Incidental Mutation 'BB012:Ube3c'
| ID |
642698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3c
|
| Ensembl Gene |
ENSMUSG00000039000 |
| Gene Name |
ubiquitin protein ligase E3C |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
BB012
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
29774240-29881075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29851429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 752
(I752N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049453]
|
| AlphaFold |
Q80U95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049453
AA Change: I752N
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: I752N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
T |
7: 40,643,506 (GRCm39) |
Q392* |
probably null |
Het |
| 4933427D14Rik |
A |
C |
11: 72,071,327 (GRCm39) |
L473V |
probably benign |
Het |
| A930002H24Rik |
A |
T |
17: 64,170,392 (GRCm39) |
V132E |
unknown |
Het |
| Abcc2 |
A |
G |
19: 43,795,551 (GRCm39) |
I436V |
probably benign |
Het |
| Ahr |
G |
A |
12: 35,565,067 (GRCm39) |
Q103* |
probably null |
Het |
| Asb15 |
T |
A |
6: 24,562,723 (GRCm39) |
H228Q |
probably benign |
Het |
| Asphd1 |
T |
A |
7: 126,547,628 (GRCm39) |
Y225F |
probably damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,319,969 (GRCm39) |
M468T |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,398,972 (GRCm39) |
I1540T |
probably benign |
Het |
| Ccn5 |
G |
C |
2: 163,670,961 (GRCm39) |
R156T |
possibly damaging |
Het |
| Cdh20 |
A |
T |
1: 104,912,473 (GRCm39) |
I576F |
probably damaging |
Het |
| Chst11 |
T |
A |
10: 83,026,788 (GRCm39) |
S72T |
probably damaging |
Het |
| Cldn17 |
T |
G |
16: 88,303,533 (GRCm39) |
K65N |
probably damaging |
Het |
| Cldn22 |
T |
C |
8: 48,278,222 (GRCm39) |
I220T |
probably benign |
Het |
| Coasy |
T |
G |
11: 100,974,522 (GRCm39) |
D229E |
probably benign |
Het |
| Colec10 |
T |
C |
15: 54,325,767 (GRCm39) |
V199A |
probably damaging |
Het |
| Cpn2 |
G |
T |
16: 30,079,619 (GRCm39) |
D27E |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,003,935 (GRCm39) |
|
probably null |
Het |
| Fat3 |
C |
T |
9: 15,942,656 (GRCm39) |
V1239I |
possibly damaging |
Het |
| Fbxl16 |
A |
G |
17: 26,035,880 (GRCm39) |
N159S |
probably benign |
Het |
| Fhad1 |
A |
G |
4: 141,681,498 (GRCm39) |
I514T |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,929,443 (GRCm39) |
K3949R |
probably damaging |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Grm3 |
T |
A |
5: 9,639,880 (GRCm39) |
E55V |
probably benign |
Het |
| Itgbl1 |
G |
A |
14: 124,210,735 (GRCm39) |
D478N |
possibly damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,282,247 (GRCm39) |
Y77* |
probably null |
Het |
| Kdm4c |
T |
C |
4: 74,323,058 (GRCm39) |
S997P |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lrrc28 |
T |
C |
7: 67,268,857 (GRCm39) |
Y71C |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,606,706 (GRCm39) |
W203R |
probably benign |
Het |
| Lrrc66 |
A |
T |
5: 73,765,835 (GRCm39) |
C403S |
possibly damaging |
Het |
| Ly6g6e |
A |
T |
17: 35,296,894 (GRCm39) |
E45V |
probably damaging |
Het |
| Mgam |
C |
T |
6: 40,735,985 (GRCm39) |
T1574I |
probably damaging |
Het |
| Msrb2 |
A |
T |
2: 19,388,091 (GRCm39) |
M80L |
probably benign |
Het |
| Musk |
T |
A |
4: 58,367,513 (GRCm39) |
L592Q |
probably damaging |
Het |
| Nlrp4a |
C |
A |
7: 26,150,011 (GRCm39) |
N539K |
probably benign |
Het |
| Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
| Opalin |
T |
A |
19: 41,052,242 (GRCm39) |
*144C |
probably null |
Het |
| Or1e28-ps1 |
A |
G |
11: 73,615,362 (GRCm39) |
S163P |
unknown |
Het |
| Or1l8 |
A |
G |
2: 36,817,371 (GRCm39) |
F252L |
possibly damaging |
Het |
| Or4f4-ps1 |
A |
G |
2: 111,330,166 (GRCm39) |
S190G |
probably damaging |
Het |
| Or9g4 |
T |
C |
2: 85,504,907 (GRCm39) |
E196G |
|
Het |
| Pgam2 |
T |
A |
11: 5,753,007 (GRCm39) |
H196L |
possibly damaging |
Het |
| Pgls |
T |
C |
8: 72,044,996 (GRCm39) |
S46P |
probably damaging |
Het |
| Prrc2b |
A |
G |
2: 32,094,127 (GRCm39) |
E503G |
probably damaging |
Het |
| Prss45 |
T |
C |
9: 110,670,103 (GRCm39) |
L304P |
unknown |
Het |
| Rbm20 |
T |
A |
19: 53,801,753 (GRCm39) |
V87D |
probably damaging |
Het |
| Rskr |
T |
C |
11: 78,182,449 (GRCm39) |
L86P |
probably damaging |
Het |
| Serpinb8 |
T |
C |
1: 107,526,715 (GRCm39) |
L85S |
probably benign |
Het |
| Sh2b2 |
A |
T |
5: 136,253,115 (GRCm39) |
H352Q |
probably benign |
Het |
| Slc6a17 |
T |
C |
3: 107,403,056 (GRCm39) |
I124V |
probably damaging |
Het |
| Smim10l1 |
G |
A |
6: 133,082,545 (GRCm39) |
V31M |
probably damaging |
Het |
| Snx10 |
T |
C |
6: 51,557,301 (GRCm39) |
S78P |
probably benign |
Het |
| Stard10 |
T |
C |
7: 100,991,838 (GRCm39) |
V187A |
probably damaging |
Het |
| Svil |
C |
A |
18: 5,118,357 (GRCm39) |
D2146E |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,749,627 (GRCm39) |
D301G |
probably null |
Het |
| Wwc1 |
T |
C |
11: 35,734,990 (GRCm39) |
M962V |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGGACCTTCTACATAAAAGTCGG -3'
(R):5'- GCCTTGCGAAAGAATCTCCC -3'
Sequencing Primer
(F):5'- CTACATAAAAGTCGGTATTTCTGGC -3'
(R):5'- CACAAGCATCTGAGCAGCTGG -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation