Incidental Mutation 'R7046:Otud4'
| ID |
547322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
045144-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R7046 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 80377671 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 111
(L111F)
|
| 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: L111F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: L111F
| 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: L111F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: L111F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173868
|
| Meta Mutation Damage Score |
0.0841 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
T |
C |
7: 45,772,364 (GRCm39) |
Y805C |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,512 (GRCm39) |
D173E |
probably benign |
Het |
| Cabp7 |
T |
A |
11: 4,688,886 (GRCm39) |
I195F |
probably damaging |
Het |
| Camsap1 |
T |
C |
2: 25,835,201 (GRCm39) |
N317S |
probably damaging |
Het |
| Ccdc127 |
T |
G |
13: 74,500,994 (GRCm39) |
L4V |
probably damaging |
Het |
| Ccdc7a |
T |
C |
8: 129,774,100 (GRCm39) |
E145G |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 19,013,287 (GRCm39) |
V629D |
probably damaging |
Het |
| Cdh23 |
A |
C |
10: 60,214,530 (GRCm39) |
L1497R |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,542,875 (GRCm39) |
K671R |
probably benign |
Het |
| Clca4b |
T |
C |
3: 144,621,367 (GRCm39) |
Y569C |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,786,696 (GRCm39) |
|
probably benign |
Het |
| Cyp51 |
T |
A |
5: 4,150,188 (GRCm39) |
E178D |
probably damaging |
Het |
| Defa30 |
T |
A |
8: 21,625,471 (GRCm39) |
N78K |
probably benign |
Het |
| Disp1 |
C |
A |
1: 182,869,030 (GRCm39) |
R1130L |
probably damaging |
Het |
| Dnah14 |
G |
T |
1: 181,450,568 (GRCm39) |
C727F |
probably benign |
Het |
| Egf |
A |
T |
3: 129,548,607 (GRCm39) |
W3R |
unknown |
Het |
| Egfem1 |
G |
A |
3: 29,136,364 (GRCm39) |
|
probably null |
Het |
| Epb41l1 |
G |
T |
2: 156,368,812 (GRCm39) |
V682L |
possibly damaging |
Het |
| Etv1 |
A |
G |
12: 38,834,369 (GRCm39) |
|
probably null |
Het |
| Faap100 |
A |
G |
11: 120,268,200 (GRCm39) |
F191S |
possibly damaging |
Het |
| Fmo1 |
T |
A |
1: 162,667,263 (GRCm39) |
D184V |
possibly damaging |
Het |
| Ghrl |
A |
G |
6: 113,696,344 (GRCm39) |
L16P |
probably damaging |
Het |
| Gria4 |
T |
A |
9: 4,420,278 (GRCm39) |
L861F |
probably damaging |
Het |
| Gsr |
T |
A |
8: 34,185,090 (GRCm39) |
M428K |
probably damaging |
Het |
| Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
| Kbtbd12 |
A |
G |
6: 88,595,497 (GRCm39) |
M111T |
possibly damaging |
Het |
| Krtap21-1 |
G |
T |
16: 89,200,623 (GRCm39) |
Y6* |
probably null |
Het |
| Lin9 |
A |
G |
1: 180,494,935 (GRCm39) |
D219G |
probably damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,076,739 (GRCm39) |
M1V |
probably null |
Het |
| Macc1 |
T |
G |
12: 119,410,773 (GRCm39) |
F514V |
probably benign |
Het |
| Madcam1 |
C |
T |
10: 79,504,139 (GRCm39) |
R242C |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,131,944 (GRCm39) |
S1037P |
probably benign |
Het |
| Micall2 |
C |
T |
5: 139,694,699 (GRCm39) |
|
probably benign |
Het |
| Mtr |
C |
A |
13: 12,205,095 (GRCm39) |
A1122S |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,226,456 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,929,662 (GRCm39) |
C529* |
probably null |
Het |
| Napsa |
T |
C |
7: 44,234,509 (GRCm39) |
V247A |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,135,338 (GRCm39) |
T309A |
probably damaging |
Het |
| Or1e26 |
A |
T |
11: 73,480,558 (GRCm39) |
I2K |
probably benign |
Het |
| Or1q1 |
T |
A |
2: 36,887,173 (GRCm39) |
V117E |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,691 (GRCm39) |
M71L |
probably benign |
Het |
| Osgepl1 |
A |
T |
1: 53,360,710 (GRCm39) |
I384F |
possibly damaging |
Het |
| Pds5b |
A |
G |
5: 150,673,385 (GRCm39) |
Y481C |
probably damaging |
Het |
| Pdzrn4 |
T |
A |
15: 92,668,303 (GRCm39) |
Y818* |
probably null |
Het |
| Pin1rt1 |
T |
C |
2: 104,544,767 (GRCm39) |
S122G |
probably benign |
Het |
| Pkdcc |
A |
T |
17: 83,531,687 (GRCm39) |
Y487F |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,493,440 (GRCm39) |
C392Y |
probably damaging |
Het |
| Psd4 |
T |
G |
2: 24,284,985 (GRCm39) |
M283R |
probably benign |
Het |
| Ralgds |
G |
T |
2: 28,430,741 (GRCm39) |
G68W |
probably damaging |
Het |
| Rmdn2 |
T |
A |
17: 79,928,808 (GRCm39) |
I20N |
probably damaging |
Het |
| Sestd1 |
A |
G |
2: 77,022,910 (GRCm39) |
V486A |
probably benign |
Het |
| Skic8 |
T |
A |
9: 54,626,539 (GRCm39) |
D275V |
probably damaging |
Het |
| Spmap2 |
G |
T |
10: 79,422,796 (GRCm39) |
D35E |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,533,748 (GRCm39) |
H958R |
possibly damaging |
Het |
| Taok3 |
C |
T |
5: 117,411,771 (GRCm39) |
R857C |
probably damaging |
Het |
| Tasor |
A |
T |
14: 27,194,392 (GRCm39) |
L1197F |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,832,137 (GRCm39) |
E1245G |
probably damaging |
Het |
| Usp19 |
C |
T |
9: 108,374,334 (GRCm39) |
H763Y |
possibly damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,310,651 (GRCm39) |
S285P |
probably damaging |
Het |
| Vmn1r45 |
T |
G |
6: 89,910,538 (GRCm39) |
Y144S |
probably benign |
Het |
| Vwa3b |
G |
A |
1: 37,212,959 (GRCm39) |
E152K |
probably benign |
Het |
| Xrcc5 |
G |
A |
1: 72,433,875 (GRCm39) |
M731I |
probably benign |
Het |
| Zfp619 |
G |
A |
7: 39,186,787 (GRCm39) |
S939N |
possibly damaging |
Het |
| Zfp874a |
C |
A |
13: 67,590,418 (GRCm39) |
C422F |
probably damaging |
Het |
| Zfp948 |
A |
G |
17: 21,808,719 (GRCm39) |
D637G |
possibly damaging |
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 |
|
|
R6773:Otud4
|
UTSW |
8 |
80,370,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- ACTAGTGGTATACTAATACAAAGGGTG -3'
(R):5'- CTAGCCATCAAATTCCAACTGATGC -3'
Sequencing Primer
(F):5'- ATCTGTGAGTTCAAGGCCAGC -3'
(R):5'- CAGACTAAAAACCTTAGGGAAAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation