Incidental Mutation 'R1270:Ube2q2l'
| ID |
151271 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2q2l
|
| Ensembl Gene |
ENSMUSG00000045291 |
| Gene Name |
ubiquitin conjugating enzyme E2 Q2 like |
| Synonyms |
E330021D16Rik |
| MMRRC Submission |
039336-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.273)
|
| Stock # |
R1270 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
136400317-136415569 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136401787 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 15
(I15N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144858
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058713]
[ENSMUST00000203392]
[ENSMUST00000204830]
|
| AlphaFold |
Q8BW45 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058713
AA Change: I15N
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000060726
Gene: ENSMUSG00000045291
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RWD
|
7 |
135 |
7e-63 |
BLAST |
|
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
|
UBCc
|
204 |
364 |
2.33e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203392
AA Change: I15N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144858
Gene: ENSMUSG00000045291
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RWD
|
1 |
110 |
8.9e-5 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204830
AA Change: I15N
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000145343
Gene: ENSMUSG00000045291
AA Change: I15N
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RWD
|
7 |
135 |
7e-63 |
BLAST |
|
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
|
UBCc
|
204 |
364 |
2.33e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.4083 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.7%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
C |
T |
11: 94,357,384 (GRCm38) |
R1129Q |
probably damaging |
Het |
| Adam7 |
T |
A |
14: 68,527,669 (GRCm38) |
K93M |
probably damaging |
Het |
| Aldh1a2 |
T |
G |
9: 71,281,706 (GRCm38) |
L301V |
probably benign |
Het |
| Alg9 |
A |
G |
9: 50,787,572 (GRCm38) |
|
probably benign |
Het |
| Aspg |
C |
T |
12: 112,116,447 (GRCm38) |
T187I |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 36,952,184 (GRCm38) |
H1662Q |
probably damaging |
Het |
| C4a |
A |
G |
17: 34,814,528 (GRCm38) |
|
noncoding transcript |
Het |
| Cdh2 |
T |
G |
18: 16,627,557 (GRCm38) |
|
probably benign |
Het |
| Ceacam1 |
T |
C |
7: 25,466,314 (GRCm38) |
|
probably null |
Het |
| Cep250 |
G |
A |
2: 155,990,681 (GRCm38) |
V1509I |
probably benign |
Het |
| D130043K22Rik |
T |
C |
13: 24,857,338 (GRCm38) |
S248P |
probably benign |
Het |
| Dgkd |
A |
T |
1: 87,934,125 (GRCm38) |
M801L |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 105,891,264 (GRCm38) |
E1152G |
possibly damaging |
Het |
| Enkd1 |
A |
G |
8: 105,703,901 (GRCm38) |
I334T |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,723,744 (GRCm38) |
A803V |
probably benign |
Het |
| Glrx3 |
A |
G |
7: 137,453,414 (GRCm38) |
N95S |
probably benign |
Het |
| Ints2 |
C |
T |
11: 86,233,085 (GRCm38) |
G626R |
probably damaging |
Het |
| Kank2 |
A |
T |
9: 21,772,760 (GRCm38) |
N724K |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 28,966,931 (GRCm38) |
D416G |
possibly damaging |
Het |
| Lmtk3 |
A |
G |
7: 45,793,828 (GRCm38) |
E645G |
probably damaging |
Het |
| Mrgpra9 |
A |
T |
7: 47,252,783 (GRCm38) |
|
probably null |
Het |
| Muc1 |
T |
A |
3: 89,232,107 (GRCm38) |
Y605N |
probably damaging |
Het |
| Or4a47 |
C |
T |
2: 89,835,322 (GRCm38) |
V208M |
possibly damaging |
Het |
| Or8g17 |
A |
C |
9: 39,019,247 (GRCm38) |
I98R |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,518,930 (GRCm38) |
I952N |
probably damaging |
Het |
| Shf |
G |
A |
2: 122,368,682 (GRCm38) |
P51S |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,942,659 (GRCm38) |
Y90* |
probably null |
Het |
| Swt1 |
A |
T |
1: 151,384,391 (GRCm38) |
N752K |
probably benign |
Het |
| Taar1 |
T |
C |
10: 23,920,533 (GRCm38) |
V43A |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,041,659 (GRCm38) |
N1702D |
probably damaging |
Het |
| Tff2 |
C |
T |
17: 31,144,169 (GRCm38) |
|
probably null |
Het |
| Trim2 |
G |
A |
3: 84,167,677 (GRCm38) |
A686V |
probably damaging |
Het |
|
| Other mutations in Ube2q2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00667:Ube2q2l
|
APN |
6 |
136,400,998 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
IGL01701:Ube2q2l
|
APN |
6 |
136,400,806 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02194:Ube2q2l
|
APN |
6 |
136,401,058 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03266:Ube2q2l
|
APN |
6 |
136,400,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1893:Ube2q2l
|
UTSW |
6 |
136,401,827 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R4192:Ube2q2l
|
UTSW |
6 |
136,401,437 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5371:Ube2q2l
|
UTSW |
6 |
136,401,373 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6418:Ube2q2l
|
UTSW |
6 |
136,401,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6999:Ube2q2l
|
UTSW |
6 |
136,401,274 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7035:Ube2q2l
|
UTSW |
6 |
136,401,349 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7316:Ube2q2l
|
UTSW |
6 |
136,401,278 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8125:Ube2q2l
|
UTSW |
6 |
136,401,186 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R8179:Ube2q2l
|
UTSW |
6 |
136,401,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8222:Ube2q2l
|
UTSW |
6 |
136,400,884 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8225:Ube2q2l
|
UTSW |
6 |
136,401,112 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8421:Ube2q2l
|
UTSW |
6 |
136,401,352 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8784:Ube2q2l
|
UTSW |
6 |
136,401,731 (GRCm38) |
nonsense |
probably null |
|
|
R9080:Ube2q2l
|
UTSW |
6 |
136,400,722 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9103:Ube2q2l
|
UTSW |
6 |
136,401,013 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9279:Ube2q2l
|
UTSW |
6 |
136,400,980 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGAGCTGCTGACTAAGCGAAC -3'
(R):5'- GCCTATTGCCTGGCTAAGAGACAAC -3'
Sequencing Primer
(F):5'- GCTGACTAAGCGAACTGTCTG -3'
(R):5'- CCTCTTGGGAAGATGGATTCTCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation