Incidental Mutation 'R1736:Otud4'
| ID |
199718 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
039768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R1736 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 80378294 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134097
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
| AlphaFold |
B2RRE7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173078
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
| 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 benign
Transcript: ENSMUST00000173286
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (57/59) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,250,998 (GRCm39) |
N586D |
possibly damaging |
Het |
| Ak6 |
T |
A |
13: 100,791,689 (GRCm39) |
|
probably null |
Het |
| Ankrd66 |
T |
C |
17: 43,854,409 (GRCm39) |
D41G |
probably benign |
Het |
| Atp8b2 |
G |
A |
3: 89,860,001 (GRCm39) |
P339S |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,811,820 (GRCm39) |
V1297I |
probably damaging |
Het |
| Cbl |
A |
T |
9: 44,064,192 (GRCm39) |
D781E |
possibly damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,797,004 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,706,781 (GRCm39) |
Y2111H |
unknown |
Het |
| Csnk1g1 |
A |
G |
9: 65,927,197 (GRCm39) |
|
probably null |
Het |
| Dse |
A |
T |
10: 34,029,145 (GRCm39) |
N648K |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,376,966 (GRCm39) |
K1584E |
probably benign |
Het |
| Ezh2 |
A |
T |
6: 47,553,594 (GRCm39) |
M41K |
probably damaging |
Het |
| Fscn2 |
G |
A |
11: 120,258,852 (GRCm39) |
G466S |
probably damaging |
Het |
| Garin5b |
A |
G |
7: 4,761,153 (GRCm39) |
S520P |
probably damaging |
Het |
| Gm15217 |
A |
G |
14: 46,620,663 (GRCm39) |
|
probably benign |
Het |
| Gm9696 |
T |
C |
3: 59,879,696 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
G |
A |
11: 103,570,076 (GRCm39) |
Q162* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,487,593 (GRCm39) |
H3529Q |
possibly damaging |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2c |
A |
T |
5: 25,495,525 (GRCm39) |
I4074K |
probably damaging |
Het |
| Ly6g2 |
G |
A |
15: 75,089,569 (GRCm39) |
G26R |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,747,429 (GRCm39) |
D555G |
probably benign |
Het |
| Mindy2 |
A |
G |
9: 70,538,312 (GRCm39) |
I341T |
probably damaging |
Het |
| Mrnip |
G |
A |
11: 50,067,718 (GRCm39) |
|
probably null |
Het |
| Muc5b |
G |
A |
7: 141,412,844 (GRCm39) |
C1930Y |
unknown |
Het |
| Nfatc3 |
T |
G |
8: 106,805,482 (GRCm39) |
I109S |
probably damaging |
Het |
| Npas1 |
G |
T |
7: 16,208,541 (GRCm39) |
A112D |
probably benign |
Het |
| Npffr2 |
T |
A |
5: 89,715,925 (GRCm39) |
I84N |
probably damaging |
Het |
| Nxph4 |
T |
A |
10: 127,362,465 (GRCm39) |
H142L |
probably damaging |
Het |
| Per3 |
A |
G |
4: 151,093,705 (GRCm39) |
|
probably null |
Het |
| Pigr |
G |
A |
1: 130,769,540 (GRCm39) |
R117Q |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prex2 |
T |
A |
1: 11,160,108 (GRCm39) |
|
probably benign |
Het |
| Sall4 |
G |
A |
2: 168,594,555 (GRCm39) |
P420L |
probably benign |
Het |
| Sap30bp |
A |
G |
11: 115,855,046 (GRCm39) |
K252R |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,703,914 (GRCm39) |
Y692* |
probably null |
Het |
| Sema3e |
C |
T |
5: 14,260,390 (GRCm39) |
T181M |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,540,464 (GRCm39) |
I986V |
probably benign |
Het |
| Shisa4 |
A |
T |
1: 135,299,700 (GRCm39) |
Y194* |
probably null |
Het |
| Slc17a6 |
G |
A |
7: 51,311,333 (GRCm39) |
|
probably benign |
Het |
| Smg1 |
T |
G |
7: 117,765,190 (GRCm39) |
|
probably null |
Het |
| Smim7 |
C |
T |
8: 73,324,849 (GRCm39) |
G9R |
probably damaging |
Het |
| Spata31d1d |
C |
T |
13: 59,874,311 (GRCm39) |
G1075R |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stag3 |
T |
C |
5: 138,302,771 (GRCm39) |
|
probably benign |
Het |
| Tbce |
A |
G |
13: 14,184,227 (GRCm39) |
I217T |
possibly damaging |
Het |
| Tpk1 |
G |
A |
6: 43,588,284 (GRCm39) |
P27S |
probably benign |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,797 (GRCm39) |
I2V |
probably benign |
Het |
| Tulp4 |
T |
G |
17: 6,283,490 (GRCm39) |
V1173G |
possibly damaging |
Het |
| Uchl1 |
T |
C |
5: 66,834,417 (GRCm39) |
|
probably null |
Het |
| Ugt2b38 |
T |
A |
5: 87,571,492 (GRCm39) |
Q180L |
probably benign |
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 |
|
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 |
|
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'- ACAGCTTCTTTGAGAGCAAGCCC -3'
(R):5'- AGCACAGCTTAGGACCCTAGTCAC -3'
Sequencing Primer
(F):5'- GAGAGCAAGCCCTCCCTTTTAG -3'
(R):5'- GCTTAGGACCCTAGTCACAGTAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation