Incidental Mutation 'R9041:Otud4'
| ID |
687728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
068868-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R9041 (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 80400441 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 1052
(S1052T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
| AlphaFold |
B2RRE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173078
AA Change: S1052T
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: S1052T
| 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: S1051T
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: S1051T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (60/60) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,062,054 (GRCm39) |
I168T |
probably benign |
Het |
| Acvr2b |
G |
T |
9: 119,257,052 (GRCm39) |
E94* |
probably null |
Het |
| Adcy8 |
A |
T |
15: 64,609,287 (GRCm39) |
I874N |
probably benign |
Het |
| Ahcyl |
T |
G |
16: 45,974,468 (GRCm39) |
D303A |
possibly damaging |
Het |
| Angptl1 |
G |
T |
1: 156,685,999 (GRCm39) |
D362Y |
probably damaging |
Het |
| Arc |
A |
G |
15: 74,543,896 (GRCm39) |
V109A |
probably damaging |
Het |
| Asphd2 |
T |
A |
5: 112,539,768 (GRCm39) |
T22S |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,771,030 (GRCm39) |
N321K |
probably benign |
Het |
| Carmil1 |
T |
C |
13: 24,282,793 (GRCm39) |
D547G |
possibly damaging |
Het |
| Cd38 |
G |
A |
5: 44,058,899 (GRCm39) |
|
probably null |
Het |
| Cd3g |
A |
G |
9: 44,884,818 (GRCm39) |
V142A |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,896,923 (GRCm39) |
I318N |
probably damaging |
Het |
| Cmah |
T |
C |
13: 24,641,004 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cplx4 |
T |
C |
18: 66,103,097 (GRCm39) |
M8V |
probably damaging |
Het |
| Dnajc19 |
T |
C |
3: 34,134,282 (GRCm39) |
K27R |
probably damaging |
Het |
| E2f3 |
C |
A |
13: 30,093,939 (GRCm39) |
D441Y |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,822,818 (GRCm39) |
K777R |
probably benign |
Het |
| Fastkd1 |
C |
T |
2: 69,532,715 (GRCm39) |
V551I |
probably benign |
Het |
| Fgd5 |
A |
G |
6: 91,964,427 (GRCm39) |
E220G |
probably benign |
Het |
| Gal3st2 |
T |
C |
1: 93,800,206 (GRCm39) |
V19A |
possibly damaging |
Het |
| Ghr |
T |
C |
15: 3,357,530 (GRCm39) |
E246G |
probably benign |
Het |
| Gm10228 |
A |
T |
16: 88,838,113 (GRCm39) |
Y64N |
unknown |
Het |
| Gsdmc4 |
T |
C |
15: 63,774,586 (GRCm39) |
N65S |
probably benign |
Het |
| Heatr5b |
C |
A |
17: 79,103,861 (GRCm39) |
A1105S |
probably benign |
Het |
| Hipk2 |
A |
T |
6: 38,724,909 (GRCm39) |
L376* |
probably null |
Het |
| Il6st |
A |
G |
13: 112,611,631 (GRCm39) |
T18A |
probably benign |
Het |
| Kif3b |
T |
C |
2: 153,159,468 (GRCm39) |
I423T |
probably benign |
Het |
| Klf17 |
T |
C |
4: 117,617,556 (GRCm39) |
Y267C |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,927,093 (GRCm39) |
T1183A |
probably benign |
Het |
| Lrrc71 |
A |
G |
3: 87,650,660 (GRCm39) |
S201P |
probably damaging |
Het |
| Mrgprb5 |
A |
T |
7: 47,818,509 (GRCm39) |
D75E |
probably damaging |
Het |
| Myef2l |
T |
C |
3: 10,157,353 (GRCm39) |
*499Q |
probably null |
Het |
| Myf6 |
A |
G |
10: 107,329,225 (GRCm39) |
V240A |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,257,450 (GRCm39) |
M698V |
possibly damaging |
Het |
| Nox4 |
G |
A |
7: 87,025,448 (GRCm39) |
R525Q |
probably benign |
Het |
| Nynrin |
T |
C |
14: 56,108,753 (GRCm39) |
S1287P |
possibly damaging |
Het |
| Or10ab5 |
A |
G |
7: 108,245,589 (GRCm39) |
S65P |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,538,132 (GRCm39) |
C898* |
probably null |
Het |
| Pdcd1 |
T |
C |
1: 93,969,091 (GRCm39) |
T76A |
probably benign |
Het |
| Plin2 |
T |
A |
4: 86,578,504 (GRCm39) |
M198L |
probably benign |
Het |
| Prmt7 |
T |
A |
8: 106,963,460 (GRCm39) |
V180D |
possibly damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,320,405 (GRCm39) |
Y549H |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,600,018 (GRCm39) |
S80P |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,787,546 (GRCm39) |
E235D |
probably damaging |
Het |
| Scart1 |
T |
C |
7: 139,808,503 (GRCm39) |
C805R |
probably damaging |
Het |
| Serpina9 |
A |
T |
12: 103,967,737 (GRCm39) |
S219R |
|
Het |
| Sesn2 |
G |
A |
4: 132,225,272 (GRCm39) |
T298I |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,324,872 (GRCm39) |
V838E |
possibly damaging |
Het |
| Sfpq |
C |
A |
4: 126,915,296 (GRCm39) |
H29Q |
unknown |
Het |
| Smchd1 |
A |
G |
17: 71,701,710 (GRCm39) |
|
probably null |
Het |
| Sprr1b |
A |
G |
3: 92,344,477 (GRCm39) |
V133A |
probably benign |
Het |
| Srgap3 |
T |
C |
6: 112,754,054 (GRCm39) |
Y243C |
probably damaging |
Het |
| Thop1 |
C |
T |
10: 80,917,228 (GRCm39) |
A577V |
possibly damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,410,014 (GRCm39) |
D200V |
probably benign |
Het |
| Treh |
A |
T |
9: 44,596,677 (GRCm39) |
K512M |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,845,127 (GRCm39) |
V1537A |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,582,083 (GRCm39) |
T44A |
probably benign |
Het |
| Vmn1r225 |
T |
A |
17: 20,722,577 (GRCm39) |
M6K |
possibly damaging |
Het |
| Vmn2r90 |
A |
C |
17: 17,954,286 (GRCm39) |
M817L |
probably benign |
Het |
| Zfp68 |
A |
T |
5: 138,604,699 (GRCm39) |
Y541* |
probably null |
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 |
|
R8520:Otud4
|
UTSW |
8 |
80,385,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CTGAGCCTAAGAGGACCATTC -3'
(R):5'- CCATTAAGTGTGTTGTCCCCTG -3'
Sequencing Primer
(F):5'- AGATCCCAAGACTGCTGCTGATG -3'
(R):5'- GTGTTGTCCCCTGTGGCC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation