Incidental Mutation 'R8467:Otud7b'
ID |
656870 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otud7b
|
Ensembl Gene |
ENSMUSG00000038495 |
Gene Name |
OTU domain containing 7B |
Synonyms |
Za20d1, 2900060B22Rik, 4930463P07Rik |
MMRRC Submission |
067911-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8467 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96011839-96068446 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96062993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 744
(D744G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096449
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035519]
[ENSMUST00000090785]
[ENSMUST00000098849]
|
AlphaFold |
B2RUR8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035519
AA Change: D744G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000046413 Gene: ENSMUSG00000038495 AA Change: D744G
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
AA Change: D744G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000088291 Gene: ENSMUSG00000038495 AA Change: D744G
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
AA Change: D744G
PolyPhen 2
Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000096449 Gene: ENSMUSG00000038495 AA Change: D744G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (38/38) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apon |
G |
A |
10: 128,091,002 (GRCm39) |
V227I |
probably benign |
Het |
Arl9 |
T |
C |
5: 77,154,446 (GRCm39) |
I58T |
probably damaging |
Het |
C4b |
T |
C |
17: 34,951,787 (GRCm39) |
T1326A |
possibly damaging |
Het |
Cd55b |
A |
C |
1: 130,347,501 (GRCm39) |
S103R |
possibly damaging |
Het |
Cep350 |
A |
G |
1: 155,791,321 (GRCm39) |
F1268L |
probably benign |
Het |
D17H6S53E |
T |
A |
17: 35,346,246 (GRCm39) |
D52E |
probably damaging |
Het |
Dhx57 |
G |
C |
17: 80,561,853 (GRCm39) |
P887R |
probably damaging |
Het |
Ehd1 |
T |
G |
19: 6,331,318 (GRCm39) |
S159A |
probably benign |
Het |
Fam98a |
C |
A |
17: 75,851,830 (GRCm39) |
G84W |
probably damaging |
Het |
Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
Gbp11 |
T |
A |
5: 105,475,457 (GRCm39) |
Y297F |
probably damaging |
Het |
Gimap8 |
A |
G |
6: 48,627,269 (GRCm39) |
H81R |
probably benign |
Het |
Gpd2 |
A |
G |
2: 57,254,596 (GRCm39) |
E680G |
possibly damaging |
Het |
Grid2 |
A |
G |
6: 64,510,635 (GRCm39) |
D755G |
probably benign |
Het |
Hivep3 |
T |
C |
4: 119,952,238 (GRCm39) |
Y185H |
probably damaging |
Het |
Hunk |
A |
G |
16: 90,293,508 (GRCm39) |
R597G |
probably damaging |
Het |
Igfbp3 |
A |
G |
11: 7,163,523 (GRCm39) |
C90R |
probably damaging |
Het |
Il7r |
T |
C |
15: 9,512,973 (GRCm39) |
T179A |
probably benign |
Het |
Iqsec3 |
G |
A |
6: 121,358,676 (GRCm39) |
T1003I |
probably benign |
Het |
Kif13b |
A |
T |
14: 64,996,154 (GRCm39) |
D980V |
probably damaging |
Het |
Kif21b |
A |
G |
1: 136,100,021 (GRCm39) |
D1525G |
probably damaging |
Het |
Lgsn |
A |
G |
1: 31,242,731 (GRCm39) |
E271G |
probably benign |
Het |
Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
Marchf10 |
A |
T |
11: 105,280,979 (GRCm39) |
Y435* |
probably null |
Het |
Msantd5 |
A |
G |
11: 51,125,105 (GRCm39) |
I108V |
possibly damaging |
Het |
Mup9 |
C |
T |
4: 60,376,481 (GRCm39) |
|
probably null |
Het |
Myo6 |
T |
A |
9: 80,136,168 (GRCm39) |
V97E |
probably damaging |
Het |
Nobox |
G |
T |
6: 43,282,479 (GRCm39) |
D309E |
probably benign |
Het |
Nup155 |
A |
G |
15: 8,151,015 (GRCm39) |
D355G |
probably benign |
Het |
Or6n1 |
A |
T |
1: 173,917,007 (GRCm39) |
T134S |
probably benign |
Het |
Phgdh |
A |
G |
3: 98,228,627 (GRCm39) |
V182A |
probably benign |
Het |
Scarb1 |
A |
T |
5: 125,375,731 (GRCm39) |
I231N |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,332,015 (GRCm39) |
L1276P |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,597,121 (GRCm39) |
M1K |
probably null |
Het |
Sp3 |
G |
A |
2: 72,801,482 (GRCm39) |
T177I |
possibly damaging |
Het |
Vmn1r21 |
A |
T |
6: 57,821,441 (GRCm39) |
M1K |
probably null |
Het |
Zfyve16 |
A |
T |
13: 92,644,790 (GRCm39) |
H1137Q |
probably damaging |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAGTTAGTGGGCCTCCTCC -3'
(R):5'- TAGAAGCTGCAGTTCGGTTG -3'
Sequencing Primer
(F):5'- AGGACCAGCCCAGTGACTC -3'
(R):5'- AAGCTGCAGTTCGGTTGTTTGC -3'
|
Posted On |
2021-01-18 |