Incidental Mutation 'R4626:Ugt2b36'
ID |
348769 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ugt2b36
|
Ensembl Gene |
ENSMUSG00000070704 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B36 |
Synonyms |
|
MMRRC Submission |
041891-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R4626 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
87213786-87240414 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 87239947 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Cysteine
at position 146
(F146C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092233
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094649]
[ENSMUST00000132667]
[ENSMUST00000145617]
|
AlphaFold |
Q3UEP4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094649
AA Change: F146C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092233 Gene: ENSMUSG00000070704 AA Change: F146C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
527 |
6.9e-260 |
PFAM |
Pfam:Glyco_tran_28_C
|
339 |
448 |
2e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132667
|
SMART Domains |
Protein: ENSMUSP00000123024 Gene: ENSMUSG00000070704
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
105 |
1.1e-23 |
PFAM |
Pfam:UDPGT
|
99 |
265 |
7.4e-95 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145617
|
SMART Domains |
Protein: ENSMUSP00000120005 Gene: ENSMUSG00000070704
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
22 |
249 |
2.1e-127 |
PFAM |
Pfam:Glyco_tran_28_C
|
164 |
245 |
1.7e-9 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154455
|
SMART Domains |
Protein: ENSMUSP00000120633 Gene: ENSMUSG00000070704
Domain | Start | End | E-Value | Type |
Pfam:UDPGT
|
1 |
198 |
1.2e-117 |
PFAM |
Pfam:Glyco_tran_28_C
|
109 |
194 |
1.7e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatf |
A |
C |
11: 84,313,784 (GRCm39) |
*527G |
probably null |
Het |
Abca17 |
A |
T |
17: 24,540,058 (GRCm39) |
I390N |
probably damaging |
Het |
Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd49 |
A |
C |
9: 14,693,936 (GRCm39) |
L77R |
probably damaging |
Het |
Ap3b1 |
T |
A |
13: 94,540,586 (GRCm39) |
N169K |
possibly damaging |
Het |
Arhgap39 |
A |
C |
15: 76,621,837 (GRCm39) |
F255V |
possibly damaging |
Het |
Atp1a3 |
T |
A |
7: 24,698,193 (GRCm39) |
N171I |
possibly damaging |
Het |
Atp9a |
T |
C |
2: 168,481,863 (GRCm39) |
D953G |
probably damaging |
Het |
Atxn1 |
T |
C |
13: 45,720,575 (GRCm39) |
Y440C |
probably damaging |
Het |
Bccip |
T |
C |
7: 133,322,457 (GRCm39) |
Y268H |
possibly damaging |
Het |
Brms1l |
C |
A |
12: 55,909,958 (GRCm39) |
P243T |
probably benign |
Het |
Btbd10 |
T |
C |
7: 112,927,605 (GRCm39) |
E250G |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,358,294 (GRCm39) |
|
probably null |
Het |
Cfhr2 |
A |
T |
1: 139,741,314 (GRCm39) |
N220K |
probably damaging |
Het |
Csnk1g2 |
C |
A |
10: 80,475,648 (GRCm39) |
A405E |
probably damaging |
Het |
D5Ertd579e |
T |
C |
5: 36,771,903 (GRCm39) |
I831V |
possibly damaging |
Het |
F2 |
T |
A |
2: 91,461,015 (GRCm39) |
N239I |
probably benign |
Het |
Fbln5 |
T |
A |
12: 101,727,086 (GRCm39) |
D301V |
probably damaging |
Het |
Fbn2 |
A |
T |
18: 58,146,819 (GRCm39) |
C2692* |
probably null |
Het |
Fhdc1 |
C |
T |
3: 84,381,557 (GRCm39) |
D34N |
probably damaging |
Het |
Galnt13 |
T |
A |
2: 54,747,878 (GRCm39) |
M253K |
probably damaging |
Het |
Gpc6 |
C |
A |
14: 118,202,255 (GRCm39) |
Y488* |
probably null |
Het |
Grm5 |
G |
T |
7: 87,779,361 (GRCm39) |
G934C |
probably damaging |
Het |
Gys1 |
T |
C |
7: 45,088,958 (GRCm39) |
L119S |
probably damaging |
Het |
H2-T15 |
CTGGGTG |
CTG |
17: 36,368,788 (GRCm39) |
|
probably null |
Het |
Htra4 |
T |
C |
8: 25,527,130 (GRCm39) |
N222D |
probably benign |
Het |
Iba57 |
A |
G |
11: 59,049,287 (GRCm39) |
V294A |
probably benign |
Het |
Kctd21 |
A |
G |
7: 96,996,782 (GRCm39) |
D85G |
probably damaging |
Het |
Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
Lama5 |
G |
A |
2: 179,826,253 (GRCm39) |
T2330M |
probably damaging |
Het |
Lrguk |
G |
A |
6: 34,106,158 (GRCm39) |
E728K |
probably benign |
Het |
Mcm6 |
T |
C |
1: 128,279,285 (GRCm39) |
D167G |
probably benign |
Het |
Mettl18 |
T |
A |
1: 163,824,045 (GRCm39) |
V122E |
probably damaging |
Het |
Mindy2 |
G |
A |
9: 70,534,063 (GRCm39) |
S378L |
probably damaging |
Het |
Mis18bp1 |
G |
T |
12: 65,187,540 (GRCm39) |
F854L |
probably damaging |
Het |
Mtdh |
C |
T |
15: 34,114,980 (GRCm39) |
R106* |
probably null |
Het |
Nup214 |
T |
A |
2: 31,923,416 (GRCm39) |
V1315E |
possibly damaging |
Het |
Nup58 |
A |
G |
14: 60,476,004 (GRCm39) |
V271A |
probably benign |
Het |
Or1j1 |
A |
G |
2: 36,702,271 (GRCm39) |
Y278H |
probably damaging |
Het |
Or4c101 |
T |
C |
2: 88,390,176 (GRCm39) |
V121A |
possibly damaging |
Het |
Or6f2 |
T |
C |
7: 139,756,359 (GRCm39) |
S109P |
probably damaging |
Het |
Orc5 |
G |
T |
5: 22,753,003 (GRCm39) |
F10L |
probably benign |
Het |
Pcdha11 |
A |
T |
18: 37,140,051 (GRCm39) |
N560I |
probably damaging |
Het |
Pcdhb9 |
T |
A |
18: 37,535,302 (GRCm39) |
F432Y |
probably benign |
Het |
Peg10 |
GGATCC |
GGATCCCCATCAAGATCC |
6: 4,756,460 (GRCm39) |
|
probably benign |
Het |
Poll |
C |
A |
19: 45,543,563 (GRCm39) |
M385I |
probably benign |
Het |
Pomt1 |
A |
G |
2: 32,144,424 (GRCm39) |
K737E |
possibly damaging |
Het |
Prr16 |
C |
T |
18: 51,435,911 (GRCm39) |
T130I |
probably damaging |
Het |
Ptpn18 |
A |
G |
1: 34,510,873 (GRCm39) |
|
probably null |
Het |
Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Scn10a |
A |
G |
9: 119,460,571 (GRCm39) |
I1101T |
possibly damaging |
Het |
Slc22a22 |
T |
C |
15: 57,126,734 (GRCm39) |
T93A |
probably damaging |
Het |
Snx10 |
A |
G |
6: 51,565,270 (GRCm39) |
D129G |
probably damaging |
Het |
Stub1 |
A |
G |
17: 26,050,845 (GRCm39) |
|
probably null |
Het |
Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
Trmu |
T |
C |
15: 85,779,186 (GRCm39) |
Y278H |
possibly damaging |
Het |
Vav2 |
T |
C |
2: 27,160,172 (GRCm39) |
I692V |
possibly damaging |
Het |
Wdfy3 |
A |
G |
5: 102,091,800 (GRCm39) |
L513P |
probably damaging |
Het |
Zfhx4 |
T |
A |
3: 5,467,699 (GRCm39) |
V2619D |
probably damaging |
Het |
Zfyve26 |
T |
A |
12: 79,315,844 (GRCm39) |
N1211Y |
possibly damaging |
Het |
Zp3r |
A |
G |
1: 130,542,912 (GRCm39) |
F142L |
probably damaging |
Het |
|
Other mutations in Ugt2b36 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00513:Ugt2b36
|
APN |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL01024:Ugt2b36
|
APN |
5 |
87,228,728 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01295:Ugt2b36
|
APN |
5 |
87,228,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01331:Ugt2b36
|
APN |
5 |
87,238,801 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02597:Ugt2b36
|
APN |
5 |
87,228,783 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02967:Ugt2b36
|
APN |
5 |
87,238,759 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL03053:Ugt2b36
|
APN |
5 |
87,239,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0370:Ugt2b36
|
UTSW |
5 |
87,239,834 (GRCm39) |
missense |
probably benign |
0.04 |
R0616:Ugt2b36
|
UTSW |
5 |
87,237,336 (GRCm39) |
missense |
probably benign |
0.01 |
R0827:Ugt2b36
|
UTSW |
5 |
87,214,234 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0885:Ugt2b36
|
UTSW |
5 |
87,239,848 (GRCm39) |
missense |
probably benign |
0.03 |
R1471:Ugt2b36
|
UTSW |
5 |
87,239,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R1567:Ugt2b36
|
UTSW |
5 |
87,240,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R1782:Ugt2b36
|
UTSW |
5 |
87,229,440 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1974:Ugt2b36
|
UTSW |
5 |
87,228,727 (GRCm39) |
critical splice donor site |
probably null |
|
R2065:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2066:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2068:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2111:Ugt2b36
|
UTSW |
5 |
87,240,100 (GRCm39) |
missense |
probably benign |
0.03 |
R2272:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
possibly damaging |
0.65 |
R2696:Ugt2b36
|
UTSW |
5 |
87,237,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R4700:Ugt2b36
|
UTSW |
5 |
87,240,301 (GRCm39) |
critical splice donor site |
probably null |
|
R4731:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
R4732:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
R4733:Ugt2b36
|
UTSW |
5 |
87,229,397 (GRCm39) |
nonsense |
probably null |
|
R4922:Ugt2b36
|
UTSW |
5 |
87,214,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R5217:Ugt2b36
|
UTSW |
5 |
87,214,114 (GRCm39) |
missense |
probably damaging |
0.97 |
R5244:Ugt2b36
|
UTSW |
5 |
87,239,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R5341:Ugt2b36
|
UTSW |
5 |
87,240,087 (GRCm39) |
nonsense |
probably null |
|
R5478:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
probably damaging |
1.00 |
R5572:Ugt2b36
|
UTSW |
5 |
87,237,341 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5722:Ugt2b36
|
UTSW |
5 |
87,240,297 (GRCm39) |
nonsense |
probably null |
|
R5961:Ugt2b36
|
UTSW |
5 |
87,228,724 (GRCm39) |
splice site |
probably null |
|
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:Ugt2b36
|
UTSW |
5 |
87,229,377 (GRCm39) |
missense |
probably damaging |
1.00 |
R6139:Ugt2b36
|
UTSW |
5 |
87,240,030 (GRCm39) |
missense |
probably benign |
|
R6145:Ugt2b36
|
UTSW |
5 |
87,214,072 (GRCm39) |
missense |
probably benign |
|
R6226:Ugt2b36
|
UTSW |
5 |
87,239,989 (GRCm39) |
missense |
probably damaging |
0.99 |
R6531:Ugt2b36
|
UTSW |
5 |
87,229,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R6704:Ugt2b36
|
UTSW |
5 |
87,239,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R6895:Ugt2b36
|
UTSW |
5 |
87,240,157 (GRCm39) |
missense |
probably benign |
0.06 |
R7218:Ugt2b36
|
UTSW |
5 |
87,229,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R7258:Ugt2b36
|
UTSW |
5 |
87,228,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R7310:Ugt2b36
|
UTSW |
5 |
87,214,138 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7650:Ugt2b36
|
UTSW |
5 |
87,228,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R7707:Ugt2b36
|
UTSW |
5 |
87,229,367 (GRCm39) |
critical splice donor site |
probably null |
|
R7866:Ugt2b36
|
UTSW |
5 |
87,240,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R7967:Ugt2b36
|
UTSW |
5 |
87,214,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R7985:Ugt2b36
|
UTSW |
5 |
87,239,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R8098:Ugt2b36
|
UTSW |
5 |
87,240,252 (GRCm39) |
missense |
probably benign |
0.02 |
R8123:Ugt2b36
|
UTSW |
5 |
87,240,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R9294:Ugt2b36
|
UTSW |
5 |
87,228,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R9577:Ugt2b36
|
UTSW |
5 |
87,228,784 (GRCm39) |
missense |
probably benign |
0.09 |
R9630:Ugt2b36
|
UTSW |
5 |
87,239,773 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCATTTGACCACTTAATCCTGAC -3'
(R):5'- AAATCGCCTGGCCTTAAGTTTG -3'
Sequencing Primer
(F):5'- CCACTTAATCCTGACAAAATTACAGG -3'
(R):5'- GTCATGGAAATTATTTTTGCAAAGGC -3'
|
Posted On |
2015-10-08 |