Incidental Mutation 'R5099:Ube2q2'
| ID |
388182 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ube2q2
|
| Ensembl Gene |
ENSMUSG00000032307 |
| Gene Name |
ubiquitin-conjugating enzyme E2Q family member 2 |
| Synonyms |
3010021M21Rik |
| MMRRC Submission |
042688-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R5099 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55056602-55114813 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 55113307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034859]
[ENSMUST00000059555]
[ENSMUST00000121677]
[ENSMUST00000122441]
[ENSMUST00000140375]
[ENSMUST00000146201]
[ENSMUST00000153970]
|
| AlphaFold |
Q8K2Z8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034859
|
| SMART Domains |
Protein: ENSMUSP00000034859
Gene: ENSMUSG00000032309
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
22 |
66 |
1.7e-6 |
PFAM |
|
FIST_C
|
231 |
365 |
2.61e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059555
|
| SMART Domains |
Protein: ENSMUSP00000059798
Gene: ENSMUSG00000032307
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
8 |
127 |
4.77e-1 |
SMART |
|
low complexity region
|
138 |
155 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
156 |
199 |
1e-19 |
BLAST |
|
UBCc
|
210 |
371 |
5.51e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121677
|
| SMART Domains |
Protein: ENSMUSP00000113336
Gene: ENSMUSG00000032307
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RWD
|
1 |
122 |
3e-7 |
PFAM |
|
UBCc
|
175 |
336 |
5.51e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122441
|
| SMART Domains |
Protein: ENSMUSP00000112745
Gene: ENSMUSG00000032307
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
32 |
N/A |
INTRINSIC |
|
Blast:UBCc
|
33 |
76 |
2e-20 |
BLAST |
|
UBCc
|
87 |
248 |
5.51e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140375
|
| SMART Domains |
Protein: ENSMUSP00000117341
Gene: ENSMUSG00000032309
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F-box
|
21 |
66 |
3e-8 |
PFAM |
|
Pfam:F-box-like
|
26 |
66 |
4.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146201
|
| SMART Domains |
Protein: ENSMUSP00000117106
Gene: ENSMUSG00000032309
| Domain | Start | End | E-Value | Type |
|---|
|
FIST_C
|
128 |
262 |
2.61e-6 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148468
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153970
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arsa |
A |
G |
15: 89,359,542 (GRCm39) |
L80P |
probably damaging |
Het |
| Bdkrb1 |
A |
G |
12: 105,570,533 (GRCm39) |
D33G |
probably benign |
Het |
| Ccdc178 |
A |
T |
18: 22,238,648 (GRCm39) |
V323E |
probably benign |
Het |
| Ceacam5 |
T |
C |
7: 17,479,513 (GRCm39) |
V210A |
probably damaging |
Het |
| Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
| Gbp9 |
A |
T |
5: 105,242,379 (GRCm39) |
L120Q |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gsr |
T |
A |
8: 34,161,556 (GRCm39) |
I121N |
probably damaging |
Het |
| Ift140 |
T |
A |
17: 25,309,674 (GRCm39) |
M1068K |
probably damaging |
Het |
| Jakmip2 |
A |
G |
18: 43,701,173 (GRCm39) |
I414T |
probably benign |
Het |
| Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
| Mecom |
A |
G |
3: 30,039,465 (GRCm39) |
|
probably benign |
Het |
| Mff |
C |
T |
1: 82,728,192 (GRCm39) |
|
probably benign |
Het |
| Ms4a20 |
T |
C |
19: 11,089,825 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
T |
2: 52,085,460 (GRCm39) |
C1545Y |
probably damaging |
Het |
| Or5ac24 |
C |
T |
16: 59,165,266 (GRCm39) |
G266D |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,413,809 (GRCm39) |
H6R |
probably benign |
Het |
| Or8k36-ps1 |
A |
T |
2: 86,437,560 (GRCm39) |
N118K |
unknown |
Het |
| Ppm1n |
A |
T |
7: 19,011,903 (GRCm39) |
L392Q |
possibly damaging |
Het |
| Prr22 |
T |
C |
17: 57,078,467 (GRCm39) |
F207L |
probably benign |
Het |
| Ptprv |
T |
C |
1: 135,046,592 (GRCm39) |
|
noncoding transcript |
Het |
| Rin2 |
G |
A |
2: 145,720,821 (GRCm39) |
C718Y |
probably damaging |
Het |
| Rpgrip1l |
G |
A |
8: 91,975,350 (GRCm39) |
T1089I |
probably benign |
Het |
| Scn1a |
A |
G |
2: 66,108,145 (GRCm39) |
V1510A |
probably damaging |
Het |
| Slfn3 |
A |
T |
11: 83,105,764 (GRCm39) |
Y587F |
probably damaging |
Het |
| Sp2 |
T |
C |
11: 96,852,175 (GRCm39) |
K250E |
probably damaging |
Het |
| Ssu2 |
A |
G |
6: 112,336,585 (GRCm39) |
S333P |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,493,030 (GRCm39) |
T419A |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,744 (GRCm39) |
M203K |
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,463 (GRCm39) |
Y62C |
probably benign |
Het |
| Tox |
G |
T |
4: 6,688,958 (GRCm39) |
Q469K |
probably benign |
Het |
| Trgv5 |
G |
T |
13: 19,376,886 (GRCm39) |
C111F |
probably damaging |
Het |
| Tyw5 |
T |
C |
1: 57,427,864 (GRCm39) |
N243D |
probably damaging |
Het |
| Ufl1 |
C |
T |
4: 25,275,914 (GRCm39) |
R83Q |
probably damaging |
Het |
| Unk |
A |
G |
11: 115,949,936 (GRCm39) |
Q701R |
probably benign |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,816 (GRCm39) |
C95S |
probably damaging |
Het |
| Vmn1r81 |
A |
G |
7: 11,994,248 (GRCm39) |
I120T |
possibly damaging |
Het |
|
| Other mutations in Ube2q2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02037:Ube2q2
|
APN |
9 |
55,075,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02380:Ube2q2
|
APN |
9 |
55,070,296 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02523:Ube2q2
|
APN |
9 |
55,099,163 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03121:Ube2q2
|
APN |
9 |
55,102,323 (GRCm39) |
splice site |
probably benign |
|
|
R0239:Ube2q2
|
UTSW |
9 |
55,070,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0239:Ube2q2
|
UTSW |
9 |
55,070,291 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1180:Ube2q2
|
UTSW |
9 |
55,102,700 (GRCm39) |
splice site |
probably benign |
|
|
R2185:Ube2q2
|
UTSW |
9 |
55,102,366 (GRCm39) |
splice site |
probably null |
|
|
R2570:Ube2q2
|
UTSW |
9 |
55,099,140 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4513:Ube2q2
|
UTSW |
9 |
55,057,084 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5541:Ube2q2
|
UTSW |
9 |
55,099,163 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6189:Ube2q2
|
UTSW |
9 |
55,070,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7382:Ube2q2
|
UTSW |
9 |
55,070,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Ube2q2
|
UTSW |
9 |
55,092,250 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8782:Ube2q2
|
UTSW |
9 |
55,070,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8844:Ube2q2
|
UTSW |
9 |
55,102,757 (GRCm39) |
missense |
|
|
|
Z1176:Ube2q2
|
UTSW |
9 |
55,087,858 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCGTTAGTCATAAGCAGTAACCAAATC -3'
(R):5'- TACAGTAAAGGCCCCACTGC -3'
Sequencing Primer
(F):5'- AAACAAGTGTAAGTTTCTACAGTAGG -3'
(R):5'- TGCTCAGTCCAAGATACCTAAAGTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation