Incidental Mutation 'PIT4434001:Otud7b'
| ID |
555049 |
| 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 # |
PIT4434001 (G1)
|
| Quality Score |
103.008 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96011839-96068446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96047776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 45
(R45H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035519]
[ENSMUST00000090785]
[ENSMUST00000098849]
[ENSMUST00000132980]
[ENSMUST00000138206]
|
| AlphaFold |
B2RUR8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035519
AA Change: R45H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046413
Gene: ENSMUSG00000038495
AA Change: R45H
| 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: R45H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088291
Gene: ENSMUSG00000038495
AA Change: R45H
| 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: R45H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096449
Gene: ENSMUSG00000038495
AA Change: R45H
| 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: R45H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000115699
Gene: ENSMUSG00000038495
AA Change: R45H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
6 |
44 |
8.1e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000138206
AA Change: R45H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121847
Gene: ENSMUSG00000038495
AA Change: R45H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UBA_4
|
6 |
44 |
2.7e-7 |
PFAM |
|
low complexity region
|
112 |
124 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
| Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
| Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,164,632 (GRCm39) |
V664A |
probably benign |
Het |
| Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
| Bmi1 |
C |
T |
2: 18,689,042 (GRCm39) |
T242M |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
| Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
| Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,068,276 (GRCm39) |
H864Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Grn |
C |
T |
11: 102,326,766 (GRCm39) |
H482Y |
possibly damaging |
Het |
| Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
| Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
| Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
| Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
| Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
| Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
| Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
| Rufy2 |
A |
T |
10: 62,826,845 (GRCm39) |
Q128L |
possibly damaging |
Het |
| Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
| Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
| Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
| Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
| Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
| Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
possibly 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACAAAGTTTCTACCATTGTGTGC -3'
(R):5'- TACTCCGCCTTAGTCCTCAGAG -3'
Sequencing Primer
(F):5'- TGAGTCTCAGGTAGCTCAGACTAGC -3'
(R):5'- GTCCTCAGAGCAATACCTTGAATG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation