Incidental Mutation 'R6875:Ugt2b37'
ID |
536363 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b37
|
Ensembl Gene |
ENSMUSG00000057425 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B37 |
Synonyms |
0610033E06Rik |
MMRRC Submission |
044971-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R6875 (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 A
at 87390288 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 386
(Y386F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075858]
|
AlphaFold |
Q8VCN3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075858
AA Change: Y386F
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000075255 Gene: ENSMUSG00000057425 AA Change: Y386F
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 |
0.5482 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
Validation Efficiency |
98% (58/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
T |
C |
15: 12,812,154 (GRCm39) |
H270R |
probably damaging |
Het |
Abcb1a |
T |
C |
5: 8,751,628 (GRCm39) |
I336T |
probably benign |
Het |
Adam19 |
T |
A |
11: 46,003,702 (GRCm39) |
F177I |
probably benign |
Het |
Ankrd53 |
T |
C |
6: 83,745,155 (GRCm39) |
V455A |
probably damaging |
Het |
Arrdc1 |
A |
G |
2: 24,815,677 (GRCm39) |
S415P |
probably benign |
Het |
Atp10a |
T |
C |
7: 58,447,100 (GRCm39) |
L614P |
probably benign |
Het |
Catsper1 |
G |
T |
19: 5,393,991 (GRCm39) |
V668F |
probably damaging |
Het |
Cluh |
T |
A |
11: 74,552,744 (GRCm39) |
D596E |
probably damaging |
Het |
Cnot10 |
A |
G |
9: 114,444,175 (GRCm39) |
S407P |
probably benign |
Het |
Commd6 |
T |
C |
14: 101,871,786 (GRCm39) |
T86A |
probably damaging |
Het |
D5Ertd579e |
A |
T |
5: 36,762,001 (GRCm39) |
|
probably null |
Het |
Eif3l |
A |
G |
15: 78,969,760 (GRCm39) |
D252G |
probably damaging |
Het |
Epha2 |
A |
T |
4: 141,055,779 (GRCm39) |
S962C |
probably damaging |
Het |
Fcho1 |
C |
A |
8: 72,167,069 (GRCm39) |
|
probably null |
Het |
Fgf23 |
G |
T |
6: 127,050,179 (GRCm39) |
G63C |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,445,748 (GRCm39) |
Y834F |
probably damaging |
Het |
Gcn1 |
T |
C |
5: 115,726,169 (GRCm39) |
L608P |
probably damaging |
Het |
Hdac5 |
T |
A |
11: 102,093,102 (GRCm39) |
E545V |
probably damaging |
Het |
Hecw2 |
A |
T |
1: 53,976,291 (GRCm39) |
M166K |
probably benign |
Het |
Ikbkb |
T |
C |
8: 23,155,909 (GRCm39) |
D586G |
probably damaging |
Het |
Il36g |
G |
C |
2: 24,078,633 (GRCm39) |
|
probably null |
Het |
Ipo13 |
A |
T |
4: 117,762,108 (GRCm39) |
I422N |
possibly damaging |
Het |
Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
Kat6a |
G |
A |
8: 23,422,377 (GRCm39) |
A896T |
probably benign |
Het |
Kif28 |
A |
G |
1: 179,563,559 (GRCm39) |
I139T |
probably damaging |
Het |
Klhl25 |
A |
G |
7: 75,516,090 (GRCm39) |
E332G |
probably damaging |
Het |
Krt8 |
C |
T |
15: 101,906,343 (GRCm39) |
A389T |
probably benign |
Het |
Msrb3 |
T |
C |
10: 120,620,011 (GRCm39) |
S175G |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myo10 |
T |
C |
15: 25,805,745 (GRCm39) |
Y1709H |
probably benign |
Het |
Nckap5 |
A |
G |
1: 125,950,931 (GRCm39) |
S1519P |
probably benign |
Het |
Npnt |
T |
A |
3: 132,615,671 (GRCm39) |
D124V |
probably damaging |
Het |
Nr1d1 |
A |
T |
11: 98,661,662 (GRCm39) |
|
probably null |
Het |
Ogdh |
A |
G |
11: 6,290,477 (GRCm39) |
Y365C |
probably benign |
Het |
Or4f56 |
A |
T |
2: 111,703,306 (GRCm39) |
I298N |
possibly damaging |
Het |
Phf21b |
A |
T |
15: 84,671,647 (GRCm39) |
C416S |
probably damaging |
Het |
Prpsap1 |
A |
G |
11: 116,362,264 (GRCm39) |
S373P |
probably damaging |
Het |
Qrfprl |
A |
T |
6: 65,433,320 (GRCm39) |
N380I |
probably benign |
Het |
Rab28 |
T |
C |
5: 41,860,877 (GRCm39) |
T26A |
probably damaging |
Het |
Rbbp8nl |
A |
G |
2: 179,921,019 (GRCm39) |
I455T |
probably benign |
Het |
Rnft2 |
G |
A |
5: 118,366,883 (GRCm39) |
A285V |
possibly damaging |
Het |
Rrp36 |
G |
T |
17: 46,983,297 (GRCm39) |
Q106K |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,315,710 (GRCm39) |
L1666P |
probably damaging |
Het |
Siglecf |
A |
C |
7: 43,004,624 (GRCm39) |
T318P |
probably benign |
Het |
Slc22a1 |
C |
T |
17: 12,886,192 (GRCm39) |
W147* |
probably null |
Het |
Smchd1 |
T |
C |
17: 71,660,501 (GRCm39) |
I1868V |
probably damaging |
Het |
Snx21 |
A |
G |
2: 164,633,822 (GRCm39) |
S203G |
probably damaging |
Het |
Srl |
T |
C |
16: 4,300,695 (GRCm39) |
K792R |
probably benign |
Het |
Srrt |
A |
G |
5: 137,296,935 (GRCm39) |
F100S |
probably benign |
Het |
Stard9 |
G |
T |
2: 120,527,917 (GRCm39) |
M1391I |
probably benign |
Het |
Syne2 |
A |
G |
12: 76,082,404 (GRCm39) |
E119G |
probably damaging |
Het |
Syt11 |
G |
T |
3: 88,669,462 (GRCm39) |
S143R |
possibly damaging |
Het |
Tiparp |
T |
A |
3: 65,439,063 (GRCm39) |
H126Q |
probably benign |
Het |
Tulp2 |
C |
A |
7: 45,168,038 (GRCm39) |
T150K |
probably benign |
Het |
Usp31 |
C |
T |
7: 121,248,863 (GRCm39) |
W860* |
probably null |
Het |
Zfp317 |
A |
G |
9: 19,554,961 (GRCm39) |
R30G |
probably damaging |
Het |
Zfp709 |
C |
A |
8: 72,642,851 (GRCm39) |
N93K |
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 |
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'- GTTACCATTGCCTTCAGGATAATTC -3'
(R):5'- TAGATTCTTCTAGCTCTGAGACAGAG -3'
Sequencing Primer
(F):5'- GTTTGGCTTTCAGTAAGAAGACAC -3'
(R):5'- CTGAGACAGAGAAATATTTCAGTGAG -3'
|
Posted On |
2018-10-18 |