Incidental Mutation 'R2867:Usp37'
ID |
266376 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp37
|
Ensembl Gene |
ENSMUSG00000033364 |
Gene Name |
ubiquitin specific peptidase 37 |
Synonyms |
C330008N13Rik, 4932415L06Rik |
MMRRC Submission |
040456-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2867 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
74474670-74583443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 74489691 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 808
(D808E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035445
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044260]
[ENSMUST00000189257]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044260
AA Change: D808E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000035445 Gene: ENSMUSG00000033364 AA Change: D808E
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 |
possibly damaging
Transcript: ENSMUST00000189257
AA Change: D830E
PolyPhen 2
Score 0.496 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140670 Gene: ENSMUSG00000033364 AA Change: D830E
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
|
Meta Mutation Damage Score |
0.0628 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (30/31) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adss2 |
T |
C |
1: 177,595,378 (GRCm39) |
|
probably null |
Het |
Arid3c |
T |
C |
4: 41,725,958 (GRCm39) |
D215G |
probably damaging |
Het |
Birc2 |
A |
C |
9: 7,834,478 (GRCm39) |
M1R |
probably null |
Het |
Caprin2 |
G |
A |
6: 148,747,738 (GRCm39) |
|
silent |
Het |
Cog4 |
C |
A |
8: 111,593,291 (GRCm39) |
|
probably benign |
Het |
Cpz |
T |
C |
5: 35,659,705 (GRCm39) |
K647E |
probably benign |
Het |
Ctnna2 |
T |
C |
6: 77,091,905 (GRCm39) |
|
probably benign |
Het |
Cyp7a1 |
T |
C |
4: 6,272,493 (GRCm39) |
E240G |
probably damaging |
Het |
Dnaaf11 |
A |
T |
15: 66,310,257 (GRCm39) |
L337* |
probably null |
Het |
Efhc2 |
A |
T |
X: 17,027,484 (GRCm39) |
|
probably benign |
Homo |
Epha6 |
T |
C |
16: 59,780,659 (GRCm39) |
|
probably null |
Het |
Evc |
T |
A |
5: 37,473,619 (GRCm39) |
|
probably benign |
Het |
Fbf1 |
A |
G |
11: 116,052,274 (GRCm39) |
|
probably benign |
Het |
Grin2b |
A |
G |
6: 135,710,637 (GRCm39) |
F970L |
probably damaging |
Het |
Gtf3c4 |
A |
G |
2: 28,729,916 (GRCm39) |
|
probably benign |
Het |
Kcnma1 |
A |
T |
14: 23,423,275 (GRCm39) |
N682K |
probably benign |
Het |
Kif20b |
A |
G |
19: 34,917,528 (GRCm39) |
E631G |
probably damaging |
Het |
Lctl |
T |
C |
9: 64,045,150 (GRCm39) |
S550P |
probably benign |
Het |
Mapk10 |
C |
T |
5: 103,186,548 (GRCm39) |
D25N |
probably benign |
Het |
Mgst2 |
A |
G |
3: 51,571,954 (GRCm39) |
|
silent |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
N4bp1 |
T |
C |
8: 87,588,033 (GRCm39) |
N302D |
probably benign |
Het |
Pcdh7 |
A |
T |
5: 57,879,236 (GRCm39) |
K930N |
probably damaging |
Het |
Pramel16 |
T |
A |
4: 143,675,456 (GRCm39) |
I457L |
probably benign |
Het |
Proca1 |
A |
T |
11: 78,095,806 (GRCm39) |
N146I |
probably damaging |
Het |
RP23-211L5.9 |
T |
C |
6: 68,872,634 (GRCm39) |
|
probably null |
Het |
Ryr2 |
A |
T |
13: 11,776,235 (GRCm39) |
W1101R |
probably damaging |
Het |
Slc35d3 |
T |
C |
10: 19,725,209 (GRCm39) |
T216A |
probably benign |
Het |
Terb1 |
C |
T |
8: 105,174,485 (GRCm39) |
|
probably benign |
Het |
Thnsl2 |
C |
A |
6: 71,108,945 (GRCm39) |
D289Y |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,259 (GRCm39) |
N59D |
possibly damaging |
Het |
Togaram2 |
T |
C |
17: 72,016,592 (GRCm39) |
S649P |
probably benign |
Het |
Tradd |
G |
T |
8: 105,986,145 (GRCm39) |
F182L |
probably benign |
Het |
Trav17 |
A |
T |
14: 54,044,383 (GRCm39) |
Y50F |
probably benign |
Het |
Usp42 |
G |
A |
5: 143,701,219 (GRCm39) |
P935S |
possibly damaging |
Het |
Vmn2r23 |
A |
G |
6: 123,690,123 (GRCm39) |
D333G |
possibly damaging |
Het |
Zfpm2 |
C |
T |
15: 40,962,785 (GRCm39) |
A149V |
probably benign |
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 |
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 |
|
R5826:Usp37
|
UTSW |
1 |
74,509,785 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- GGCTCTCAACTCAATTCCTAAGAG -3'
(R):5'- CCCAACGTTATGTTTTAAGAGGAC -3'
Sequencing Primer
(F):5'- TGATCTTAGCACTCAGGAGGATC -3'
(R):5'- CAGTGTTGAAAAGAAACAAGCTTC -3'
|
Posted On |
2015-02-18 |