Incidental Mutation 'IGL01344:Otud7b'
| ID |
75006 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Otud7b
|
| Ensembl Gene |
ENSMUSG00000038495 |
| Gene Name |
OTU domain containing 7B |
| Synonyms |
Za20d1, 2900060B22Rik, 4930463P07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01344
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96011839-96068446 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 96058297 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035519]
[ENSMUST00000090785]
[ENSMUST00000098849]
|
| AlphaFold |
B2RUR8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035519
|
| SMART Domains |
Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2L2D|A
|
1 |
59 |
1e-25 |
PDB |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
Pfam:OTU
|
189 |
359 |
4.9e-30 |
PFAM |
|
low complexity region
|
482 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
836 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090785
|
| SMART Domains |
Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2L2D|A
|
1 |
59 |
1e-25 |
PDB |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
Pfam:OTU
|
189 |
359 |
4.9e-30 |
PFAM |
|
low complexity region
|
482 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
836 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098849
|
| SMART Domains |
Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2L2D|A
|
1 |
59 |
1e-25 |
PDB |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
Pfam:OTU
|
189 |
359 |
4.7e-27 |
PFAM |
|
low complexity region
|
482 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
558 |
N/A |
INTRINSIC |
|
Pfam:zf-A20
|
797 |
821 |
6.3e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135263
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, tertiary lymphoid hyperplasia, increased stimulated B cell proliferation and survival and decreased susceptibility to C. rodentium infection. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930518I15Rik |
A |
G |
2: 156,699,020 (GRCm39) |
|
probably benign |
Het |
| Aak1 |
A |
G |
6: 86,923,139 (GRCm39) |
K237R |
possibly damaging |
Het |
| Antxrl |
A |
C |
14: 33,797,554 (GRCm39) |
M510L |
probably benign |
Het |
| Bdp1 |
T |
C |
13: 100,214,588 (GRCm39) |
D417G |
probably benign |
Het |
| C3 |
T |
G |
17: 57,531,880 (GRCm39) |
N250T |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,575,629 (GRCm39) |
I1073K |
probably benign |
Het |
| Ccin |
A |
T |
4: 43,984,069 (GRCm39) |
N159Y |
probably damaging |
Het |
| Cep76 |
T |
C |
18: 67,756,467 (GRCm39) |
T455A |
possibly damaging |
Het |
| Chaf1a |
T |
A |
17: 56,371,104 (GRCm39) |
V663E |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,079,052 (GRCm39) |
F454S |
probably damaging |
Het |
| Cimip2a |
A |
T |
2: 25,110,345 (GRCm39) |
I86F |
possibly damaging |
Het |
| Clasp2 |
A |
G |
9: 113,642,360 (GRCm39) |
|
probably null |
Het |
| Ctcfl |
G |
T |
2: 172,936,527 (GRCm39) |
A615E |
possibly damaging |
Het |
| Edaradd |
T |
C |
13: 12,493,371 (GRCm39) |
D107G |
probably damaging |
Het |
| Efl1 |
T |
C |
7: 82,330,688 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
A |
G |
8: 73,136,169 (GRCm39) |
|
probably null |
Het |
| Fahd2a |
T |
C |
2: 127,283,987 (GRCm39) |
K18E |
probably benign |
Het |
| Fbxl20 |
A |
T |
11: 97,990,926 (GRCm39) |
C147* |
probably null |
Het |
| Gsap |
G |
T |
5: 21,447,881 (GRCm39) |
|
probably null |
Het |
| Gtse1 |
A |
T |
15: 85,746,267 (GRCm39) |
|
probably null |
Het |
| Kcp |
A |
T |
6: 29,498,950 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,742,019 (GRCm39) |
D687G |
probably benign |
Het |
| Mcpt8 |
T |
A |
14: 56,321,402 (GRCm39) |
I21F |
probably damaging |
Het |
| Met |
C |
A |
6: 17,547,031 (GRCm39) |
S888Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,503 (GRCm39) |
T663A |
probably damaging |
Het |
| Ngf |
A |
G |
3: 102,427,628 (GRCm39) |
T130A |
probably benign |
Het |
| Preb |
C |
T |
5: 31,113,388 (GRCm39) |
V349M |
probably damaging |
Het |
| Prmt1 |
G |
T |
7: 44,627,059 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
C |
7: 18,294,342 (GRCm39) |
D355G |
probably damaging |
Het |
| Ptprt |
T |
A |
2: 161,393,737 (GRCm39) |
D1209V |
probably damaging |
Het |
| Rigi |
G |
A |
4: 40,208,883 (GRCm39) |
T698I |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,080,958 (GRCm39) |
N925S |
probably benign |
Het |
| Skint3 |
T |
A |
4: 112,147,519 (GRCm39) |
M414K |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,049,560 (GRCm39) |
S787R |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,940,856 (GRCm39) |
I288N |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,790,059 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
C |
T |
1: 44,022,422 (GRCm39) |
T940I |
probably benign |
Het |
| Trappc11 |
A |
T |
8: 47,972,739 (GRCm39) |
I278N |
probably damaging |
Het |
| Umodl1 |
G |
A |
17: 31,215,238 (GRCm39) |
V1021I |
probably damaging |
Het |
| Usp24 |
T |
C |
4: 106,236,582 (GRCm39) |
S1059P |
possibly damaging |
Het |
|
| Other mutations in Otud7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01651:Otud7b
|
APN |
3 |
96,060,807 (GRCm39) |
nonsense |
probably null |
|
|
IGL01941:Otud7b
|
APN |
3 |
96,062,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02376:Otud7b
|
APN |
3 |
96,062,354 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03047:Otud7b
|
APN |
3 |
96,058,301 (GRCm39) |
splice site |
probably benign |
|
|
IGL03189:Otud7b
|
APN |
3 |
96,062,795 (GRCm39) |
missense |
probably benign |
|
|
PIT4434001:Otud7b
|
UTSW |
3 |
96,047,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Otud7b
|
UTSW |
3 |
96,052,270 (GRCm39) |
unclassified |
probably benign |
|
|
R1364:Otud7b
|
UTSW |
3 |
96,058,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1570:Otud7b
|
UTSW |
3 |
96,063,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2172:Otud7b
|
UTSW |
3 |
96,060,837 (GRCm39) |
splice site |
probably null |
|
|
R2199:Otud7b
|
UTSW |
3 |
96,063,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2842:Otud7b
|
UTSW |
3 |
96,043,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2914:Otud7b
|
UTSW |
3 |
96,063,272 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4716:Otud7b
|
UTSW |
3 |
96,058,227 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4810:Otud7b
|
UTSW |
3 |
96,043,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4878:Otud7b
|
UTSW |
3 |
96,043,821 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5327:Otud7b
|
UTSW |
3 |
96,063,055 (GRCm39) |
missense |
probably benign |
|
|
R5376:Otud7b
|
UTSW |
3 |
96,060,841 (GRCm39) |
splice site |
probably null |
|
|
R5530:Otud7b
|
UTSW |
3 |
96,048,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5741:Otud7b
|
UTSW |
3 |
96,051,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5877:Otud7b
|
UTSW |
3 |
96,059,277 (GRCm39) |
nonsense |
probably null |
|
|
R6365:Otud7b
|
UTSW |
3 |
96,062,567 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7095:Otud7b
|
UTSW |
3 |
96,062,554 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7404:Otud7b
|
UTSW |
3 |
96,043,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7699:Otud7b
|
UTSW |
3 |
96,063,280 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7793:Otud7b
|
UTSW |
3 |
96,062,528 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7840:Otud7b
|
UTSW |
3 |
96,062,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:Otud7b
|
UTSW |
3 |
96,062,993 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9045:Otud7b
|
UTSW |
3 |
96,059,895 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9136:Otud7b
|
UTSW |
3 |
96,059,815 (GRCm39) |
splice site |
probably benign |
|
|
R9234:Otud7b
|
UTSW |
3 |
96,047,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation