Incidental Mutation 'R5709:Zmpste24'
ID |
452127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmpste24
|
Ensembl Gene |
ENSMUSG00000043207 |
Gene Name |
zinc metallopeptidase, STE24 |
Synonyms |
A530043O15Rik |
MMRRC Submission |
043184-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.374)
|
Stock # |
R5709 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
120916434-120955438 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120923075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 380
(D380G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058754]
|
AlphaFold |
Q80W54 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000058754
AA Change: D380G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000053900 Gene: ENSMUSG00000043207 AA Change: D380G
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
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
Inhbb |
T |
A |
1: 119,345,260 (GRCm39) |
Y343F |
probably damaging |
Het |
Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
Rcn1 |
T |
C |
2: 105,225,128 (GRCm39) |
Y109C |
probably damaging |
Het |
Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
Rtkn2 |
T |
A |
10: 67,837,800 (GRCm39) |
N117K |
probably benign |
Het |
Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
Shb |
T |
C |
4: 45,458,327 (GRCm39) |
E279G |
probably damaging |
Het |
Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
Sohlh2 |
T |
C |
3: 55,099,723 (GRCm39) |
L165P |
probably benign |
Het |
Spred2 |
T |
C |
11: 19,971,415 (GRCm39) |
C428R |
probably damaging |
Het |
Stra8 |
A |
T |
6: 34,904,697 (GRCm39) |
D13V |
possibly damaging |
Het |
Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCAGTGAGGAACTAGAAGATTAT -3'
(R):5'- TATGCTTTGAATGCCTCCTACCA -3'
Sequencing Primer
(F):5'- TACACTACCCCAAAGAGTCT -3'
(R):5'- AGCCTGTGGATCTTGACAC -3'
|
Posted On |
2017-01-03 |