Incidental Mutation 'IGL02950:Otub2'
| ID |
364909 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Otub2
|
| Ensembl Gene |
ENSMUSG00000021203 |
| Gene Name |
OTU domain, ubiquitin aldehyde binding 2 |
| Synonyms |
4930586I02Rik, OTU2, OTB2, 2010015L18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
IGL02950
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103354941-103372609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 103369632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 237
(D237G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021620]
[ENSMUST00000044923]
[ENSMUST00000056140]
[ENSMUST00000101094]
[ENSMUST00000110001]
[ENSMUST00000179684]
|
| AlphaFold |
Q9CQX0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021620
AA Change: D148G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203
AA Change: D148G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C65
|
1 |
230 |
2.9e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044923
|
| SMART Domains |
Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
180 |
N/A |
INTRINSIC |
|
DEXDc
|
212 |
541 |
1.14e-39 |
SMART |
|
HELICc
|
601 |
682 |
5.22e-25 |
SMART |
|
low complexity region
|
752 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056140
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101094
AA Change: D237G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203
AA Change: D237G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C65
|
90 |
319 |
4.4e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110001
|
| SMART Domains |
Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
226 |
N/A |
INTRINSIC |
|
DEXDc
|
258 |
587 |
1.14e-39 |
SMART |
|
HELICc
|
647 |
728 |
5.22e-25 |
SMART |
|
low complexity region
|
798 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
898 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148371
|
| SMART Domains |
Protein: ENSMUSP00000115673
Gene: ENSMUSG00000021203
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C65
|
43 |
142 |
1.2e-29 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000179684
AA Change: D237G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203
AA Change: D237G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C65
|
90 |
319 |
1.8e-78 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222782
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,814,406 (GRCm39) |
S1129C |
possibly damaging |
Het |
| Afm |
A |
T |
5: 90,679,466 (GRCm39) |
D320V |
probably damaging |
Het |
| Ap5m1 |
C |
T |
14: 49,311,392 (GRCm39) |
T154I |
probably benign |
Het |
| Bcl11b |
G |
A |
12: 107,956,065 (GRCm39) |
T28I |
probably benign |
Het |
| Bhlhe40 |
G |
T |
6: 108,641,503 (GRCm39) |
C149F |
probably damaging |
Het |
| Bmper |
A |
T |
9: 23,310,790 (GRCm39) |
D408V |
probably damaging |
Het |
| C1rl |
G |
A |
6: 124,485,820 (GRCm39) |
C397Y |
probably damaging |
Het |
| C2cd4c |
A |
G |
10: 79,448,665 (GRCm39) |
S161P |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,819,564 (GRCm39) |
K1118N |
probably benign |
Het |
| Cep290 |
T |
C |
10: 100,376,191 (GRCm39) |
|
probably benign |
Het |
| Cp |
T |
C |
3: 20,042,165 (GRCm39) |
Y978H |
probably damaging |
Het |
| Csf2ra |
T |
C |
19: 61,215,607 (GRCm39) |
D37G |
probably benign |
Het |
| Ddx24 |
A |
G |
12: 103,383,801 (GRCm39) |
V596A |
probably damaging |
Het |
| Dnmt3l |
A |
G |
10: 77,886,785 (GRCm39) |
S82G |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,331,753 (GRCm39) |
Y46C |
probably damaging |
Het |
| Eno2 |
A |
T |
6: 124,740,081 (GRCm39) |
D318E |
probably damaging |
Het |
| Gm43738 |
A |
C |
3: 88,996,355 (GRCm39) |
L120R |
probably damaging |
Het |
| Hgsnat |
C |
A |
8: 26,461,729 (GRCm39) |
C29F |
probably damaging |
Het |
| Hltf |
T |
A |
3: 20,130,736 (GRCm39) |
V318D |
probably benign |
Het |
| Kcnh8 |
A |
G |
17: 53,263,795 (GRCm39) |
H764R |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,892,142 (GRCm39) |
F411S |
probably benign |
Het |
| Lpcat4 |
C |
A |
2: 112,074,387 (GRCm39) |
N287K |
possibly damaging |
Het |
| Ltbp4 |
A |
C |
7: 27,006,143 (GRCm39) |
F1512V |
probably damaging |
Het |
| Mctp1 |
A |
T |
13: 77,172,929 (GRCm39) |
L868F |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,713,360 (GRCm39) |
|
probably benign |
Het |
| Or5g23 |
A |
T |
2: 85,438,501 (GRCm39) |
L251Q |
possibly damaging |
Het |
| Pax3 |
A |
G |
1: 78,079,997 (GRCm39) |
V463A |
probably benign |
Het |
| Podn |
T |
C |
4: 107,875,048 (GRCm39) |
K573R |
possibly damaging |
Het |
| Ppp5c |
A |
C |
7: 16,740,835 (GRCm39) |
S378A |
probably benign |
Het |
| Pramel29 |
A |
G |
4: 143,939,531 (GRCm39) |
V2A |
probably benign |
Het |
| Prl2a1 |
T |
A |
13: 27,988,914 (GRCm39) |
L13Q |
probably damaging |
Het |
| Ptgir |
A |
G |
7: 16,641,526 (GRCm39) |
T70A |
probably damaging |
Het |
| Ralyl |
C |
A |
3: 14,104,781 (GRCm39) |
N15K |
probably damaging |
Het |
| Rbck1 |
C |
T |
2: 152,172,997 (GRCm39) |
R17Q |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,796,884 (GRCm39) |
Y973H |
probably damaging |
Het |
| Sh2d6 |
A |
G |
6: 72,492,285 (GRCm39) |
V260A |
probably damaging |
Het |
| Spen |
G |
A |
4: 141,196,819 (GRCm39) |
P3559S |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,494,535 (GRCm39) |
V1032D |
probably damaging |
Het |
| Trav12-1 |
T |
A |
14: 53,776,024 (GRCm39) |
V59E |
probably damaging |
Het |
| Unc93a |
T |
A |
17: 13,344,455 (GRCm39) |
Q29L |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,808,525 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Otub2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01353:Otub2
|
APN |
12 |
103,370,581 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3001:Otub2
|
UTSW |
12 |
103,370,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Otub2
|
UTSW |
12 |
103,370,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3946:Otub2
|
UTSW |
12 |
103,359,085 (GRCm39) |
nonsense |
probably null |
|
|
R4120:Otub2
|
UTSW |
12 |
103,370,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4736:Otub2
|
UTSW |
12 |
103,359,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4737:Otub2
|
UTSW |
12 |
103,359,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4740:Otub2
|
UTSW |
12 |
103,359,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5385:Otub2
|
UTSW |
12 |
103,359,055 (GRCm39) |
intron |
probably benign |
|
|
R5806:Otub2
|
UTSW |
12 |
103,369,656 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5896:Otub2
|
UTSW |
12 |
103,369,687 (GRCm39) |
unclassified |
probably benign |
|
|
R6793:Otub2
|
UTSW |
12 |
103,355,278 (GRCm39) |
unclassified |
probably benign |
|
|
R7205:Otub2
|
UTSW |
12 |
103,359,163 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7265:Otub2
|
UTSW |
12 |
103,366,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Otub2
|
UTSW |
12 |
103,369,161 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8953:Otub2
|
UTSW |
12 |
103,370,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation