Incidental Mutation 'RF017:Usp37'
| ID |
603599 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF017 (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 74509849 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 440
(L440P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140670
(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: L440P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364
AA Change: L440P
| 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 damaging
Transcript: ENSMUST00000189257
AA Change: L440P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
AA Change: L440P
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| Validation Efficiency |
100% (29/29) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahdc1 |
ACCACC |
ACCACCACC |
4: 132,790,062 (GRCm39) |
|
probably benign |
Het |
| Ankhd1 |
GGCGGC |
GGCGGCCGCGGC |
18: 36,693,962 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| AY358078 |
T |
TAGGATAATGA |
14: 52,043,050 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
CCA |
CCAGCA |
10: 4,511,024 (GRCm39) |
|
probably benign |
Het |
| Cfap251 |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
AAGAGGAGGAAGAGGAGGGGGAGAAGGAGGAAAAGGAGAAAGAGGAGGAAGAGGAGGGGGAGAAGGAG |
5: 123,391,953 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
C |
A |
2: 35,065,201 (GRCm39) |
D2168E |
probably damaging |
Het |
| Dab1 |
C |
A |
4: 104,570,849 (GRCm39) |
R195S |
probably benign |
Het |
| Dnmt1 |
AGCACAGTTCCTACCTCGTT |
AGCACAGTTCCTACCTCGTTTTGGGGGCGGCGCACAGTTCCTACCTCGTT |
9: 20,821,422 (GRCm39) |
|
probably null |
Het |
| Elp6 |
A |
T |
9: 110,148,777 (GRCm39) |
H222L |
probably damaging |
Het |
| Entpd2 |
CTT |
CTTT |
2: 25,290,907 (GRCm39) |
|
probably null |
Het |
| Fgf22 |
A |
G |
10: 79,592,680 (GRCm39) |
H125R |
probably benign |
Het |
| Galnt18 |
G |
A |
7: 111,198,221 (GRCm39) |
R180C |
probably damaging |
Het |
| Garin5a |
GTCTGAGGGAGGA |
GTCTGAGGGAGGAAGGCTGGATCCTGGATACCTGGATCTGAGGGAGGA |
7: 44,149,949 (GRCm39) |
|
probably null |
Het |
| Garin5a |
GGGAGGA |
GGGAGGAAGGCTGGATCCTGGATACCTGGGTCTGATGGAGGA |
7: 44,149,955 (GRCm39) |
|
probably null |
Het |
| Gm8369 |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG |
19: 11,489,106 (GRCm39) |
|
probably null |
Het |
| Gpsm1 |
C |
A |
2: 26,214,884 (GRCm39) |
H288Q |
probably damaging |
Het |
| Ipo7 |
A |
G |
7: 109,648,001 (GRCm39) |
I628V |
probably benign |
Het |
| Irag2 |
GCACATTG |
GCACATTGATCACATTG |
6: 145,119,510 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
C |
T |
1: 180,160,887 (GRCm39) |
R338W |
probably damaging |
Het |
| Krtap28-10 |
CACAGC |
CACAGCAACAGC |
1: 83,019,859 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CCACCACAGCCACAG |
CCACCACAGCCACAGTCACCACAGCCACAG |
1: 83,019,987 (GRCm39) |
|
probably benign |
Het |
| Krtap4-2 |
CAGCAGGGGCGGCA |
C |
11: 99,525,543 (GRCm39) |
|
probably null |
Het |
| Krtap4-9 |
TGCTGTGTGTCCAGCTGCTGCAG |
TGCTGTGTGTCCAGCTGCTGCAGGCCCAGCGGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,225 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
G |
T |
13: 9,173,946 (GRCm39) |
G30V |
probably benign |
Het |
| Map1a |
CTCCAGCTCCA |
CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGGTCCAGCTCCA |
2: 121,136,789 (GRCm39) |
|
probably benign |
Het |
| Mccc2 |
A |
C |
13: 100,136,796 (GRCm39) |
V53G |
probably damaging |
Het |
| Meiosin |
T |
C |
7: 18,836,354 (GRCm39) |
N291S |
unknown |
Het |
| Mug1 |
T |
A |
6: 121,861,533 (GRCm39) |
Y1332N |
probably damaging |
Het |
| Nalf2 |
GCCGCC |
GCCGCCACCGCC |
X: 98,864,971 (GRCm39) |
|
probably benign |
Het |
| Ndnf |
A |
G |
6: 65,681,313 (GRCm39) |
T531A |
probably damaging |
Het |
| Ntsr2 |
T |
G |
12: 16,709,766 (GRCm39) |
V349G |
probably damaging |
Het |
| Or2g25 |
A |
T |
17: 37,970,672 (GRCm39) |
I184N |
probably damaging |
Het |
| P2ry14 |
A |
T |
3: 59,022,467 (GRCm39) |
I331N |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,138,577 (GRCm39) |
S69P |
possibly damaging |
Het |
| Ptp4a2 |
A |
G |
4: 129,733,237 (GRCm39) |
|
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,741,446 (GRCm39) |
D2353G |
probably benign |
Het |
| Rasa2 |
GCC |
GCCCCC |
9: 96,513,521 (GRCm39) |
|
probably benign |
Het |
| Raver2 |
A |
T |
4: 100,960,195 (GRCm39) |
D225V |
probably damaging |
Het |
| Rph3a |
A |
T |
5: 121,100,562 (GRCm39) |
|
probably null |
Het |
| Sin3a |
T |
A |
9: 57,034,610 (GRCm39) |
V1261E |
possibly damaging |
Het |
| Slc12a9 |
T |
A |
5: 137,323,812 (GRCm39) |
I368F |
probably damaging |
Het |
| Spaca1 |
CTCGC |
CTCGCTGTCGC |
4: 34,049,853 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
AA |
AACTGTCA |
10: 82,126,826 (GRCm39) |
|
probably benign |
Het |
| Strn |
C |
CCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGTG |
17: 78,984,717 (GRCm39) |
|
probably null |
Het |
| Ush2a |
A |
C |
1: 187,995,666 (GRCm39) |
T146P |
probably damaging |
Het |
| Xpnpep1 |
T |
A |
19: 53,020,491 (GRCm39) |
I24L |
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 |
|
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 |
|
X0058:Usp37
|
UTSW |
1 |
74,493,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGAAATTCTAGTCACTTGCC -3'
(R):5'- AAACCCTTATCAGAATAAGACTGGC -3'
Sequencing Primer
(F):5'- TCTAGTCACTTGCCATAAAGGAAGAG -3'
(R):5'- AAGACTGGCCTTATTCAGGTACC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation