Incidental Mutation 'R5849:Ube3c'
ID |
453762 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube3c
|
Ensembl Gene |
ENSMUSG00000039000 |
Gene Name |
ubiquitin protein ligase E3C |
Synonyms |
|
MMRRC Submission |
044066-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5849 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
29774240-29881075 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29863407 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 894
(L894Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049453]
|
AlphaFold |
Q80U95 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000049453
AA Change: L894Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000045998 Gene: ENSMUSG00000039000 AA Change: L894Q
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 |
|
Meta Mutation Damage Score |
0.5707 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
Validation Efficiency |
96% (72/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930553M12Rik |
T |
C |
4: 88,786,596 (GRCm39) |
I7M |
unknown |
Het |
Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
Agbl1 |
T |
C |
7: 75,974,846 (GRCm39) |
S113P |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,224,045 (GRCm39) |
D486G |
probably benign |
Het |
Aopep |
A |
G |
13: 63,163,312 (GRCm39) |
D111G |
probably benign |
Het |
Arhgap11a |
T |
C |
2: 113,665,192 (GRCm39) |
S469G |
probably null |
Het |
Comtd1 |
C |
T |
14: 21,898,188 (GRCm39) |
G48D |
probably damaging |
Het |
Cyp27a1 |
T |
C |
1: 74,775,843 (GRCm39) |
S343P |
probably damaging |
Het |
Dcun1d1 |
T |
A |
3: 35,970,333 (GRCm39) |
|
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,744,223 (GRCm39) |
I1404T |
possibly damaging |
Het |
Dlgap5 |
A |
G |
14: 47,626,892 (GRCm39) |
S766P |
possibly damaging |
Het |
Ebf1 |
T |
A |
11: 44,881,331 (GRCm39) |
|
probably null |
Het |
Flcn |
T |
A |
11: 59,695,586 (GRCm39) |
I4L |
probably damaging |
Het |
Gm57858 |
A |
T |
3: 36,087,026 (GRCm39) |
D189E |
possibly damaging |
Het |
Grin2c |
T |
C |
11: 115,151,817 (GRCm39) |
T48A |
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,891,555 (GRCm39) |
S456R |
probably benign |
Het |
Igf1r |
A |
G |
7: 67,839,781 (GRCm39) |
D696G |
probably benign |
Het |
Iqgap1 |
A |
T |
7: 80,452,906 (GRCm39) |
V13D |
probably benign |
Het |
Itgal |
A |
G |
7: 126,916,492 (GRCm39) |
N728S |
probably benign |
Het |
Kcnb1 |
T |
A |
2: 166,947,946 (GRCm39) |
I301F |
probably damaging |
Het |
Kcnd3 |
A |
G |
3: 105,366,111 (GRCm39) |
|
probably benign |
Het |
Kdm4a |
C |
T |
4: 118,019,037 (GRCm39) |
R393Q |
probably benign |
Het |
Lcn9 |
G |
A |
2: 25,713,268 (GRCm39) |
|
probably null |
Het |
Madcam1 |
T |
A |
10: 79,500,824 (GRCm39) |
M47K |
probably benign |
Het |
Matn3 |
A |
G |
12: 9,008,829 (GRCm39) |
Q314R |
probably benign |
Het |
Msh3 |
A |
T |
13: 92,386,386 (GRCm39) |
D826E |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,595,213 (GRCm39) |
T3088S |
possibly damaging |
Het |
Mup3 |
T |
G |
4: 62,005,172 (GRCm39) |
|
probably null |
Het |
Myo15b |
A |
G |
11: 115,772,759 (GRCm39) |
K1807E |
probably damaging |
Het |
Myrip |
A |
G |
9: 120,282,759 (GRCm39) |
D688G |
probably damaging |
Het |
Nup153 |
A |
G |
13: 46,840,452 (GRCm39) |
F1052S |
probably damaging |
Het |
Oplah |
T |
A |
15: 76,181,547 (GRCm39) |
|
probably benign |
Het |
Or4f14d |
A |
T |
2: 111,960,223 (GRCm39) |
I311K |
probably benign |
Het |
Or52r1c |
T |
A |
7: 102,734,728 (GRCm39) |
M1K |
probably null |
Het |
Or6z3 |
A |
T |
7: 6,463,993 (GRCm39) |
I162F |
possibly damaging |
Het |
Or9g19 |
A |
T |
2: 85,600,768 (GRCm39) |
I208F |
probably benign |
Het |
Pacsin2 |
A |
G |
15: 83,274,719 (GRCm39) |
F120L |
possibly damaging |
Het |
Ppp1r36 |
C |
A |
12: 76,485,931 (GRCm39) |
P363Q |
probably damaging |
Het |
Rai1 |
C |
A |
11: 60,081,347 (GRCm39) |
H1804N |
possibly damaging |
Het |
Rictor |
G |
A |
15: 6,823,487 (GRCm39) |
E1555K |
probably benign |
Het |
Rnf214 |
G |
A |
9: 45,779,386 (GRCm39) |
P455S |
probably damaging |
Het |
Rnf220 |
T |
C |
4: 117,134,809 (GRCm39) |
T188A |
possibly damaging |
Het |
S1pr4 |
C |
T |
10: 81,335,157 (GRCm39) |
V106M |
possibly damaging |
Het |
Sall2 |
C |
A |
14: 52,551,704 (GRCm39) |
S495I |
probably benign |
Het |
Sars2 |
A |
G |
7: 28,443,683 (GRCm39) |
E95G |
possibly damaging |
Het |
Sema3f |
G |
A |
9: 107,559,815 (GRCm39) |
T693M |
probably damaging |
Het |
Slfn2 |
C |
A |
11: 82,960,402 (GRCm39) |
T127K |
probably benign |
Het |
Snrpe |
T |
A |
1: 133,536,652 (GRCm39) |
I43L |
probably benign |
Het |
Srsf1 |
T |
C |
11: 87,938,684 (GRCm39) |
I7T |
possibly damaging |
Het |
Ssbp1 |
T |
A |
6: 40,453,837 (GRCm39) |
|
probably benign |
Het |
Stbd1 |
T |
G |
5: 92,752,854 (GRCm39) |
F115V |
probably benign |
Het |
Stk11ip |
T |
A |
1: 75,503,999 (GRCm39) |
|
probably null |
Het |
Taf1b |
T |
A |
12: 24,550,524 (GRCm39) |
N36K |
probably damaging |
Het |
Tanc1 |
A |
T |
2: 59,630,248 (GRCm39) |
M743L |
probably benign |
Het |
Tnfsf12 |
C |
A |
11: 69,577,793 (GRCm39) |
R208L |
probably damaging |
Het |
Trafd1 |
T |
C |
5: 121,511,534 (GRCm39) |
D428G |
probably damaging |
Het |
Trim24 |
A |
G |
6: 37,934,664 (GRCm39) |
E793G |
probably damaging |
Het |
Tspan32 |
T |
C |
7: 142,569,324 (GRCm39) |
C100R |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,576,586 (GRCm39) |
D16442G |
probably damaging |
Het |
Wfs1 |
C |
G |
5: 37,130,608 (GRCm39) |
G213R |
probably damaging |
Het |
Zfp384 |
G |
A |
6: 125,001,062 (GRCm39) |
A45T |
possibly damaging |
Het |
Zfp865 |
G |
T |
7: 5,034,086 (GRCm39) |
K690N |
probably damaging |
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 |
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'- AACATGTTGGTGGAGCTACCC -3'
(R):5'- GCTTCAGCACAACCAGGGATAC -3'
Sequencing Primer
(F):5'- TGGAGCTACCCTTTGCTGGC -3'
(R):5'- TTCAGCACAACCAGGGATACAATTC -3'
|
Posted On |
2017-02-10 |