Incidental Mutation 'R5999:Ugt2b37'
| ID |
480718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b37
|
| Ensembl Gene |
ENSMUSG00000057425 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B37 |
| Synonyms |
0610033E06Rik |
| MMRRC Submission |
044178-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R5999 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87388351-87402647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 87402036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 198
(I198M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075858]
|
| AlphaFold |
Q8VCN3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075858
AA Change: I198M
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: I198M
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 90.9%
|
| Validation Efficiency |
98% (55/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
G |
12: 84,122,328 (GRCm39) |
D304G |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,093,925 (GRCm39) |
N2149S |
probably damaging |
Het |
| Akp3 |
T |
A |
1: 87,055,263 (GRCm39) |
Y437N |
probably damaging |
Het |
| Anks1b |
C |
T |
10: 90,194,910 (GRCm39) |
T530I |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,176,294 (GRCm39) |
F1799L |
probably damaging |
Het |
| Bnc2 |
C |
T |
4: 84,474,137 (GRCm39) |
R3H |
probably benign |
Het |
| Cald1 |
A |
T |
6: 34,723,273 (GRCm39) |
|
probably benign |
Het |
| Capn9 |
A |
G |
8: 125,315,817 (GRCm39) |
T87A |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,934,613 (GRCm39) |
L175P |
probably damaging |
Het |
| Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,675,742 (GRCm39) |
N310K |
probably benign |
Het |
| Cenpc1 |
T |
A |
5: 86,160,122 (GRCm39) |
K905N |
probably damaging |
Het |
| Cept1 |
A |
T |
3: 106,440,759 (GRCm39) |
D133E |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,594,955 (GRCm39) |
H1381R |
possibly damaging |
Het |
| Col4a4 |
T |
A |
1: 82,470,340 (GRCm39) |
T730S |
unknown |
Het |
| Col6a4 |
A |
T |
9: 105,945,120 (GRCm39) |
M998K |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,516 (GRCm39) |
V119A |
probably benign |
Het |
| Ddx54 |
G |
T |
5: 120,761,645 (GRCm39) |
A474S |
probably benign |
Het |
| Dmbx1 |
G |
T |
4: 115,775,373 (GRCm39) |
N302K |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,882,279 (GRCm39) |
E617G |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,704,603 (GRCm39) |
V10A |
probably benign |
Het |
| Elp3 |
A |
G |
14: 65,768,989 (GRCm39) |
V543A |
probably benign |
Het |
| Frmd3 |
T |
C |
4: 74,088,928 (GRCm39) |
I375T |
possibly damaging |
Het |
| Gm6408 |
A |
G |
5: 146,421,067 (GRCm39) |
D232G |
possibly damaging |
Het |
| Inmt |
A |
T |
6: 55,151,933 (GRCm39) |
Y12* |
probably null |
Het |
| Inpp5k |
G |
T |
11: 75,523,926 (GRCm39) |
A44S |
probably damaging |
Het |
| Kalrn |
T |
A |
16: 34,177,713 (GRCm39) |
T169S |
probably damaging |
Het |
| Kif28 |
A |
T |
1: 179,523,355 (GRCm39) |
F992I |
probably damaging |
Het |
| Kmt2c |
A |
T |
5: 25,489,203 (GRCm39) |
Y1199N |
probably damaging |
Het |
| Large2 |
C |
T |
2: 92,196,403 (GRCm39) |
E475K |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,942,366 (GRCm39) |
|
probably null |
Het |
| Mrpl42 |
T |
C |
10: 95,336,341 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,411,116 (GRCm39) |
H1354L |
unknown |
Het |
| Myof |
C |
A |
19: 37,928,304 (GRCm39) |
E1095* |
probably null |
Het |
| Ncor2 |
A |
G |
5: 125,110,505 (GRCm39) |
V1385A |
probably damaging |
Het |
| Nr5a2 |
T |
C |
1: 136,773,280 (GRCm39) |
Y474C |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,322 (GRCm39) |
D178G |
probably damaging |
Het |
| Or5a21 |
C |
T |
19: 12,311,008 (GRCm39) |
D71N |
probably damaging |
Het |
| Or5l13 |
A |
T |
2: 87,780,145 (GRCm39) |
|
probably null |
Het |
| Pogz |
A |
G |
3: 94,763,428 (GRCm39) |
T67A |
possibly damaging |
Het |
| Prep |
T |
A |
10: 44,948,225 (GRCm39) |
|
probably null |
Het |
| Prf1 |
A |
G |
10: 61,138,807 (GRCm39) |
D255G |
probably damaging |
Het |
| Psme2 |
A |
G |
14: 55,827,539 (GRCm39) |
L24P |
probably damaging |
Het |
| Scmh1 |
T |
A |
4: 120,362,712 (GRCm39) |
|
probably null |
Het |
| Scpep1 |
A |
G |
11: 88,820,139 (GRCm39) |
V383A |
possibly damaging |
Het |
| Slc4a10 |
A |
T |
2: 62,073,775 (GRCm39) |
N279I |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,245,126 (GRCm39) |
S1498G |
probably benign |
Het |
| Spinkl |
C |
A |
18: 44,301,206 (GRCm39) |
S44I |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tle5 |
T |
C |
10: 81,397,098 (GRCm39) |
S25P |
probably damaging |
Het |
| Tmem213 |
A |
G |
6: 38,086,386 (GRCm39) |
Q14R |
probably benign |
Het |
| Tns1 |
A |
T |
1: 73,967,256 (GRCm39) |
Y1172* |
probably null |
Het |
| Usp17lb |
A |
C |
7: 104,489,552 (GRCm39) |
I457M |
probably damaging |
Het |
| Usp6nl |
G |
T |
2: 6,446,150 (GRCm39) |
R709L |
probably damaging |
Het |
| Zer1 |
A |
G |
2: 29,995,009 (GRCm39) |
L462P |
probably damaging |
Het |
| Zfhx2 |
A |
G |
14: 55,311,462 (GRCm39) |
S411P |
probably benign |
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 |
|
|
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 |
|
|
R8211:Ugt2b37
|
UTSW |
5 |
87,390,235 (GRCm39) |
missense |
probably benign |
0.07 |
|
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'- CAGTACTGATACCGATACCTTCTC -3'
(R):5'- GCTCATGACAAAGCTACAGGAATC -3'
Sequencing Primer
(F):5'- CACTTGTGAAACTTAGGTATTCAAGC -3'
(R):5'- CAAAGTTTGATGTCCTTTTGTCAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation