Incidental Mutation 'R5294:Otud4'
ID |
405308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otud4
|
Ensembl Gene |
ENSMUSG00000036990 |
Gene Name |
OTU domain containing 4 |
Synonyms |
4930431L18Rik, D8Ertd69e |
MMRRC Submission |
042877-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.184)
|
Stock # |
R5294 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 80399521 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 744
(Q744L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
AlphaFold |
B2RRE7 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172614
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173078
AA Change: Q745L
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000133939 Gene: ENSMUSG00000036990 AA Change: Q745L
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: Q744L
PolyPhen 2
Score 0.539 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000134097 Gene: ENSMUSG00000036990 AA Change: Q744L
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 |
0.0605 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
Validation Efficiency |
97% (70/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579C12Rik |
T |
C |
9: 89,034,056 (GRCm39) |
|
noncoding transcript |
Het |
Acaca |
A |
G |
11: 84,282,345 (GRCm39) |
E2154G |
probably benign |
Het |
Acacb |
T |
C |
5: 114,380,013 (GRCm39) |
F2056L |
probably damaging |
Het |
Aff1 |
A |
G |
5: 103,959,023 (GRCm39) |
|
probably benign |
Het |
Amn1 |
T |
A |
6: 149,086,622 (GRCm39) |
|
probably benign |
Het |
Arid1a |
C |
A |
4: 133,418,366 (GRCm39) |
|
probably benign |
Het |
Aste1 |
T |
A |
9: 105,279,904 (GRCm39) |
|
probably null |
Het |
Asxl3 |
T |
A |
18: 22,649,496 (GRCm39) |
V495D |
possibly damaging |
Het |
Atp1a3 |
T |
A |
7: 24,687,473 (GRCm39) |
H688L |
probably damaging |
Het |
B3gnt8 |
T |
C |
7: 25,328,191 (GRCm39) |
L207P |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,808,946 (GRCm39) |
H101R |
probably benign |
Het |
Bicc1 |
G |
A |
10: 70,783,730 (GRCm39) |
T387M |
possibly damaging |
Het |
Champ1 |
A |
C |
8: 13,928,981 (GRCm39) |
K380Q |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,438,005 (GRCm39) |
E523G |
probably benign |
Het |
Cops6 |
G |
C |
5: 138,159,378 (GRCm39) |
|
probably benign |
Het |
Cp |
G |
C |
3: 20,020,480 (GRCm39) |
V158L |
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,523,231 (GRCm39) |
M52K |
possibly damaging |
Het |
Dars1 |
A |
T |
1: 128,292,039 (GRCm39) |
F480I |
probably benign |
Het |
Diaph1 |
C |
A |
18: 38,030,603 (GRCm39) |
E284* |
probably null |
Het |
Diaph1 |
T |
C |
18: 38,030,633 (GRCm39) |
M274V |
unknown |
Het |
Dock8 |
G |
A |
19: 25,038,517 (GRCm39) |
V68M |
probably benign |
Het |
Elavl4 |
A |
G |
4: 110,068,627 (GRCm39) |
F247L |
possibly damaging |
Het |
Emc10 |
C |
T |
7: 44,145,863 (GRCm39) |
|
probably benign |
Het |
Fbxw16 |
T |
C |
9: 109,265,712 (GRCm39) |
D369G |
probably benign |
Het |
Fgr |
A |
T |
4: 132,724,811 (GRCm39) |
D304V |
probably benign |
Het |
Filip1l |
G |
A |
16: 57,390,399 (GRCm39) |
S91N |
possibly damaging |
Het |
Haus8 |
A |
G |
8: 71,708,354 (GRCm39) |
S103P |
unknown |
Het |
Hscb |
A |
G |
5: 110,982,658 (GRCm39) |
L143P |
probably damaging |
Het |
Hsd11b2 |
A |
T |
8: 106,249,929 (GRCm39) |
M347L |
probably benign |
Het |
Jrk |
C |
A |
15: 74,579,185 (GRCm39) |
E33D |
possibly damaging |
Het |
Kbtbd8 |
T |
A |
6: 95,098,813 (GRCm39) |
Y123* |
probably null |
Het |
Lrrc37 |
A |
G |
11: 103,507,057 (GRCm39) |
|
probably benign |
Het |
Mis18bp1 |
A |
C |
12: 65,203,817 (GRCm39) |
M59R |
probably damaging |
Het |
Mrps27 |
T |
C |
13: 99,546,381 (GRCm39) |
V260A |
probably damaging |
Het |
Ncapg2 |
G |
T |
12: 116,391,414 (GRCm39) |
V488L |
possibly damaging |
Het |
Nepn |
A |
T |
10: 52,276,896 (GRCm39) |
N211Y |
probably benign |
Het |
Ntrk3 |
A |
T |
7: 78,167,254 (GRCm39) |
|
probably null |
Het |
Or10x4 |
A |
T |
1: 174,218,791 (GRCm39) |
Y52F |
probably benign |
Het |
Or11h23 |
A |
G |
14: 50,947,900 (GRCm39) |
T38A |
possibly damaging |
Het |
Or11h23 |
A |
G |
14: 50,948,236 (GRCm39) |
I150V |
probably benign |
Het |
Or52w1 |
C |
T |
7: 105,017,620 (GRCm39) |
T20I |
probably benign |
Het |
P2ry14 |
A |
T |
3: 59,022,989 (GRCm39) |
I166N |
possibly damaging |
Het |
Pak2 |
T |
A |
16: 31,840,648 (GRCm39) |
N478Y |
probably damaging |
Het |
Papss2 |
A |
G |
19: 32,616,400 (GRCm39) |
D202G |
probably benign |
Het |
Pcdh7 |
C |
A |
5: 57,885,453 (GRCm39) |
|
probably null |
Het |
Peg3 |
C |
A |
7: 6,720,848 (GRCm39) |
S19I |
possibly damaging |
Het |
Prim2 |
G |
T |
1: 33,707,974 (GRCm39) |
T40K |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,314,490 (GRCm39) |
F1737L |
probably benign |
Het |
Rex2 |
A |
C |
4: 147,142,442 (GRCm39) |
N310T |
probably benign |
Het |
Rnf123 |
AT |
ATT |
9: 107,941,202 (GRCm39) |
|
probably null |
Het |
Rnf39 |
C |
T |
17: 37,258,092 (GRCm39) |
A86V |
probably damaging |
Het |
Ror1 |
A |
T |
4: 100,283,135 (GRCm39) |
N400I |
probably benign |
Het |
Slc38a8 |
C |
T |
8: 120,221,028 (GRCm39) |
G177D |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,786,654 (GRCm39) |
V445A |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,768,936 (GRCm39) |
N23S |
possibly damaging |
Het |
Taf5l |
A |
G |
8: 124,734,957 (GRCm39) |
F74L |
probably benign |
Het |
Trappc11 |
G |
C |
8: 47,983,766 (GRCm39) |
A42G |
possibly damaging |
Het |
Trim30d |
T |
C |
7: 104,121,695 (GRCm39) |
K350R |
probably damaging |
Het |
Trnt1 |
T |
C |
6: 106,750,375 (GRCm39) |
F93S |
probably damaging |
Het |
Ube2c |
T |
C |
2: 164,619,110 (GRCm39) |
V161A |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,219,554 (GRCm39) |
E555G |
possibly damaging |
Het |
Vmn2r55 |
T |
G |
7: 12,385,791 (GRCm39) |
S730R |
probably damaging |
Het |
Vmn2r89 |
T |
A |
14: 51,692,570 (GRCm39) |
N124K |
probably benign |
Het |
Vmn2r98 |
T |
A |
17: 19,290,016 (GRCm39) |
C517* |
probably null |
Het |
Vps13a |
A |
T |
19: 16,619,031 (GRCm39) |
I2845N |
probably damaging |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,547,848 (GRCm39) |
V896A |
probably benign |
Het |
Zfp2 |
T |
C |
11: 50,792,068 (GRCm39) |
|
probably benign |
Het |
Zgrf1 |
G |
A |
3: 127,394,629 (GRCm39) |
M1328I |
probably benign |
Het |
Zswim5 |
A |
G |
4: 116,836,774 (GRCm39) |
D686G |
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 |
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 |
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'- ATGTTGGTCCCCACTGTGATC -3'
(R):5'- TCCATGACCTTCAGACACCTG -3'
Sequencing Primer
(F):5'- GTTTTATATGCATGAGCGACTTAGC -3'
(R):5'- CACCTGAGATGGAGGGATAACC -3'
|
Posted On |
2016-07-22 |