Incidental Mutation 'R6658:Ube3c'
| ID |
526705 |
| 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 # |
R6658 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
29774240-29881075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29807215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 338
(L338Q)
|
| 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: L338Q
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: L338Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000197193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197953
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199032
AA Change: L338Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
AA Change: L338Q
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
96% (53/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,077,353 (GRCm39) |
N1340S |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Antxr1 |
C |
A |
6: 87,261,291 (GRCm39) |
R167L |
probably damaging |
Het |
| BC107364 |
T |
C |
3: 96,348,026 (GRCm39) |
S88G |
unknown |
Het |
| Cfap100 |
T |
G |
6: 90,390,400 (GRCm39) |
E80A |
probably damaging |
Het |
| Dhx8 |
C |
A |
11: 101,655,748 (GRCm39) |
H1107Q |
probably damaging |
Het |
| Dip2c |
G |
A |
13: 9,543,213 (GRCm39) |
|
probably null |
Het |
| Dpep2 |
A |
T |
8: 106,716,542 (GRCm39) |
D212E |
probably benign |
Het |
| Dpep3 |
T |
C |
8: 106,705,728 (GRCm39) |
T66A |
probably benign |
Het |
| Fat4 |
G |
T |
3: 38,997,077 (GRCm39) |
M1765I |
probably benign |
Het |
| Gbgt1 |
G |
A |
2: 28,394,998 (GRCm39) |
R212H |
probably benign |
Het |
| Gimap4 |
T |
C |
6: 48,668,338 (GRCm39) |
S215P |
possibly damaging |
Het |
| Gpr161 |
A |
T |
1: 165,134,136 (GRCm39) |
T133S |
possibly damaging |
Het |
| Grin2c |
G |
T |
11: 115,149,108 (GRCm39) |
S163R |
possibly damaging |
Het |
| Grip2 |
T |
A |
6: 91,763,472 (GRCm39) |
N109Y |
probably damaging |
Het |
| H60c |
G |
A |
10: 3,210,270 (GRCm39) |
T93I |
possibly damaging |
Het |
| Hmgcl |
A |
G |
4: 135,682,962 (GRCm39) |
N138S |
probably damaging |
Het |
| Hoxa3 |
G |
T |
6: 52,147,058 (GRCm39) |
Y398* |
probably null |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,091 (GRCm39) |
N19S |
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,181 (GRCm39) |
N275S |
probably benign |
Het |
| Il7 |
T |
A |
3: 7,642,239 (GRCm39) |
T33S |
probably benign |
Het |
| Iqgap2 |
A |
T |
13: 95,796,840 (GRCm39) |
Y1105N |
probably damaging |
Het |
| Lmo7 |
A |
G |
14: 102,148,281 (GRCm39) |
D934G |
possibly damaging |
Het |
| Mroh4 |
T |
C |
15: 74,492,978 (GRCm39) |
Q310R |
possibly damaging |
Het |
| Mtmr14 |
C |
A |
6: 113,242,437 (GRCm39) |
Y22* |
probably null |
Het |
| Muc5b |
G |
T |
7: 141,422,244 (GRCm39) |
|
probably null |
Het |
| Naga |
T |
G |
15: 82,214,975 (GRCm39) |
K328Q |
probably benign |
Het |
| Neo1 |
G |
A |
9: 58,829,132 (GRCm39) |
T589I |
probably benign |
Het |
| Nme5 |
A |
C |
18: 34,711,639 (GRCm39) |
I34S |
probably damaging |
Het |
| Nrip2 |
T |
C |
6: 128,385,199 (GRCm39) |
L210P |
possibly damaging |
Het |
| Nup93 |
A |
G |
8: 95,030,807 (GRCm39) |
D424G |
probably benign |
Het |
| Or12e9 |
T |
C |
2: 87,202,497 (GRCm39) |
V207A |
probably benign |
Het |
| Or1e26 |
G |
A |
11: 73,479,874 (GRCm39) |
S230F |
probably damaging |
Het |
| Papss1 |
T |
A |
3: 131,311,696 (GRCm39) |
V308E |
probably benign |
Het |
| Pilrb1 |
T |
A |
5: 137,855,789 (GRCm39) |
Y34F |
probably benign |
Het |
| Pira2 |
T |
A |
7: 3,845,300 (GRCm39) |
E319D |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,682,929 (GRCm39) |
T91M |
probably damaging |
Het |
| Prph2 |
A |
G |
17: 47,230,790 (GRCm39) |
T228A |
probably benign |
Het |
| Ranbp17 |
G |
T |
11: 33,169,214 (GRCm39) |
S1000* |
probably null |
Het |
| Rbm27 |
A |
C |
18: 42,457,178 (GRCm39) |
H651P |
probably damaging |
Het |
| Scyl2 |
A |
T |
10: 89,476,835 (GRCm39) |
D763E |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,488,644 (GRCm39) |
Y598C |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,451,322 (GRCm39) |
K322I |
probably benign |
Het |
| Tcf4 |
G |
A |
18: 69,790,873 (GRCm39) |
R271Q |
probably null |
Het |
| Tex36 |
C |
T |
7: 133,196,140 (GRCm39) |
D87N |
probably damaging |
Het |
| Tex44 |
A |
C |
1: 86,354,751 (GRCm39) |
H220P |
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,950,825 (GRCm39) |
D1683G |
possibly damaging |
Het |
| Trav7-2 |
T |
C |
14: 53,628,573 (GRCm39) |
S104P |
probably damaging |
Het |
| Trim55 |
C |
T |
3: 19,745,719 (GRCm39) |
R532C |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,546,556 (GRCm39) |
H3444R |
possibly damaging |
Het |
| Vars1 |
A |
G |
17: 35,234,717 (GRCm39) |
D1182G |
probably benign |
Het |
| Vit |
T |
A |
17: 78,930,232 (GRCm39) |
I399N |
possibly damaging |
Het |
| Vmn1r16 |
A |
T |
6: 57,300,091 (GRCm39) |
L177* |
probably null |
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 |
|
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 |
|
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'- AGGTCCTGCTAGTGCTTTGC -3'
(R):5'- AGCAGTCGAGTTTAACAGGCTG -3'
Sequencing Primer
(F):5'- CGTCTTAGGTTCCTGGAGACAAAAG -3'
(R):5'- CCTGGCTGCAGAACTAAGACTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation