Incidental Mutation 'R5741:Otud7b'
| ID |
444777 |
| 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 # |
R5741 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96011839-96068446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96051615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 189
(T189I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035519]
[ENSMUST00000090785]
[ENSMUST00000098849]
[ENSMUST00000132980]
[ENSMUST00000138206]
|
| AlphaFold |
B2RUR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035519
AA Change: T189I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: T189I
| 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: T189I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: T189I
| 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: T189I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: T189I
| 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 benign
Transcript: ENSMUST00000132980
|
| SMART Domains |
Protein: ENSMUSP00000115699
Gene: ENSMUSG00000038495
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
6 |
44 |
8.1e-8 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000138206
AA Change: T189I
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121847
Gene: ENSMUSG00000038495
AA Change: T189I
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
T |
G |
11: 106,919,315 (GRCm39) |
F220C |
probably damaging |
Het |
| Acox3 |
C |
T |
5: 35,765,668 (GRCm39) |
H140Y |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,488,618 (GRCm39) |
I938K |
probably benign |
Het |
| Ap3m1 |
A |
C |
14: 21,095,788 (GRCm39) |
I14S |
possibly damaging |
Het |
| Arg1 |
T |
C |
10: 24,793,897 (GRCm39) |
T127A |
probably benign |
Het |
| Asah2 |
A |
G |
19: 31,986,015 (GRCm39) |
Y552H |
probably damaging |
Het |
| Cfap97d2 |
A |
T |
8: 13,784,835 (GRCm39) |
Q32L |
possibly damaging |
Het |
| Chst12 |
A |
G |
5: 140,509,688 (GRCm39) |
N105S |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,123,620 (GRCm39) |
V458I |
probably benign |
Het |
| Cyld |
T |
G |
8: 89,471,474 (GRCm39) |
I786S |
probably damaging |
Het |
| Cyp2j8 |
C |
T |
4: 96,332,880 (GRCm39) |
V489I |
probably benign |
Het |
| Dlgap4 |
T |
C |
2: 156,552,968 (GRCm39) |
Y462H |
probably damaging |
Het |
| Dnah5 |
C |
A |
15: 28,246,513 (GRCm39) |
A617D |
probably benign |
Het |
| Erc2 |
T |
A |
14: 28,024,826 (GRCm39) |
|
probably null |
Het |
| Fancm |
A |
G |
12: 65,148,389 (GRCm39) |
N668S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,938,625 (GRCm39) |
I636V |
probably benign |
Het |
| Gtf2h2 |
A |
T |
13: 100,617,066 (GRCm39) |
C247S |
probably benign |
Het |
| Hyal5 |
T |
A |
6: 24,876,494 (GRCm39) |
H122Q |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,257,574 (GRCm39) |
R258K |
probably damaging |
Het |
| Kir3dl1 |
G |
A |
X: 135,427,231 (GRCm39) |
D56N |
probably damaging |
Het |
| Lrguk |
T |
A |
6: 34,025,802 (GRCm39) |
D199E |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,808,615 (GRCm39) |
D95G |
probably benign |
Het |
| Map2k1 |
A |
T |
9: 64,121,883 (GRCm39) |
L30Q |
possibly damaging |
Het |
| Nell1 |
G |
A |
7: 50,210,638 (GRCm39) |
|
probably null |
Het |
| Nfatc3 |
T |
A |
8: 106,805,698 (GRCm39) |
I181N |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,354,133 (GRCm39) |
K1668R |
possibly damaging |
Het |
| Or5b113 |
A |
G |
19: 13,342,847 (GRCm39) |
N285S |
probably damaging |
Het |
| Or7e170 |
A |
G |
9: 19,794,857 (GRCm39) |
V248A |
possibly damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,899 (GRCm39) |
L163* |
probably null |
Het |
| Pkia |
A |
T |
3: 7,507,105 (GRCm39) |
E62D |
probably benign |
Het |
| Plcb3 |
G |
A |
19: 6,931,790 (GRCm39) |
Q1154* |
probably null |
Het |
| Pole4 |
T |
C |
6: 82,628,447 (GRCm39) |
E105G |
probably damaging |
Het |
| Ppp1r3a |
A |
G |
6: 14,719,882 (GRCm39) |
V344A |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,645,548 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Rapgef5 |
A |
G |
12: 117,719,764 (GRCm39) |
D564G |
probably damaging |
Het |
| Samhd1 |
C |
T |
2: 156,954,751 (GRCm39) |
R387H |
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,183,849 (GRCm39) |
K65E |
possibly damaging |
Het |
| Spata31d1d |
A |
T |
13: 59,876,500 (GRCm39) |
V345D |
possibly damaging |
Het |
| Spin1 |
G |
A |
13: 51,303,171 (GRCm39) |
V255I |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,828,559 (GRCm39) |
V197A |
probably benign |
Het |
| Tmigd1 |
T |
C |
11: 76,797,916 (GRCm39) |
V86A |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,542,417 (GRCm39) |
D31777G |
probably damaging |
Het |
| Tymp |
T |
A |
15: 89,260,639 (GRCm39) |
M60L |
probably benign |
Het |
| Ugdh |
T |
C |
5: 65,584,866 (GRCm39) |
T19A |
probably damaging |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,731 (GRCm39) |
C215F |
probably benign |
Het |
| Wnt5b |
T |
C |
6: 119,410,690 (GRCm39) |
D250G |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,927,604 (GRCm39) |
C1463S |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,486,945 (GRCm39) |
I540N |
possibly damaging |
Het |
| Zmynd8 |
T |
C |
2: 165,681,937 (GRCm39) |
D189G |
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 |
|
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'- AGTCATGCTCAACAGATTCTACC -3'
(R):5'- AGGCAAGATTCTCCCATTCC -3'
Sequencing Primer
(F):5'- TATCAGGAGTTCAAGACCAGCCTTG -3'
(R):5'- CCCCTAAGTCTTGGCATGAAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation