Incidental Mutation 'R2869:Otud4'
ID |
266448 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otud4
|
Ensembl Gene |
ENSMUSG00000036990 |
Gene Name |
OTU domain containing 4 |
Synonyms |
4930431L18Rik, D8Ertd69e |
MMRRC Submission |
040457-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R2869 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 80387702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 300
(N300K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134097
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
AlphaFold |
B2RRE7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173078
AA Change: N301K
PolyPhen 2
Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000133939 Gene: ENSMUSG00000036990 AA Change: N301K
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: N300K
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000134097 Gene: ENSMUSG00000036990 AA Change: N300K
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: ENSMUST00000173300
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173868
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174485
|
Meta Mutation Damage Score |
0.0986 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Als2 |
A |
G |
1: 59,250,296 (GRCm39) |
S483P |
probably damaging |
Het |
C030034I22Rik |
T |
A |
17: 69,725,106 (GRCm39) |
|
noncoding transcript |
Het |
Carmil1 |
G |
A |
13: 24,229,051 (GRCm39) |
|
silent |
Het |
Ccl27a |
C |
T |
4: 41,769,640 (GRCm39) |
R73Q |
probably benign |
Het |
Cd6 |
A |
G |
19: 10,771,990 (GRCm39) |
I307T |
possibly damaging |
Het |
Dennd2b |
A |
T |
7: 109,156,637 (GRCm39) |
Y38N |
probably benign |
Het |
Dhx57 |
A |
T |
17: 80,558,805 (GRCm39) |
D1051E |
probably benign |
Het |
Eif4enif1 |
C |
T |
11: 3,192,586 (GRCm39) |
P805S |
probably damaging |
Het |
Fan1 |
A |
G |
7: 64,012,938 (GRCm39) |
I668T |
probably benign |
Het |
Frmpd4 |
A |
T |
X: 166,260,243 (GRCm39) |
D1166E |
probably benign |
Homo |
Gbp11 |
C |
T |
5: 105,478,866 (GRCm39) |
D191N |
probably benign |
Het |
Ggt6 |
A |
T |
11: 72,328,187 (GRCm39) |
N229I |
probably benign |
Het |
Gm26902 |
T |
A |
19: 34,452,210 (GRCm39) |
H106L |
probably benign |
Het |
Gm37340 |
G |
A |
2: 6,955,739 (GRCm39) |
|
probably benign |
Het |
Gm9874 |
A |
T |
17: 30,704,763 (GRCm39) |
|
probably benign |
Het |
Gria2 |
G |
A |
3: 80,609,799 (GRCm39) |
T670I |
probably damaging |
Het |
Gsdme |
A |
T |
6: 50,185,157 (GRCm39) |
C432* |
probably null |
Het |
Habp2 |
T |
A |
19: 56,276,423 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,614,467 (GRCm39) |
V1313D |
possibly damaging |
Het |
Kcnb1 |
A |
G |
2: 166,947,855 (GRCm39) |
L331P |
probably damaging |
Het |
Klf8 |
A |
T |
X: 152,165,678 (GRCm39) |
E82D |
probably damaging |
Homo |
Krt13 |
A |
G |
11: 100,008,475 (GRCm39) |
S421P |
unknown |
Het |
Lactbl1 |
G |
A |
4: 136,354,097 (GRCm39) |
C37Y |
probably damaging |
Het |
Lzts2 |
C |
A |
19: 45,012,534 (GRCm39) |
S321* |
probably null |
Het |
Marchf8 |
C |
T |
6: 116,378,106 (GRCm39) |
|
probably benign |
Het |
Meikin |
T |
C |
11: 54,264,333 (GRCm39) |
V103A |
possibly damaging |
Het |
Mki67 |
G |
A |
7: 135,309,878 (GRCm39) |
P191L |
probably benign |
Het |
Mlxip |
A |
G |
5: 123,590,730 (GRCm39) |
M878V |
probably benign |
Het |
Mpp7 |
G |
A |
18: 7,461,678 (GRCm39) |
P65L |
possibly damaging |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nav1 |
A |
G |
1: 135,388,495 (GRCm39) |
|
silent |
Het |
Nbn |
T |
A |
4: 15,963,810 (GRCm39) |
D70E |
probably damaging |
Het |
Nell1 |
A |
T |
7: 49,899,405 (GRCm39) |
|
probably benign |
Het |
Nomo1 |
C |
A |
7: 45,696,361 (GRCm39) |
T293N |
probably damaging |
Het |
Notum |
A |
G |
11: 120,551,022 (GRCm39) |
V48A |
probably benign |
Het |
Nwd2 |
A |
T |
5: 63,957,671 (GRCm39) |
I334L |
probably benign |
Het |
Or10z1 |
T |
C |
1: 174,078,092 (GRCm39) |
S134G |
probably benign |
Het |
Or4k2 |
T |
C |
14: 50,423,811 (GRCm39) |
T288A |
probably benign |
Het |
Or6c211 |
A |
T |
10: 129,505,628 (GRCm39) |
C253* |
probably null |
Het |
Ostc |
T |
C |
3: 130,497,157 (GRCm39) |
N80S |
probably damaging |
Het |
Palmd |
T |
C |
3: 116,717,400 (GRCm39) |
R366G |
possibly damaging |
Het |
Parp1 |
A |
G |
1: 180,401,230 (GRCm39) |
D45G |
probably damaging |
Het |
Pes1 |
C |
A |
11: 3,926,834 (GRCm39) |
T372K |
probably benign |
Het |
Plcl1 |
A |
T |
1: 55,736,309 (GRCm39) |
D550V |
probably benign |
Het |
Ppp1r7 |
T |
A |
1: 93,285,585 (GRCm39) |
|
probably null |
Het |
Prdx4 |
A |
G |
X: 154,123,460 (GRCm39) |
V15A |
probably benign |
Homo |
Psmb8 |
T |
C |
17: 34,419,144 (GRCm39) |
I146T |
probably damaging |
Het |
Psmd13 |
A |
T |
7: 140,466,968 (GRCm39) |
T116S |
probably damaging |
Het |
Pzp |
A |
T |
6: 128,462,519 (GRCm39) |
|
probably null |
Het |
Serinc2 |
A |
G |
4: 130,159,005 (GRCm39) |
S29P |
probably damaging |
Het |
Slc39a8 |
T |
A |
3: 135,592,554 (GRCm39) |
|
probably null |
Het |
Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
St7 |
C |
T |
6: 17,819,276 (GRCm39) |
P60L |
probably damaging |
Het |
Stx3 |
A |
T |
19: 11,766,938 (GRCm39) |
V91D |
probably damaging |
Het |
Taf6l |
A |
G |
19: 8,755,992 (GRCm39) |
|
probably benign |
Het |
Tafa2 |
A |
T |
10: 123,540,270 (GRCm39) |
H42L |
possibly damaging |
Het |
Tnni3k |
C |
T |
3: 154,644,387 (GRCm39) |
|
probably null |
Het |
Tprg1 |
T |
C |
16: 25,231,590 (GRCm39) |
W189R |
probably damaging |
Het |
Trim32 |
A |
G |
4: 65,532,694 (GRCm39) |
D417G |
probably damaging |
Het |
Vmn2r68 |
A |
C |
7: 84,882,834 (GRCm39) |
M306R |
probably benign |
Het |
Vwa7 |
G |
A |
17: 35,240,218 (GRCm39) |
M395I |
probably damaging |
Het |
Ybx3 |
G |
A |
6: 131,347,376 (GRCm39) |
A253V |
probably damaging |
Het |
Zfp53 |
A |
T |
17: 21,728,340 (GRCm39) |
E124D |
probably benign |
Het |
Zzz3 |
T |
A |
3: 152,152,481 (GRCm39) |
|
silent |
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 |
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 |
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'- TTGATAGACAGCTGCTGGTG -3'
(R):5'- TTTGCAAGTCAATTCCACCACC -3'
Sequencing Primer
(F):5'- CAGCTGCTGGTGTATGCG -3'
(R):5'- ACCACCCCTCATGATTTTTCTAAAG -3'
|
Posted On |
2015-02-18 |