Incidental Mutation 'R8211:Ugt2b37'
| ID |
636158 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b37
|
| Ensembl Gene |
ENSMUSG00000057425 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B37 |
| Synonyms |
0610033E06Rik |
| MMRRC Submission |
067634-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R8211 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87388351-87402647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87390235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 404
(I404V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075858]
|
| AlphaFold |
Q8VCN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075858
AA Change: I404V
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: I404V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
527 |
5.5e-256 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
328 |
449 |
2.5e-9 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
A |
G |
17: 47,201,309 (GRCm39) |
|
probably benign |
Het |
| Adamtsl3 |
T |
C |
7: 82,172,371 (GRCm39) |
S445P |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,649,345 (GRCm39) |
I304T |
possibly damaging |
Het |
| Alk |
G |
A |
17: 72,176,702 (GRCm39) |
A1534V |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,703,228 (GRCm39) |
P287L |
unknown |
Het |
| Appl1 |
T |
C |
14: 26,667,555 (GRCm39) |
I367V |
probably benign |
Het |
| Arpin |
T |
A |
7: 79,584,992 (GRCm39) |
M1L |
probably damaging |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| B430203G13Rik |
A |
T |
12: 17,974,540 (GRCm39) |
H82L |
noncoding transcript |
Het |
| Bcl11a |
T |
A |
11: 24,028,394 (GRCm39) |
S2T |
probably damaging |
Het |
| Cfap299 |
A |
G |
5: 98,477,294 (GRCm39) |
I28V |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,213,220 (GRCm39) |
M1605L |
unknown |
Het |
| Chga |
C |
A |
12: 102,527,678 (GRCm39) |
Q111K |
possibly damaging |
Het |
| Drc7 |
A |
G |
8: 95,782,707 (GRCm39) |
E24G |
unknown |
Het |
| Dst |
T |
C |
1: 34,251,532 (GRCm39) |
L2195P |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,392,402 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,203,035 (GRCm39) |
L13P |
possibly damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,151 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,199,515 (GRCm39) |
I326T |
probably damaging |
Het |
| Krt26 |
C |
T |
11: 99,226,110 (GRCm39) |
D195N |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,042,024 (GRCm39) |
C37S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,006,408 (GRCm39) |
L1239P |
probably damaging |
Het |
| Mrps5 |
T |
A |
2: 127,445,644 (GRCm39) |
H390Q |
probably benign |
Het |
| Nphp3 |
T |
A |
9: 103,909,096 (GRCm39) |
C769S |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 59,006,620 (GRCm39) |
S1181P |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Pabpc6 |
G |
T |
17: 9,888,386 (GRCm39) |
A55E |
probably damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,131,912 (GRCm39) |
E327V |
possibly damaging |
Het |
| Pds5b |
A |
G |
5: 150,652,407 (GRCm39) |
T225A |
possibly damaging |
Het |
| Pi4ka |
A |
C |
16: 17,100,769 (GRCm39) |
I1807S |
|
Het |
| Pick1 |
T |
A |
15: 79,132,930 (GRCm39) |
I330N |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rubcn |
A |
C |
16: 32,656,913 (GRCm39) |
C502W |
possibly damaging |
Het |
| Slc26a10 |
G |
A |
10: 127,009,834 (GRCm39) |
R571C |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,259,434 (GRCm39) |
N587Y |
probably damaging |
Het |
| Slfn2 |
T |
G |
11: 82,960,585 (GRCm39) |
V188G |
possibly damaging |
Het |
| Smok2b |
T |
C |
17: 13,454,680 (GRCm39) |
V280A |
probably benign |
Het |
| Snx19 |
A |
G |
9: 30,348,761 (GRCm39) |
E798G |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,469,543 (GRCm39) |
|
probably null |
Het |
| Vmn1r160 |
T |
C |
7: 22,570,751 (GRCm39) |
F35L |
possibly damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,286 (GRCm39) |
Y235* |
probably null |
Het |
| Vmn2r53 |
T |
C |
7: 12,315,843 (GRCm39) |
I659V |
probably benign |
Het |
| Vmn2r91 |
A |
G |
17: 18,326,762 (GRCm39) |
D349G |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,806,163 (GRCm39) |
S2299T |
probably benign |
Het |
| Zfp938 |
T |
C |
10: 82,062,419 (GRCm39) |
N67S |
possibly damaging |
Het |
|
| Other mutations in Ugt2b37 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00401:Ugt2b37
|
APN |
5 |
87,390,340 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL00567:Ugt2b37
|
APN |
5 |
87,401,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00787:Ugt2b37
|
APN |
5 |
87,390,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01560:Ugt2b37
|
APN |
5 |
87,399,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01617:Ugt2b37
|
APN |
5 |
87,399,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Ugt2b37
|
APN |
5 |
87,390,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02299:Ugt2b37
|
APN |
5 |
87,390,174 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02323:Ugt2b37
|
APN |
5 |
87,398,423 (GRCm39) |
splice site |
probably benign |
|
|
IGL02326:Ugt2b37
|
APN |
5 |
87,388,861 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02516:Ugt2b37
|
APN |
5 |
87,388,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03285:Ugt2b37
|
APN |
5 |
87,388,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Ugt2b37
|
UTSW |
5 |
87,402,080 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0141:Ugt2b37
|
UTSW |
5 |
87,388,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:Ugt2b37
|
UTSW |
5 |
87,398,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0359:Ugt2b37
|
UTSW |
5 |
87,398,443 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0523:Ugt2b37
|
UTSW |
5 |
87,399,691 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1938:Ugt2b37
|
UTSW |
5 |
87,388,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1962:Ugt2b37
|
UTSW |
5 |
87,402,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2496:Ugt2b37
|
UTSW |
5 |
87,402,569 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3704:Ugt2b37
|
UTSW |
5 |
87,390,846 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4430:Ugt2b37
|
UTSW |
5 |
87,401,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4825:Ugt2b37
|
UTSW |
5 |
87,398,498 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5043:Ugt2b37
|
UTSW |
5 |
87,399,719 (GRCm39) |
nonsense |
probably null |
|
|
R5098:Ugt2b37
|
UTSW |
5 |
87,390,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5174:Ugt2b37
|
UTSW |
5 |
87,399,739 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5522:Ugt2b37
|
UTSW |
5 |
87,388,759 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5879:Ugt2b37
|
UTSW |
5 |
87,402,265 (GRCm39) |
missense |
probably benign |
|
|
R5999:Ugt2b37
|
UTSW |
5 |
87,402,036 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6374:Ugt2b37
|
UTSW |
5 |
87,390,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6454:Ugt2b37
|
UTSW |
5 |
87,388,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6857:Ugt2b37
|
UTSW |
5 |
87,388,705 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6875:Ugt2b37
|
UTSW |
5 |
87,390,288 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6916:Ugt2b37
|
UTSW |
5 |
87,402,459 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7099:Ugt2b37
|
UTSW |
5 |
87,388,848 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7239:Ugt2b37
|
UTSW |
5 |
87,402,590 (GRCm39) |
missense |
probably benign |
|
|
R7470:Ugt2b37
|
UTSW |
5 |
87,401,971 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7810:Ugt2b37
|
UTSW |
5 |
87,402,118 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7841:Ugt2b37
|
UTSW |
5 |
87,398,489 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7860:Ugt2b37
|
UTSW |
5 |
87,402,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7861:Ugt2b37
|
UTSW |
5 |
87,390,299 (GRCm39) |
nonsense |
probably null |
|
|
R8200:Ugt2b37
|
UTSW |
5 |
87,388,750 (GRCm39) |
nonsense |
probably null |
|
|
R8282:Ugt2b37
|
UTSW |
5 |
87,402,440 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8312:Ugt2b37
|
UTSW |
5 |
87,390,799 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8520:Ugt2b37
|
UTSW |
5 |
87,388,714 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8688:Ugt2b37
|
UTSW |
5 |
87,390,240 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8695:Ugt2b37
|
UTSW |
5 |
87,390,243 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8772:Ugt2b37
|
UTSW |
5 |
87,402,345 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8839:Ugt2b37
|
UTSW |
5 |
87,402,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9087:Ugt2b37
|
UTSW |
5 |
87,401,996 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9139:Ugt2b37
|
UTSW |
5 |
87,399,636 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9424:Ugt2b37
|
UTSW |
5 |
87,402,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9432:Ugt2b37
|
UTSW |
5 |
87,402,046 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9498:Ugt2b37
|
UTSW |
5 |
87,402,244 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9711:Ugt2b37
|
UTSW |
5 |
87,402,532 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9718:Ugt2b37
|
UTSW |
5 |
87,390,802 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9783:Ugt2b37
|
UTSW |
5 |
87,388,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTGGCTTTCAGTAAGAAGACAC -3'
(R):5'- TTAGATTCTTCTAGCTCTGAGACAGAG -3'
Sequencing Primer
(F):5'- TTCCTCCAGTGCATTGAG -3'
(R):5'- CTGAGACAGAGAAATATTTCAGTGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation