Incidental Mutation 'R7353:Zmpste24'
ID570722
Institutional Source Beutler Lab
Gene Symbol Zmpste24
Ensembl Gene ENSMUSG00000043207
Gene Namezinc metallopeptidase, STE24
SynonymsA530043O15Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.382) question?
Stock #R7353 (G1)
Quality Score225.009
Status Not validated
Chromosome4
Chromosomal Location121059237-121098241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 121095581 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 81 (S81P)
Ref Sequence ENSEMBL: ENSMUSP00000053900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058754] [ENSMUST00000135788]
Predicted Effect probably damaging
Transcript: ENSMUST00000058754
AA Change: S81P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: S81P

DomainStartEndE-ValueType
Pfam:Peptidase_M48_N 41 225 2.5e-70 PFAM
Pfam:Peptidase_M48 228 473 5.5e-75 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000135788
AA Change: S40P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122588
Gene: ENSMUSG00000043207
AA Change: S40P

DomainStartEndE-ValueType
PDB:2YPT|E 1 146 5e-58 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.9%
  • 20x: 99.6%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik C A 13: 119,488,178 A11S unknown Het
Aadacl4 G A 4: 144,617,920 V89I probably damaging Het
Abcc9 T A 6: 142,601,005 I1369F probably damaging Het
Adgrf3 T A 5: 30,198,497 I427F probably damaging Het
Alox12e T C 11: 70,321,435 Y139C probably damaging Het
Arhgef2 T A 3: 88,635,686 V397E possibly damaging Het
Arhgef28 T A 13: 98,075,202 Y91F probably damaging Het
Bcar3 A G 3: 122,512,692 T454A probably benign Het
Bicc1 G T 10: 70,947,900 T469K probably benign Het
Boc C T 16: 44,485,737 V1070M unknown Het
Ccdc88a T A 11: 29,463,368 N635K probably benign Het
Ccr2 T C 9: 124,106,756 S358P probably damaging Het
Ccser2 T C 14: 36,941,143 Q28R possibly damaging Het
Cenpf T A 1: 189,654,138 K1982* probably null Het
Csn1s2a A T 5: 87,785,302 I137F possibly damaging Het
Cttnbp2 A T 6: 18,375,944 I1532K possibly damaging Het
Dnajc13 C A 9: 104,230,031 R304L possibly damaging Het
Dopey1 T A 9: 86,512,859 M664K probably damaging Het
Emilin3 T A 2: 160,908,821 E336V probably damaging Het
Eml5 A G 12: 98,825,424 Y63H Het
Fbxo41 G T 6: 85,479,976 R404S possibly damaging Het
Gm8897 G A 5: 11,416,436 D7N possibly damaging Het
Gpr155 A T 2: 73,367,491 Y456* probably null Het
Gpr156 T A 16: 37,992,161 N286K probably damaging Het
Kcna5 A G 6: 126,534,845 S107P probably benign Het
Kcne2 A T 16: 92,296,822 H79L possibly damaging Het
Kcnh4 T A 11: 100,757,199 M113L probably benign Het
Lad1 T A 1: 135,827,775 L263Q probably damaging Het
Lctl G A 9: 64,126,967 G296D probably damaging Het
Lmtk3 A T 7: 45,788,000 I205F possibly damaging Het
Magel2 G T 7: 62,379,331 R661L unknown Het
Mcm10 G A 2: 5,007,109 P180S possibly damaging Het
Mia3 G T 1: 183,327,392 A446D Het
N4bp2 G A 5: 65,806,371 V588M probably benign Het
Naip6 C T 13: 100,299,751 V755M probably benign Het
Neurl1a T C 19: 47,240,660 V213A probably damaging Het
Nrd1 A G 4: 109,039,749 T522A probably damaging Het
Ntng1 T C 3: 110,135,447 Q21R probably damaging Het
Nup160 T C 2: 90,703,952 L707S probably damaging Het
Oas2 A T 5: 120,738,522 V452D probably damaging Het
Olfr3 A G 2: 36,812,903 L63P probably damaging Het
Olfr350 A T 2: 36,850,069 M8L probably benign Het
Olfr351 G A 2: 36,859,668 R227* probably null Het
Olfr519 A G 7: 108,894,222 F67L probably damaging Het
Olfr593 A C 7: 103,212,309 T150P probably damaging Het
Plekhg1 A T 10: 3,964,327 T1405S Het
Pnrc1 G A 4: 33,248,300 P33L probably damaging Het
Prkag2 A T 5: 24,880,686 V312E possibly damaging Het
Rps17 T A 7: 81,344,345 E76V possibly damaging Het
Rsph10b G A 5: 143,967,220 G672S possibly damaging Het
Slc2a13 T C 15: 91,321,604 N460S probably benign Het
Slco2b1 A T 7: 99,690,557 C56S possibly damaging Het
Spn T C 7: 127,137,006 T110A probably benign Het
Sult2a8 T C 7: 14,413,715 N217S possibly damaging Het
Tbx2 C A 11: 85,833,489 T128N probably damaging Het
Tecpr2 A T 12: 110,967,844 M1313L probably benign Het
Tmc2 G A 2: 130,196,577 probably null Het
Tstd1 G T 1: 171,419,955 A69S probably damaging Het
Txnrd3 A G 6: 89,661,585 D252G probably benign Het
Ulk2 T C 11: 61,819,348 N345D probably damaging Het
Unc13c T C 9: 73,574,073 D1694G probably benign Het
Vill T C 9: 119,065,493 V406A probably damaging Het
Vmn2r115 T C 17: 23,345,913 V258A possibly damaging Het
Vmn2r82 T A 10: 79,396,618 M817K probably benign Het
Xpnpep3 T C 15: 81,430,887 S263P probably benign Het
Zfp980 A G 4: 145,702,144 D481G probably benign Het
Znrf4 A G 17: 56,512,169 V46A probably benign Het
Other mutations in Zmpste24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Zmpste24 APN 4 121082815 unclassified probably benign
IGL00672:Zmpste24 APN 4 121065860 missense probably damaging 1.00
IGL00828:Zmpste24 APN 4 121074520 missense possibly damaging 0.66
IGL01731:Zmpste24 APN 4 121097884 missense probably benign
IGL01738:Zmpste24 APN 4 121061111 missense probably damaging 1.00
IGL02668:Zmpste24 APN 4 121061100 missense probably damaging 1.00
R0097:Zmpste24 UTSW 4 121095543 splice site probably benign
R0097:Zmpste24 UTSW 4 121095543 splice site probably benign
R0226:Zmpste24 UTSW 4 121081209 missense probably benign 0.00
R0277:Zmpste24 UTSW 4 121082853 missense probably damaging 1.00
R0323:Zmpste24 UTSW 4 121082853 missense probably damaging 1.00
R1822:Zmpste24 UTSW 4 121087316 missense possibly damaging 0.78
R2233:Zmpste24 UTSW 4 121097965 missense probably benign 0.05
R2374:Zmpste24 UTSW 4 121074537 missense probably benign
R3683:Zmpste24 UTSW 4 121061091 missense probably damaging 1.00
R4810:Zmpste24 UTSW 4 121061054 missense probably damaging 1.00
R5169:Zmpste24 UTSW 4 121068717 missense probably damaging 1.00
R5650:Zmpste24 UTSW 4 121082877 missense possibly damaging 0.67
R5709:Zmpste24 UTSW 4 121065878 missense probably benign
R6429:Zmpste24 UTSW 4 121095670 missense probably damaging 0.99
R7165:Zmpste24 UTSW 4 121082894 missense probably null 1.00
R7498:Zmpste24 UTSW 4 121082831 missense probably benign 0.00
R8416:Zmpste24 UTSW 4 121083359 missense probably benign 0.42
R8958:Zmpste24 UTSW 4 121087311 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TCAGGTCCATCTGCAATGCTG -3'
(R):5'- CAAATTAATGCTACAGACCATTCGG -3'

Sequencing Primer
(F):5'- TGGCGCATACACCATTGATG -3'
(R):5'- CCATTCGGTGTTTGATCACAAATTAC -3'
Posted On2019-09-13