Incidental Mutation 'R7670:Otud4'
ID |
628373 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otud4
|
Ensembl Gene |
ENSMUSG00000036990 |
Gene Name |
OTU domain containing 4 |
Synonyms |
4930431L18Rik, D8Ertd69e |
MMRRC Submission |
045742-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R7670 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
Type of Mutation |
splice site (72 bp from exon) |
DNA Base Change (assembly) |
T to A
at 80382493 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 null
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 null
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (62/62) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 44,023,190 (GRCm39) |
H100L |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,022,263 (GRCm39) |
N187S |
probably damaging |
Het |
Adipoq |
T |
A |
16: 22,976,332 (GRCm39) |
H244Q |
probably damaging |
Het |
Arhgap40 |
T |
A |
2: 158,373,845 (GRCm39) |
S209T |
probably benign |
Het |
Arrdc3 |
C |
T |
13: 81,037,212 (GRCm39) |
L123F |
probably damaging |
Het |
Aspscr1 |
A |
G |
11: 120,579,865 (GRCm39) |
N212D |
probably benign |
Het |
Ccr9 |
A |
T |
9: 123,608,371 (GRCm39) |
S18C |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,646 (GRCm39) |
V270D |
probably damaging |
Het |
Clic4 |
A |
G |
4: 134,944,516 (GRCm39) |
Y220H |
probably damaging |
Het |
Cntln |
A |
C |
4: 84,897,577 (GRCm39) |
H388P |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,538,925 (GRCm39) |
V2457A |
probably damaging |
Het |
Ctsk |
A |
G |
3: 95,408,925 (GRCm39) |
N103D |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,428,826 (GRCm39) |
S779P |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,246,378 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,148,462 (GRCm39) |
D279E |
probably benign |
Het |
Eif1ad10 |
T |
C |
12: 88,216,524 (GRCm39) |
N116S |
probably benign |
Het |
Fam117a |
A |
G |
11: 95,269,660 (GRCm39) |
N308S |
probably benign |
Het |
Fasn |
A |
G |
11: 120,704,245 (GRCm39) |
V1419A |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,678,802 (GRCm39) |
S625P |
probably benign |
Het |
Gemin5 |
A |
G |
11: 58,038,754 (GRCm39) |
V585A |
probably benign |
Het |
Gm5145 |
C |
A |
17: 20,790,646 (GRCm39) |
P8Q |
probably benign |
Het |
Herc1 |
C |
A |
9: 66,323,629 (GRCm39) |
T1381K |
probably damaging |
Het |
Herc6 |
T |
C |
6: 57,637,107 (GRCm39) |
I824T |
probably damaging |
Het |
Klrb1 |
C |
T |
6: 128,687,050 (GRCm39) |
V161I |
probably benign |
Het |
Krtap31-1 |
A |
G |
11: 99,799,258 (GRCm39) |
N154D |
not run |
Het |
Lcp1 |
A |
T |
14: 75,437,871 (GRCm39) |
I94F |
probably benign |
Het |
Lin7a |
A |
T |
10: 107,218,552 (GRCm39) |
Q154L |
possibly damaging |
Het |
Lnx1 |
T |
C |
5: 74,846,351 (GRCm39) |
Y33C |
probably damaging |
Het |
Myo5b |
T |
C |
18: 74,834,517 (GRCm39) |
V859A |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,170,015 (GRCm39) |
Q696R |
probably damaging |
Het |
Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
Nme8 |
T |
C |
13: 19,842,999 (GRCm39) |
E392G |
probably benign |
Het |
Nufip1 |
CAAAACAGAAAACAGAAAAC |
CAAAACAGAAAACAGAAAACAGAAAAC |
14: 76,349,414 (GRCm39) |
|
probably null |
Het |
Nuggc |
A |
G |
14: 65,850,975 (GRCm39) |
I298V |
probably damaging |
Het |
Nup155 |
A |
C |
15: 8,183,180 (GRCm39) |
K1247Q |
probably damaging |
Het |
Or1a1 |
A |
G |
11: 74,087,033 (GRCm39) |
K235E |
probably damaging |
Het |
Or5c1 |
A |
T |
2: 37,221,771 (GRCm39) |
E4V |
probably benign |
Het |
Pacc1 |
A |
G |
1: 191,073,065 (GRCm39) |
N162S |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,624,749 (GRCm39) |
V693A |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
Prkca |
A |
T |
11: 107,905,170 (GRCm39) |
N189K |
probably damaging |
Het |
Rbm24 |
A |
G |
13: 46,582,683 (GRCm39) |
I201V |
probably benign |
Het |
Reep6 |
T |
C |
10: 80,169,627 (GRCm39) |
L105P |
probably damaging |
Het |
Retreg1 |
T |
C |
15: 25,941,126 (GRCm39) |
|
probably benign |
Het |
Rev3l |
C |
T |
10: 39,712,718 (GRCm39) |
T2382I |
probably benign |
Het |
Rnf31 |
A |
G |
14: 55,831,818 (GRCm39) |
N230S |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,115,548 (GRCm39) |
L969P |
probably benign |
Het |
Rsph4a |
T |
A |
10: 33,785,029 (GRCm39) |
N313K |
probably damaging |
Het |
Serpina3f |
T |
A |
12: 104,183,525 (GRCm39) |
L129Q |
probably damaging |
Het |
Slc9a2 |
T |
A |
1: 40,758,157 (GRCm39) |
V232D |
probably damaging |
Het |
Stmn2 |
T |
C |
3: 8,619,925 (GRCm39) |
L121P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,097,424 (GRCm39) |
G1373D |
probably damaging |
Het |
Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
Tns1 |
C |
A |
1: 73,991,636 (GRCm39) |
R1014L |
possibly damaging |
Het |
Top2b |
T |
C |
14: 16,416,620 (GRCm38) |
S1127P |
possibly damaging |
Het |
Txndc16 |
A |
T |
14: 45,373,324 (GRCm39) |
C768* |
probably null |
Het |
Ubl7 |
A |
T |
9: 57,837,052 (GRCm39) |
E354D |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,516,905 (GRCm39) |
L3205P |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,340,917 (GRCm39) |
T1053A |
possibly damaging |
Het |
Zbtb21 |
A |
G |
16: 97,753,077 (GRCm39) |
L402P |
probably damaging |
Het |
Zfp27 |
T |
A |
7: 29,594,221 (GRCm39) |
K581N |
possibly damaging |
Het |
Zfp62 |
A |
T |
11: 49,105,903 (GRCm39) |
|
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 |
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 |
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'- ACAGCTCTCCTTTATGAGTTGC -3'
(R):5'- AACCGCACTTCATCACTGG -3'
Sequencing Primer
(F):5'- GCTGTATGAGAAGGTATTCAAAACTG -3'
(R):5'- ACTGGATGTGAAAACAAGGTAAC -3'
|
Posted On |
2020-03-13 |