Incidental Mutation 'R6773:Otud4'
ID |
532247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otud4
|
Ensembl Gene |
ENSMUSG00000036990 |
Gene Name |
OTU domain containing 4 |
Synonyms |
4930431L18Rik, D8Ertd69e |
MMRRC Submission |
044889-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R6773 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80370435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 71
(Y71C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
AlphaFold |
B2RRE7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173078
AA Change: Y71C
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133939 Gene: ENSMUSG00000036990 AA Change: Y71C
Domain | Start | End | E-Value | Type |
Pfam:OTU
|
40 |
154 |
3.4e-17 |
PFAM |
low complexity region
|
189 |
213 |
N/A |
INTRINSIC |
Blast:TUDOR
|
280 |
335 |
2e-7 |
BLAST |
low complexity region
|
392 |
405 |
N/A |
INTRINSIC |
low complexity region
|
473 |
486 |
N/A |
INTRINSIC |
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
low complexity region
|
1014 |
1025 |
N/A |
INTRINSIC |
low complexity region
|
1082 |
1104 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173286
AA Change: Y71C
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000134097 Gene: ENSMUSG00000036990 AA Change: Y71C
Domain | Start | End | E-Value | Type |
Pfam:OTU
|
40 |
149 |
5.3e-21 |
PFAM |
low complexity region
|
189 |
213 |
N/A |
INTRINSIC |
Blast:TUDOR
|
280 |
334 |
9e-9 |
BLAST |
low complexity region
|
391 |
404 |
N/A |
INTRINSIC |
low complexity region
|
472 |
485 |
N/A |
INTRINSIC |
low complexity region
|
542 |
554 |
N/A |
INTRINSIC |
low complexity region
|
1013 |
1024 |
N/A |
INTRINSIC |
low complexity region
|
1081 |
1103 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.8179 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
Validation Efficiency |
98% (44/45) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alternatively spliced transcript variants have been found for this gene. The smaller protein isoform encoded by the shorter transcript variant is found only in HIV-1 infected cells. [provided by RefSeq, Jul 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adrm1b |
T |
A |
3: 92,336,556 (GRCm39) |
I49F |
probably damaging |
Het |
Aqp6 |
A |
G |
15: 99,500,558 (GRCm39) |
D161G |
probably damaging |
Het |
Aqr |
A |
T |
2: 113,979,477 (GRCm39) |
N319K |
possibly damaging |
Het |
Asns |
C |
A |
6: 7,676,284 (GRCm39) |
R424L |
probably benign |
Het |
Atp4a |
T |
C |
7: 30,414,802 (GRCm39) |
V197A |
probably damaging |
Het |
Ccdc70 |
A |
G |
8: 22,463,321 (GRCm39) |
E37G |
probably damaging |
Het |
Ccdc88b |
A |
T |
19: 6,826,409 (GRCm39) |
V1102E |
possibly damaging |
Het |
Cd82 |
G |
A |
2: 93,252,221 (GRCm39) |
A130V |
probably benign |
Het |
Cfap46 |
T |
C |
7: 139,222,477 (GRCm39) |
|
probably benign |
Het |
Cnot6l |
A |
C |
5: 96,242,158 (GRCm39) |
C188W |
probably damaging |
Het |
Cxcr6 |
A |
T |
9: 123,639,355 (GRCm39) |
T119S |
possibly damaging |
Het |
Dok7 |
G |
A |
5: 35,234,528 (GRCm39) |
R193H |
probably damaging |
Het |
Dpy19l1 |
A |
T |
9: 24,352,068 (GRCm39) |
S386T |
probably damaging |
Het |
Frem3 |
A |
C |
8: 81,338,444 (GRCm39) |
T246P |
probably damaging |
Het |
Gm29666 |
A |
T |
15: 84,798,360 (GRCm39) |
I67K |
unknown |
Het |
Gpr153 |
T |
A |
4: 152,363,757 (GRCm39) |
V59E |
probably damaging |
Het |
Inpp4b |
G |
A |
8: 82,583,249 (GRCm39) |
|
probably benign |
Het |
Kcnj13 |
T |
C |
1: 87,314,482 (GRCm39) |
I247V |
possibly damaging |
Het |
Klri1 |
C |
T |
6: 129,680,510 (GRCm39) |
V91M |
possibly damaging |
Het |
M1ap |
T |
A |
6: 82,945,061 (GRCm39) |
D118E |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,863,993 (GRCm39) |
V406A |
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,300,622 (GRCm39) |
V369A |
probably benign |
Het |
Or5ac24 |
A |
T |
16: 59,165,579 (GRCm39) |
L162I |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,790,461 (GRCm39) |
N1044D |
probably benign |
Het |
Ppp4r3b |
T |
A |
11: 29,155,639 (GRCm39) |
M114K |
probably benign |
Het |
Prune1 |
T |
C |
3: 95,171,082 (GRCm39) |
D114G |
probably damaging |
Het |
Rad54l2 |
A |
T |
9: 106,570,516 (GRCm39) |
V1268D |
probably benign |
Het |
Rbbp6 |
A |
G |
7: 122,598,578 (GRCm39) |
|
probably benign |
Het |
Rimbp3 |
A |
T |
16: 17,026,879 (GRCm39) |
E101V |
probably damaging |
Het |
Rit1 |
C |
T |
3: 88,633,676 (GRCm39) |
|
probably null |
Het |
Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
Shisa9 |
A |
G |
16: 11,802,892 (GRCm39) |
T150A |
probably damaging |
Het |
Smpdl3a |
T |
C |
10: 57,678,533 (GRCm39) |
V112A |
probably damaging |
Het |
Strada |
T |
A |
11: 106,055,733 (GRCm39) |
I305F |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,049,146 (GRCm39) |
E3454K |
possibly damaging |
Het |
Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
Tmem259 |
T |
C |
10: 79,813,422 (GRCm39) |
D519G |
possibly damaging |
Het |
Tns1 |
T |
C |
1: 73,958,866 (GRCm39) |
Q445R |
probably damaging |
Het |
Topbp1 |
A |
G |
9: 103,220,891 (GRCm39) |
D20G |
possibly damaging |
Het |
Trbv5 |
G |
T |
6: 41,039,551 (GRCm39) |
W52L |
probably damaging |
Het |
Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
Tulp1 |
T |
C |
17: 28,581,876 (GRCm39) |
K193E |
probably damaging |
Het |
Unc80 |
T |
C |
1: 66,690,702 (GRCm39) |
V2459A |
probably benign |
Het |
Vps50 |
T |
C |
6: 3,592,560 (GRCm39) |
V731A |
probably benign |
Het |
|
Other mutations in Otud4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Otud4
|
APN |
8 |
80,399,510 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01353:Otud4
|
APN |
8 |
80,391,650 (GRCm39) |
missense |
probably benign |
|
IGL01371:Otud4
|
APN |
8 |
80,400,390 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01782:Otud4
|
APN |
8 |
80,399,640 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01912:Otud4
|
APN |
8 |
80,400,466 (GRCm39) |
missense |
probably benign |
|
IGL02294:Otud4
|
APN |
8 |
80,391,606 (GRCm39) |
splice site |
probably benign |
|
IGL02830:Otud4
|
APN |
8 |
80,399,930 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03063:Otud4
|
APN |
8 |
80,390,419 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03077:Otud4
|
APN |
8 |
80,400,087 (GRCm39) |
missense |
probably damaging |
0.97 |
R0437:Otud4
|
UTSW |
8 |
80,396,626 (GRCm39) |
missense |
probably benign |
0.02 |
R1024:Otud4
|
UTSW |
8 |
80,390,722 (GRCm39) |
missense |
probably benign |
0.01 |
R1118:Otud4
|
UTSW |
8 |
80,379,980 (GRCm39) |
splice site |
probably benign |
|
R1296:Otud4
|
UTSW |
8 |
80,400,603 (GRCm39) |
missense |
unknown |
|
R1321:Otud4
|
UTSW |
8 |
80,396,579 (GRCm39) |
missense |
probably benign |
0.03 |
R1674:Otud4
|
UTSW |
8 |
80,399,776 (GRCm39) |
missense |
probably benign |
0.12 |
R1736:Otud4
|
UTSW |
8 |
80,378,294 (GRCm39) |
splice site |
probably benign |
|
R1815:Otud4
|
UTSW |
8 |
80,366,618 (GRCm39) |
nonsense |
probably null |
|
R1950:Otud4
|
UTSW |
8 |
80,372,961 (GRCm39) |
missense |
probably damaging |
0.99 |
R1985:Otud4
|
UTSW |
8 |
80,366,641 (GRCm39) |
missense |
probably damaging |
1.00 |
R2173:Otud4
|
UTSW |
8 |
80,395,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R2869:Otud4
|
UTSW |
8 |
80,387,702 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2869:Otud4
|
UTSW |
8 |
80,387,702 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2870:Otud4
|
UTSW |
8 |
80,387,702 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2870:Otud4
|
UTSW |
8 |
80,387,702 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2872:Otud4
|
UTSW |
8 |
80,387,702 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2872:Otud4
|
UTSW |
8 |
80,387,702 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2907:Otud4
|
UTSW |
8 |
80,399,697 (GRCm39) |
missense |
probably benign |
0.02 |
R3545:Otud4
|
UTSW |
8 |
80,391,684 (GRCm39) |
missense |
probably damaging |
1.00 |
R4628:Otud4
|
UTSW |
8 |
80,366,597 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4790:Otud4
|
UTSW |
8 |
80,393,402 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4989:Otud4
|
UTSW |
8 |
80,382,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5133:Otud4
|
UTSW |
8 |
80,382,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5134:Otud4
|
UTSW |
8 |
80,382,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R5294:Otud4
|
UTSW |
8 |
80,399,521 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5410:Otud4
|
UTSW |
8 |
80,399,626 (GRCm39) |
missense |
probably benign |
0.04 |
R5454:Otud4
|
UTSW |
8 |
80,377,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5579:Otud4
|
UTSW |
8 |
80,390,737 (GRCm39) |
missense |
probably benign |
|
R5738:Otud4
|
UTSW |
8 |
80,400,090 (GRCm39) |
missense |
probably benign |
0.02 |
R5886:Otud4
|
UTSW |
8 |
80,399,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R6062:Otud4
|
UTSW |
8 |
80,400,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R6364:Otud4
|
UTSW |
8 |
80,372,970 (GRCm39) |
missense |
probably damaging |
0.99 |
R6427:Otud4
|
UTSW |
8 |
80,395,126 (GRCm39) |
missense |
probably benign |
0.00 |
R6450:Otud4
|
UTSW |
8 |
80,399,626 (GRCm39) |
missense |
probably benign |
0.04 |
R6744:Otud4
|
UTSW |
8 |
80,400,407 (GRCm39) |
nonsense |
probably null |
|
R7046:Otud4
|
UTSW |
8 |
80,377,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7142:Otud4
|
UTSW |
8 |
80,399,391 (GRCm39) |
splice site |
probably null |
|
R7420:Otud4
|
UTSW |
8 |
80,390,737 (GRCm39) |
missense |
probably benign |
0.11 |
R7470:Otud4
|
UTSW |
8 |
80,399,989 (GRCm39) |
missense |
probably benign |
0.00 |
R7670:Otud4
|
UTSW |
8 |
80,382,493 (GRCm39) |
splice site |
probably null |
|
R7736:Otud4
|
UTSW |
8 |
80,382,394 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8229:Otud4
|
UTSW |
8 |
80,400,604 (GRCm39) |
missense |
unknown |
|
R8397:Otud4
|
UTSW |
8 |
80,395,927 (GRCm39) |
missense |
probably benign |
0.06 |
R8520:Otud4
|
UTSW |
8 |
80,385,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R9041:Otud4
|
UTSW |
8 |
80,400,441 (GRCm39) |
missense |
probably damaging |
0.98 |
R9291:Otud4
|
UTSW |
8 |
80,372,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R9495:Otud4
|
UTSW |
8 |
80,400,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R9502:Otud4
|
UTSW |
8 |
80,400,480 (GRCm39) |
missense |
probably benign |
0.01 |
X0024:Otud4
|
UTSW |
8 |
80,372,939 (GRCm39) |
missense |
probably benign |
0.01 |
Z1176:Otud4
|
UTSW |
8 |
80,385,558 (GRCm39) |
missense |
probably benign |
|
Z1177:Otud4
|
UTSW |
8 |
80,370,441 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Otud4
|
UTSW |
8 |
80,370,440 (GRCm39) |
nonsense |
probably null |
|
Z1177:Otud4
|
UTSW |
8 |
80,391,656 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGTCATAGTGCTCAGAGGAAG -3'
(R):5'- ACACACTCTAGCTGAGAAATTACTC -3'
Sequencing Primer
(F):5'- TCATAGTGCTCAGAGGAAGGGTTAG -3'
(R):5'- CTCTAGCTGAGAAATTACTCAATGAG -3'
|
Posted On |
2018-08-29 |