Incidental Mutation 'R6660:Ube2l6'
ID |
526795 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ube2l6
|
Ensembl Gene |
ENSMUSG00000027078 |
Gene Name |
ubiquitin-conjugating enzyme E2L 6 |
Synonyms |
UBCH8, Ubce8, 2810489I21Rik, Ubcm8, RIG-B |
MMRRC Submission |
044780-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.090)
|
Stock # |
R6660 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
84629172-84640347 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84636852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 99
(T99A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099702
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028471]
[ENSMUST00000102642]
[ENSMUST00000150325]
|
AlphaFold |
Q9QZU9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028471
|
SMART Domains |
Protein: ENSMUSP00000028471 Gene: ENSMUSG00000027077
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
72 |
N/A |
INTRINSIC |
coiled coil region
|
124 |
154 |
N/A |
INTRINSIC |
low complexity region
|
218 |
230 |
N/A |
INTRINSIC |
low complexity region
|
236 |
246 |
N/A |
INTRINSIC |
low complexity region
|
260 |
285 |
N/A |
INTRINSIC |
CH
|
345 |
444 |
5.55e-18 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102642
AA Change: T99A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000099702 Gene: ENSMUSG00000027078 AA Change: T99A
Domain | Start | End | E-Value | Type |
UBCc
|
5 |
149 |
1.03e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150325
|
SMART Domains |
Protein: ENSMUSP00000119507 Gene: ENSMUSG00000027078
Domain | Start | End | E-Value | Type |
PDB:2KJH|A
|
1 |
88 |
6e-18 |
PDB |
SCOP:d1c4zd_
|
3 |
40 |
7e-7 |
SMART |
Blast:UBCc
|
4 |
89 |
4e-26 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154709
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159150
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes (E1s), ubiquitin-conjugating enzymes (E2s) and ubiquitin-protein ligases (E3s). This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. This enzyme is highly similar in primary structure to the enzyme encoded by the UBE2L3 gene. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actg1 |
A |
T |
11: 120,237,581 (GRCm39) |
I289N |
probably damaging |
Het |
Atg5 |
A |
G |
10: 44,170,651 (GRCm39) |
N99S |
probably benign |
Het |
Ccdc88a |
A |
G |
11: 29,432,663 (GRCm39) |
Q1223R |
probably benign |
Het |
Cdc42 |
T |
C |
4: 137,056,145 (GRCm39) |
D122G |
probably benign |
Het |
Cpxm1 |
A |
G |
2: 130,238,069 (GRCm39) |
S127P |
probably damaging |
Het |
Cyfip2 |
A |
G |
11: 46,140,634 (GRCm39) |
C730R |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,409,273 (GRCm39) |
H436Q |
probably benign |
Het |
Dnah17 |
T |
C |
11: 117,991,014 (GRCm39) |
Y1236C |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,867,313 (GRCm39) |
R1000* |
probably null |
Het |
Ergic3 |
A |
G |
2: 155,859,754 (GRCm39) |
I227V |
probably damaging |
Het |
Fam227b |
G |
T |
2: 125,986,227 (GRCm39) |
P13Q |
probably damaging |
Het |
Gal |
A |
G |
19: 3,460,108 (GRCm39) |
L121P |
possibly damaging |
Het |
Garin2 |
T |
C |
12: 78,762,131 (GRCm39) |
V265A |
possibly damaging |
Het |
Ifi207 |
T |
C |
1: 173,556,972 (GRCm39) |
T589A |
probably benign |
Het |
Intu |
T |
C |
3: 40,586,100 (GRCm39) |
V27A |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,111,495 (GRCm39) |
I2249L |
probably benign |
Het |
Pdc |
T |
C |
1: 150,209,086 (GRCm39) |
Y190H |
probably damaging |
Het |
Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,944,358 (GRCm39) |
V1275A |
probably damaging |
Het |
Rgsl1 |
T |
A |
1: 153,701,512 (GRCm39) |
N314I |
possibly damaging |
Het |
Rpe65 |
A |
T |
3: 159,320,345 (GRCm39) |
N301Y |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,737,770 (GRCm39) |
|
probably null |
Het |
Sh3bp4 |
A |
G |
1: 89,080,888 (GRCm39) |
S902G |
possibly damaging |
Het |
Slc44a4 |
A |
T |
17: 35,149,201 (GRCm39) |
R705W |
probably damaging |
Het |
Slc4a10 |
A |
G |
2: 62,080,747 (GRCm39) |
I325V |
possibly damaging |
Het |
Spns1 |
A |
G |
7: 125,974,237 (GRCm39) |
|
probably null |
Het |
Syt6 |
T |
G |
3: 103,532,960 (GRCm39) |
L363R |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,544,759 (GRCm39) |
V32781A |
probably benign |
Het |
Unc13b |
A |
T |
4: 43,177,412 (GRCm39) |
|
probably benign |
Het |
Vmn1r189 |
A |
T |
13: 22,286,066 (GRCm39) |
L257H |
possibly damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfpm2 |
T |
C |
15: 40,518,981 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ube2l6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00567:Ube2l6
|
APN |
2 |
84,639,382 (GRCm39) |
missense |
possibly damaging |
0.79 |
IGL00592:Ube2l6
|
APN |
2 |
84,639,373 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02000:Ube2l6
|
APN |
2 |
84,639,506 (GRCm39) |
unclassified |
probably benign |
|
IGL02931:Ube2l6
|
APN |
2 |
84,633,195 (GRCm39) |
missense |
probably damaging |
0.99 |
R0129:Ube2l6
|
UTSW |
2 |
84,629,252 (GRCm39) |
start codon destroyed |
probably null |
0.17 |
R0277:Ube2l6
|
UTSW |
2 |
84,636,771 (GRCm39) |
splice site |
probably null |
|
R1612:Ube2l6
|
UTSW |
2 |
84,636,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R3923:Ube2l6
|
UTSW |
2 |
84,639,418 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5137:Ube2l6
|
UTSW |
2 |
84,633,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGATCAGGACCAGCTTCCC -3'
(R):5'- GTGAGCCTTTTCATCAGCTAAATC -3'
Sequencing Primer
(F):5'- ATCAGGACCAGCTTCCCTATGG -3'
(R):5'- TCCCAAGTGTTGAGATCCCAAGTG -3'
|
Posted On |
2018-07-23 |