Incidental Mutation 'R6572:Usp37'
| ID |
526253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp37
|
| Ensembl Gene |
ENSMUSG00000033364 |
| Gene Name |
ubiquitin specific peptidase 37 |
| Synonyms |
C330008N13Rik, 4932415L06Rik |
| MMRRC Submission |
044696-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6572 (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 74534941 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 2
(S2P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140670
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044260]
[ENSMUST00000186282]
[ENSMUST00000189257]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044260
AA Change: S2P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035445
Gene: ENSMUSG00000033364
AA Change: S2P
| 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 |
possibly damaging
Transcript: ENSMUST00000186282
AA Change: S2P
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187590
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189257
AA Change: S2P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140670
Gene: ENSMUSG00000033364
AA Change: S2P
| 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: ENSMUST00000190592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191058
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195478
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (62/64) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
T |
15: 37,425,961 (GRCm39) |
Q34* |
probably null |
Het |
| Adamts3 |
T |
A |
5: 90,009,468 (GRCm39) |
H65L |
possibly damaging |
Het |
| Ago2 |
A |
G |
15: 72,998,826 (GRCm39) |
V257A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,985,340 (GRCm39) |
K2208R |
probably damaging |
Het |
| Apc2 |
C |
T |
10: 80,147,613 (GRCm39) |
S860L |
probably damaging |
Het |
| Arhgap18 |
A |
G |
10: 26,722,412 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
T |
C |
7: 30,226,635 (GRCm39) |
E524G |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,566,343 (GRCm39) |
Q763* |
probably null |
Het |
| Atg2a |
T |
C |
19: 6,304,695 (GRCm39) |
L1184P |
probably damaging |
Het |
| Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
| Btbd17 |
A |
T |
11: 114,683,046 (GRCm39) |
L222Q |
probably damaging |
Het |
| Chst13 |
G |
T |
6: 90,286,588 (GRCm39) |
R125S |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracr2a |
T |
C |
6: 127,585,715 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
A |
7: 105,408,013 (GRCm39) |
T1940S |
possibly damaging |
Het |
| Ddit4l |
G |
T |
3: 137,332,111 (GRCm39) |
R159L |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,866,674 (GRCm39) |
Y679H |
probably damaging |
Het |
| Dyrk4 |
T |
G |
6: 126,874,201 (GRCm39) |
I130L |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Ephb1 |
A |
G |
9: 101,944,097 (GRCm39) |
F312L |
probably benign |
Het |
| Fndc9 |
A |
T |
11: 46,128,708 (GRCm39) |
I76F |
probably damaging |
Het |
| Frk |
G |
A |
10: 34,459,963 (GRCm39) |
R186K |
probably benign |
Het |
| Gpatch3 |
G |
T |
4: 133,302,191 (GRCm39) |
G41C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,522,131 (GRCm39) |
H633Q |
probably benign |
Het |
| Gstt4 |
T |
A |
10: 75,650,954 (GRCm39) |
T223S |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,318,739 (GRCm39) |
E60K |
probably benign |
Het |
| Inpp5d |
C |
T |
1: 87,623,118 (GRCm39) |
P403S |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,629,159 (GRCm39) |
I189K |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,702,579 (GRCm39) |
H239L |
possibly damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,887,312 (GRCm39) |
D344G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,168,859 (GRCm39) |
I1892T |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 86,397,033 (GRCm39) |
I73N |
possibly damaging |
Het |
| Nipal3 |
A |
T |
4: 135,174,564 (GRCm39) |
S396T |
probably benign |
Het |
| Or1e35 |
A |
G |
11: 73,797,629 (GRCm39) |
S230P |
possibly damaging |
Het |
| Or51q1c |
T |
A |
7: 103,648,391 (GRCm39) |
|
probably null |
Het |
| Phf20l1 |
T |
A |
15: 66,481,396 (GRCm39) |
V264D |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,230,190 (GRCm39) |
Y319C |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,824 (GRCm39) |
Y608H |
probably damaging |
Het |
| Ppard |
G |
T |
17: 28,516,093 (GRCm39) |
E106* |
probably null |
Het |
| Pramel11 |
C |
T |
4: 143,621,943 (GRCm39) |
V471I |
possibly damaging |
Het |
| Pramel16 |
A |
G |
4: 143,676,262 (GRCm39) |
S281P |
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,773 (GRCm39) |
T48A |
probably benign |
Het |
| Ralgps2 |
A |
T |
1: 156,651,620 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
T |
A |
16: 97,547,105 (GRCm39) |
R323* |
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scgb2b24 |
T |
A |
7: 33,437,902 (GRCm39) |
E68D |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,063,706 (GRCm39) |
D2334G |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,643 (GRCm39) |
D497G |
possibly damaging |
Het |
| Smarca2 |
A |
T |
19: 26,656,573 (GRCm39) |
I850F |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,202,396 (GRCm39) |
Y270H |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,730,380 (GRCm39) |
|
probably null |
Het |
| Srms |
T |
C |
2: 180,854,450 (GRCm39) |
D39G |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,739,213 (GRCm39) |
I528N |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,505,134 (GRCm39) |
I691V |
probably benign |
Het |
| Urb1 |
A |
C |
16: 90,584,302 (GRCm39) |
V560G |
probably benign |
Het |
| Vmn1r60 |
G |
A |
7: 5,547,599 (GRCm39) |
S167F |
probably benign |
Het |
| Vmn2r89 |
G |
A |
14: 51,693,450 (GRCm39) |
V267I |
probably damaging |
Het |
| Washc3 |
T |
A |
10: 88,049,568 (GRCm39) |
D63E |
probably benign |
Het |
| Wdr89 |
A |
G |
12: 75,680,159 (GRCm39) |
S32P |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,455,313 (GRCm39) |
S504P |
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 |
|
|
R6361:Usp37
|
UTSW |
1 |
74,493,052 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- AAGTCAGATCACCCTGATGTGTG -3'
(R):5'- CTTCCGGTATGAGGATGCAG -3'
Sequencing Primer
(F):5'- GGAATATAATCCACGGTTCTGAGCAC -3'
(R):5'- AGGATGCAGAGGTAAAAGATTTATTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation