Incidental Mutation 'IGL01738:Zmpste24'
ID |
105775 |
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 # |
IGL01738
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
120916434-120955438 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120918308 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 438
(L438Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058754]
|
AlphaFold |
Q80W54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058754
AA Change: L438Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053900 Gene: ENSMUSG00000043207 AA Change: L438Q
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 |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405L10Rik |
A |
T |
8: 106,436,668 (GRCm39) |
D288V |
probably damaging |
Het |
Agtr1a |
G |
A |
13: 30,565,021 (GRCm39) |
V29I |
probably benign |
Het |
Akap6 |
G |
T |
12: 52,933,600 (GRCm39) |
C364F |
probably damaging |
Het |
Calcrl |
T |
G |
2: 84,200,793 (GRCm39) |
M84L |
probably benign |
Het |
Cep128 |
C |
A |
12: 91,197,616 (GRCm39) |
G402C |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,785,624 (GRCm39) |
L422P |
probably damaging |
Het |
Cnbd2 |
C |
A |
2: 156,217,537 (GRCm39) |
|
probably benign |
Het |
Col27a1 |
A |
G |
4: 63,182,016 (GRCm39) |
|
probably benign |
Het |
Cyp3a44 |
A |
G |
5: 145,731,745 (GRCm39) |
S134P |
probably damaging |
Het |
Dync2h1 |
A |
C |
9: 7,114,922 (GRCm39) |
L179R |
possibly damaging |
Het |
Ell |
T |
A |
8: 71,034,331 (GRCm39) |
|
probably benign |
Het |
Gfm1 |
A |
G |
3: 67,363,994 (GRCm39) |
E490G |
probably benign |
Het |
Glt1d1 |
T |
G |
5: 127,709,419 (GRCm39) |
|
probably benign |
Het |
Gm10267 |
A |
T |
18: 44,292,342 (GRCm39) |
I10K |
possibly damaging |
Het |
Htra4 |
A |
G |
8: 25,515,727 (GRCm39) |
V437A |
probably damaging |
Het |
Ighv1-69 |
T |
C |
12: 115,587,061 (GRCm39) |
Q24R |
possibly damaging |
Het |
Igkv14-111 |
G |
A |
6: 68,233,443 (GRCm39) |
|
probably benign |
Het |
Ipcef1 |
A |
T |
10: 6,840,575 (GRCm39) |
I374N |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,373,648 (GRCm39) |
D1447G |
possibly damaging |
Het |
Mast4 |
A |
G |
13: 102,873,749 (GRCm39) |
F1681S |
probably damaging |
Het |
Mmp3 |
A |
T |
9: 7,446,946 (GRCm39) |
N42I |
possibly damaging |
Het |
Mybpc1 |
G |
T |
10: 88,406,507 (GRCm39) |
F126L |
probably damaging |
Het |
Myo1e |
A |
G |
9: 70,266,652 (GRCm39) |
K631E |
probably damaging |
Het |
Or8b43 |
A |
C |
9: 38,360,942 (GRCm39) |
Y258S |
probably damaging |
Het |
Pcsk5 |
T |
A |
19: 17,411,144 (GRCm39) |
|
probably benign |
Het |
Serpina3b |
T |
G |
12: 104,097,091 (GRCm39) |
L124R |
probably damaging |
Het |
Srgap2 |
T |
C |
1: 131,224,164 (GRCm39) |
I95V |
probably benign |
Het |
Sstr5 |
A |
T |
17: 25,710,584 (GRCm39) |
I215N |
probably damaging |
Het |
Top3b |
G |
A |
16: 16,698,468 (GRCm39) |
V104M |
probably benign |
Het |
Tspan8 |
G |
A |
10: 115,653,570 (GRCm39) |
|
probably null |
Het |
Vmn2r102 |
A |
G |
17: 19,898,020 (GRCm39) |
Y345C |
probably damaging |
Het |
Vmn2r17 |
G |
A |
5: 109,577,364 (GRCm39) |
G472S |
probably damaging |
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 |
|
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 |
2014-01-21 |