Incidental Mutation 'R2842:Otud7b'
| ID |
254309 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96011839-96068446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96043905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 19
(E19K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115699
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035519]
[ENSMUST00000090785]
[ENSMUST00000098849]
[ENSMUST00000132980]
[ENSMUST00000138206]
|
| AlphaFold |
B2RUR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035519
AA Change: E19K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: E19K
| 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 damaging
Transcript: ENSMUST00000090785
AA Change: E19K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: E19K
| 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 damaging
Transcript: ENSMUST00000098849
AA Change: E19K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: E19K
| 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 |
probably damaging
Transcript: ENSMUST00000132980
AA Change: E19K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115699
Gene: ENSMUSG00000038495
AA Change: E19K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
6 |
44 |
8.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138206
AA Change: E19K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121847
Gene: ENSMUSG00000038495
AA Change: E19K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
6 |
44 |
2.7e-7 |
PFAM |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146660
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| Arl8a |
T |
C |
1: 135,082,989 (GRCm39) |
S181P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,387,734 (GRCm39) |
S396P |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,348 (GRCm39) |
V1541A |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,846,681 (GRCm39) |
K295* |
probably null |
Het |
| Frem3 |
T |
A |
8: 81,395,978 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,802,794 (GRCm39) |
V1135A |
probably damaging |
Het |
| Gprc5b |
G |
A |
7: 118,583,302 (GRCm39) |
T189M |
possibly damaging |
Het |
| Gucy2g |
C |
T |
19: 55,229,379 (GRCm39) |
C97Y |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,261 (GRCm39) |
K225M |
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,260 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
G |
8: 3,252,986 (GRCm39) |
I391T |
probably damaging |
Het |
| Lce1e |
T |
A |
3: 92,615,056 (GRCm39) |
H97L |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,650,537 (GRCm39) |
R399G |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,872,939 (GRCm39) |
S1951I |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,159,686 (GRCm39) |
P648S |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,638,279 (GRCm39) |
F410L |
probably benign |
Het |
| Nr2e1 |
T |
C |
10: 42,444,441 (GRCm39) |
R223G |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,727 (GRCm39) |
S9P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,192,566 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
T |
C |
1: 74,780,334 (GRCm39) |
I444V |
probably benign |
Het |
| Rsph10b |
T |
G |
5: 143,916,710 (GRCm39) |
V310G |
possibly damaging |
Het |
| Tmem225 |
T |
C |
9: 40,061,097 (GRCm39) |
Y135H |
probably damaging |
Het |
| Tox2 |
G |
A |
2: 163,046,550 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Wfikkn2 |
G |
A |
11: 94,129,085 (GRCm39) |
T352I |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATCGGGCTGTGATGATGC -3'
(R):5'- AGTGGGCTAATCTAACTTTCCC -3'
Sequencing Primer
(F):5'- ATGCTGTTCTGGTTAGGTGAGCC -3'
(R):5'- CCTAATACATACAAGGTGACCAGGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation