Incidental Mutation 'R6266:Usp36'
| ID |
507025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp36
|
| Ensembl Gene |
ENSMUSG00000033909 |
| Gene Name |
ubiquitin specific peptidase 36 |
| Synonyms |
2700002L06Rik |
| MMRRC Submission |
044378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R6266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
118150477-118181070 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118159411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 513
(S513P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122761
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092382]
[ENSMUST00000106296]
[ENSMUST00000144153]
|
| AlphaFold |
B1AQJ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092382
AA Change: S678P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090036
Gene: ENSMUSG00000033909
AA Change: S678P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:NTR
|
1 |
29 |
3e-7 |
BLAST |
|
Pfam:UCH
|
121 |
420 |
2.6e-55 |
PFAM |
|
Pfam:UCH_1
|
122 |
402 |
3.6e-26 |
PFAM |
|
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
899 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1071 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106296
AA Change: S678P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101903
Gene: ENSMUSG00000033909
AA Change: S678P
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:NTR
|
1 |
29 |
3e-7 |
BLAST |
|
Pfam:UCH
|
121 |
420 |
2.1e-49 |
PFAM |
|
Pfam:UCH_1
|
122 |
402 |
2.2e-23 |
PFAM |
|
low complexity region
|
540 |
558 |
N/A |
INTRINSIC |
|
low complexity region
|
606 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
678 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
744 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
830 |
839 |
N/A |
INTRINSIC |
|
low complexity region
|
889 |
899 |
N/A |
INTRINSIC |
|
low complexity region
|
933 |
943 |
N/A |
INTRINSIC |
|
low complexity region
|
1055 |
1071 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141647
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144153
AA Change: S513P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122761
Gene: ENSMUSG00000033909
AA Change: S513P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
1 |
255 |
1e-40 |
PFAM |
|
Pfam:UCH_1
|
4 |
237 |
2.9e-17 |
PFAM |
|
low complexity region
|
375 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
528 |
N/A |
INTRINSIC |
|
low complexity region
|
579 |
598 |
N/A |
INTRINSIC |
|
low complexity region
|
665 |
674 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
734 |
N/A |
INTRINSIC |
|
low complexity region
|
768 |
778 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase C19 or ubiquitin-specific protease family of cysteine proteases. Members of this family remove ubiquitin molecules from polyubiquitinated proteins. The encoded protein may deubiquitinate and stabilize the transcription factor c-Myc, also known as MYC, an important oncoprotein known to be upregulated in most human cancers. The encoded protease may also regulate the activation of autophagy. This gene exhibits elevated expression in some breast and lung cancers. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a gene trap allele display lethality before implantation and arrest at the morula stage. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
| Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
| Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
| Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
| Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
| Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,549,911 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,426,683 (GRCm39) |
N1133K |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
| Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,414 (GRCm39) |
I136V |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
| Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
| Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
| Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
T |
C |
7: 105,385,596 (GRCm39) |
E3G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
| Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,126 (GRCm39) |
V147I |
probably benign |
Het |
| Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
| Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
| Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
| Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
| Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
| Tsen34 |
A |
G |
7: 3,696,984 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,176 (GRCm39) |
S392T |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
| Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
probably null |
Het |
|
| Other mutations in Usp36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Usp36
|
APN |
11 |
118,155,646 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01115:Usp36
|
APN |
11 |
118,176,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01720:Usp36
|
APN |
11 |
118,165,828 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02410:Usp36
|
APN |
11 |
118,167,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02700:Usp36
|
APN |
11 |
118,166,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02926:Usp36
|
APN |
11 |
118,155,609 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL03145:Usp36
|
APN |
11 |
118,170,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03203:Usp36
|
APN |
11 |
118,176,636 (GRCm39) |
missense |
probably benign |
0.42 |
|
IGL03265:Usp36
|
APN |
11 |
118,155,635 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0482:Usp36
|
UTSW |
11 |
118,156,020 (GRCm39) |
missense |
probably benign |
0.21 |
|
R0499:Usp36
|
UTSW |
11 |
118,164,397 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0606:Usp36
|
UTSW |
11 |
118,153,854 (GRCm39) |
splice site |
probably benign |
|
|
R0646:Usp36
|
UTSW |
11 |
118,163,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1579:Usp36
|
UTSW |
11 |
118,175,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Usp36
|
UTSW |
11 |
118,164,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1716:Usp36
|
UTSW |
11 |
118,162,957 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1886:Usp36
|
UTSW |
11 |
118,163,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2014:Usp36
|
UTSW |
11 |
118,153,334 (GRCm39) |
splice site |
probably benign |
|
|
R2068:Usp36
|
UTSW |
11 |
118,165,844 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2146:Usp36
|
UTSW |
11 |
118,159,491 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2191:Usp36
|
UTSW |
11 |
118,175,849 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2899:Usp36
|
UTSW |
11 |
118,167,582 (GRCm39) |
splice site |
probably benign |
|
|
R3176:Usp36
|
UTSW |
11 |
118,167,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3177:Usp36
|
UTSW |
11 |
118,167,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3276:Usp36
|
UTSW |
11 |
118,167,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3277:Usp36
|
UTSW |
11 |
118,167,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3615:Usp36
|
UTSW |
11 |
118,167,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3616:Usp36
|
UTSW |
11 |
118,167,585 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3768:Usp36
|
UTSW |
11 |
118,153,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Usp36
|
UTSW |
11 |
118,170,650 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3900:Usp36
|
UTSW |
11 |
118,170,650 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4484:Usp36
|
UTSW |
11 |
118,176,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4809:Usp36
|
UTSW |
11 |
118,153,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5135:Usp36
|
UTSW |
11 |
118,155,731 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5323:Usp36
|
UTSW |
11 |
118,156,020 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6226:Usp36
|
UTSW |
11 |
118,168,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7191:Usp36
|
UTSW |
11 |
118,159,660 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7215:Usp36
|
UTSW |
11 |
118,155,980 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7289:Usp36
|
UTSW |
11 |
118,164,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7535:Usp36
|
UTSW |
11 |
118,152,872 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7675:Usp36
|
UTSW |
11 |
118,154,522 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7843:Usp36
|
UTSW |
11 |
118,176,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8228:Usp36
|
UTSW |
11 |
118,155,716 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8902:Usp36
|
UTSW |
11 |
118,165,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8935:Usp36
|
UTSW |
11 |
118,167,657 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8995:Usp36
|
UTSW |
11 |
118,175,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9024:Usp36
|
UTSW |
11 |
118,166,983 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9325:Usp36
|
UTSW |
11 |
118,160,031 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9529:Usp36
|
UTSW |
11 |
118,159,461 (GRCm39) |
nonsense |
probably null |
|
|
R9774:Usp36
|
UTSW |
11 |
118,153,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Usp36
|
UTSW |
11 |
118,164,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Usp36
|
UTSW |
11 |
118,167,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCTCAGCTTGCAAACCG -3'
(R):5'- CCATTACTAACGGGCACAGG -3'
Sequencing Primer
(F):5'- CTGAAGTCCTCTGTGATTCC -3'
(R):5'- GGATTCAAGCAGCTCCAGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation