Incidental Mutation 'R0097:Zmpste24'
| ID |
17169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmpste24
|
| Ensembl Gene |
ENSMUSG00000043207 |
| Gene Name |
zinc metallopeptidase, STE24 |
| Synonyms |
A530043O15Rik |
| MMRRC Submission |
038383-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.373)
|
| Stock # |
R0097 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
120916434-120955438 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 120952740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122588
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058754]
[ENSMUST00000135788]
|
| AlphaFold |
Q80W54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058754
|
| SMART Domains |
Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M48_N
|
41 |
225 |
2.5e-70 |
PFAM |
|
Pfam:Peptidase_M48
|
228 |
473 |
5.5e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135788
|
| SMART Domains |
Protein: ENSMUSP00000122588
Gene: ENSMUSG00000043207
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2YPT|E
|
1 |
146 |
5e-58 |
PDB |
|
| Coding Region Coverage |
- 1x: 89.4%
- 3x: 86.4%
- 10x: 78.0%
- 20x: 64.9%
|
| Validation Efficiency |
86% (56/65) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants are deficient in proteolytic processing of prelamin A and display many abnormalities including retarded growth, bone fragility, hair loss, cardiomyopathy, muscular dystrophy and lipodystrophy. Most die prematurely, but some survive and reproduce. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,206,129 (GRCm39) |
I353K |
probably benign |
Het |
| Albfm1 |
T |
A |
5: 90,732,795 (GRCm39) |
S535R |
probably benign |
Het |
| Arfgap2 |
T |
A |
2: 91,105,160 (GRCm39) |
V422E |
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,227,113 (GRCm39) |
S105P |
probably benign |
Het |
| Cacna1s |
T |
A |
1: 136,028,360 (GRCm39) |
M899K |
possibly damaging |
Het |
| Ccnd2 |
G |
A |
6: 127,123,015 (GRCm39) |
A180V |
probably benign |
Het |
| Ciao3 |
T |
C |
17: 25,995,976 (GRCm39) |
S67P |
possibly damaging |
Het |
| Dmrta1 |
A |
T |
4: 89,577,109 (GRCm39) |
R188S |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,914,015 (GRCm39) |
F465L |
probably benign |
Het |
| Gm9938 |
T |
A |
19: 23,701,828 (GRCm39) |
|
probably benign |
Het |
| Gpr87 |
G |
A |
3: 59,086,506 (GRCm39) |
T333I |
probably damaging |
Het |
| Lzic |
A |
G |
4: 149,572,533 (GRCm39) |
E41G |
probably damaging |
Het |
| Mprip |
T |
A |
11: 59,649,317 (GRCm39) |
L1007Q |
possibly damaging |
Het |
| Mtfr2 |
T |
A |
10: 20,224,122 (GRCm39) |
S19T |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,393,198 (GRCm39) |
M3121K |
probably damaging |
Het |
| Myocd |
T |
A |
11: 65,069,840 (GRCm39) |
M667L |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,094,906 (GRCm39) |
N4882S |
probably damaging |
Het |
| Neo1 |
T |
C |
9: 58,882,021 (GRCm38) |
|
probably benign |
Het |
| Neu2 |
A |
G |
1: 87,525,188 (GRCm39) |
D391G |
probably benign |
Het |
| Nol4 |
C |
A |
18: 22,852,198 (GRCm39) |
A456S |
probably benign |
Het |
| Or5m13 |
T |
C |
2: 85,749,184 (GRCm39) |
V305A |
probably benign |
Het |
| Padi6 |
C |
T |
4: 140,458,268 (GRCm39) |
V513M |
probably benign |
Het |
| Prss38 |
A |
G |
11: 59,266,434 (GRCm39) |
L8S |
possibly damaging |
Het |
| Rab5b |
A |
T |
10: 128,518,809 (GRCm39) |
F108I |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,630,400 (GRCm39) |
D2157G |
probably damaging |
Het |
| Secisbp2l |
T |
C |
2: 125,613,376 (GRCm39) |
D206G |
probably damaging |
Het |
| Sh3pxd2b |
T |
A |
11: 32,353,978 (GRCm39) |
I182N |
probably damaging |
Het |
| Slc3a1 |
A |
T |
17: 85,340,288 (GRCm39) |
I237F |
probably damaging |
Het |
| St6galnac6 |
T |
C |
2: 32,489,814 (GRCm39) |
L8P |
probably damaging |
Het |
| T |
A |
T |
17: 8,658,733 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,542,133 (GRCm39) |
D1882V |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,403,451 (GRCm39) |
L283* |
probably null |
Het |
| Ubp1 |
T |
C |
9: 113,802,575 (GRCm39) |
|
probably benign |
Het |
| Ushbp1 |
C |
T |
8: 71,843,357 (GRCm39) |
C314Y |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,189,374 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,625 (GRCm39) |
M298V |
probably benign |
Het |
|
| Other mutations in Zmpste24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00671:Zmpste24
|
APN |
4 |
120,940,012 (GRCm39) |
unclassified |
probably benign |
|
|
IGL00672:Zmpste24
|
APN |
4 |
120,923,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00828:Zmpste24
|
APN |
4 |
120,931,717 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01731:Zmpste24
|
APN |
4 |
120,955,081 (GRCm39) |
missense |
probably benign |
|
|
IGL01738:Zmpste24
|
APN |
4 |
120,918,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02668:Zmpste24
|
APN |
4 |
120,918,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0097:Zmpste24
|
UTSW |
4 |
120,952,740 (GRCm39) |
splice site |
probably benign |
|
|
R0226:Zmpste24
|
UTSW |
4 |
120,938,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0277:Zmpste24
|
UTSW |
4 |
120,940,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0323:Zmpste24
|
UTSW |
4 |
120,940,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Zmpste24
|
UTSW |
4 |
120,944,513 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2233:Zmpste24
|
UTSW |
4 |
120,955,162 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2374:Zmpste24
|
UTSW |
4 |
120,931,734 (GRCm39) |
missense |
probably benign |
|
|
R3683:Zmpste24
|
UTSW |
4 |
120,918,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Zmpste24
|
UTSW |
4 |
120,918,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Zmpste24
|
UTSW |
4 |
120,925,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5650:Zmpste24
|
UTSW |
4 |
120,940,074 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5709:Zmpste24
|
UTSW |
4 |
120,923,075 (GRCm39) |
missense |
probably benign |
|
|
R6429:Zmpste24
|
UTSW |
4 |
120,952,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7165:Zmpste24
|
UTSW |
4 |
120,940,091 (GRCm39) |
missense |
probably null |
1.00 |
|
R7353:Zmpste24
|
UTSW |
4 |
120,952,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7498:Zmpste24
|
UTSW |
4 |
120,940,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8416:Zmpste24
|
UTSW |
4 |
120,940,556 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8958:Zmpste24
|
UTSW |
4 |
120,944,508 (GRCm39) |
nonsense |
probably null |
|
|
R9138:Zmpste24
|
UTSW |
4 |
120,923,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-01-20 |
Incidental Mutation