Incidental Mutation 'R6062:Otud4'
| ID |
483848 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
044227-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.184)
|
| Stock # |
R6062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
80366305-80404384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80400525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1080
(Y1080H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
| AlphaFold |
B2RRE7 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172614
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173078
AA Change: Y1080H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: Y1080H
| 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: Y1079H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: Y1079H
| 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 |
|
| Meta Mutation Damage Score |
0.0881 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atat1 |
T |
A |
17: 36,219,456 (GRCm39) |
Q136L |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,399,887 (GRCm39) |
L1531P |
probably damaging |
Het |
| Brca2 |
G |
A |
5: 150,480,354 (GRCm39) |
R2708H |
probably damaging |
Het |
| Cand1 |
G |
A |
10: 119,053,915 (GRCm39) |
A141V |
possibly damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,959,689 (GRCm39) |
S35P |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,806 (GRCm39) |
|
probably null |
Het |
| Colec10 |
T |
A |
15: 54,323,203 (GRCm39) |
M142K |
possibly damaging |
Het |
| Crtc1 |
G |
T |
8: 70,858,839 (GRCm39) |
D90E |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,142,319 (GRCm39) |
E1528G |
possibly damaging |
Het |
| Csnk2a2 |
A |
G |
8: 96,184,097 (GRCm39) |
V154A |
possibly damaging |
Het |
| Daglb |
T |
C |
5: 143,480,358 (GRCm39) |
I454T |
probably benign |
Het |
| Dtna |
C |
A |
18: 23,755,113 (GRCm39) |
N478K |
possibly damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,343,448 (GRCm39) |
|
probably benign |
Het |
| Ecpas |
G |
T |
4: 58,826,453 (GRCm39) |
S1038Y |
possibly damaging |
Het |
| Eefsec |
A |
T |
6: 88,332,611 (GRCm39) |
S200T |
probably benign |
Het |
| Enthd1 |
T |
A |
15: 80,336,916 (GRCm39) |
D506V |
probably damaging |
Het |
| Erbb2 |
A |
G |
11: 98,324,075 (GRCm39) |
Y736C |
probably damaging |
Het |
| Gabrg1 |
A |
G |
5: 70,938,056 (GRCm39) |
C183R |
probably damaging |
Het |
| Ginm1 |
T |
A |
10: 7,651,097 (GRCm39) |
H103L |
probably benign |
Het |
| Golgb1 |
C |
A |
16: 36,735,033 (GRCm39) |
Q1427K |
possibly damaging |
Het |
| Grb14 |
G |
T |
2: 64,852,964 (GRCm39) |
Q9K |
possibly damaging |
Het |
| Hbp1 |
A |
T |
12: 31,987,246 (GRCm39) |
M192K |
probably damaging |
Het |
| Herpud2 |
A |
T |
9: 25,020,284 (GRCm39) |
D357E |
probably damaging |
Het |
| Idi1 |
A |
G |
13: 8,937,541 (GRCm39) |
S111G |
probably damaging |
Het |
| Lrrc32 |
T |
C |
7: 98,147,748 (GRCm39) |
V176A |
probably benign |
Het |
| Matn1 |
T |
A |
4: 130,679,277 (GRCm39) |
D310E |
probably benign |
Het |
| Mbtps1 |
A |
T |
8: 120,257,830 (GRCm39) |
L469Q |
possibly damaging |
Het |
| Muc4 |
A |
G |
16: 32,579,682 (GRCm39) |
D2417G |
unknown |
Het |
| Myo7b |
T |
C |
18: 32,101,043 (GRCm39) |
T1551A |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,075,293 (GRCm39) |
M224T |
probably benign |
Het |
| Ola1 |
A |
T |
2: 73,029,842 (GRCm39) |
D92E |
probably damaging |
Het |
| Or1e28-ps1 |
A |
C |
11: 73,615,386 (GRCm39) |
C155G |
unknown |
Het |
| Or4l1 |
A |
T |
14: 50,166,119 (GRCm39) |
M294K |
probably damaging |
Het |
| Or5ar1 |
T |
G |
2: 85,671,458 (GRCm39) |
I226L |
probably benign |
Het |
| Or8b48 |
T |
A |
9: 38,450,440 (GRCm39) |
M83K |
probably damaging |
Het |
| Plce1 |
G |
A |
19: 38,513,195 (GRCm39) |
A165T |
probably benign |
Het |
| Prelid2 |
T |
C |
18: 42,045,530 (GRCm39) |
I127V |
probably benign |
Het |
| Rab35 |
A |
G |
5: 115,778,147 (GRCm39) |
I38V |
probably damaging |
Het |
| Rab3d |
T |
C |
9: 21,821,815 (GRCm39) |
T209A |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,590,744 (GRCm39) |
E321G |
probably damaging |
Het |
| Rem1 |
T |
C |
2: 152,470,017 (GRCm39) |
M1T |
probably null |
Het |
| Rgsl1 |
T |
C |
1: 153,675,618 (GRCm39) |
K181R |
possibly damaging |
Het |
| Scel |
C |
A |
14: 103,822,572 (GRCm39) |
N395K |
possibly damaging |
Het |
| Septin9 |
A |
G |
11: 117,181,626 (GRCm39) |
E142G |
possibly damaging |
Het |
| Shcbp1 |
A |
C |
8: 4,814,905 (GRCm39) |
M191R |
probably benign |
Het |
| Slc22a19 |
T |
C |
19: 7,651,647 (GRCm39) |
N520S |
probably damaging |
Het |
| Slc28a1 |
C |
T |
7: 80,765,311 (GRCm39) |
R9* |
probably null |
Het |
| Slc2a7 |
T |
C |
4: 150,252,884 (GRCm39) |
V508A |
probably benign |
Het |
| Slc8a3 |
G |
A |
12: 81,361,124 (GRCm39) |
P565L |
probably damaging |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Tenm3 |
T |
G |
8: 48,796,441 (GRCm39) |
I455L |
possibly damaging |
Het |
| Tmem267 |
T |
C |
13: 120,070,767 (GRCm39) |
S141P |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,925,848 (GRCm39) |
D1383V |
probably damaging |
Het |
| Usp9y |
G |
T |
Y: 1,454,199 (GRCm39) |
Q23K |
probably benign |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,241 (GRCm39) |
I30T |
possibly damaging |
Het |
| Zfp382 |
T |
C |
7: 29,833,015 (GRCm39) |
L222P |
probably damaging |
Het |
| Zfp950 |
T |
A |
19: 61,108,863 (GRCm39) |
K73N |
possibly 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 |
|
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'- AGACTGCTGCTGATGTGGTC -3'
(R):5'- GCCCCTTGAATTCATGTCCAAAG -3'
Sequencing Primer
(F):5'- TCTGTGGATAGATTGCAAAGACC -3'
(R):5'- CATGTCCAAAGTGTCATCAGAATAGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation