Incidental Mutation 'R0099:Ube3c'
ID |
33141 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube3c
|
Ensembl Gene |
ENSMUSG00000039000 |
Gene Name |
ubiquitin protein ligase E3C |
Synonyms |
|
MMRRC Submission |
038385-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0099 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
5 |
Chromosomal Location |
29774240-29881075 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29812062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 434
(V434E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142474
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049453]
[ENSMUST00000199032]
|
AlphaFold |
Q80U95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049453
AA Change: V434E
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045998 Gene: ENSMUSG00000039000 AA Change: V434E
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000199032
AA Change: V434E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142474 Gene: ENSMUSG00000039000 AA Change: V434E
Domain | Start | End | E-Value | Type |
IQ
|
44 |
66 |
8e-6 |
SMART |
low complexity region
|
363 |
376 |
N/A |
INTRINSIC |
low complexity region
|
496 |
514 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6111 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
100% (65/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930018M24Rik |
C |
T |
14: 51,134,179 (GRCm39) |
|
probably benign |
Het |
Aadacl2fm1 |
A |
C |
3: 59,843,856 (GRCm39) |
K183N |
probably benign |
Het |
Acad10 |
A |
C |
5: 121,759,353 (GRCm39) |
D1043E |
probably damaging |
Het |
Adamtsl4 |
C |
T |
3: 95,591,449 (GRCm39) |
G173R |
probably benign |
Het |
Astn1 |
G |
T |
1: 158,329,721 (GRCm39) |
S192I |
probably damaging |
Het |
Atg2a |
T |
A |
19: 6,302,819 (GRCm39) |
V1010E |
probably damaging |
Het |
Col11a2 |
A |
G |
17: 34,268,648 (GRCm39) |
E311G |
probably damaging |
Het |
Col4a3 |
A |
C |
1: 82,695,714 (GRCm39) |
E1638A |
probably benign |
Het |
Cstf2t |
A |
G |
19: 31,061,231 (GRCm39) |
R256G |
probably benign |
Het |
Cyp4a12a |
T |
C |
4: 115,183,869 (GRCm39) |
L225P |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,240,080 (GRCm39) |
R479H |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,673,079 (GRCm39) |
I917V |
probably benign |
Het |
Fam76a |
G |
T |
4: 132,638,098 (GRCm39) |
|
probably benign |
Het |
Fras1 |
T |
A |
5: 96,762,776 (GRCm39) |
|
probably null |
Het |
Gli1 |
A |
G |
10: 127,171,875 (GRCm39) |
V293A |
probably damaging |
Het |
Gm10782 |
T |
A |
13: 56,510,956 (GRCm39) |
|
noncoding transcript |
Het |
Greb1l |
A |
G |
18: 10,509,158 (GRCm39) |
E490G |
probably damaging |
Het |
Hydin |
G |
A |
8: 111,316,193 (GRCm39) |
G4362R |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,749,778 (GRCm39) |
|
probably benign |
Het |
Ikzf4 |
T |
A |
10: 128,470,066 (GRCm39) |
I485F |
probably damaging |
Het |
Irf5 |
A |
G |
6: 29,533,966 (GRCm39) |
T34A |
probably damaging |
Het |
Krt81 |
A |
T |
15: 101,361,402 (GRCm39) |
C59* |
probably null |
Het |
Kynu |
T |
A |
2: 43,519,065 (GRCm39) |
|
probably null |
Het |
Ly6g6c |
T |
C |
17: 35,287,891 (GRCm39) |
V61A |
probably damaging |
Het |
Manea |
A |
C |
4: 26,328,104 (GRCm39) |
I312M |
probably damaging |
Het |
Micall1 |
G |
T |
15: 79,016,101 (GRCm39) |
|
probably benign |
Het |
Mthfs |
A |
T |
9: 89,108,216 (GRCm39) |
|
probably benign |
Het |
Myh4 |
A |
G |
11: 67,150,173 (GRCm39) |
T1877A |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,250,409 (GRCm39) |
I92T |
probably benign |
Het |
Nepn |
A |
G |
10: 52,277,181 (GRCm39) |
S306G |
probably damaging |
Het |
Nol8 |
T |
C |
13: 49,826,165 (GRCm39) |
V995A |
probably benign |
Het |
Or5b101 |
A |
G |
19: 13,005,165 (GRCm39) |
F176S |
probably damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,504 (GRCm39) |
T49S |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,622,750 (GRCm39) |
V275E |
probably damaging |
Het |
Or8g4 |
A |
G |
9: 39,661,957 (GRCm39) |
I92V |
possibly damaging |
Het |
Pde1a |
T |
A |
2: 79,698,657 (GRCm39) |
|
probably null |
Het |
Phf14 |
A |
G |
6: 11,987,696 (GRCm39) |
|
probably benign |
Het |
Plekhh2 |
C |
T |
17: 84,899,100 (GRCm39) |
Q1026* |
probably null |
Het |
Polr2b |
T |
A |
5: 77,468,797 (GRCm39) |
|
probably benign |
Het |
Ppp1r36 |
G |
T |
12: 76,483,056 (GRCm39) |
|
probably null |
Het |
Prdm14 |
A |
T |
1: 13,189,169 (GRCm39) |
C392S |
probably damaging |
Het |
Rabgap1l |
A |
G |
1: 160,509,686 (GRCm39) |
S436P |
possibly damaging |
Het |
Rfc2 |
A |
T |
5: 134,624,135 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
T |
10: 84,730,168 (GRCm39) |
M437L |
probably benign |
Het |
Rgs17 |
T |
A |
10: 5,792,583 (GRCm39) |
R74S |
probably benign |
Het |
Rnf139 |
C |
A |
15: 58,771,264 (GRCm39) |
L430I |
probably damaging |
Het |
Sgsm1 |
C |
A |
5: 113,422,226 (GRCm39) |
|
probably benign |
Het |
Skint6 |
T |
A |
4: 112,668,698 (GRCm39) |
T1126S |
possibly damaging |
Het |
Slc15a2 |
T |
C |
16: 36,573,398 (GRCm39) |
E602G |
probably damaging |
Het |
Stpg2 |
T |
C |
3: 138,948,954 (GRCm39) |
|
probably benign |
Het |
Sycp2l |
T |
C |
13: 41,283,001 (GRCm39) |
|
probably benign |
Het |
Tlr11 |
A |
T |
14: 50,598,275 (GRCm39) |
N87I |
probably benign |
Het |
Tril |
A |
G |
6: 53,795,348 (GRCm39) |
F625L |
probably damaging |
Het |
Usp34 |
G |
A |
11: 23,313,111 (GRCm39) |
G533R |
probably damaging |
Het |
Utp25 |
A |
G |
1: 192,810,778 (GRCm39) |
L75P |
probably damaging |
Het |
Zfp93 |
G |
T |
7: 23,974,900 (GRCm39) |
R295L |
probably benign |
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 |
IGL01901:Ube3c
|
APN |
5 |
29,873,005 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCAGTAGCACTTCACTCACTCAGAC -3'
(R):5'- TGCCACAGGTGTCATGGACTAAAAC -3'
Sequencing Primer
(F):5'- ACTCACTCAGACTCATTTTTCTGTTG -3'
(R):5'- AGCTGGACTAACTTGCTACTG -3'
|
Posted On |
2013-05-09 |