Incidental Mutation 'IGL01353:Otub2'
| ID |
75428 |
| 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 # |
IGL01353
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103354941-103372609 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 103370581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 288
(M288L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137162
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021620]
[ENSMUST00000044923]
[ENSMUST00000056140]
[ENSMUST00000101094]
[ENSMUST00000110001]
[ENSMUST00000179684]
|
| AlphaFold |
Q9CQX0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021620
AA Change: M199L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000021620
Gene: ENSMUSG00000021203
AA Change: M199L
| 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 benign
Transcript: ENSMUST00000101094
AA Change: M288L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098655
Gene: ENSMUSG00000021203
AA Change: M288L
| 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 benign
Transcript: ENSMUST00000179684
AA Change: M288L
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000137162
Gene: ENSMUSG00000021203
AA Change: M288L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C65
|
90 |
319 |
1.8e-78 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222715
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
A |
T |
11: 94,242,934 (GRCm39) |
V1304E |
possibly damaging |
Het |
| Acr |
T |
C |
15: 89,453,695 (GRCm39) |
L78P |
probably damaging |
Het |
| Adamts12 |
T |
C |
15: 11,292,091 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,093 (GRCm39) |
S872P |
probably damaging |
Het |
| Adhfe1 |
T |
A |
1: 9,637,088 (GRCm39) |
N413K |
probably benign |
Het |
| Apoh |
T |
A |
11: 108,288,211 (GRCm39) |
C110S |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,663,869 (GRCm39) |
F805L |
probably damaging |
Het |
| Bin3 |
C |
T |
14: 70,372,275 (GRCm39) |
L191F |
possibly damaging |
Het |
| Col3a1 |
A |
G |
1: 45,372,798 (GRCm39) |
|
probably benign |
Het |
| Dapp1 |
T |
C |
3: 137,667,241 (GRCm39) |
K107R |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,233,418 (GRCm39) |
V259A |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,150,439 (GRCm39) |
M775V |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,971,397 (GRCm39) |
L1597P |
probably damaging |
Het |
| Elfn2 |
G |
A |
15: 78,556,618 (GRCm39) |
A643V |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 60,245,258 (GRCm39) |
T314A |
probably damaging |
Het |
| Fn1 |
C |
A |
1: 71,626,098 (GRCm39) |
W2237L |
probably damaging |
Het |
| Foxp4 |
T |
A |
17: 48,199,078 (GRCm39) |
D97V |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,781,048 (GRCm39) |
T640K |
probably benign |
Het |
| Lypd10 |
G |
T |
7: 24,413,662 (GRCm39) |
S226I |
probably damaging |
Het |
| Miga2 |
G |
A |
2: 30,261,245 (GRCm39) |
|
probably null |
Het |
| Nacad |
T |
A |
11: 6,550,530 (GRCm39) |
Q887L |
possibly damaging |
Het |
| Or2m13 |
C |
T |
16: 19,226,333 (GRCm39) |
M145I |
probably benign |
Het |
| Or4d1 |
T |
C |
11: 87,804,998 (GRCm39) |
I245V |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,343 (GRCm39) |
N297S |
probably damaging |
Het |
| Or8k24 |
A |
T |
2: 86,216,365 (GRCm39) |
Y132* |
probably null |
Het |
| Otud4 |
A |
G |
8: 80,391,650 (GRCm39) |
S432G |
probably benign |
Het |
| Pcca |
G |
A |
14: 122,820,029 (GRCm39) |
V58I |
probably damaging |
Het |
| Pdpr |
T |
A |
8: 111,847,910 (GRCm39) |
|
probably null |
Het |
| Pinx1 |
C |
A |
14: 64,103,564 (GRCm39) |
Q48K |
probably benign |
Het |
| Pkd1l2 |
G |
T |
8: 117,784,182 (GRCm39) |
S698R |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,938 (GRCm39) |
R71G |
possibly damaging |
Het |
| Psmd3 |
T |
A |
11: 98,581,426 (GRCm39) |
V271E |
probably benign |
Het |
| Smarcc1 |
A |
G |
9: 109,964,734 (GRCm39) |
N97S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,929,015 (GRCm39) |
G319S |
probably damaging |
Het |
| Tmem67 |
C |
A |
4: 12,079,895 (GRCm39) |
C132F |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,667,474 (GRCm39) |
L780P |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,433,426 (GRCm39) |
T7A |
unknown |
Het |
| Vmn1r76 |
T |
G |
7: 11,664,737 (GRCm39) |
H159P |
probably damaging |
Het |
| Vnn1 |
G |
A |
10: 23,776,738 (GRCm39) |
C363Y |
probably damaging |
Het |
| Wdr64 |
T |
G |
1: 175,559,151 (GRCm39) |
L305V |
probably damaging |
Het |
| Zkscan4 |
T |
C |
13: 21,668,518 (GRCm39) |
L323P |
probably damaging |
Het |
| Zscan10 |
A |
T |
17: 23,828,574 (GRCm39) |
H295L |
probably damaging |
Het |
|
| Other mutations in Otub2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02950:Otub2
|
APN |
12 |
103,369,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-10-07 |
Incidental Mutation