Incidental Mutation 'IGL01109:Ugt2b35'
ID |
51117 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ugt2b35
|
Ensembl Gene |
ENSMUSG00000035811 |
Gene Name |
UDP glucuronosyltransferase 2 family, polypeptide B35 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.082)
|
Stock # |
IGL01109
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
87148719-87161133 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 87156165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 419
(T419I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031186
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031186]
|
AlphaFold |
Q8BJL9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031186
AA Change: T419I
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000031186 Gene: ENSMUSG00000035811 AA Change: T419I
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
Pfam:UDPGT
|
24 |
526 |
1e-253 |
PFAM |
Pfam:Glyco_tran_28_C
|
338 |
449 |
1.9e-8 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk2 |
T |
C |
18: 65,440,211 (GRCm39) |
D861G |
probably benign |
Het |
Anapc4 |
A |
G |
5: 53,005,970 (GRCm39) |
T326A |
probably damaging |
Het |
Atm |
T |
C |
9: 53,401,593 (GRCm39) |
I1425M |
probably damaging |
Het |
Bend5 |
T |
C |
4: 111,305,838 (GRCm39) |
L294P |
probably damaging |
Het |
Casp7 |
T |
A |
19: 56,425,177 (GRCm39) |
D193E |
probably benign |
Het |
Cdc16 |
T |
C |
8: 13,814,606 (GRCm39) |
V130A |
probably benign |
Het |
Chl1 |
T |
G |
6: 103,692,354 (GRCm39) |
Y331D |
probably damaging |
Het |
Cntn1 |
C |
A |
15: 92,237,458 (GRCm39) |
Y1017* |
probably null |
Het |
Cyb5d1 |
C |
A |
11: 69,284,610 (GRCm39) |
|
probably null |
Het |
Cyp2c38 |
A |
G |
19: 39,451,329 (GRCm39) |
|
probably null |
Het |
Dzip3 |
T |
C |
16: 48,750,037 (GRCm39) |
M827V |
probably benign |
Het |
Ehd1 |
T |
A |
19: 6,348,177 (GRCm39) |
M385K |
possibly damaging |
Het |
Eya3 |
C |
A |
4: 132,420,311 (GRCm39) |
Y52* |
probably null |
Het |
Itsn1 |
C |
T |
16: 91,603,089 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
A |
T |
14: 47,952,178 (GRCm39) |
N983I |
probably damaging |
Het |
Lrrk2 |
T |
A |
15: 91,623,035 (GRCm39) |
N1068K |
probably damaging |
Het |
Mup6 |
T |
A |
4: 60,006,001 (GRCm39) |
N156K |
probably damaging |
Het |
Nedd9 |
T |
A |
13: 41,469,710 (GRCm39) |
H481L |
probably benign |
Het |
Obscn |
T |
C |
11: 59,024,588 (GRCm39) |
D484G |
probably damaging |
Het |
Ogdh |
T |
C |
11: 6,298,790 (GRCm39) |
V674A |
probably damaging |
Het |
Or4a27 |
T |
C |
2: 88,559,409 (GRCm39) |
D178G |
probably damaging |
Het |
Or4f54 |
G |
A |
2: 111,122,864 (GRCm39) |
D84N |
probably benign |
Het |
Or5b113 |
A |
G |
19: 13,342,063 (GRCm39) |
I24V |
probably benign |
Het |
Or5d38 |
T |
C |
2: 87,955,023 (GRCm39) |
Q102R |
probably damaging |
Het |
Or8g53 |
T |
C |
9: 39,683,293 (GRCm39) |
M268V |
probably benign |
Het |
Or8k32 |
T |
A |
2: 86,368,674 (GRCm39) |
D195V |
probably benign |
Het |
Osbpl6 |
A |
G |
2: 76,379,871 (GRCm39) |
T154A |
probably damaging |
Het |
P2rx1 |
T |
C |
11: 72,899,041 (GRCm39) |
V84A |
probably damaging |
Het |
Pcdh11x |
G |
A |
X: 119,310,611 (GRCm39) |
V685I |
possibly damaging |
Het |
Ppp4r3b |
T |
A |
11: 29,138,288 (GRCm39) |
V212E |
probably damaging |
Het |
Prune2 |
A |
G |
19: 17,101,243 (GRCm39) |
D2249G |
probably benign |
Het |
Slc5a8 |
T |
A |
10: 88,742,254 (GRCm39) |
S317T |
possibly damaging |
Het |
Ssc5d |
T |
A |
7: 4,940,111 (GRCm39) |
L822* |
probably null |
Het |
Swt1 |
A |
G |
1: 151,286,890 (GRCm39) |
S201P |
probably damaging |
Het |
Tet1 |
T |
A |
10: 62,715,553 (GRCm39) |
M81L |
probably benign |
Het |
Tex9 |
T |
A |
9: 72,395,349 (GRCm39) |
N39I |
probably damaging |
Het |
Ttc4 |
T |
C |
4: 106,520,360 (GRCm39) |
Y378C |
probably damaging |
Het |
Ubap2 |
T |
C |
4: 41,195,155 (GRCm39) |
N1131S |
probably damaging |
Het |
Ugt3a1 |
T |
G |
15: 9,367,354 (GRCm39) |
F366V |
probably damaging |
Het |
Zfp324 |
A |
G |
7: 12,703,362 (GRCm39) |
T95A |
probably benign |
Het |
|
Other mutations in Ugt2b35 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00703:Ugt2b35
|
APN |
5 |
87,156,051 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01586:Ugt2b35
|
APN |
5 |
87,159,250 (GRCm39) |
missense |
probably benign |
0.07 |
IGL02151:Ugt2b35
|
APN |
5 |
87,151,141 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL02225:Ugt2b35
|
APN |
5 |
87,155,264 (GRCm39) |
splice site |
probably benign |
|
IGL02483:Ugt2b35
|
APN |
5 |
87,149,004 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02504:Ugt2b35
|
APN |
5 |
87,149,400 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02690:Ugt2b35
|
APN |
5 |
87,149,096 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02954:Ugt2b35
|
APN |
5 |
87,159,180 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03242:Ugt2b35
|
APN |
5 |
87,155,254 (GRCm39) |
missense |
probably damaging |
1.00 |
R0329:Ugt2b35
|
UTSW |
5 |
87,151,264 (GRCm39) |
missense |
probably null |
0.38 |
R0513:Ugt2b35
|
UTSW |
5 |
87,151,271 (GRCm39) |
splice site |
probably benign |
|
R0571:Ugt2b35
|
UTSW |
5 |
87,148,793 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0827:Ugt2b35
|
UTSW |
5 |
87,155,989 (GRCm39) |
splice site |
probably benign |
|
R1396:Ugt2b35
|
UTSW |
5 |
87,159,389 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1437:Ugt2b35
|
UTSW |
5 |
87,148,890 (GRCm39) |
missense |
probably benign |
0.02 |
R1557:Ugt2b35
|
UTSW |
5 |
87,155,156 (GRCm39) |
splice site |
probably null |
|
R1869:Ugt2b35
|
UTSW |
5 |
87,149,147 (GRCm39) |
missense |
probably damaging |
1.00 |
R1937:Ugt2b35
|
UTSW |
5 |
87,149,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Ugt2b35
|
UTSW |
5 |
87,149,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Ugt2b35
|
UTSW |
5 |
87,151,191 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3055:Ugt2b35
|
UTSW |
5 |
87,149,457 (GRCm39) |
missense |
probably benign |
0.05 |
R3793:Ugt2b35
|
UTSW |
5 |
87,149,465 (GRCm39) |
missense |
probably benign |
0.15 |
R4452:Ugt2b35
|
UTSW |
5 |
87,151,237 (GRCm39) |
missense |
probably damaging |
0.99 |
R4548:Ugt2b35
|
UTSW |
5 |
87,156,134 (GRCm39) |
nonsense |
probably null |
|
R4902:Ugt2b35
|
UTSW |
5 |
87,151,159 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5311:Ugt2b35
|
UTSW |
5 |
87,159,139 (GRCm39) |
nonsense |
probably null |
|
R6187:Ugt2b35
|
UTSW |
5 |
87,155,181 (GRCm39) |
missense |
probably damaging |
0.98 |
R6332:Ugt2b35
|
UTSW |
5 |
87,149,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R6719:Ugt2b35
|
UTSW |
5 |
87,155,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R7211:Ugt2b35
|
UTSW |
5 |
87,149,177 (GRCm39) |
missense |
probably benign |
0.39 |
R7652:Ugt2b35
|
UTSW |
5 |
87,149,369 (GRCm39) |
missense |
probably damaging |
0.99 |
R7766:Ugt2b35
|
UTSW |
5 |
87,149,061 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7825:Ugt2b35
|
UTSW |
5 |
87,149,218 (GRCm39) |
nonsense |
probably null |
|
R8188:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8189:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8191:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8192:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8193:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8220:Ugt2b35
|
UTSW |
5 |
87,149,302 (GRCm39) |
missense |
probably damaging |
0.98 |
R8288:Ugt2b35
|
UTSW |
5 |
87,149,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R8695:Ugt2b35
|
UTSW |
5 |
87,156,064 (GRCm39) |
missense |
probably damaging |
0.97 |
R8898:Ugt2b35
|
UTSW |
5 |
87,159,189 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8924:Ugt2b35
|
UTSW |
5 |
87,152,780 (GRCm39) |
missense |
possibly damaging |
0.73 |
R8944:Ugt2b35
|
UTSW |
5 |
87,149,310 (GRCm39) |
missense |
probably benign |
0.21 |
R9284:Ugt2b35
|
UTSW |
5 |
87,156,140 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-06-21 |