Incidental Mutation 'R6364:Otud4'
ID |
513419 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Otud4
|
Ensembl Gene |
ENSMUSG00000036990 |
Gene Name |
OTU domain containing 4 |
Synonyms |
4930431L18Rik, D8Ertd69e |
MMRRC Submission |
044514-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.168)
|
Stock # |
R6364 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80372970 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 96
(N96S)
|
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: N96S
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133939 Gene: ENSMUSG00000036990 AA Change: N96S
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 damaging
Transcript: ENSMUST00000173286
AA Change: N96S
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134097 Gene: ENSMUSG00000036990 AA Change: N96S
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
|
Meta Mutation Damage Score |
0.0618 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
99% (69/70) |
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 89,869,673 (GRCm39) |
Y234C |
possibly damaging |
Het |
Ambra1 |
C |
A |
2: 91,603,661 (GRCm39) |
H548Q |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,546,328 (GRCm39) |
|
probably null |
Het |
Apol11b |
A |
G |
15: 77,522,258 (GRCm39) |
V13A |
possibly damaging |
Het |
Arhgdib |
C |
T |
6: 136,909,253 (GRCm39) |
|
probably null |
Het |
B3galt1 |
T |
A |
2: 67,949,016 (GRCm39) |
S244T |
probably damaging |
Het |
Bace2 |
A |
G |
16: 97,214,633 (GRCm39) |
I274V |
probably benign |
Het |
Bfsp2 |
A |
T |
9: 103,325,827 (GRCm39) |
V272D |
probably damaging |
Het |
Blm |
A |
T |
7: 80,144,274 (GRCm39) |
C782* |
probably null |
Het |
Cfi |
G |
A |
3: 129,666,495 (GRCm39) |
S406N |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Cic |
C |
A |
7: 24,972,248 (GRCm39) |
H660N |
possibly damaging |
Het |
Cops3 |
A |
G |
11: 59,726,230 (GRCm39) |
|
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,950,939 (GRCm39) |
V502I |
possibly damaging |
Het |
Dync2i1 |
A |
T |
12: 116,205,352 (GRCm39) |
D412E |
probably damaging |
Het |
Epop |
A |
G |
11: 97,519,513 (GRCm39) |
S199P |
probably benign |
Het |
Evi5 |
G |
T |
5: 107,989,979 (GRCm39) |
P80Q |
probably damaging |
Het |
Faf1 |
T |
C |
4: 109,818,997 (GRCm39) |
V623A |
possibly damaging |
Het |
Fam83c |
T |
C |
2: 155,676,443 (GRCm39) |
D109G |
probably damaging |
Het |
Fam83d |
T |
C |
2: 158,625,179 (GRCm39) |
|
probably null |
Het |
Flacc1 |
G |
T |
1: 58,697,531 (GRCm39) |
A403D |
probably damaging |
Het |
Foxn3 |
T |
C |
12: 99,354,952 (GRCm39) |
N71D |
probably benign |
Het |
Gm7298 |
A |
G |
6: 121,756,402 (GRCm39) |
R1016G |
possibly damaging |
Het |
Grin2d |
T |
C |
7: 45,507,878 (GRCm39) |
E396G |
possibly damaging |
Het |
Htra2 |
C |
A |
6: 83,030,027 (GRCm39) |
V311F |
probably damaging |
Het |
Kif6 |
A |
T |
17: 49,927,651 (GRCm39) |
T33S |
probably benign |
Het |
Kmt2c |
T |
C |
5: 25,514,634 (GRCm39) |
I3070V |
probably null |
Het |
Krtap5-2 |
A |
T |
7: 141,728,800 (GRCm39) |
C293* |
probably null |
Het |
Lrp3 |
T |
A |
7: 34,903,134 (GRCm39) |
D404V |
probably benign |
Het |
LTO1 |
A |
G |
7: 144,473,005 (GRCm39) |
D105G |
probably benign |
Het |
Mc2r |
T |
G |
18: 68,540,607 (GRCm39) |
I229L |
probably benign |
Het |
Mtnr1b |
A |
G |
9: 15,774,300 (GRCm39) |
M253T |
possibly damaging |
Het |
Nfat5 |
A |
G |
8: 108,094,909 (GRCm39) |
N531S |
probably benign |
Het |
Niban3 |
G |
A |
8: 72,051,733 (GRCm39) |
G23S |
probably benign |
Het |
Npr2 |
T |
A |
4: 43,643,622 (GRCm39) |
I550N |
probably damaging |
Het |
Npy6r |
T |
C |
18: 44,409,578 (GRCm39) |
I333T |
possibly damaging |
Het |
Nup88 |
C |
T |
11: 70,838,612 (GRCm39) |
R468Q |
probably benign |
Het |
Nup98 |
G |
A |
7: 101,825,522 (GRCm39) |
T422I |
probably damaging |
Het |
Or10aa1 |
T |
A |
1: 173,869,778 (GRCm39) |
H87Q |
possibly damaging |
Het |
Paqr6 |
T |
C |
3: 88,273,265 (GRCm39) |
F86L |
probably damaging |
Het |
Ppp4r3b |
A |
T |
11: 29,138,035 (GRCm39) |
T90S |
probably benign |
Het |
Ptbp2 |
A |
T |
3: 119,534,091 (GRCm39) |
N23K |
probably damaging |
Het |
Ralgapb |
G |
T |
2: 158,304,029 (GRCm39) |
G596V |
probably damaging |
Het |
Rdm1 |
G |
A |
11: 101,521,068 (GRCm39) |
R94H |
probably benign |
Het |
Rergl |
A |
T |
6: 139,477,746 (GRCm39) |
F28I |
probably damaging |
Het |
Rif1 |
G |
T |
2: 51,997,681 (GRCm39) |
S1000I |
probably damaging |
Het |
Rnf141 |
C |
T |
7: 110,420,516 (GRCm39) |
A163T |
possibly damaging |
Het |
Scaf4 |
G |
A |
16: 90,057,136 (GRCm39) |
Q72* |
probably null |
Het |
Sdk1 |
G |
T |
5: 141,948,464 (GRCm39) |
S603I |
probably benign |
Het |
Sdsl |
T |
C |
5: 120,598,674 (GRCm39) |
I147M |
probably damaging |
Het |
Serpina6 |
T |
C |
12: 103,620,495 (GRCm39) |
N85D |
probably benign |
Het |
Serpinf2 |
A |
G |
11: 75,327,315 (GRCm39) |
I204T |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,964,146 (GRCm39) |
S795G |
probably benign |
Het |
Simc1 |
C |
T |
13: 54,672,413 (GRCm39) |
Q254* |
probably null |
Het |
Slc30a3 |
G |
A |
5: 31,246,083 (GRCm39) |
P216S |
possibly damaging |
Het |
Smim14 |
T |
A |
5: 65,610,639 (GRCm39) |
I53F |
probably benign |
Het |
Sp3 |
T |
C |
2: 72,801,285 (GRCm39) |
T243A |
probably benign |
Het |
Srpk2 |
A |
G |
5: 23,745,465 (GRCm39) |
F164L |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,543,910 (GRCm39) |
F4403L |
probably damaging |
Het |
Tbc1d30 |
T |
C |
10: 121,130,630 (GRCm39) |
T267A |
possibly damaging |
Het |
Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
Tmbim6 |
T |
C |
15: 99,304,066 (GRCm39) |
L113P |
probably damaging |
Het |
Tmcc1 |
G |
A |
6: 116,020,722 (GRCm39) |
|
probably benign |
Het |
Tomm7 |
A |
G |
5: 24,049,028 (GRCm39) |
L15P |
probably damaging |
Het |
Tpcn1 |
T |
C |
5: 120,691,875 (GRCm39) |
Y263C |
probably damaging |
Het |
Trim34b |
T |
C |
7: 103,985,733 (GRCm39) |
F456S |
probably damaging |
Het |
Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
Vmn2r108 |
A |
G |
17: 20,691,260 (GRCm39) |
I421T |
probably benign |
Het |
Wdr43 |
A |
G |
17: 71,964,649 (GRCm39) |
E676G |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,331,598 (GRCm39) |
|
probably benign |
Het |
Zfp64 |
C |
A |
2: 168,754,186 (GRCm39) |
G25V |
probably damaging |
Het |
Zswim8 |
C |
A |
14: 20,763,079 (GRCm39) |
P326H |
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 |
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'- AGTAAATCTGTTGCTGCTTGGC -3'
(R):5'- GCTACATTCATATGCCATGACAAAC -3'
Sequencing Primer
(F):5'- AGATCACCTGGAGCTGGGTTC -3'
(R):5'- ACTAGCTCTGTAGACCAGACTGG -3'
|
Posted On |
2018-04-27 |