Incidental Mutation 'R2914:Otud7b'
| ID |
254790 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud7b
|
| Ensembl Gene |
ENSMUSG00000038495 |
| Gene Name |
OTU domain containing 7B |
| Synonyms |
Za20d1, 2900060B22Rik, 4930463P07Rik |
| MMRRC Submission |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96011839-96068446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 96063272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 837
(A837E)
|
| 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: A837E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: A837E
| 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: A837E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: A837E
| 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: A837E
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: A837E
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Slx4ip |
A |
G |
2: 136,909,511 (GRCm39) |
|
probably null |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCTGATTCCTATAGCAATGG -3'
(R):5'- CAAGTCAACTGTGTGCGCAG -3'
Sequencing Primer
(F):5'- GCAATGGCTACAGAGAGCCC -3'
(R):5'- TGCGCAGGAGCAGTACTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation