Incidental Mutation 'R8397:Otud4'
ID |
647658 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otud4
|
Ensembl Gene |
ENSMUSG00000036990 |
Gene Name |
OTU domain containing 4 |
Synonyms |
4930431L18Rik, D8Ertd69e |
MMRRC Submission |
067760-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R8397 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80395927 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 567
(S567P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133939
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
AlphaFold |
B2RRE7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000173078
AA Change: S567P
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000133939 Gene: ENSMUSG00000036990 AA Change: S567P
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: S566P
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000134097 Gene: ENSMUSG00000036990 AA Change: S566P
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: 99.7%
- 20x: 99.2%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg3 |
A |
G |
8: 95,767,141 (GRCm39) |
T499A |
probably benign |
Het |
Ahsa1 |
G |
T |
12: 87,320,451 (GRCm39) |
E311* |
probably null |
Het |
Apol9a |
C |
T |
15: 77,288,813 (GRCm39) |
V185I |
probably benign |
Het |
Arhgap27 |
T |
A |
11: 103,224,073 (GRCm39) |
D580V |
probably damaging |
Het |
Arpp21 |
A |
C |
9: 111,978,440 (GRCm39) |
S298A |
possibly damaging |
Het |
B4galnt2 |
T |
A |
11: 95,756,989 (GRCm39) |
T481S |
probably benign |
Het |
Cct8 |
G |
A |
16: 87,290,651 (GRCm39) |
R59C |
possibly damaging |
Het |
Cdhr5 |
C |
T |
7: 140,851,801 (GRCm39) |
G501E |
possibly damaging |
Het |
Chka |
G |
A |
19: 3,902,414 (GRCm39) |
|
probably null |
Het |
Cit |
C |
A |
5: 116,024,856 (GRCm39) |
N366K |
probably benign |
Het |
Dennd4a |
A |
T |
9: 64,796,391 (GRCm39) |
M806L |
probably benign |
Het |
Dhx9 |
T |
A |
1: 153,344,657 (GRCm39) |
H510L |
probably damaging |
Het |
Esyt3 |
C |
T |
9: 99,209,966 (GRCm39) |
V305I |
probably benign |
Het |
Fbxo40 |
A |
T |
16: 36,790,985 (GRCm39) |
C42S |
probably damaging |
Het |
Fbxw26 |
T |
C |
9: 109,561,715 (GRCm39) |
M160V |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,560,562 (GRCm39) |
V1315A |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,231,464 (GRCm39) |
N374I |
possibly damaging |
Het |
Gm11992 |
T |
G |
11: 9,011,305 (GRCm39) |
S249A |
probably damaging |
Het |
Gm14418 |
T |
A |
2: 177,079,086 (GRCm39) |
Q303L |
probably damaging |
Het |
Hectd4 |
C |
A |
5: 121,397,957 (GRCm39) |
P295Q |
probably damaging |
Het |
Kdm2b |
T |
C |
5: 123,018,579 (GRCm39) |
N954D |
probably benign |
Het |
Klf15 |
C |
T |
6: 90,443,778 (GRCm39) |
H118Y |
probably damaging |
Het |
Lrit2 |
G |
T |
14: 36,791,034 (GRCm39) |
A238S |
probably damaging |
Het |
Man2c1 |
A |
C |
9: 57,042,783 (GRCm39) |
M218L |
probably benign |
Het |
Map3k1 |
T |
A |
13: 111,892,138 (GRCm39) |
H1039L |
probably damaging |
Het |
Map3k9 |
A |
G |
12: 81,769,136 (GRCm39) |
S971P |
probably benign |
Het |
Map4k3 |
C |
T |
17: 80,971,446 (GRCm39) |
V74I |
probably damaging |
Het |
Mars1 |
A |
T |
10: 127,136,368 (GRCm39) |
S486T |
possibly damaging |
Het |
Mettl13 |
A |
T |
1: 162,371,887 (GRCm39) |
S327R |
possibly damaging |
Het |
Mkks |
G |
A |
2: 136,722,923 (GRCm39) |
T78M |
possibly damaging |
Het |
Mst1 |
C |
T |
9: 107,958,698 (GRCm39) |
|
probably benign |
Het |
Myh1 |
G |
T |
11: 67,112,465 (GRCm39) |
A1811S |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,241,113 (GRCm39) |
H830R |
possibly damaging |
Het |
Nek4 |
A |
G |
14: 30,692,505 (GRCm39) |
D443G |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,438,518 (GRCm39) |
L137P |
probably damaging |
Het |
Nipsnap3b |
T |
C |
4: 53,012,049 (GRCm39) |
|
probably null |
Het |
Nos1ap |
G |
T |
1: 170,155,194 (GRCm39) |
P220T |
unknown |
Het |
Nrxn3 |
T |
A |
12: 90,298,583 (GRCm39) |
I368N |
probably benign |
Het |
Nup133 |
T |
A |
8: 124,649,156 (GRCm39) |
Q562L |
probably benign |
Het |
Nup214 |
T |
A |
2: 31,880,266 (GRCm39) |
L342Q |
probably damaging |
Het |
Nxn |
A |
G |
11: 76,163,232 (GRCm39) |
S264P |
probably damaging |
Het |
Or11g24 |
G |
T |
14: 50,662,137 (GRCm39) |
D54Y |
probably damaging |
Het |
Patl2 |
A |
C |
2: 121,955,754 (GRCm39) |
S261A |
probably damaging |
Het |
Pcdh15 |
C |
T |
10: 74,126,865 (GRCm39) |
P315S |
probably damaging |
Het |
Pcm1 |
T |
A |
8: 41,736,616 (GRCm39) |
H827Q |
probably damaging |
Het |
Pirb |
G |
A |
7: 3,719,045 (GRCm39) |
L615F |
probably damaging |
Het |
Ppp1r12c |
T |
A |
7: 4,492,768 (GRCm39) |
H236L |
probably damaging |
Het |
Prkd1 |
C |
T |
12: 50,439,675 (GRCm39) |
G384E |
probably benign |
Het |
Rmnd1 |
C |
A |
10: 4,377,278 (GRCm39) |
E134* |
probably null |
Het |
Rusc2 |
T |
A |
4: 43,424,206 (GRCm39) |
H1090Q |
possibly damaging |
Het |
Sema5b |
A |
C |
16: 35,471,691 (GRCm39) |
Y428S |
possibly damaging |
Het |
Slc2a8 |
T |
A |
2: 32,866,010 (GRCm39) |
I301L |
probably benign |
Het |
Slc38a11 |
C |
T |
2: 65,160,635 (GRCm39) |
V320M |
probably damaging |
Het |
Slc4a5 |
G |
T |
6: 83,266,308 (GRCm39) |
|
probably null |
Het |
Slc7a6 |
T |
C |
8: 106,920,165 (GRCm39) |
I320T |
probably damaging |
Het |
Slc8a3 |
A |
G |
12: 81,246,542 (GRCm39) |
I837T |
probably benign |
Het |
Spag1 |
C |
T |
15: 36,197,895 (GRCm39) |
R286* |
probably null |
Het |
Tlr3 |
A |
T |
8: 45,851,896 (GRCm39) |
F334I |
possibly damaging |
Het |
Unc13b |
A |
G |
4: 43,217,290 (GRCm39) |
I530V |
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,886,722 (GRCm39) |
D64G |
possibly damaging |
Het |
Zfp157 |
T |
A |
5: 138,454,518 (GRCm39) |
Y239N |
probably 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 |
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 |
|
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'- AAAAGCTTGTTTCTTGGCGC -3'
(R):5'- TAAGTCTGCTGTGGTCCAGAC -3'
Sequencing Primer
(F):5'- GGCGCTAGGCAAATTTGTTAATATG -3'
(R):5'- GTCCAGACCTCACTCAAGAACTTG -3'
|
Posted On |
2020-09-02 |