Incidental Mutation 'R5886:Otud4'
| ID |
456093 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
044088-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R5886 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 80399436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 717
(Y717N)
|
| 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 damaging
Transcript: ENSMUST00000173078
AA Change: Y717N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: Y717N
| 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: Y716N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: Y716N
| 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 |
0.0825 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
| Validation Efficiency |
96% (78/81) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap1 |
A |
G |
11: 69,775,162 (GRCm39) |
V367A |
probably benign |
Het |
| Adam26b |
T |
C |
8: 43,973,310 (GRCm39) |
E564G |
possibly damaging |
Het |
| Akap1 |
A |
G |
11: 88,725,486 (GRCm39) |
|
probably null |
Het |
| Akap5 |
T |
A |
12: 76,374,619 (GRCm39) |
V10E |
possibly damaging |
Het |
| Atad2 |
A |
T |
15: 57,961,910 (GRCm39) |
L887* |
probably null |
Het |
| Brd10 |
T |
C |
19: 29,696,677 (GRCm39) |
I939V |
probably benign |
Het |
| C1qbp |
A |
G |
11: 70,873,008 (GRCm39) |
V122A |
probably benign |
Het |
| C1qtnf7 |
G |
A |
5: 43,772,998 (GRCm39) |
G92D |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,249,651 (GRCm39) |
I219T |
probably damaging |
Het |
| Capn12 |
A |
G |
7: 28,587,030 (GRCm39) |
N333S |
probably benign |
Het |
| Ccdc154 |
C |
T |
17: 25,390,792 (GRCm39) |
T644I |
probably benign |
Het |
| Cd200r1 |
T |
C |
16: 44,610,566 (GRCm39) |
S225P |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,499,402 (GRCm39) |
|
probably null |
Het |
| Coq4 |
A |
T |
2: 29,680,626 (GRCm39) |
|
probably benign |
Het |
| Cubn |
A |
T |
2: 13,324,834 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
A |
T |
17: 32,743,013 (GRCm39) |
S229C |
possibly damaging |
Het |
| Cysltr2 |
T |
C |
14: 73,266,931 (GRCm39) |
K260E |
probably benign |
Het |
| D930007J09Rik |
C |
A |
13: 32,986,819 (GRCm39) |
A200E |
probably benign |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Duoxa1 |
A |
T |
2: 122,134,291 (GRCm39) |
S276T |
possibly damaging |
Het |
| Efcab15 |
A |
G |
11: 103,098,947 (GRCm39) |
|
probably null |
Het |
| Efhb |
T |
C |
17: 53,758,582 (GRCm39) |
I351M |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,480,718 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
T |
8: 45,486,432 (GRCm39) |
T3329S |
probably damaging |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
T |
A |
1: 59,597,409 (GRCm39) |
|
probably benign |
Het |
| Gpr156 |
T |
A |
16: 37,799,375 (GRCm39) |
L124Q |
probably damaging |
Het |
| Hars2 |
T |
A |
18: 36,923,150 (GRCm39) |
|
probably benign |
Het |
| Hcrt |
G |
A |
11: 100,652,759 (GRCm39) |
A85V |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,310,088 (GRCm39) |
D776G |
probably damaging |
Het |
| Hmgcr |
A |
T |
13: 96,796,691 (GRCm39) |
S200T |
probably damaging |
Het |
| Krt40 |
C |
T |
11: 99,430,907 (GRCm39) |
A201T |
probably benign |
Het |
| Lca5 |
G |
A |
9: 83,281,734 (GRCm39) |
A350V |
probably benign |
Het |
| Lrig2 |
T |
A |
3: 104,370,014 (GRCm39) |
M515L |
probably benign |
Het |
| Mbd5 |
A |
G |
2: 49,162,464 (GRCm39) |
D90G |
probably damaging |
Het |
| Mfsd4a |
C |
T |
1: 131,995,465 (GRCm39) |
V56I |
probably damaging |
Het |
| Mpi |
A |
G |
9: 57,455,745 (GRCm39) |
|
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,478,296 (GRCm39) |
D935E |
possibly damaging |
Het |
| Mtg1 |
G |
T |
7: 139,729,778 (GRCm39) |
|
probably null |
Het |
| Nanos1 |
T |
A |
19: 60,745,268 (GRCm39) |
C189S |
probably damaging |
Het |
| Naprt |
A |
C |
15: 75,763,324 (GRCm39) |
|
probably null |
Het |
| Nubpl |
T |
A |
12: 52,228,092 (GRCm39) |
|
probably null |
Het |
| Or10ad1b |
T |
C |
15: 98,124,672 (GRCm39) |
T285A |
possibly damaging |
Het |
| Or10d4 |
G |
T |
9: 39,581,252 (GRCm39) |
V300L |
probably benign |
Het |
| Or8g23 |
T |
A |
9: 38,971,678 (GRCm39) |
T95S |
probably benign |
Het |
| Or9g20 |
A |
G |
2: 85,630,147 (GRCm39) |
S156P |
probably damaging |
Het |
| Pakap |
T |
A |
4: 57,856,295 (GRCm39) |
D582E |
probably damaging |
Het |
| Pnpla1 |
T |
C |
17: 29,095,837 (GRCm39) |
F86S |
possibly damaging |
Het |
| Prlhr |
C |
T |
19: 60,456,014 (GRCm39) |
W184* |
probably null |
Het |
| Rtp3 |
A |
G |
9: 110,816,204 (GRCm39) |
S116P |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,886,984 (GRCm39) |
I345T |
possibly damaging |
Het |
| Skor2 |
T |
C |
18: 76,947,124 (GRCm39) |
L282P |
unknown |
Het |
| Slc24a4 |
T |
C |
12: 102,226,674 (GRCm39) |
V468A |
probably damaging |
Het |
| Slfn8 |
C |
T |
11: 82,894,160 (GRCm39) |
M826I |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,330,850 (GRCm39) |
D378G |
probably benign |
Het |
| Thbs3 |
C |
A |
3: 89,127,470 (GRCm39) |
D370E |
probably damaging |
Het |
| Tk1 |
CC |
GA |
11: 117,707,948 (GRCm39) |
|
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,572 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,007,737 (GRCm39) |
Y126C |
probably damaging |
Het |
| Trim35 |
C |
G |
14: 66,541,502 (GRCm39) |
L209V |
possibly damaging |
Het |
| Trim35 |
T |
C |
14: 66,541,503 (GRCm39) |
L209P |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,708,179 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,502 (GRCm39) |
V1583A |
probably damaging |
Het |
| Tuba5-ps |
A |
G |
1: 134,447,937 (GRCm39) |
|
noncoding transcript |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,450 (GRCm39) |
N1166K |
possibly damaging |
Het |
| Usp54 |
C |
T |
14: 20,611,910 (GRCm39) |
D969N |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,221,171 (GRCm39) |
S612R |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,641,926 (GRCm39) |
T2234A |
probably benign |
Het |
| Vps39 |
A |
G |
2: 120,152,053 (GRCm39) |
|
probably benign |
Het |
| Zdhhc3 |
A |
T |
9: 122,920,146 (GRCm39) |
C120S |
probably benign |
Het |
| Zfp37 |
A |
G |
4: 62,109,471 (GRCm39) |
F531S |
probably 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 |
|
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'- CATGTTGGTCCCCACTGTGATC -3'
(R):5'- CACCTGAGATGGAGGGATAACC -3'
Sequencing Primer
(F):5'- GGTCCCCACTGTGATCCTGTAC -3'
(R):5'- TGTGGCATCTGACCATTAACACTG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation