Incidental Mutation 'IGL00828:Zmpste24'
| ID |
15038 |
| 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: 0.374)
|
| Stock # |
IGL00828
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
120916434-120955438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120931717 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 303
(R303C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053900
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058754]
|
| AlphaFold |
Q80W54 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058754
AA Change: R303C
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: R303C
| 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 |
noncoding transcript
Transcript: ENSMUST00000143768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157689
|
| 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: 10 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
A |
1: 25,527,200 (GRCm39) |
I372F |
possibly damaging |
Het |
| Dcaf6 |
G |
A |
1: 165,165,916 (GRCm39) |
|
probably benign |
Het |
| Dph7 |
A |
T |
2: 24,861,655 (GRCm39) |
Q356L |
probably benign |
Het |
| Gpr107 |
A |
T |
2: 31,067,795 (GRCm39) |
|
probably null |
Het |
| Kmt2a |
T |
C |
9: 44,732,073 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,481,845 (GRCm39) |
Y816N |
probably damaging |
Het |
| Slc17a5 |
G |
A |
9: 78,485,833 (GRCm39) |
A84V |
probably benign |
Het |
| Trim6 |
A |
G |
7: 103,879,950 (GRCm39) |
T230A |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,906,028 (GRCm39) |
|
probably benign |
Het |
| Zfp980 |
A |
T |
4: 145,428,561 (GRCm39) |
H430L |
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 |
|
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