCm39) |
R323C |
possibly damaging |
Het |
| Zfp616 |
T |
A |
11: 73,973,767 (GRCm39) |
*99K |
probably null |
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 |
|
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 |
|
| 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 |
Incidental Mutation