Incidental Mutation 'IGL00671:Zmpste24'
| ID |
15036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zmpste24
|
| Ensembl Gene |
ENSMUSG00000043207 |
| Gene Name |
zinc metallopeptidase, STE24 |
| Synonyms |
A530043O15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.373)
|
| Stock # |
IGL00671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120916434-120955438 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 120940012 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157543
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,980,745 (GRCm39) |
R576* |
probably null |
Het |
| Astl |
T |
C |
2: 127,185,941 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
T |
C |
1: 5,194,694 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
A |
T |
10: 122,285,256 (GRCm39) |
I183L |
probably benign |
Het |
| Cep83 |
A |
G |
10: 94,625,626 (GRCm39) |
T679A |
possibly damaging |
Het |
| Dennd1b |
A |
T |
1: 139,061,475 (GRCm39) |
I386F |
possibly damaging |
Het |
| Dnaaf6rt |
G |
A |
1: 31,262,053 (GRCm39) |
V12I |
probably benign |
Het |
| Ect2 |
T |
C |
3: 27,192,818 (GRCm39) |
N344S |
probably benign |
Het |
| Ghrh |
G |
A |
2: 157,175,389 (GRCm39) |
H31Y |
probably benign |
Het |
| Gpc6 |
A |
T |
14: 117,424,199 (GRCm39) |
T96S |
probably benign |
Het |
| Man2b1 |
A |
C |
8: 85,820,567 (GRCm39) |
D618A |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,084,183 (GRCm39) |
E1602G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,411,067 (GRCm39) |
I175N |
probably damaging |
Het |
| Oga |
C |
A |
19: 45,753,979 (GRCm39) |
A632S |
possibly damaging |
Het |
| Otof |
C |
T |
5: 30,543,097 (GRCm39) |
|
probably null |
Het |
| Otop2 |
A |
G |
11: 115,222,735 (GRCm39) |
N539S |
probably damaging |
Het |
| Ralbp1 |
T |
A |
17: 66,171,607 (GRCm39) |
E122V |
possibly damaging |
Het |
| Spata31e2 |
A |
T |
1: 26,723,940 (GRCm39) |
S413R |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,400 (GRCm39) |
N450I |
probably damaging |
Het |
| Tle3 |
T |
A |
9: 61,319,652 (GRCm39) |
N492K |
probably damaging |
Het |
| Ttll8 |
T |
C |
15: 88,798,356 (GRCm39) |
D793G |
probably benign |
Het |
| Uggt2 |
T |
C |
14: 119,280,211 (GRCm39) |
T756A |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,411,084 (GRCm39) |
H96R |
probably damaging |
Het |
| Zfp617 |
C |
T |
8: 72,686,386 (GRCm39) |
R239* |
probably null |
Het |
|
| Other mutations in Zmpste24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
2012-12-06 |
Incidental Mutation