Incidental Mutation 'R6857:Ugt2b37'
| ID |
535311 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b37
|
| Ensembl Gene |
ENSMUSG00000057425 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B37 |
| Synonyms |
0610033E06Rik |
| MMRRC Submission |
044959-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.061)
|
| Stock # |
R6857 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87388351-87402647 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 87388705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 503
(A503P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075858]
|
| AlphaFold |
Q8VCN3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075858
AA Change: A503P
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000075255
Gene: ENSMUSG00000057425
AA Change: A503P
| 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 |
0.2615 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (58/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,110,514 (GRCm39) |
L545P |
possibly damaging |
Het |
| Adam4 |
T |
C |
12: 81,466,723 (GRCm39) |
T633A |
possibly damaging |
Het |
| Ahnak |
C |
T |
19: 9,014,532 (GRCm39) |
Q119* |
probably null |
Het |
| Anxa10 |
C |
A |
8: 62,514,051 (GRCm39) |
A239S |
probably benign |
Het |
| B020011L13Rik |
A |
T |
1: 117,729,018 (GRCm39) |
H175L |
probably benign |
Het |
| Best2 |
A |
G |
8: 85,734,452 (GRCm39) |
V422A |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,759,309 (GRCm39) |
F298S |
possibly damaging |
Het |
| Cd38 |
T |
A |
5: 44,063,540 (GRCm39) |
M211K |
probably damaging |
Het |
| Cd3d |
T |
G |
9: 44,896,902 (GRCm39) |
M92R |
probably damaging |
Het |
| Cdk5rap2 |
C |
A |
4: 70,163,633 (GRCm39) |
E1474* |
probably null |
Het |
| Clvs1 |
A |
G |
4: 9,449,433 (GRCm39) |
K341E |
probably benign |
Het |
| Copg2 |
G |
T |
6: 30,840,533 (GRCm39) |
D112E |
possibly damaging |
Het |
| Cspg4b |
A |
T |
13: 113,456,492 (GRCm39) |
N846I |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 49,997,902 (GRCm39) |
N697Y |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,624,981 (GRCm39) |
S3803P |
possibly damaging |
Het |
| Ecpas |
T |
A |
4: 58,814,065 (GRCm39) |
D1347V |
probably damaging |
Het |
| Epx |
T |
A |
11: 87,760,781 (GRCm39) |
K384* |
probably null |
Het |
| Fam135a |
G |
C |
1: 24,053,870 (GRCm39) |
D1222E |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,991,002 (GRCm39) |
H898L |
unknown |
Het |
| Gapvd1 |
A |
G |
2: 34,618,389 (GRCm39) |
I190T |
probably damaging |
Het |
| Hax1 |
T |
G |
3: 89,904,759 (GRCm39) |
S122R |
probably damaging |
Het |
| Hdac9 |
T |
G |
12: 34,443,362 (GRCm39) |
M272L |
probably benign |
Het |
| Itgb7 |
T |
C |
15: 102,131,900 (GRCm39) |
S228G |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,298,517 (GRCm39) |
E315* |
probably null |
Het |
| Kctd8 |
T |
C |
5: 69,454,045 (GRCm39) |
N331D |
probably benign |
Het |
| Ky |
G |
A |
9: 102,419,631 (GRCm39) |
G546E |
probably damaging |
Het |
| Lao1 |
T |
C |
4: 118,821,023 (GRCm39) |
|
probably null |
Het |
| Mtmr12 |
T |
A |
15: 12,263,918 (GRCm39) |
W427R |
probably damaging |
Het |
| Mxra8 |
A |
G |
4: 155,927,593 (GRCm39) |
K434E |
possibly damaging |
Het |
| Myh4 |
T |
C |
11: 67,140,711 (GRCm39) |
C676R |
possibly damaging |
Het |
| Nek7 |
C |
T |
1: 138,443,420 (GRCm39) |
G178R |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,831 (GRCm39) |
C169S |
probably damaging |
Het |
| Or8b50 |
T |
C |
9: 38,518,307 (GRCm39) |
L182P |
probably benign |
Het |
| Or8k35 |
A |
T |
2: 86,424,608 (GRCm39) |
L188H |
probably damaging |
Het |
| Paqr5 |
G |
T |
9: 61,883,370 (GRCm39) |
H41N |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,606,920 (GRCm39) |
L405P |
probably damaging |
Het |
| Plpbp |
A |
G |
8: 27,535,454 (GRCm39) |
N79S |
possibly damaging |
Het |
| Plxnd1 |
G |
T |
6: 115,970,724 (GRCm39) |
A348E |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,764,518 (GRCm39) |
Q754R |
probably benign |
Het |
| Pygm |
G |
T |
19: 6,443,787 (GRCm39) |
G583C |
probably damaging |
Het |
| Rgs12 |
A |
T |
5: 35,187,366 (GRCm39) |
K213* |
probably null |
Het |
| Serpina3m |
T |
C |
12: 104,355,585 (GRCm39) |
L84P |
probably damaging |
Het |
| Tab2 |
T |
C |
10: 7,796,177 (GRCm39) |
T102A |
possibly damaging |
Het |
| Tagln3 |
G |
T |
16: 45,544,599 (GRCm39) |
A24E |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,801,114 (GRCm39) |
E1110G |
possibly damaging |
Het |
| Tcf3 |
T |
C |
10: 80,252,733 (GRCm39) |
|
probably null |
Het |
| Tmem14a |
T |
C |
1: 21,299,769 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,748,275 (GRCm39) |
E4258V |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,213,362 (GRCm39) |
D5104N |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r88 |
A |
T |
7: 12,912,258 (GRCm39) |
M205L |
possibly damaging |
Het |
| Vmn2r109 |
C |
T |
17: 20,760,932 (GRCm39) |
M808I |
probably benign |
Het |
| Wdr72 |
G |
T |
9: 74,062,323 (GRCm39) |
V490L |
probably damaging |
Het |
| Zfp1004 |
G |
T |
2: 150,033,982 (GRCm39) |
C132F |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,580,161 (GRCm39) |
H107Q |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,375,096 (GRCm39) |
V785E |
probably damaging |
Het |
| Zswim7 |
A |
T |
11: 62,171,955 (GRCm39) |
|
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 |
|
|
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 |
|
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'- ACACTGGGATCTCAGAAATTACAC -3'
(R):5'- TTGTCAACCATTCACCATGACC -3'
Sequencing Primer
(F):5'- GATGGGATTTTTGAAAATGCATCAG -3'
(R):5'- TTCACCATGACCAGCCTATG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation