Incidental Mutation 'R0141:Ugt2b37'
ID |
22310 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b37
|
Ensembl Gene |
ENSMUSG00000057425 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B37 |
Synonyms |
0610033E06Rik |
MMRRC Submission |
038426-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.061)
|
Stock # |
R0141 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
5 |
Chromosomal Location |
87388351-87402647 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 87388842 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 457
(P457L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075858]
|
AlphaFold |
Q8VCN3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075858
AA Change: P457L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075255 Gene: ENSMUSG00000057425 AA Change: P457L
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 |
0.8616 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 89.9%
|
Validation Efficiency |
88% (50/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acot12 |
A |
C |
13: 91,919,947 (GRCm39) |
D294A |
probably benign |
Het |
Adamts9 |
T |
C |
6: 92,920,066 (GRCm39) |
D24G |
probably benign |
Het |
Ahnak |
G |
A |
19: 8,984,044 (GRCm39) |
G1776D |
probably damaging |
Het |
Arfgef3 |
C |
A |
10: 18,473,155 (GRCm39) |
C1636F |
probably damaging |
Het |
AW551984 |
A |
G |
9: 39,501,940 (GRCm39) |
L722P |
probably damaging |
Het |
Ccndbp1 |
T |
A |
2: 120,842,903 (GRCm39) |
M188K |
probably damaging |
Het |
Col27a1 |
A |
T |
4: 63,183,870 (GRCm39) |
|
probably null |
Het |
Cpt1c |
A |
G |
7: 44,616,095 (GRCm39) |
Y306H |
probably damaging |
Het |
Cyp3a57 |
A |
G |
5: 145,298,912 (GRCm39) |
I71V |
probably benign |
Het |
Def8 |
G |
A |
8: 124,183,234 (GRCm39) |
A278T |
probably damaging |
Het |
Dmrt2 |
A |
T |
19: 25,655,655 (GRCm39) |
Q418L |
possibly damaging |
Het |
Ebf1 |
T |
C |
11: 44,798,827 (GRCm39) |
L284S |
probably damaging |
Het |
Fam131a |
G |
A |
16: 20,517,738 (GRCm39) |
A15T |
probably benign |
Het |
Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
Fer1l6 |
A |
G |
15: 58,430,251 (GRCm39) |
E226G |
probably damaging |
Het |
Galnt18 |
A |
T |
7: 111,198,238 (GRCm39) |
I174N |
probably damaging |
Het |
Gm44501 |
T |
C |
17: 40,889,744 (GRCm39) |
I86T |
probably benign |
Het |
Gtsf1l |
T |
C |
2: 162,929,246 (GRCm39) |
Q79R |
probably benign |
Het |
Hapln4 |
T |
C |
8: 70,540,930 (GRCm39) |
L321P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,771,309 (GRCm39) |
T1024A |
probably benign |
Het |
Hps5 |
A |
G |
7: 46,438,605 (GRCm39) |
S43P |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,238,253 (GRCm39) |
Y643H |
probably damaging |
Het |
Lama4 |
G |
A |
10: 38,968,274 (GRCm39) |
R1472H |
probably benign |
Het |
Lhx9 |
A |
G |
1: 138,767,744 (GRCm39) |
Y73H |
possibly damaging |
Het |
Loxl1 |
T |
A |
9: 58,219,415 (GRCm39) |
Q252L |
probably damaging |
Het |
Lrrc37 |
A |
C |
11: 103,504,512 (GRCm39) |
I2485M |
probably damaging |
Het |
Nfat5 |
C |
T |
8: 108,065,707 (GRCm39) |
R156W |
probably damaging |
Het |
Nr3c2 |
T |
A |
8: 77,635,037 (GRCm39) |
V46D |
probably damaging |
Het |
Or11h4 |
T |
C |
14: 50,973,840 (GRCm39) |
S260G |
possibly damaging |
Het |
Or4k77 |
T |
A |
2: 111,199,835 (GRCm39) |
I286N |
probably damaging |
Het |
Or5i1 |
C |
G |
2: 87,613,049 (GRCm39) |
P55R |
possibly damaging |
Het |
Or5p63 |
A |
C |
7: 107,811,210 (GRCm39) |
N175K |
possibly damaging |
Het |
Or5p70 |
A |
T |
7: 107,994,575 (GRCm39) |
N83Y |
probably benign |
Het |
Osbp |
T |
C |
19: 11,951,223 (GRCm39) |
V256A |
possibly damaging |
Het |
Pclo |
A |
T |
5: 14,841,936 (GRCm39) |
D4737V |
unknown |
Het |
Pkdrej |
A |
G |
15: 85,699,831 (GRCm39) |
I2035T |
probably damaging |
Het |
Plek2 |
A |
G |
12: 78,941,278 (GRCm39) |
S185P |
probably damaging |
Het |
Pnpla6 |
G |
T |
8: 3,582,117 (GRCm39) |
|
probably null |
Het |
Pou3f2 |
T |
C |
4: 22,487,210 (GRCm39) |
T308A |
possibly damaging |
Het |
Pramel22 |
T |
C |
4: 143,381,138 (GRCm39) |
Y295C |
probably benign |
Het |
Pxmp4 |
A |
G |
2: 154,434,215 (GRCm39) |
V82A |
probably damaging |
Het |
Rnf6 |
A |
T |
5: 146,148,645 (GRCm39) |
N135K |
possibly damaging |
Het |
Rtl1 |
A |
G |
12: 109,559,382 (GRCm39) |
V819A |
probably damaging |
Het |
Scn1a |
C |
A |
2: 66,119,406 (GRCm39) |
V1355L |
probably damaging |
Het |
Scn2a |
T |
A |
2: 65,542,160 (GRCm39) |
N754K |
probably benign |
Het |
Serpina3b |
A |
T |
12: 104,097,030 (GRCm39) |
N104Y |
probably damaging |
Het |
Sh3rf2 |
T |
C |
18: 42,289,122 (GRCm39) |
S648P |
probably benign |
Het |
Slc17a6 |
G |
A |
7: 51,318,815 (GRCm39) |
V486I |
probably benign |
Het |
Spata31e2 |
A |
T |
1: 26,722,863 (GRCm39) |
N772K |
probably benign |
Het |
Syne2 |
T |
G |
12: 75,988,072 (GRCm39) |
D1743E |
probably damaging |
Het |
Tex14 |
T |
G |
11: 87,383,857 (GRCm39) |
|
probably null |
Het |
Tfb1m |
T |
C |
17: 3,605,232 (GRCm39) |
D87G |
probably damaging |
Het |
Tll2 |
C |
T |
19: 41,086,351 (GRCm39) |
G609S |
probably damaging |
Het |
Tsc22d2 |
A |
T |
3: 58,324,577 (GRCm39) |
|
probably benign |
Het |
Tsen2 |
A |
G |
6: 115,545,790 (GRCm39) |
D360G |
probably damaging |
Het |
Vmn1r68 |
T |
C |
7: 10,261,252 (GRCm39) |
N282S |
possibly damaging |
Het |
Vmn2r58 |
G |
A |
7: 41,511,309 (GRCm39) |
S498F |
probably benign |
Het |
Zfp959 |
T |
C |
17: 56,205,139 (GRCm39) |
I392T |
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 |
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 |
|
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'- GGCTGAAAGTTCATTCATGTGGTGC -3'
(R):5'- TGGGCTGGTGACTTAGCTCTCTAAC -3'
Sequencing Primer
(F):5'- GGTGCATTGACAATGAACTCTACTC -3'
(R):5'- cttgaactcagaaatccgcc -3'
|
Posted On |
2013-04-16 |