Incidental Mutation 'R5738:Otud4'
| ID |
444625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
043350-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R5738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80400090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 935
(S935P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
| AlphaFold |
B2RRE7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172614
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173078
AA Change: S935P
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: S935P
| 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 |
probably benign
Transcript: ENSMUST00000173286
AA Change: S934P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: S934P
| 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: ENSMUST00000174485
|
| Meta Mutation Damage Score |
0.0620 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,571,917 (GRCm39) |
D4826V |
probably damaging |
Het |
| Acoxl |
G |
A |
2: 127,719,686 (GRCm39) |
C149Y |
probably benign |
Het |
| Adamts3 |
G |
T |
5: 89,856,527 (GRCm39) |
H349N |
probably damaging |
Het |
| Ap2b1 |
A |
G |
11: 83,227,256 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
T |
C |
8: 23,293,877 (GRCm39) |
S58G |
possibly damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,799,798 (GRCm39) |
W213R |
probably benign |
Het |
| Cacna1h |
T |
G |
17: 25,606,023 (GRCm39) |
D1092A |
probably damaging |
Het |
| Cbfb |
A |
C |
8: 105,929,193 (GRCm39) |
Q170P |
probably damaging |
Het |
| Ccdc73 |
A |
C |
2: 104,761,331 (GRCm39) |
K110N |
possibly damaging |
Het |
| Cep350 |
C |
A |
1: 155,741,824 (GRCm39) |
R2149L |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,272,777 (GRCm39) |
T525A |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fbxl5 |
A |
G |
5: 43,920,170 (GRCm39) |
I251T |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,030 (GRCm39) |
K67E |
possibly damaging |
Het |
| Glmp |
T |
A |
3: 88,233,445 (GRCm39) |
N133K |
probably benign |
Het |
| Gpr179 |
T |
C |
11: 97,242,232 (GRCm39) |
N204S |
probably damaging |
Het |
| Gtf2ird1 |
C |
T |
5: 134,412,672 (GRCm39) |
R613Q |
probably damaging |
Het |
| Hepacam |
A |
G |
9: 37,294,721 (GRCm39) |
D285G |
possibly damaging |
Het |
| Hipk4 |
G |
A |
7: 27,227,841 (GRCm39) |
V196M |
probably damaging |
Het |
| Hlx |
A |
T |
1: 184,463,754 (GRCm39) |
|
probably null |
Het |
| Igf2r |
A |
T |
17: 12,936,254 (GRCm39) |
D597E |
probably benign |
Het |
| Ighm |
T |
C |
12: 113,385,115 (GRCm39) |
T282A |
unknown |
Het |
| Igsf9b |
T |
C |
9: 27,239,826 (GRCm39) |
C624R |
probably damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,864 (GRCm39) |
V800A |
probably damaging |
Het |
| Lyn |
A |
T |
4: 3,782,987 (GRCm39) |
I386F |
probably damaging |
Het |
| Melk |
A |
G |
4: 44,310,333 (GRCm39) |
D102G |
probably damaging |
Het |
| Mettl1 |
G |
T |
10: 126,877,863 (GRCm39) |
E4* |
probably null |
Het |
| Mybl2 |
C |
T |
2: 162,910,203 (GRCm39) |
Q210* |
probably null |
Het |
| Naga |
C |
T |
15: 82,219,054 (GRCm39) |
W231* |
probably null |
Het |
| Or2y3 |
T |
C |
17: 38,393,347 (GRCm39) |
Y174C |
probably damaging |
Het |
| Or4k2 |
C |
T |
14: 50,424,105 (GRCm39) |
V190I |
probably benign |
Het |
| Or7g16 |
T |
C |
9: 18,727,125 (GRCm39) |
N155S |
possibly damaging |
Het |
| P2rx7 |
C |
T |
5: 122,790,852 (GRCm39) |
T63I |
probably damaging |
Het |
| Pga5 |
A |
T |
19: 10,647,024 (GRCm39) |
N260K |
probably benign |
Het |
| Phka2 |
ACC |
AC |
X: 159,342,862 (GRCm39) |
|
probably null |
Het |
| Plch1 |
T |
A |
3: 63,681,076 (GRCm39) |
R184W |
probably damaging |
Het |
| Ppm1b |
T |
C |
17: 85,301,374 (GRCm39) |
F85L |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,819,288 (GRCm39) |
F1094I |
probably benign |
Het |
| Ralgds |
G |
A |
2: 28,432,538 (GRCm39) |
|
probably benign |
Het |
| Rgs17 |
A |
C |
10: 5,783,140 (GRCm39) |
V149G |
probably damaging |
Het |
| Rnf168 |
A |
G |
16: 32,101,192 (GRCm39) |
E124G |
probably damaging |
Het |
| Sav1 |
T |
C |
12: 70,022,817 (GRCm39) |
E245G |
possibly damaging |
Het |
| Slc25a19 |
T |
C |
11: 115,515,060 (GRCm39) |
I33V |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,095,941 (GRCm39) |
I318V |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,754,707 (GRCm39) |
L140P |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,997,655 (GRCm39) |
I1071V |
probably benign |
Het |
| Tecta |
G |
T |
9: 42,284,474 (GRCm39) |
N870K |
possibly damaging |
Het |
| Tmem230 |
G |
A |
2: 132,086,048 (GRCm39) |
P38L |
possibly damaging |
Het |
| Trpa1 |
G |
T |
1: 14,946,174 (GRCm39) |
H986N |
probably damaging |
Het |
| Wdr41 |
A |
T |
13: 95,114,996 (GRCm39) |
I24L |
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 |
|
|
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 |
|
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'- CGTAGAAAATCCTGTAATGAGGC -3'
(R):5'- CACATCAGCAGCAGTCTTGG -3'
Sequencing Primer
(F):5'- TGAGGCAAAATATTGTCCTGCCC -3'
(R):5'- CAGCAGCAGTCTTGGGATCTTTTAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation