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: 0.154)
|
| Stock # |
R5294 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
79639618-79677724 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79672892 bp (GRCm38)
|
| 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: 89,152,003 (GRCm38) |
|
noncoding transcript |
Het |
| Acaca |
A |
G |
11: 84,391,519 (GRCm38) |
E2154G |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,241,952 (GRCm38) |
F2056L |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,811,157 (GRCm38) |
|
probably benign |
Het |
| Amn1 |
T |
A |
6: 149,185,124 (GRCm38) |
|
probably benign |
Het |
| Arid1a |
C |
A |
4: 133,691,055 (GRCm38) |
|
probably benign |
Het |
| Aste1 |
T |
A |
9: 105,402,705 (GRCm38) |
|
probably null |
Het |
| Asxl3 |
T |
A |
18: 22,516,439 (GRCm38) |
V495D |
possibly damaging |
Het |
| Atp1a3 |
T |
A |
7: 24,988,048 (GRCm38) |
H688L |
probably damaging |
Het |
| B3gnt8 |
T |
C |
7: 25,628,766 (GRCm38) |
L207P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,978,602 (GRCm38) |
H101R |
probably benign |
Het |
| Bicc1 |
G |
A |
10: 70,947,900 (GRCm38) |
T387M |
possibly damaging |
Het |
| Champ1 |
A |
C |
8: 13,878,981 (GRCm38) |
K380Q |
probably damaging |
Het |
| Cnst |
A |
G |
1: 179,610,440 (GRCm38) |
E523G |
probably benign |
Het |
| Cops6 |
G |
C |
5: 138,161,116 (GRCm38) |
|
probably benign |
Het |
| Cp |
G |
C |
3: 19,966,316 (GRCm38) |
V158L |
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,873,483 (GRCm38) |
M52K |
possibly damaging |
Het |
| Dars |
A |
T |
1: 128,364,302 (GRCm38) |
F480I |
probably benign |
Het |
| Diaph1 |
T |
C |
18: 37,897,580 (GRCm38) |
M274V |
unknown |
Het |
| Diaph1 |
C |
A |
18: 37,897,550 (GRCm38) |
E284* |
probably null |
Het |
| Dock8 |
G |
A |
19: 25,061,153 (GRCm38) |
V68M |
probably benign |
Het |
| Elavl4 |
A |
G |
4: 110,211,430 (GRCm38) |
F247L |
possibly damaging |
Het |
| Emc10 |
C |
T |
7: 44,496,439 (GRCm38) |
|
probably benign |
Het |
| Fbxw16 |
T |
C |
9: 109,436,644 (GRCm38) |
D369G |
probably benign |
Het |
| Fgr |
A |
T |
4: 132,997,500 (GRCm38) |
D304V |
probably benign |
Het |
| Filip1l |
G |
A |
16: 57,570,036 (GRCm38) |
S91N |
possibly damaging |
Het |
| Gm884 |
A |
G |
11: 103,616,231 (GRCm38) |
|
probably benign |
Het |
| Haus8 |
A |
G |
8: 71,255,710 (GRCm38) |
S103P |
unknown |
Het |
| Hscb |
A |
G |
5: 110,834,792 (GRCm38) |
L143P |
probably damaging |
Het |
| Hsd11b2 |
A |
T |
8: 105,523,297 (GRCm38) |
M347L |
probably benign |
Het |
| Jrk |
C |
A |
15: 74,707,336 (GRCm38) |
E33D |
possibly damaging |
Het |
| Kbtbd8 |
T |
A |
6: 95,121,832 (GRCm38) |
Y123* |
probably null |
Het |
| Mis18bp1 |
A |
C |
12: 65,157,043 (GRCm38) |
M59R |
probably damaging |
Het |
| Mrps27 |
T |
C |
13: 99,409,873 (GRCm38) |
V260A |
probably damaging |
Het |
| Ncapg2 |
G |
T |
12: 116,427,794 (GRCm38) |
V488L |
possibly damaging |
Het |
| Nepn |
A |
T |
10: 52,400,800 (GRCm38) |
N211Y |
probably benign |
Het |
| Ntrk3 |
A |
T |
7: 78,517,506 (GRCm38) |
|
probably null |
Het |
| Olfr248 |
A |
T |
1: 174,391,225 (GRCm38) |
Y52F |
probably benign |
Het |
| Olfr692 |
C |
T |
7: 105,368,413 (GRCm38) |
T20I |
probably benign |
Het |
| Olfr748 |
A |
G |
14: 50,710,779 (GRCm38) |
I150V |
probably benign |
Het |
| Olfr748 |
A |
G |
14: 50,710,443 (GRCm38) |
T38A |
possibly damaging |
Het |
| P2ry14 |
A |
T |
3: 59,115,568 (GRCm38) |
I166N |
possibly damaging |
Het |
| Pak2 |
T |
A |
16: 32,021,830 (GRCm38) |
N478Y |
probably damaging |
Het |
| Papss2 |
A |
G |
19: 32,639,000 (GRCm38) |
D202G |
probably benign |
Het |
| Pcdh7 |
C |
A |
5: 57,728,111 (GRCm38) |
|
probably null |
Het |
| Peg3 |
C |
A |
7: 6,717,849 (GRCm38) |
S19I |
possibly damaging |
Het |
| Prim2 |
G |
T |
1: 33,668,893 (GRCm38) |
T40K |
probably benign |
Het |
| Ranbp2 |
T |
C |
10: 58,478,668 (GRCm38) |
F1737L |
probably benign |
Het |
| Rex2 |
A |
C |
4: 147,057,985 (GRCm38) |
N310T |
probably benign |
Het |
| Rnf123 |
AT |
ATT |
9: 108,064,003 (GRCm38) |
|
probably null |
Het |
| Rnf39 |
C |
T |
17: 36,947,200 (GRCm38) |
A86V |
probably damaging |
Het |
| Ror1 |
A |
T |
4: 100,425,938 (GRCm38) |
N400I |
probably benign |
Het |
| Slc38a8 |
C |
T |
8: 119,494,289 (GRCm38) |
G177D |
probably damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,956,310 (GRCm38) |
V445A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,718,908 (GRCm38) |
N23S |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,008,218 (GRCm38) |
F74L |
probably benign |
Het |
| Trappc11 |
G |
C |
8: 47,530,731 (GRCm38) |
A42G |
possibly damaging |
Het |
| Trim30d |
T |
C |
7: 104,472,488 (GRCm38) |
K350R |
probably damaging |
Het |
| Trnt1 |
T |
C |
6: 106,773,414 (GRCm38) |
F93S |
probably damaging |
Het |
| Ube2c |
T |
C |
2: 164,777,190 (GRCm38) |
V161A |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,362,357 (GRCm38) |
E555G |
possibly damaging |
Het |
| Vmn2r55 |
T |
G |
7: 12,651,864 (GRCm38) |
S730R |
probably damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,455,113 (GRCm38) |
N124K |
probably benign |
Het |
| Vmn2r98 |
T |
A |
17: 19,069,754 (GRCm38) |
C517* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,641,667 (GRCm38) |
I2845N |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,071,033 (GRCm38) |
E283D |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,236,922 (GRCm38) |
V896A |
probably benign |
Het |
| Zfp2 |
T |
C |
11: 50,901,241 (GRCm38) |
|
probably benign |
Het |
| Zgrf1 |
G |
A |
3: 127,600,980 (GRCm38) |
M1328I |
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,979,577 (GRCm38) |
D686G |
possibly damaging |
Het |
|
| Other mutations in Otud4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Otud4
|
APN |
8 |
79,672,881 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01353:Otud4
|
APN |
8 |
79,665,021 (GRCm38) |
missense |
probably benign |
|
|
IGL01371:Otud4
|
APN |
8 |
79,673,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01782:Otud4
|
APN |
8 |
79,673,011 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01912:Otud4
|
APN |
8 |
79,673,837 (GRCm38) |
missense |
probably benign |
|
|
IGL02294:Otud4
|
APN |
8 |
79,664,977 (GRCm38) |
splice site |
probably benign |
|
|
IGL02830:Otud4
|
APN |
8 |
79,673,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03063:Otud4
|
APN |
8 |
79,663,790 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03077:Otud4
|
APN |
8 |
79,673,458 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0437:Otud4
|
UTSW |
8 |
79,669,997 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1024:Otud4
|
UTSW |
8 |
79,664,093 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1118:Otud4
|
UTSW |
8 |
79,653,351 (GRCm38) |
splice site |
probably benign |
|
|
R1296:Otud4
|
UTSW |
8 |
79,673,974 (GRCm38) |
missense |
unknown |
|
|
R1321:Otud4
|
UTSW |
8 |
79,669,950 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1674:Otud4
|
UTSW |
8 |
79,673,147 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1736:Otud4
|
UTSW |
8 |
79,651,665 (GRCm38) |
splice site |
probably benign |
|
|
R1815:Otud4
|
UTSW |
8 |
79,639,989 (GRCm38) |
nonsense |
probably null |
|
|
R1950:Otud4
|
UTSW |
8 |
79,646,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1985:Otud4
|
UTSW |
8 |
79,640,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Otud4
|
UTSW |
8 |
79,668,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2869:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2869:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2870:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2870:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2872:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2872:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2907:Otud4
|
UTSW |
8 |
79,673,068 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3545:Otud4
|
UTSW |
8 |
79,665,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4628:Otud4
|
UTSW |
8 |
79,639,968 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4790:Otud4
|
UTSW |
8 |
79,666,773 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4989:Otud4
|
UTSW |
8 |
79,655,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5133:Otud4
|
UTSW |
8 |
79,655,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5134:Otud4
|
UTSW |
8 |
79,655,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5410:Otud4
|
UTSW |
8 |
79,672,997 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5454:Otud4
|
UTSW |
8 |
79,651,042 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5579:Otud4
|
UTSW |
8 |
79,664,108 (GRCm38) |
missense |
probably benign |
|
|
R5738:Otud4
|
UTSW |
8 |
79,673,461 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5886:Otud4
|
UTSW |
8 |
79,672,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6062:Otud4
|
UTSW |
8 |
79,673,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6364:Otud4
|
UTSW |
8 |
79,646,341 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6427:Otud4
|
UTSW |
8 |
79,668,497 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6450:Otud4
|
UTSW |
8 |
79,672,997 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6744:Otud4
|
UTSW |
8 |
79,673,778 (GRCm38) |
nonsense |
probably null |
|
|
R6773:Otud4
|
UTSW |
8 |
79,643,806 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7046:Otud4
|
UTSW |
8 |
79,651,042 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7142:Otud4
|
UTSW |
8 |
79,672,762 (GRCm38) |
splice site |
probably null |
|
|
R7420:Otud4
|
UTSW |
8 |
79,664,108 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7470:Otud4
|
UTSW |
8 |
79,673,360 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7670:Otud4
|
UTSW |
8 |
79,655,864 (GRCm38) |
splice site |
probably null |
|
|
R7736:Otud4
|
UTSW |
8 |
79,655,765 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8229:Otud4
|
UTSW |
8 |
79,673,975 (GRCm38) |
missense |
unknown |
|
|
R8397:Otud4
|
UTSW |
8 |
79,669,298 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8520:Otud4
|
UTSW |
8 |
79,659,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9041:Otud4
|
UTSW |
8 |
79,673,812 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9291:Otud4
|
UTSW |
8 |
79,646,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9495:Otud4
|
UTSW |
8 |
79,673,458 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9502:Otud4
|
UTSW |
8 |
79,673,851 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0024:Otud4
|
UTSW |
8 |
79,646,310 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Otud4
|
UTSW |
8 |
79,658,929 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Otud4
|
UTSW |
8 |
79,643,812 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Otud4
|
UTSW |
8 |
79,643,811 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Otud4
|
UTSW |
8 |
79,665,027 (GRCm38) |
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'
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| Posted On |
2016-07-22 |
Incidental Mutation