Incidental Mutation 'R0837:Ugt2b38'
| ID |
77985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ugt2b38
|
| Ensembl Gene |
ENSMUSG00000061906 |
| Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B38 |
| Synonyms |
|
| MMRRC Submission |
039016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R0837 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87409942-87424203 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 87411773 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 420
(T420I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072818]
|
| AlphaFold |
Q91WH2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072818
AA Change: T420I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072598
Gene: ENSMUSG00000061906
AA Change: T420I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Pfam:UDPGT
|
24 |
527 |
4.1e-255 |
PFAM |
|
Pfam:Glyco_tran_28_C
|
330 |
444 |
1.2e-7 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563I02Rik |
T |
C |
14: 60,095,926 (GRCm38) |
|
probably benign |
Het |
| 4930579C12Rik |
A |
G |
9: 89,168,207 (GRCm38) |
|
noncoding transcript |
Het |
| Adam34 |
T |
A |
8: 43,651,500 (GRCm38) |
K369N |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 109,851,065 (GRCm38) |
W481R |
probably damaging |
Het |
| Bicdl1 |
G |
A |
5: 115,731,292 (GRCm38) |
P26S |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,630,270 (GRCm38) |
C1224* |
probably null |
Het |
| Cpsf2 |
C |
T |
12: 101,997,242 (GRCm38) |
|
probably benign |
Het |
| Cyp11b2 |
G |
A |
15: 74,853,641 (GRCm38) |
R210W |
probably damaging |
Het |
| Dock7 |
C |
T |
4: 98,989,258 (GRCm38) |
V1048I |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,077,979 (GRCm38) |
A2908S |
probably benign |
Het |
| Elane |
A |
G |
10: 79,887,108 (GRCm38) |
D116G |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,507,816 (GRCm38) |
R153C |
probably damaging |
Het |
| Gucy2c |
G |
A |
6: 136,722,420 (GRCm38) |
P617L |
probably damaging |
Het |
| Hist2h2ab |
G |
A |
3: 96,220,123 (GRCm38) |
A70T |
probably damaging |
Het |
| Kcnq4 |
T |
A |
4: 120,746,861 (GRCm38) |
I106L |
probably benign |
Het |
| Man2b1 |
A |
G |
8: 85,096,829 (GRCm38) |
N931D |
possibly damaging |
Het |
| Mthfs |
A |
G |
9: 89,215,390 (GRCm38) |
E100G |
probably damaging |
Het |
| Mto1 |
A |
T |
9: 78,473,790 (GRCm38) |
I639F |
probably damaging |
Het |
| Myo15 |
A |
G |
11: 60,487,251 (GRCm38) |
E177G |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,230,743 (GRCm38) |
M282L |
probably benign |
Het |
| Olfr433 |
A |
G |
1: 174,042,487 (GRCm38) |
D179G |
probably damaging |
Het |
| Pik3c2g |
G |
A |
6: 139,957,699 (GRCm38) |
|
probably benign |
Het |
| Prl7d1 |
T |
A |
13: 27,714,338 (GRCm38) |
M64L |
probably benign |
Het |
| Prnp |
A |
T |
2: 131,936,524 (GRCm38) |
N32I |
probably damaging |
Het |
| Ptpn11 |
C |
T |
5: 121,149,111 (GRCm38) |
V406I |
probably benign |
Het |
| Rab40c |
G |
A |
17: 25,884,693 (GRCm38) |
T151I |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,234,271 (GRCm38) |
|
probably null |
Het |
| Rnf145 |
T |
C |
11: 44,524,988 (GRCm38) |
V10A |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,880,692 (GRCm38) |
N70S |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,859,042 (GRCm38) |
C483* |
probably null |
Het |
| Sema4a |
T |
A |
3: 88,453,098 (GRCm38) |
Q58L |
possibly damaging |
Het |
| Slf1 |
T |
C |
13: 77,100,948 (GRCm38) |
|
probably null |
Het |
| Sycp1 |
G |
T |
3: 102,915,245 (GRCm38) |
N364K |
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,896,275 (GRCm38) |
|
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,450,707 (GRCm38) |
T537A |
probably damaging |
Het |
| Trappc12 |
A |
G |
12: 28,703,597 (GRCm38) |
I573T |
possibly damaging |
Het |
| Ulk1 |
A |
T |
5: 110,789,545 (GRCm38) |
|
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,648,944 (GRCm38) |
C2367Y |
possibly damaging |
Het |
| Usp7 |
C |
A |
16: 8,703,502 (GRCm38) |
G135C |
probably damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,793,927 (GRCm38) |
Y327C |
probably damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,488,027 (GRCm38) |
H407L |
probably damaging |
Het |
| Zfp804a |
A |
C |
2: 82,259,162 (GRCm38) |
T1112P |
probably damaging |
Het |
| Zfr2 |
A |
G |
10: 81,245,408 (GRCm38) |
K431E |
probably damaging |
Het |
| Zfy1 |
A |
T |
Y: 725,850 (GRCm38) |
Y638* |
probably null |
Het |
|
| Other mutations in Ugt2b38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00959:Ugt2b38
|
APN |
5 |
87,411,823 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02326:Ugt2b38
|
APN |
5 |
87,423,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02537:Ugt2b38
|
APN |
5 |
87,421,731 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
IGL02543:Ugt2b38
|
APN |
5 |
87,423,483 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02852:Ugt2b38
|
APN |
5 |
87,411,741 (GRCm38) |
missense |
probably benign |
|
|
IGL03008:Ugt2b38
|
APN |
5 |
87,412,423 (GRCm38) |
missense |
probably benign |
0.00 |
|
over_easy
|
UTSW |
5 |
87,423,742 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0089:Ugt2b38
|
UTSW |
5 |
87,420,558 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0647:Ugt2b38
|
UTSW |
5 |
87,423,469 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0731:Ugt2b38
|
UTSW |
5 |
87,420,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0966:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0969:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0970:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0971:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1068:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1070:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1071:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1073:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1133:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1134:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1367:Ugt2b38
|
UTSW |
5 |
87,424,114 (GRCm38) |
missense |
probably benign |
0.11 |
|
R1383:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Ugt2b38
|
UTSW |
5 |
87,412,373 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1565:Ugt2b38
|
UTSW |
5 |
87,411,914 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1691:Ugt2b38
|
UTSW |
5 |
87,424,132 (GRCm38) |
missense |
probably benign |
|
|
R1725:Ugt2b38
|
UTSW |
5 |
87,411,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1736:Ugt2b38
|
UTSW |
5 |
87,423,633 (GRCm38) |
missense |
probably benign |
|
|
R2230:Ugt2b38
|
UTSW |
5 |
87,421,668 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2419:Ugt2b38
|
UTSW |
5 |
87,423,732 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2496:Ugt2b38
|
UTSW |
5 |
87,421,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3196:Ugt2b38
|
UTSW |
5 |
87,410,219 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3773:Ugt2b38
|
UTSW |
5 |
87,424,095 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5125:Ugt2b38
|
UTSW |
5 |
87,411,812 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5224:Ugt2b38
|
UTSW |
5 |
87,423,742 (GRCm38) |
missense |
probably benign |
0.25 |
|
R5516:Ugt2b38
|
UTSW |
5 |
87,411,843 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5765:Ugt2b38
|
UTSW |
5 |
87,424,095 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6352:Ugt2b38
|
UTSW |
5 |
87,424,001 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R7166:Ugt2b38
|
UTSW |
5 |
87,410,446 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7210:Ugt2b38
|
UTSW |
5 |
87,410,425 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7291:Ugt2b38
|
UTSW |
5 |
87,411,895 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7483:Ugt2b38
|
UTSW |
5 |
87,424,114 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7969:Ugt2b38
|
UTSW |
5 |
87,424,032 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8118:Ugt2b38
|
UTSW |
5 |
87,423,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8239:Ugt2b38
|
UTSW |
5 |
87,423,800 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8676:Ugt2b38
|
UTSW |
5 |
87,411,822 (GRCm38) |
missense |
probably benign |
0.12 |
|
R9178:Ugt2b38
|
UTSW |
5 |
87,420,537 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9193:Ugt2b38
|
UTSW |
5 |
87,423,870 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9566:Ugt2b38
|
UTSW |
5 |
87,410,350 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTTCTTTTGAAGTGTTGGACAGGAC -3'
(R):5'- AAGCCTTTGTAACTCATGGTGGGG -3'
Sequencing Primer
(F):5'- CAGGACTATCAAGATCATTCTTGGC -3'
(R):5'- TAACTCATGGTGGGGCCAATG -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation