Incidental Mutation 'R6361:Usp37'
| ID |
513105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp37
|
| Ensembl Gene |
ENSMUSG00000033364 |
| Gene Name |
ubiquitin specific peptidase 37 |
| Synonyms |
C330008N13Rik, 4932415L06Rik |
| MMRRC Submission |
044511-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6361 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74474670-74583443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74493052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 723
(I723T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035445
(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: I723T
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364
AA Change: I723T
| 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 benign
Transcript: ENSMUST00000189257
AA Change: I745T
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
AA Change: I745T
| 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 |
0.1007 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (43/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap1 |
C |
T |
15: 64,221,672 (GRCm39) |
|
probably null |
Het |
| Cabin1 |
G |
A |
10: 75,562,699 (GRCm39) |
A29V |
possibly damaging |
Het |
| Cadps |
G |
A |
14: 12,491,778 (GRCm38) |
Q791* |
probably null |
Het |
| Cdc14b |
T |
C |
13: 64,364,023 (GRCm39) |
|
probably null |
Het |
| Cep89 |
C |
T |
7: 35,097,472 (GRCm39) |
P33S |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,807,661 (GRCm39) |
|
probably benign |
Het |
| Cln5 |
T |
A |
14: 103,313,637 (GRCm39) |
D296E |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,943,902 (GRCm39) |
S1191T |
probably benign |
Het |
| Crispld1 |
A |
G |
1: 17,832,455 (GRCm39) |
I480M |
probably damaging |
Het |
| Dhrs7 |
A |
C |
12: 72,711,433 (GRCm39) |
L32V |
probably damaging |
Het |
| Dscam |
T |
C |
16: 96,424,011 (GRCm39) |
T1645A |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,885,622 (GRCm39) |
T55A |
possibly damaging |
Het |
| Ercc6 |
T |
C |
14: 32,239,067 (GRCm39) |
Y52H |
probably benign |
Het |
| Fam170b |
C |
A |
14: 32,558,028 (GRCm39) |
Q288K |
unknown |
Het |
| Flt4 |
A |
G |
11: 49,521,405 (GRCm39) |
T442A |
probably benign |
Het |
| Gm19402 |
A |
T |
10: 77,525,895 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,403,832 (GRCm39) |
I87T |
probably damaging |
Het |
| Hspb7 |
A |
G |
4: 141,149,860 (GRCm39) |
E82G |
possibly damaging |
Het |
| Itgb3 |
A |
G |
11: 104,556,408 (GRCm39) |
K750E |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,679,655 (GRCm39) |
M155V |
probably benign |
Het |
| Marchf8 |
A |
T |
6: 116,379,062 (GRCm39) |
D332V |
probably null |
Het |
| Mst1r |
A |
G |
9: 107,793,052 (GRCm39) |
M1042V |
probably benign |
Het |
| Muc4 |
T |
C |
16: 32,587,725 (GRCm39) |
F2756L |
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,333,078 (GRCm39) |
K55* |
probably null |
Het |
| Or1j19 |
A |
G |
2: 36,676,792 (GRCm39) |
N85S |
probably damaging |
Het |
| Or4c123 |
A |
T |
2: 89,126,990 (GRCm39) |
I208N |
probably damaging |
Het |
| Or4k51 |
G |
T |
2: 111,584,940 (GRCm39) |
L115F |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,027 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g50 |
A |
C |
9: 39,648,968 (GRCm39) |
N286H |
probably damaging |
Het |
| Pcca |
A |
G |
14: 122,875,794 (GRCm39) |
D141G |
probably benign |
Het |
| Pkd2 |
C |
T |
5: 104,634,546 (GRCm39) |
R526* |
probably null |
Het |
| Polr2a |
C |
A |
11: 69,634,163 (GRCm39) |
A756S |
probably damaging |
Het |
| Prkd2 |
T |
C |
7: 16,581,579 (GRCm39) |
S145P |
probably damaging |
Het |
| Rhbdf1 |
T |
C |
11: 32,162,915 (GRCm39) |
N451D |
possibly damaging |
Het |
| Rundc3a |
G |
A |
11: 102,291,621 (GRCm39) |
R358Q |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,972,695 (GRCm39) |
D676V |
probably benign |
Het |
| Spef1l |
T |
A |
7: 139,556,585 (GRCm39) |
D134V |
possibly damaging |
Het |
| Tbc1d4 |
T |
C |
14: 101,744,610 (GRCm39) |
K339E |
probably damaging |
Het |
| Vwa2 |
A |
T |
19: 56,889,958 (GRCm39) |
|
probably null |
Het |
| Zdbf2 |
A |
C |
1: 63,342,480 (GRCm39) |
R286S |
possibly damaging |
Het |
| Zfp422 |
G |
A |
6: 116,603,781 (GRCm39) |
H73Y |
probably damaging |
Het |
| Zfp868 |
T |
C |
8: 70,064,564 (GRCm39) |
H257R |
probably damaging |
Het |
| Zzef1 |
A |
G |
11: 72,775,175 (GRCm39) |
S1723G |
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 |
|
|
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 |
|
|
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'- ATTAAGACGCTCTGACTCCAC -3'
(R):5'- ATTGTGCAGATTAGAGCCTGGG -3'
Sequencing Primer
(F):5'- GCTCTATGACTTCCATGTCCAAATG -3'
(R):5'- CCTGGGAAGGCAGAACTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation