Incidental Mutation 'R9495:Otud4'
| ID |
717163 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Otud4
|
| Ensembl Gene |
ENSMUSG00000036990 |
| Gene Name |
OTU domain containing 4 |
| Synonyms |
4930431L18Rik, D8Ertd69e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R9495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
79639618-79677724 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79673458 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 934
(S934P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000173078]
[ENSMUST00000173286]
|
| AlphaFold |
B2RRE7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173078
AA Change: S934P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000133939
Gene: ENSMUSG00000036990
AA Change: S934P
| 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: S933P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000134097
Gene: ENSMUSG00000036990
AA Change: S933P
| 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: 99.1%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029J07Rik |
C |
T |
8: 45,956,421 (GRCm38) |
S287N |
probably damaging |
Het |
| 1700088E04Rik |
T |
A |
15: 79,135,642 (GRCm38) |
D158V |
probably benign |
Het |
| 2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 29,247,623 (GRCm38) |
|
probably benign |
Het |
| Acp5 |
G |
A |
9: 22,127,187 (GRCm38) |
Q273* |
probably null |
Het |
| Apoa5 |
G |
C |
9: 46,270,646 (GRCm38) |
R340P |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,999,798 (GRCm38) |
N468K |
probably damaging |
Het |
| Bphl |
A |
T |
13: 34,050,329 (GRCm38) |
I143L |
probably benign |
Het |
| C130079G13Rik |
T |
C |
3: 59,932,693 (GRCm38) |
I62T |
possibly damaging |
Het |
| Ccdc58 |
A |
G |
16: 36,072,121 (GRCm38) |
E12G |
probably benign |
Het |
| Cd33 |
A |
T |
7: 43,532,726 (GRCm38) |
H98Q |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 86,033,085 (GRCm38) |
S229* |
probably null |
Het |
| Colec10 |
A |
G |
15: 54,462,365 (GRCm38) |
D197G |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,383,795 (GRCm38) |
M759T |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 69,022,767 (GRCm38) |
Y165C |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 27,155,292 (GRCm38) |
V66M |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,454,382 (GRCm38) |
D2667G |
possibly damaging |
Het |
| Dok1 |
T |
C |
6: 83,032,991 (GRCm38) |
K46E |
probably damaging |
Het |
| Erv3 |
C |
A |
2: 131,856,055 (GRCm38) |
W128L |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,946,885 (GRCm38) |
S493P |
unknown |
Het |
| Fbn1 |
A |
T |
2: 125,319,064 (GRCm38) |
N2185K |
probably damaging |
Het |
| Figla |
A |
C |
6: 86,020,707 (GRCm38) |
H139P |
probably benign |
Het |
| Gemin4 |
A |
G |
11: 76,210,923 (GRCm38) |
L1004P |
probably damaging |
Het |
| Gm11937 |
T |
C |
11: 99,609,820 (GRCm38) |
T124A |
unknown |
Het |
| Gm17669 |
G |
T |
18: 67,562,612 (GRCm38) |
V76L |
probably benign |
Het |
| Gm8765 |
T |
A |
13: 50,701,429 (GRCm38) |
S368T |
possibly damaging |
Het |
| Hcls1 |
A |
T |
16: 36,957,340 (GRCm38) |
M274L |
probably benign |
Het |
| Hist2h2ab |
A |
G |
3: 96,220,085 (GRCm38) |
E57G |
probably damaging |
Het |
| Il17rc |
T |
C |
6: 113,472,780 (GRCm38) |
S116P |
probably damaging |
Het |
| Krt79 |
G |
A |
15: 101,931,853 (GRCm38) |
R303C |
probably damaging |
Het |
| Lamb2 |
C |
T |
9: 108,480,807 (GRCm38) |
T149I |
probably damaging |
Het |
| Lrrc41 |
T |
A |
4: 116,075,609 (GRCm38) |
|
probably null |
Het |
| Mga |
C |
A |
2: 119,951,195 (GRCm38) |
T2234K |
possibly damaging |
Het |
| Muc6 |
T |
A |
7: 141,651,133 (GRCm38) |
Q205L |
probably damaging |
Het |
| Nlrp9b |
A |
T |
7: 20,026,537 (GRCm38) |
K624N |
possibly damaging |
Het |
| Olfr463 |
C |
T |
11: 87,893,256 (GRCm38) |
V223M |
probably benign |
Het |
| Olfr49 |
T |
C |
14: 54,282,680 (GRCm38) |
T72A |
probably damaging |
Het |
| Olfr99 |
G |
T |
17: 37,280,495 (GRCm38) |
|
probably benign |
Het |
| Pcdha12 |
G |
T |
18: 37,022,473 (GRCm38) |
W748C |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,333,168 (GRCm38) |
I134T |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm38) |
|
probably benign |
Het |
| Pkn1 |
C |
T |
8: 83,684,170 (GRCm38) |
R276Q |
possibly damaging |
Het |
| Plin3 |
C |
A |
17: 56,280,824 (GRCm38) |
G297V |
probably benign |
Het |
| Podn |
C |
T |
4: 108,018,909 (GRCm38) |
V517I |
probably benign |
Het |
| Pomk |
T |
C |
8: 25,983,316 (GRCm38) |
D203G |
probably damaging |
Het |
| Ppil4 |
A |
G |
10: 7,799,591 (GRCm38) |
D168G |
probably damaging |
Het |
| Ptgr2 |
T |
C |
12: 84,307,873 (GRCm38) |
I276T |
probably benign |
Het |
| Ptk7 |
T |
A |
17: 46,576,818 (GRCm38) |
I563F |
possibly damaging |
Het |
| Rbm12 |
G |
T |
2: 156,097,818 (GRCm38) |
T178K |
unknown |
Het |
| Sctr |
T |
C |
1: 120,031,673 (GRCm38) |
|
probably null |
Het |
| Sh2b1 |
GGGACC |
GGGACCGGCTCAGCCACGTGGACC |
7: 126,467,572 (GRCm38) |
|
probably benign |
Het |
| Steap1 |
A |
T |
5: 5,736,458 (GRCm38) |
D326E |
probably damaging |
Het |
| Stra6 |
G |
A |
9: 58,151,892 (GRCm38) |
V513I |
probably benign |
Het |
| Tbx19 |
A |
G |
1: 165,138,977 (GRCm38) |
S443P |
unknown |
Het |
| Tcea3 |
T |
A |
4: 136,264,574 (GRCm38) |
C190S |
probably damaging |
Het |
| Tfr2 |
G |
A |
5: 137,574,439 (GRCm38) |
V171I |
probably benign |
Het |
| Tm7sf3 |
C |
T |
6: 146,623,681 (GRCm38) |
D89N |
possibly damaging |
Het |
| Tmem129 |
A |
G |
5: 33,657,778 (GRCm38) |
V17A |
probably benign |
Het |
| Tmem2 |
T |
A |
19: 21,801,885 (GRCm38) |
V353D |
probably damaging |
Het |
| Tmem87b |
T |
C |
2: 128,818,433 (GRCm38) |
L32P |
probably damaging |
Het |
| Tor1aip1 |
T |
A |
1: 156,030,431 (GRCm38) |
D205V |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,331,758 (GRCm38) |
V684A |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,993,178 (GRCm38) |
R1637C |
probably damaging |
Het |
| Uhrf1bp1 |
A |
G |
17: 27,893,440 (GRCm38) |
D1201G |
probably damaging |
Het |
| Ulbp1 |
C |
A |
10: 7,456,371 (GRCm38) |
M196I |
probably benign |
Het |
| Vash1 |
G |
A |
12: 86,691,889 (GRCm38) |
G370E |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,712,713 (GRCm38) |
T183A |
probably benign |
Het |
| Vta1 |
A |
G |
10: 14,655,839 (GRCm38) |
I264T |
probably benign |
Het |
| Zcchc8 |
A |
T |
5: 123,700,570 (GRCm38) |
M635K |
probably benign |
Het |
|
| Other mutations in Otud4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Otud4
|
APN |
8 |
79,672,881 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01353:Otud4
|
APN |
8 |
79,665,021 (GRCm38) |
missense |
probably benign |
|
|
IGL01371:Otud4
|
APN |
8 |
79,673,761 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01782:Otud4
|
APN |
8 |
79,673,011 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01912:Otud4
|
APN |
8 |
79,673,837 (GRCm38) |
missense |
probably benign |
|
|
IGL02294:Otud4
|
APN |
8 |
79,664,977 (GRCm38) |
splice site |
probably benign |
|
|
IGL02830:Otud4
|
APN |
8 |
79,673,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03063:Otud4
|
APN |
8 |
79,663,790 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03077:Otud4
|
APN |
8 |
79,673,458 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0437:Otud4
|
UTSW |
8 |
79,669,997 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1024:Otud4
|
UTSW |
8 |
79,664,093 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1118:Otud4
|
UTSW |
8 |
79,653,351 (GRCm38) |
splice site |
probably benign |
|
|
R1296:Otud4
|
UTSW |
8 |
79,673,974 (GRCm38) |
missense |
unknown |
|
|
R1321:Otud4
|
UTSW |
8 |
79,669,950 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1674:Otud4
|
UTSW |
8 |
79,673,147 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1736:Otud4
|
UTSW |
8 |
79,651,665 (GRCm38) |
splice site |
probably benign |
|
|
R1815:Otud4
|
UTSW |
8 |
79,639,989 (GRCm38) |
nonsense |
probably null |
|
|
R1950:Otud4
|
UTSW |
8 |
79,646,332 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1985:Otud4
|
UTSW |
8 |
79,640,012 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Otud4
|
UTSW |
8 |
79,668,464 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2869:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2869:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2870:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2870:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2872:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2872:Otud4
|
UTSW |
8 |
79,661,073 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R2907:Otud4
|
UTSW |
8 |
79,673,068 (GRCm38) |
missense |
probably benign |
0.02 |
|
R3545:Otud4
|
UTSW |
8 |
79,665,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4628:Otud4
|
UTSW |
8 |
79,639,968 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R4790:Otud4
|
UTSW |
8 |
79,666,773 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4989:Otud4
|
UTSW |
8 |
79,655,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5133:Otud4
|
UTSW |
8 |
79,655,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5134:Otud4
|
UTSW |
8 |
79,655,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5294:Otud4
|
UTSW |
8 |
79,672,892 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R5410:Otud4
|
UTSW |
8 |
79,672,997 (GRCm38) |
missense |
probably benign |
0.04 |
|
R5454:Otud4
|
UTSW |
8 |
79,651,042 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5579:Otud4
|
UTSW |
8 |
79,664,108 (GRCm38) |
missense |
probably benign |
|
|
R5738:Otud4
|
UTSW |
8 |
79,673,461 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5886:Otud4
|
UTSW |
8 |
79,672,807 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6062:Otud4
|
UTSW |
8 |
79,673,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6364:Otud4
|
UTSW |
8 |
79,646,341 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6427:Otud4
|
UTSW |
8 |
79,668,497 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6450:Otud4
|
UTSW |
8 |
79,672,997 (GRCm38) |
missense |
probably benign |
0.04 |
|
R6744:Otud4
|
UTSW |
8 |
79,673,778 (GRCm38) |
nonsense |
probably null |
|
|
R6773:Otud4
|
UTSW |
8 |
79,643,806 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7046:Otud4
|
UTSW |
8 |
79,651,042 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R7142:Otud4
|
UTSW |
8 |
79,672,762 (GRCm38) |
splice site |
probably null |
|
|
R7420:Otud4
|
UTSW |
8 |
79,664,108 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7470:Otud4
|
UTSW |
8 |
79,673,360 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7670:Otud4
|
UTSW |
8 |
79,655,864 (GRCm38) |
splice site |
probably null |
|
|
R7736:Otud4
|
UTSW |
8 |
79,655,765 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8229:Otud4
|
UTSW |
8 |
79,673,975 (GRCm38) |
missense |
unknown |
|
|
R8397:Otud4
|
UTSW |
8 |
79,669,298 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8520:Otud4
|
UTSW |
8 |
79,659,267 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9041:Otud4
|
UTSW |
8 |
79,673,812 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9291:Otud4
|
UTSW |
8 |
79,646,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9502:Otud4
|
UTSW |
8 |
79,673,851 (GRCm38) |
missense |
probably benign |
0.01 |
|
X0024:Otud4
|
UTSW |
8 |
79,646,310 (GRCm38) |
missense |
probably benign |
0.01 |
|
Z1176:Otud4
|
UTSW |
8 |
79,658,929 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Otud4
|
UTSW |
8 |
79,643,812 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Otud4
|
UTSW |
8 |
79,643,811 (GRCm38) |
nonsense |
probably null |
|
|
Z1177:Otud4
|
UTSW |
8 |
79,665,027 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTAGAAAATCCTGTAATGAGGC -3'
(R):5'- ACATCAGCAGCAGTCTTGGG -3'
Sequencing Primer
(F):5'- TGAGGCAAAATATTGTCCTGCCC -3'
(R):5'- CAGCAGCAGTCTTGGGATCTTTTAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation