Incidental Mutation 'R8520:Otud4'
| ID |
658596 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
067947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R8520 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80385896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 256
(N256K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
| AlphaFold |
B2RRE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173078
AA Change: N256K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: N256K
| 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 damaging
Transcript: ENSMUST00000173286
AA Change: N256K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: N256K
| 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 |
0.6676 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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 |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,423 (GRCm39) |
F136L |
possibly damaging |
Het |
| A430033K04Rik |
T |
A |
5: 138,644,968 (GRCm39) |
N284K |
possibly damaging |
Het |
| Abcb1a |
T |
C |
5: 8,735,346 (GRCm39) |
I151T |
possibly damaging |
Het |
| Adam28 |
C |
T |
14: 68,879,532 (GRCm39) |
G172D |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,502,041 (GRCm39) |
V191A |
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,225,359 (GRCm39) |
L911P |
probably damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,076 (GRCm39) |
S315P |
probably damaging |
Het |
| Cubn |
A |
G |
2: 13,313,331 (GRCm39) |
|
probably null |
Het |
| Dlec1 |
T |
C |
9: 118,941,277 (GRCm39) |
S276P |
probably benign |
Het |
| Dnah14 |
T |
A |
1: 181,481,203 (GRCm39) |
I1564N |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,712,508 (GRCm39) |
G171R |
probably damaging |
Het |
| Dusp13b |
C |
A |
14: 21,793,538 (GRCm39) |
G208* |
probably null |
Het |
| Ebf3 |
A |
C |
7: 136,802,853 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,171,270 (GRCm39) |
|
probably null |
Het |
| Fbxo27 |
A |
G |
7: 28,392,767 (GRCm39) |
D16G |
probably benign |
Het |
| G6pc3 |
A |
G |
11: 102,083,934 (GRCm39) |
S187G |
probably benign |
Het |
| Gucy2d |
G |
A |
7: 98,121,513 (GRCm39) |
V995I |
probably null |
Het |
| Hmcn2 |
C |
A |
2: 31,244,726 (GRCm39) |
P728T |
probably damaging |
Het |
| Il1r2 |
T |
C |
1: 40,144,499 (GRCm39) |
L62P |
probably damaging |
Het |
| Ints7 |
T |
C |
1: 191,314,603 (GRCm39) |
S63P |
probably damaging |
Het |
| Lyset |
T |
A |
12: 102,710,431 (GRCm39) |
|
probably null |
Het |
| Mcf2l |
C |
A |
8: 12,930,089 (GRCm39) |
D36E |
probably benign |
Het |
| Mfsd13b |
T |
G |
7: 120,590,586 (GRCm39) |
I109S |
probably benign |
Het |
| Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Mydgf |
C |
A |
17: 56,490,734 (GRCm39) |
|
probably null |
Het |
| Nanog |
A |
T |
6: 122,690,475 (GRCm39) |
L268F |
possibly damaging |
Het |
| Or12j5 |
T |
A |
7: 140,084,315 (GRCm39) |
D19V |
probably benign |
Het |
| Or14a259 |
A |
T |
7: 86,013,471 (GRCm39) |
C25S |
probably benign |
Het |
| P2rx1 |
A |
T |
11: 72,899,779 (GRCm39) |
D128V |
probably benign |
Het |
| Pappa |
G |
A |
4: 65,254,001 (GRCm39) |
V1552I |
probably benign |
Het |
| Pax8 |
A |
T |
2: 24,333,034 (GRCm39) |
F103I |
probably damaging |
Het |
| Ptk2b |
T |
A |
14: 66,412,204 (GRCm39) |
S396C |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,169 (GRCm39) |
Y276H |
probably damaging |
Het |
| Sec11c |
A |
T |
18: 65,947,911 (GRCm39) |
I93L |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,910 (GRCm39) |
N217K |
probably benign |
Het |
| Slc2a13 |
T |
A |
15: 91,457,105 (GRCm39) |
T66S |
probably damaging |
Het |
| Slc4a3 |
T |
C |
1: 75,526,506 (GRCm39) |
M9T |
probably benign |
Het |
| Sord |
G |
A |
2: 122,087,423 (GRCm39) |
V176I |
possibly damaging |
Het |
| Thbs4 |
G |
A |
13: 92,890,792 (GRCm39) |
Q892* |
probably null |
Het |
| Thsd7b |
T |
A |
1: 129,849,157 (GRCm39) |
D956E |
probably benign |
Het |
| Topbp1 |
T |
A |
9: 103,186,176 (GRCm39) |
|
probably null |
Het |
| Tst |
T |
C |
15: 78,289,453 (GRCm39) |
E194G |
probably damaging |
Het |
| Ttk |
T |
A |
9: 83,739,380 (GRCm39) |
S484T |
possibly damaging |
Het |
| U2surp |
A |
G |
9: 95,384,607 (GRCm39) |
S26P |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,388,714 (GRCm39) |
A500T |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,545,930 (GRCm39) |
Y1669* |
probably null |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,615 (GRCm39) |
Q656L |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 64,120,231 (GRCm39) |
N1424S |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
| Zfp984 |
T |
A |
4: 147,840,668 (GRCm39) |
Y61F |
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 |
|
|
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 |
|
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 |
80,391,656 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1177:Otud4
|
UTSW |
8 |
80,370,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Otud4
|
UTSW |
8 |
80,370,440 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTGCTTTGCTAGTAAGAAACTG -3'
(R):5'- TTCATACTGTAAGCCAGCAGC -3'
Sequencing Primer
(F):5'- AGAAACTGATTTGCTGCTTCCTG -3'
(R):5'- CATACTGTAAGCCAGCAGCAATGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation