Incidental Mutation 'IGL01651:Otud7b'
ID |
102837 |
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 # |
IGL01651
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
96011839-96068446 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 96060807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 441
(Q441*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035519]
[ENSMUST00000090785]
[ENSMUST00000098849]
|
AlphaFold |
B2RUR8 |
Predicted Effect |
probably null
Transcript: ENSMUST00000035519
AA Change: Q441*
|
SMART Domains |
Protein: ENSMUSP00000046413 Gene: ENSMUSG00000038495 AA Change: Q441*
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 null
Transcript: ENSMUST00000090785
AA Change: Q441*
|
SMART Domains |
Protein: ENSMUSP00000088291 Gene: ENSMUSG00000038495 AA Change: Q441*
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 null
Transcript: ENSMUST00000098849
AA Change: Q441*
|
SMART Domains |
Protein: ENSMUSP00000096449 Gene: ENSMUSG00000038495 AA Change: Q441*
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
T |
C |
2: 181,136,531 (GRCm39) |
|
probably benign |
Het |
Alms1 |
T |
A |
6: 85,633,458 (GRCm39) |
V2980E |
probably benign |
Het |
Anxa7 |
A |
G |
14: 20,506,569 (GRCm39) |
L457P |
probably damaging |
Het |
Asic2 |
T |
C |
11: 80,784,856 (GRCm39) |
D310G |
probably damaging |
Het |
Btbd9 |
T |
C |
17: 30,439,391 (GRCm39) |
S599G |
unknown |
Het |
Col25a1 |
G |
A |
3: 130,360,134 (GRCm39) |
M487I |
probably benign |
Het |
Ddx42 |
T |
A |
11: 106,138,855 (GRCm39) |
F885I |
probably benign |
Het |
Foxi3 |
T |
C |
6: 70,933,975 (GRCm39) |
V154A |
probably damaging |
Het |
Golga3 |
A |
C |
5: 110,340,771 (GRCm39) |
|
probably null |
Het |
Igdcc4 |
T |
C |
9: 65,031,394 (GRCm39) |
V491A |
possibly damaging |
Het |
Kcnh7 |
T |
A |
2: 62,564,628 (GRCm39) |
D877V |
possibly damaging |
Het |
Kcnu1 |
A |
G |
8: 26,351,123 (GRCm39) |
D162G |
probably damaging |
Het |
Morc2a |
T |
C |
11: 3,608,727 (GRCm39) |
|
probably null |
Het |
Ndufv2 |
T |
C |
17: 66,396,466 (GRCm39) |
N47S |
possibly damaging |
Het |
Npepl1 |
T |
A |
2: 173,956,181 (GRCm39) |
|
probably benign |
Het |
Or6k4 |
A |
T |
1: 173,964,907 (GRCm39) |
D199V |
probably damaging |
Het |
Pard3b |
A |
C |
1: 62,518,963 (GRCm39) |
|
probably benign |
Het |
Pfkfb3 |
T |
C |
2: 11,494,495 (GRCm39) |
E143G |
probably damaging |
Het |
Pphln1 |
C |
A |
15: 93,386,864 (GRCm39) |
Q321K |
probably damaging |
Het |
Rnf121 |
A |
G |
7: 101,691,862 (GRCm39) |
S2P |
probably damaging |
Het |
Slc25a42 |
G |
A |
8: 70,639,250 (GRCm39) |
R276C |
possibly damaging |
Het |
Smgc |
T |
C |
15: 91,743,986 (GRCm39) |
|
probably benign |
Het |
Tdrd5 |
C |
T |
1: 156,129,397 (GRCm39) |
M104I |
probably benign |
Het |
Vmn2r26 |
T |
A |
6: 124,027,632 (GRCm39) |
N457K |
probably benign |
Het |
Zfp474 |
T |
C |
18: 52,771,655 (GRCm39) |
S103P |
probably damaging |
Het |
Zfp53 |
A |
G |
17: 21,728,348 (GRCm39) |
N127S |
probably benign |
Het |
|
Other mutations in Otud7b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01344:Otud7b
|
APN |
3 |
96,058,297 (GRCm39) |
splice site |
probably benign |
|
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 |
2014-01-21 |