Incidental Mutation 'IGL02690:Ugt2b35'
| ID |
303689 |
| 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 # |
IGL02690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87148719-87161133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87149096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 116
(F116L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031186
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031186]
|
| AlphaFold |
Q8BJL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031186
AA Change: F116L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000031186
Gene: ENSMUSG00000035811
AA Change: F116L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200248
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
T |
C |
17: 57,787,921 (GRCm39) |
V896A |
probably damaging |
Het |
| Ahnak |
C |
A |
19: 8,989,948 (GRCm39) |
S3744* |
probably null |
Het |
| Aldh7a1 |
A |
G |
18: 56,661,427 (GRCm39) |
|
probably benign |
Het |
| Ankk1 |
T |
A |
9: 49,333,200 (GRCm39) |
I95F |
probably damaging |
Het |
| Borcs8 |
C |
A |
8: 70,617,738 (GRCm39) |
A32D |
probably damaging |
Het |
| Ccn3 |
A |
G |
15: 54,611,198 (GRCm39) |
Y111C |
probably damaging |
Het |
| Cdh1 |
T |
A |
8: 107,384,516 (GRCm39) |
I328N |
probably damaging |
Het |
| Cebpz |
C |
T |
17: 79,229,986 (GRCm39) |
D856N |
probably damaging |
Het |
| Clip2 |
T |
A |
5: 134,539,013 (GRCm39) |
|
probably benign |
Het |
| Dock7 |
C |
A |
4: 98,857,872 (GRCm39) |
V1451F |
possibly damaging |
Het |
| Edem3 |
T |
G |
1: 151,680,550 (GRCm39) |
C558W |
probably damaging |
Het |
| Eif3f |
T |
C |
7: 108,533,925 (GRCm39) |
V96A |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,291,576 (GRCm39) |
S738P |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,678,861 (GRCm39) |
S912R |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,484,998 (GRCm39) |
|
probably benign |
Het |
| Larp7-ps |
T |
A |
4: 92,079,248 (GRCm39) |
D191V |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 90,981,383 (GRCm39) |
T2A |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,815,710 (GRCm39) |
E1198G |
possibly damaging |
Het |
| Maml1 |
A |
G |
11: 50,149,457 (GRCm39) |
L761P |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,845,532 (GRCm39) |
E1392V |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,821,374 (GRCm39) |
E78G |
probably damaging |
Het |
| Or13c7b |
G |
A |
4: 43,821,190 (GRCm39) |
T57M |
possibly damaging |
Het |
| Or5k17 |
G |
A |
16: 58,746,214 (GRCm39) |
T240I |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,459,839 (GRCm39) |
I50L |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,167,273 (GRCm39) |
N267D |
probably damaging |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rsc1a1 |
A |
T |
4: 141,412,612 (GRCm39) |
V100D |
probably damaging |
Het |
| Rtp1 |
T |
C |
16: 23,250,132 (GRCm39) |
Y166H |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,233,047 (GRCm39) |
T109S |
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,868,135 (GRCm39) |
S327C |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,665,040 (GRCm39) |
Y463C |
probably damaging |
Het |
| Speer1j |
C |
T |
5: 11,555,228 (GRCm39) |
Q66* |
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,888,195 (GRCm39) |
M936V |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Tbx20 |
T |
A |
9: 24,685,033 (GRCm39) |
N37Y |
probably benign |
Het |
| Tent4a |
T |
A |
13: 69,658,744 (GRCm39) |
M364L |
probably benign |
Het |
| Tex14 |
C |
T |
11: 87,377,100 (GRCm39) |
T148I |
probably benign |
Het |
| Ubxn7 |
A |
G |
16: 32,200,423 (GRCm39) |
E371G |
probably benign |
Het |
| Vmn2r111 |
C |
T |
17: 22,778,023 (GRCm39) |
|
probably null |
Het |
| Vmn2r26 |
T |
C |
6: 124,003,091 (GRCm39) |
L167P |
probably benign |
Het |
| Vps13b |
T |
C |
15: 35,917,288 (GRCm39) |
W3711R |
probably damaging |
Het |
| Wdr5 |
A |
T |
2: 27,424,840 (GRCm39) |
T326S |
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 |
|
IGL01109:Ugt2b35
|
APN |
5 |
87,156,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation