Incidental Mutation 'IGL01901:Ube3c'
ID |
179515 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ube3c
|
Ensembl Gene |
ENSMUSG00000039000 |
Gene Name |
ubiquitin protein ligase E3C |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01901
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
29774240-29881075 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29873005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1015
(V1015E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049453]
|
AlphaFold |
Q80U95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049453
AA Change: V1015E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045998 Gene: ENSMUSG00000039000 AA Change: V1015E
Domain | Start | End | E-Value | Type |
IQ
|
44 |
66 |
1.68e-3 |
SMART |
low complexity region
|
363 |
376 |
N/A |
INTRINSIC |
low complexity region
|
496 |
514 |
N/A |
INTRINSIC |
Blast:HECTc
|
645 |
701 |
5e-25 |
BLAST |
HECTc
|
742 |
1083 |
8.54e-178 |
SMART |
|
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 |
Adam2 |
A |
G |
14: 66,272,678 (GRCm39) |
|
probably benign |
Het |
Aldh1a7 |
T |
G |
19: 20,695,103 (GRCm39) |
Y154S |
probably damaging |
Het |
Casc3 |
A |
G |
11: 98,713,947 (GRCm39) |
D393G |
probably damaging |
Het |
Cd180 |
A |
G |
13: 102,842,936 (GRCm39) |
I661V |
probably benign |
Het |
Cdh1 |
T |
C |
8: 107,384,392 (GRCm39) |
S287P |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,952,321 (GRCm39) |
N6S |
probably damaging |
Het |
Cstdc6 |
C |
A |
16: 36,154,625 (GRCm39) |
A11S |
probably damaging |
Het |
Cyp17a1 |
C |
T |
19: 46,659,531 (GRCm39) |
V100M |
possibly damaging |
Het |
Ddhd2 |
A |
G |
8: 26,238,621 (GRCm39) |
V53A |
probably damaging |
Het |
Elovl7 |
T |
A |
13: 108,410,927 (GRCm39) |
|
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm14180 |
A |
G |
11: 99,625,053 (GRCm39) |
S22P |
unknown |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Golga5 |
G |
A |
12: 102,446,061 (GRCm39) |
|
probably null |
Het |
Gpr162 |
A |
T |
6: 124,838,370 (GRCm39) |
F93L |
possibly damaging |
Het |
Kcnh8 |
G |
A |
17: 53,201,148 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,492,169 (GRCm39) |
F358L |
probably damaging |
Het |
Mdn1 |
T |
G |
4: 32,669,591 (GRCm39) |
D409E |
probably damaging |
Het |
Ms4a10 |
T |
C |
19: 10,940,374 (GRCm39) |
D211G |
probably benign |
Het |
Ms4a3 |
T |
C |
19: 11,616,630 (GRCm39) |
E4G |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,418,260 (GRCm39) |
|
probably benign |
Het |
Or2ag16 |
A |
G |
7: 106,351,752 (GRCm39) |
V281A |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,826 (GRCm39) |
I219V |
probably damaging |
Het |
Or51aa2 |
A |
T |
7: 103,188,177 (GRCm39) |
L88Q |
probably damaging |
Het |
Or51q1c |
A |
G |
7: 103,653,274 (GRCm39) |
H264R |
probably damaging |
Het |
Or5b12 |
T |
C |
19: 12,896,947 (GRCm39) |
H242R |
probably damaging |
Het |
Or6c217 |
A |
G |
10: 129,737,722 (GRCm39) |
F286L |
probably benign |
Het |
Penk |
T |
C |
4: 4,134,465 (GRCm39) |
I61V |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,290,307 (GRCm39) |
K2860N |
probably benign |
Het |
Prtg |
C |
T |
9: 72,762,348 (GRCm39) |
P492S |
probably damaging |
Het |
Spata31e2 |
A |
G |
1: 26,721,665 (GRCm39) |
F1172L |
probably benign |
Het |
Tdrd7 |
T |
C |
4: 45,989,225 (GRCm39) |
|
probably benign |
Het |
Terf2ip |
A |
G |
8: 112,738,700 (GRCm39) |
N196S |
probably benign |
Het |
Tgtp1 |
T |
C |
11: 48,878,382 (GRCm39) |
N108D |
possibly damaging |
Het |
Thumpd3 |
A |
G |
6: 113,036,932 (GRCm39) |
H277R |
probably benign |
Het |
Tshz2 |
T |
A |
2: 169,727,456 (GRCm39) |
L215Q |
possibly damaging |
Het |
Utrn |
T |
A |
10: 12,516,672 (GRCm39) |
K2307N |
probably damaging |
Het |
Vmn1r75 |
A |
G |
7: 11,614,739 (GRCm39) |
Y157C |
probably damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Ube3c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00557:Ube3c
|
APN |
5 |
29,824,227 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01526:Ube3c
|
APN |
5 |
29,872,960 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02029:Ube3c
|
APN |
5 |
29,824,326 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02893:Ube3c
|
APN |
5 |
29,837,761 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03400:Ube3c
|
APN |
5 |
29,806,345 (GRCm39) |
missense |
probably benign |
0.00 |
conclusory
|
UTSW |
5 |
29,840,709 (GRCm39) |
missense |
probably damaging |
1.00 |
Lord_business
|
UTSW |
5 |
29,842,584 (GRCm39) |
splice site |
probably benign |
|
opine
|
UTSW |
5 |
29,803,846 (GRCm39) |
splice site |
probably benign |
|
two_cents
|
UTSW |
5 |
29,842,769 (GRCm39) |
critical splice donor site |
probably null |
|
BB002:Ube3c
|
UTSW |
5 |
29,851,429 (GRCm39) |
missense |
probably damaging |
0.96 |
BB012:Ube3c
|
UTSW |
5 |
29,851,429 (GRCm39) |
missense |
probably damaging |
0.96 |
R0067:Ube3c
|
UTSW |
5 |
29,803,936 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0067:Ube3c
|
UTSW |
5 |
29,803,936 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0099:Ube3c
|
UTSW |
5 |
29,812,062 (GRCm39) |
missense |
probably damaging |
1.00 |
R0606:Ube3c
|
UTSW |
5 |
29,795,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R0755:Ube3c
|
UTSW |
5 |
29,842,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R0900:Ube3c
|
UTSW |
5 |
29,806,344 (GRCm39) |
missense |
probably benign |
0.00 |
R1624:Ube3c
|
UTSW |
5 |
29,851,617 (GRCm39) |
missense |
probably benign |
0.00 |
R1701:Ube3c
|
UTSW |
5 |
29,806,200 (GRCm39) |
missense |
probably benign |
|
R1918:Ube3c
|
UTSW |
5 |
29,792,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R1933:Ube3c
|
UTSW |
5 |
29,824,657 (GRCm39) |
missense |
probably damaging |
0.97 |
R2072:Ube3c
|
UTSW |
5 |
29,840,638 (GRCm39) |
missense |
probably benign |
0.02 |
R2095:Ube3c
|
UTSW |
5 |
29,873,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R2122:Ube3c
|
UTSW |
5 |
29,824,604 (GRCm39) |
missense |
probably benign |
0.14 |
R2962:Ube3c
|
UTSW |
5 |
29,863,416 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3605:Ube3c
|
UTSW |
5 |
29,803,936 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3606:Ube3c
|
UTSW |
5 |
29,803,936 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3764:Ube3c
|
UTSW |
5 |
29,842,584 (GRCm39) |
splice site |
probably benign |
|
R3940:Ube3c
|
UTSW |
5 |
29,824,358 (GRCm39) |
missense |
probably benign |
0.31 |
R4776:Ube3c
|
UTSW |
5 |
29,837,836 (GRCm39) |
critical splice donor site |
probably null |
|
R4794:Ube3c
|
UTSW |
5 |
29,802,083 (GRCm39) |
missense |
probably benign |
0.06 |
R4924:Ube3c
|
UTSW |
5 |
29,836,269 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5059:Ube3c
|
UTSW |
5 |
29,836,293 (GRCm39) |
missense |
probably null |
0.11 |
R5068:Ube3c
|
UTSW |
5 |
29,806,352 (GRCm39) |
critical splice donor site |
probably null |
|
R5140:Ube3c
|
UTSW |
5 |
29,840,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R5849:Ube3c
|
UTSW |
5 |
29,863,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R5890:Ube3c
|
UTSW |
5 |
29,863,290 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5956:Ube3c
|
UTSW |
5 |
29,804,054 (GRCm39) |
intron |
probably benign |
|
R6035:Ube3c
|
UTSW |
5 |
29,806,161 (GRCm39) |
missense |
probably benign |
0.00 |
R6035:Ube3c
|
UTSW |
5 |
29,806,161 (GRCm39) |
missense |
probably benign |
0.00 |
R6264:Ube3c
|
UTSW |
5 |
29,795,829 (GRCm39) |
missense |
probably damaging |
1.00 |
R6354:Ube3c
|
UTSW |
5 |
29,868,581 (GRCm39) |
missense |
probably damaging |
0.99 |
R6658:Ube3c
|
UTSW |
5 |
29,807,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R6877:Ube3c
|
UTSW |
5 |
29,792,316 (GRCm39) |
missense |
probably benign |
0.22 |
R7660:Ube3c
|
UTSW |
5 |
29,824,629 (GRCm39) |
missense |
probably damaging |
0.98 |
R7925:Ube3c
|
UTSW |
5 |
29,851,429 (GRCm39) |
missense |
probably damaging |
0.96 |
R8153:Ube3c
|
UTSW |
5 |
29,811,929 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8334:Ube3c
|
UTSW |
5 |
29,795,882 (GRCm39) |
missense |
probably benign |
0.00 |
R8774:Ube3c
|
UTSW |
5 |
29,812,029 (GRCm39) |
missense |
probably benign |
0.09 |
R8774-TAIL:Ube3c
|
UTSW |
5 |
29,812,029 (GRCm39) |
missense |
probably benign |
0.09 |
R8941:Ube3c
|
UTSW |
5 |
29,842,769 (GRCm39) |
critical splice donor site |
probably null |
|
R9293:Ube3c
|
UTSW |
5 |
29,803,846 (GRCm39) |
splice site |
probably benign |
|
|
Posted On |
2014-05-07 |