Incidental Mutation 'R5956:Ube3c'
| ID |
471171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3c
|
| Ensembl Gene |
ENSMUSG00000039000 |
| Gene Name |
ubiquitin protein ligase E3C |
| Synonyms |
|
| MMRRC Submission |
044144-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5956 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
29774240-29881075 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 29804054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049453]
[ENSMUST00000199032]
|
| AlphaFold |
Q80U95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049453
|
| SMART Domains |
Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
| 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 benign
Transcript: ENSMUST00000199032
|
| SMART Domains |
Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
A |
12: 71,203,893 (GRCm39) |
I398K |
possibly damaging |
Het |
| Acad9 |
A |
G |
3: 36,129,323 (GRCm39) |
|
probably benign |
Het |
| Acsm2 |
T |
C |
7: 119,153,704 (GRCm39) |
S5P |
unknown |
Het |
| Akp3 |
T |
C |
1: 87,054,667 (GRCm39) |
I334T |
probably damaging |
Het |
| Amy1 |
C |
T |
3: 113,357,311 (GRCm39) |
R176H |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,736,337 (GRCm39) |
|
probably benign |
Het |
| Cav1 |
C |
A |
6: 17,307,918 (GRCm39) |
N23K |
probably damaging |
Het |
| Cep126 |
A |
G |
9: 8,112,120 (GRCm39) |
V151A |
probably benign |
Het |
| Cnot1 |
A |
G |
8: 96,481,606 (GRCm39) |
|
probably null |
Het |
| Crim1 |
T |
A |
17: 78,623,146 (GRCm39) |
V448E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 48,655,278 (GRCm39) |
E8G |
possibly damaging |
Het |
| Ddx31 |
A |
T |
2: 28,764,185 (GRCm39) |
I464F |
probably damaging |
Het |
| Ddx54 |
A |
G |
5: 120,764,432 (GRCm39) |
|
probably benign |
Het |
| Dhx16 |
A |
G |
17: 36,193,762 (GRCm39) |
E319G |
probably damaging |
Het |
| Efl1 |
A |
G |
7: 82,301,107 (GRCm39) |
D37G |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,298,228 (GRCm39) |
R444G |
probably damaging |
Het |
| Exoc2 |
C |
A |
13: 31,004,606 (GRCm39) |
C859F |
probably benign |
Het |
| Gbx2 |
T |
C |
1: 89,860,908 (GRCm39) |
|
probably benign |
Het |
| Gm12258 |
G |
A |
11: 58,750,285 (GRCm39) |
A9T |
probably benign |
Het |
| Gpr141b |
T |
G |
13: 19,913,300 (GRCm39) |
|
noncoding transcript |
Het |
| Grm4 |
A |
G |
17: 27,654,129 (GRCm39) |
V607A |
probably benign |
Het |
| Gvin3 |
T |
C |
7: 106,200,677 (GRCm39) |
|
noncoding transcript |
Het |
| Ighv1-74 |
C |
A |
12: 115,766,455 (GRCm39) |
W55L |
probably damaging |
Het |
| Irx4 |
C |
A |
13: 73,415,626 (GRCm39) |
Y138* |
probably null |
Het |
| Itpr1 |
C |
A |
6: 108,482,988 (GRCm39) |
T2352K |
probably benign |
Het |
| Kcnk3 |
T |
G |
5: 30,745,854 (GRCm39) |
V65G |
probably damaging |
Het |
| Mctp2 |
T |
C |
7: 71,908,923 (GRCm39) |
E130G |
probably benign |
Het |
| Mgat5 |
C |
A |
1: 127,310,676 (GRCm39) |
R197S |
probably benign |
Het |
| Mpg |
T |
C |
11: 32,177,951 (GRCm39) |
|
probably null |
Het |
| Muc5b |
T |
C |
7: 141,417,910 (GRCm39) |
C3619R |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,764,583 (GRCm39) |
V1321I |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,815,391 (GRCm39) |
T658A |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,692,037 (GRCm39) |
S154P |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,411,217 (GRCm39) |
F1423I |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or9g3 |
A |
G |
2: 85,584,183 (GRCm39) |
|
probably benign |
Het |
| Osbpl6 |
A |
G |
2: 76,379,856 (GRCm39) |
R149G |
probably damaging |
Het |
| Pacc1 |
A |
G |
1: 191,080,568 (GRCm39) |
S263G |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,777,300 (GRCm39) |
W281R |
probably damaging |
Het |
| Pole |
C |
T |
5: 110,485,153 (GRCm39) |
|
probably benign |
Het |
| Rptn |
A |
G |
3: 93,305,334 (GRCm39) |
N889S |
possibly damaging |
Het |
| Scn10a |
A |
G |
9: 119,460,626 (GRCm39) |
S1084P |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Sertad2 |
G |
A |
11: 20,597,884 (GRCm39) |
G27S |
probably benign |
Het |
| Siglece |
T |
C |
7: 43,308,760 (GRCm39) |
T198A |
probably damaging |
Het |
| Sptb |
T |
A |
12: 76,650,942 (GRCm39) |
M1678L |
probably benign |
Het |
| Taf8 |
A |
T |
17: 47,809,467 (GRCm39) |
M98K |
probably damaging |
Het |
| Tead2 |
T |
A |
7: 44,870,138 (GRCm39) |
|
probably benign |
Het |
| Trrap |
C |
T |
5: 144,744,201 (GRCm39) |
|
silent |
Het |
| Ttn |
G |
T |
2: 76,775,914 (GRCm39) |
N1709K |
probably damaging |
Het |
| Ube3a |
T |
C |
7: 58,926,768 (GRCm39) |
|
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,567,123 (GRCm39) |
S910P |
probably damaging |
Het |
| Usp30 |
G |
A |
5: 114,257,682 (GRCm39) |
R280Q |
possibly damaging |
Het |
| Vsx1 |
T |
C |
2: 150,530,457 (GRCm39) |
S142G |
possibly damaging |
Het |
| Wdr95 |
T |
G |
5: 149,517,947 (GRCm39) |
C360G |
probably benign |
Het |
| Zbtb4 |
A |
G |
11: 69,669,040 (GRCm39) |
I588V |
probably benign |
Het |
| Zdhhc4 |
A |
T |
5: 143,310,604 (GRCm39) |
|
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,697,288 (GRCm39) |
N69K |
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 |
|
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 |
|
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'- CAGGTTGCTGCAAAACTGTAG -3'
(R):5'- CAAACAAGCAGCTCCTTTTAGG -3'
Sequencing Primer
(F):5'- GTTGCTGCAAAACTGTAGTGATGAC -3'
(R):5'- TCCTTTTAGGATGAGCCAGATGAACG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation