Incidental Mutation 'IGL01609:Usp37'
| ID |
91904 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp37
|
| Ensembl Gene |
ENSMUSG00000033364 |
| Gene Name |
ubiquitin specific peptidase 37 |
| Synonyms |
C330008N13Rik, 4932415L06Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01609
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74474670-74583443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74514199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 324
(A324V)
|
| 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: A324V
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364
AA Change: A324V
| 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 |
probably benign
Transcript: ENSMUST00000189257
AA Change: A324V
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
AA Change: A324V
| 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 |
|
| 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 |
|---|
| Ablim3 |
A |
G |
18: 61,955,092 (GRCm39) |
V299A |
probably benign |
Het |
| Actr5 |
T |
C |
2: 158,478,722 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
G |
10: 26,756,744 (GRCm39) |
D448G |
possibly damaging |
Het |
| Bcl9 |
T |
C |
3: 97,116,291 (GRCm39) |
E801G |
probably benign |
Het |
| Bin1 |
A |
G |
18: 32,552,978 (GRCm39) |
N232S |
probably damaging |
Het |
| Brf1 |
A |
C |
12: 112,927,211 (GRCm39) |
Y459D |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,659,541 (GRCm39) |
I772F |
probably damaging |
Het |
| Cyp2a4 |
G |
A |
7: 26,008,088 (GRCm39) |
|
probably null |
Het |
| Dync1i2 |
T |
A |
2: 71,077,352 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,333 (GRCm39) |
M542K |
probably benign |
Het |
| Gpbp1 |
T |
C |
13: 111,575,736 (GRCm39) |
T256A |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
| Igkv3-12 |
A |
G |
6: 70,495,232 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,714 (GRCm39) |
V48A |
probably damaging |
Het |
| Lama2 |
T |
C |
10: 27,220,417 (GRCm39) |
S483G |
probably benign |
Het |
| Lbp |
A |
C |
2: 158,170,332 (GRCm39) |
Q464P |
probably damaging |
Het |
| Lipo4 |
T |
C |
19: 33,476,654 (GRCm39) |
T365A |
probably benign |
Het |
| Mark3 |
T |
C |
12: 111,593,956 (GRCm39) |
F274S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,884,904 (GRCm39) |
|
probably benign |
Het |
| Mrpl9 |
T |
A |
3: 94,352,001 (GRCm39) |
F137I |
probably damaging |
Het |
| Msh4 |
G |
T |
3: 153,603,034 (GRCm39) |
A93E |
probably damaging |
Het |
| Mthfd1l |
T |
A |
10: 3,968,567 (GRCm39) |
D407E |
probably benign |
Het |
| Or10j7 |
G |
A |
1: 173,011,843 (GRCm39) |
H53Y |
probably benign |
Het |
| Or12d12 |
C |
T |
17: 37,610,629 (GRCm39) |
R228H |
probably benign |
Het |
| Or1i2 |
A |
C |
10: 78,447,960 (GRCm39) |
S172A |
probably benign |
Het |
| Pcsk2 |
G |
T |
2: 143,643,078 (GRCm39) |
V452L |
possibly damaging |
Het |
| Pcsk6 |
G |
A |
7: 65,685,021 (GRCm39) |
|
probably null |
Het |
| Pmfbp1 |
A |
G |
8: 110,254,348 (GRCm39) |
E461G |
probably benign |
Het |
| Pole2 |
A |
G |
12: 69,254,631 (GRCm39) |
|
probably null |
Het |
| Postn |
T |
C |
3: 54,276,649 (GRCm39) |
M176T |
probably damaging |
Het |
| Prss12 |
T |
A |
3: 123,276,483 (GRCm39) |
C371S |
probably damaging |
Het |
| Rnf11 |
T |
A |
4: 109,314,173 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Rrad |
A |
G |
8: 105,356,456 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,957,570 (GRCm39) |
I401F |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,544,749 (GRCm39) |
|
probably benign |
Het |
| Tmem45a |
A |
G |
16: 56,631,928 (GRCm39) |
I230T |
probably benign |
Het |
| Tnni1 |
C |
A |
1: 135,733,234 (GRCm39) |
|
probably null |
Het |
| Trpa1 |
A |
T |
1: 14,982,607 (GRCm39) |
I83N |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,221,555 (GRCm39) |
Y54C |
probably damaging |
Het |
| Umodl1 |
C |
T |
17: 31,217,800 (GRCm39) |
T1202I |
possibly damaging |
Het |
| Unc93a2 |
A |
G |
17: 7,637,138 (GRCm39) |
V130A |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,321,023 (GRCm39) |
C751S |
probably 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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation