Incidental Mutation 'R5826:Usp37'
ID |
450153 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp37
|
Ensembl Gene |
ENSMUSG00000033364 |
Gene Name |
ubiquitin specific peptidase 37 |
Synonyms |
C330008N13Rik, 4932415L06Rik |
MMRRC Submission |
043217-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5826 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
74474670-74583443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74509785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 461
(N461K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140670
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044260]
[ENSMUST00000189257]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044260
AA Change: N461K
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000035445 Gene: ENSMUSG00000033364 AA Change: N461K
Domain | Start | End | E-Value | Type |
Pfam:UCH_N
|
1 |
105 |
5.1e-47 |
PFAM |
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
Pfam:UCH_1
|
341 |
645 |
3.4e-16 |
PFAM |
UIM
|
704 |
723 |
1.33e1 |
SMART |
UIM
|
806 |
825 |
1.04e-1 |
SMART |
UIM
|
828 |
847 |
2.11e-2 |
SMART |
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188012
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189257
AA Change: N461K
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140670 Gene: ENSMUSG00000033364 AA Change: N461K
Domain | Start | End | E-Value | Type |
PDB:3U12|B
|
4 |
125 |
2e-71 |
PDB |
low complexity region
|
182 |
200 |
N/A |
INTRINSIC |
Pfam:UCH_1
|
341 |
608 |
4.3e-19 |
PFAM |
low complexity region
|
628 |
646 |
N/A |
INTRINSIC |
UIM
|
704 |
723 |
1.33e1 |
SMART |
UIM
|
806 |
825 |
1.04e-1 |
SMART |
UIM
|
828 |
847 |
2.11e-2 |
SMART |
low complexity region
|
893 |
909 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191058
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit complete embryonic lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,632,056 (GRCm39) |
H4992R |
probably damaging |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Akr1c20 |
T |
C |
13: 4,560,222 (GRCm39) |
E152G |
probably damaging |
Het |
Ano4 |
T |
A |
10: 88,788,189 (GRCm39) |
D877V |
probably damaging |
Het |
Asb18 |
A |
C |
1: 89,942,260 (GRCm39) |
S14A |
probably damaging |
Het |
Atrnl1 |
T |
A |
19: 57,618,724 (GRCm39) |
Y147* |
probably null |
Het |
Cbfa2t2 |
A |
G |
2: 154,342,375 (GRCm39) |
I30M |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,675,242 (GRCm39) |
L1293* |
probably null |
Het |
Csmd2 |
T |
C |
4: 128,412,992 (GRCm39) |
|
probably null |
Het |
Cst9 |
G |
A |
2: 148,680,393 (GRCm39) |
V120I |
possibly damaging |
Het |
Ddah2 |
A |
G |
17: 35,279,664 (GRCm39) |
D128G |
probably damaging |
Het |
Defb11 |
T |
C |
8: 22,395,510 (GRCm39) |
I56V |
probably benign |
Het |
Dnah17 |
A |
T |
11: 117,925,193 (GRCm39) |
L3880Q |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,389,623 (GRCm39) |
T508A |
possibly damaging |
Het |
Ephb2 |
T |
A |
4: 136,388,048 (GRCm39) |
H685L |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,752,449 (GRCm39) |
Y387C |
probably damaging |
Het |
Gucy2e |
A |
G |
11: 69,126,859 (GRCm39) |
S205P |
possibly damaging |
Het |
Has2 |
T |
A |
15: 56,531,498 (GRCm39) |
I406F |
probably damaging |
Het |
Hcrtr2 |
A |
C |
9: 76,230,569 (GRCm39) |
V73G |
probably benign |
Het |
Hsd17b4 |
A |
T |
18: 50,316,239 (GRCm39) |
Q622L |
probably benign |
Het |
Nlrp1b |
A |
T |
11: 71,072,022 (GRCm39) |
M607K |
probably benign |
Het |
Nol6 |
T |
A |
4: 41,122,158 (GRCm39) |
D184V |
probably benign |
Het |
Noxa1 |
T |
A |
2: 24,976,253 (GRCm39) |
Q345L |
probably damaging |
Het |
Nudt6 |
T |
C |
3: 37,473,617 (GRCm39) |
T35A |
probably benign |
Het |
Phf8-ps |
C |
A |
17: 33,284,288 (GRCm39) |
R838I |
possibly damaging |
Het |
Plcg2 |
T |
C |
8: 118,337,583 (GRCm39) |
V985A |
probably benign |
Het |
Plxnc1 |
C |
T |
10: 94,635,335 (GRCm39) |
|
probably null |
Het |
Prkdc |
G |
A |
16: 15,551,962 (GRCm39) |
R2056H |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,612,246 (GRCm39) |
I49N |
probably benign |
Het |
Ralgapa1 |
T |
G |
12: 55,723,898 (GRCm39) |
S1543R |
probably damaging |
Het |
Rnf135 |
A |
T |
11: 80,089,912 (GRCm39) |
N416I |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,350,399 (GRCm39) |
L825P |
probably damaging |
Het |
Septin11 |
A |
T |
5: 93,287,309 (GRCm39) |
N8I |
possibly damaging |
Het |
Slc13a3 |
T |
C |
2: 165,250,876 (GRCm39) |
I456V |
probably benign |
Het |
Slc16a3 |
A |
G |
11: 120,847,756 (GRCm39) |
T315A |
probably benign |
Het |
Sun1 |
T |
G |
5: 139,231,171 (GRCm39) |
F657C |
probably damaging |
Het |
Tmco3 |
T |
C |
8: 13,360,314 (GRCm39) |
S34P |
probably damaging |
Het |
Tnrc18 |
G |
A |
5: 142,759,502 (GRCm39) |
P778L |
unknown |
Het |
Ubxn4 |
A |
C |
1: 128,194,058 (GRCm39) |
K284T |
possibly damaging |
Het |
Vmn2r106 |
A |
T |
17: 20,499,133 (GRCm39) |
F259L |
probably benign |
Het |
Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
|
Other mutations in Usp37 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00929:Usp37
|
APN |
1 |
74,529,313 (GRCm39) |
missense |
probably benign |
0.05 |
IGL00961:Usp37
|
APN |
1 |
74,529,314 (GRCm39) |
missense |
probably benign |
|
IGL01089:Usp37
|
APN |
1 |
74,532,205 (GRCm39) |
nonsense |
probably null |
|
IGL01348:Usp37
|
APN |
1 |
74,500,861 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01609:Usp37
|
APN |
1 |
74,514,199 (GRCm39) |
missense |
probably benign |
0.02 |
PIT4544001:Usp37
|
UTSW |
1 |
74,509,738 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0331:Usp37
|
UTSW |
1 |
74,493,223 (GRCm39) |
nonsense |
probably null |
|
R0332:Usp37
|
UTSW |
1 |
74,534,869 (GRCm39) |
missense |
possibly damaging |
0.47 |
R0418:Usp37
|
UTSW |
1 |
74,529,266 (GRCm39) |
missense |
probably benign |
0.01 |
R0456:Usp37
|
UTSW |
1 |
74,507,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R1605:Usp37
|
UTSW |
1 |
74,532,163 (GRCm39) |
missense |
possibly damaging |
0.59 |
R1756:Usp37
|
UTSW |
1 |
74,518,814 (GRCm39) |
missense |
probably benign |
0.20 |
R1971:Usp37
|
UTSW |
1 |
74,479,127 (GRCm39) |
nonsense |
probably null |
|
R2061:Usp37
|
UTSW |
1 |
74,507,431 (GRCm39) |
missense |
probably damaging |
1.00 |
R2130:Usp37
|
UTSW |
1 |
74,500,815 (GRCm39) |
missense |
probably damaging |
1.00 |
R2215:Usp37
|
UTSW |
1 |
74,483,685 (GRCm39) |
missense |
probably damaging |
1.00 |
R2867:Usp37
|
UTSW |
1 |
74,489,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R2867:Usp37
|
UTSW |
1 |
74,489,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R3716:Usp37
|
UTSW |
1 |
74,532,145 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5077:Usp37
|
UTSW |
1 |
74,480,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R5635:Usp37
|
UTSW |
1 |
74,534,970 (GRCm39) |
start gained |
probably benign |
|
R5933:Usp37
|
UTSW |
1 |
74,525,141 (GRCm39) |
missense |
probably damaging |
0.98 |
R6048:Usp37
|
UTSW |
1 |
74,517,295 (GRCm39) |
splice site |
probably null |
|
R6169:Usp37
|
UTSW |
1 |
74,534,910 (GRCm39) |
missense |
probably damaging |
0.99 |
R6193:Usp37
|
UTSW |
1 |
74,532,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R6235:Usp37
|
UTSW |
1 |
74,514,292 (GRCm39) |
nonsense |
probably null |
|
R6361:Usp37
|
UTSW |
1 |
74,493,052 (GRCm39) |
missense |
probably benign |
0.06 |
R6572:Usp37
|
UTSW |
1 |
74,534,941 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6759:Usp37
|
UTSW |
1 |
74,534,908 (GRCm39) |
nonsense |
probably null |
|
R6997:Usp37
|
UTSW |
1 |
74,493,118 (GRCm39) |
missense |
probably benign |
0.01 |
R7471:Usp37
|
UTSW |
1 |
74,534,787 (GRCm39) |
critical splice donor site |
probably null |
|
R7632:Usp37
|
UTSW |
1 |
74,507,533 (GRCm39) |
missense |
probably benign |
0.04 |
R7691:Usp37
|
UTSW |
1 |
74,525,919 (GRCm39) |
frame shift |
probably null |
|
R8954:Usp37
|
UTSW |
1 |
74,514,143 (GRCm39) |
critical splice donor site |
probably null |
|
R9280:Usp37
|
UTSW |
1 |
74,489,699 (GRCm39) |
missense |
probably damaging |
0.98 |
R9484:Usp37
|
UTSW |
1 |
74,499,081 (GRCm39) |
missense |
probably damaging |
1.00 |
RF017:Usp37
|
UTSW |
1 |
74,509,849 (GRCm39) |
missense |
probably damaging |
1.00 |
X0058:Usp37
|
UTSW |
1 |
74,493,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGTTACACAGTTAAGGCTG -3'
(R):5'- CAGGTACCTTTCGACTTCTAGGTG -3'
Sequencing Primer
(F):5'- CACAGTTAAGGCTGTTTCAAAATCC -3'
(R):5'- TGAATCACGGTTGTATAAGACACAG -3'
|
Posted On |
2016-12-20 |