Incidental Mutation 'R6877:Ube3c'
| ID |
536456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube3c
|
| Ensembl Gene |
ENSMUSG00000039000 |
| Gene Name |
ubiquitin protein ligase E3C |
| Synonyms |
|
| MMRRC Submission |
044973-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6877 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
29774240-29881075 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29792316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 37
(R37L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142474
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049453]
[ENSMUST00000199032]
|
| AlphaFold |
Q80U95 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049453
AA Change: R37L
PolyPhen 2
Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000045998
Gene: ENSMUSG00000039000
AA Change: R37L
| 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 benign
Transcript: ENSMUST00000199032
AA Change: R37L
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142474
Gene: ENSMUSG00000039000
AA Change: R37L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
94% (47/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,078,274 (GRCm39) |
H650R |
probably benign |
Het |
| Adgrl2 |
T |
C |
3: 148,522,922 (GRCm39) |
Y1367C |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,947,052 (GRCm39) |
C1043* |
probably null |
Het |
| Arhgef17 |
A |
G |
7: 100,530,548 (GRCm39) |
S1413P |
probably damaging |
Het |
| AU041133 |
A |
G |
10: 81,987,405 (GRCm39) |
T352A |
probably benign |
Het |
| Bcl7a |
A |
G |
5: 123,489,958 (GRCm39) |
T41A |
probably damaging |
Het |
| Btbd10 |
A |
T |
7: 112,921,967 (GRCm39) |
F298Y |
probably damaging |
Het |
| Ccdc57 |
G |
A |
11: 120,764,528 (GRCm39) |
T749I |
probably benign |
Het |
| Clcnkb |
T |
C |
4: 141,132,143 (GRCm39) |
N646S |
probably benign |
Het |
| Dcst1 |
T |
C |
3: 89,257,667 (GRCm39) |
D701G |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,455,997 (GRCm39) |
T1001K |
possibly damaging |
Het |
| Dnah8 |
G |
T |
17: 30,965,933 (GRCm39) |
G2422W |
probably damaging |
Het |
| Dyrk2 |
A |
T |
10: 118,696,328 (GRCm39) |
I310N |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,089,320 (GRCm39) |
N1099Y |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,768,033 (GRCm39) |
N762K |
probably benign |
Het |
| Esco2 |
A |
G |
14: 66,068,494 (GRCm39) |
V272A |
probably benign |
Het |
| Fat3 |
A |
C |
9: 15,910,564 (GRCm39) |
S1813A |
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,916,228 (GRCm39) |
V1710A |
probably damaging |
Het |
| Iqgap3 |
GGAGAG |
GGAG |
3: 88,020,078 (GRCm39) |
|
probably null |
Het |
| Kcnk5 |
T |
C |
14: 20,194,784 (GRCm39) |
T185A |
possibly damaging |
Het |
| Litafd |
G |
A |
16: 8,501,173 (GRCm39) |
V10I |
unknown |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,852,186 (GRCm39) |
C460S |
probably benign |
Het |
| Ntaq1 |
C |
A |
15: 58,017,074 (GRCm39) |
P163Q |
probably damaging |
Het |
| Or10g3b |
T |
A |
14: 52,587,270 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or4f14b |
T |
C |
2: 111,775,184 (GRCm39) |
I206V |
probably benign |
Het |
| Ovch2 |
G |
A |
7: 107,389,315 (GRCm39) |
A371V |
probably benign |
Het |
| Pcdhb4 |
A |
G |
18: 37,442,625 (GRCm39) |
D645G |
probably damaging |
Het |
| Pcnt |
A |
C |
10: 76,269,851 (GRCm39) |
S207A |
possibly damaging |
Het |
| Pex1 |
A |
T |
5: 3,685,505 (GRCm39) |
Q1211L |
probably benign |
Het |
| Pnn |
A |
G |
12: 59,115,553 (GRCm39) |
E99G |
probably damaging |
Het |
| Prkrip1 |
A |
T |
5: 136,218,478 (GRCm39) |
|
probably null |
Het |
| Rnf133 |
A |
G |
6: 23,649,486 (GRCm39) |
F191L |
probably benign |
Het |
| Scn10a |
T |
C |
9: 119,438,848 (GRCm39) |
T1674A |
probably damaging |
Het |
| Sdccag8 |
G |
A |
1: 176,839,501 (GRCm39) |
V682M |
probably damaging |
Het |
| Spi1 |
T |
C |
2: 90,944,741 (GRCm39) |
L162P |
probably damaging |
Het |
| Sptan1 |
C |
G |
2: 29,920,985 (GRCm39) |
N2432K |
probably damaging |
Het |
| Stx2 |
A |
G |
5: 129,064,884 (GRCm39) |
V271A |
probably benign |
Het |
| Sumf2 |
G |
A |
5: 129,878,867 (GRCm39) |
D68N |
probably damaging |
Het |
| Tsc22d4 |
A |
G |
5: 137,760,855 (GRCm39) |
E92G |
possibly damaging |
Het |
| Ubr5 |
A |
G |
15: 38,002,814 (GRCm39) |
S1446P |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,505 (GRCm39) |
N51S |
probably damaging |
Het |
| Vmn1r82 |
T |
C |
7: 12,039,290 (GRCm39) |
F70L |
possibly damaging |
Het |
| Vmn2r92 |
A |
G |
17: 18,389,084 (GRCm39) |
N466S |
probably damaging |
Het |
| Vwf |
T |
A |
6: 125,634,164 (GRCm39) |
V2153D |
possibly damaging |
Het |
| Yeats2 |
A |
G |
16: 19,998,344 (GRCm39) |
T300A |
probably benign |
Het |
| Zc3h12d |
G |
T |
10: 7,715,735 (GRCm39) |
R46L |
probably damaging |
Het |
| Zfp516 |
T |
C |
18: 82,973,916 (GRCm39) |
I38T |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
Het |
| Zpld1 |
C |
T |
16: 55,072,034 (GRCm39) |
G75E |
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 |
|
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 |
|
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'- GCATATTTGATTCTCCATATGCCAGC -3'
(R):5'- TACATTTCTCTACCCAGAACTCAGC -3'
Sequencing Primer
(F):5'- TTGATTCTCCATATGCCAGCAAAAAC -3'
(R):5'- TCAAGTCTATCTTTTCCTACAGTGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation