Incidental Mutation 'R8416:Zmpste24'
ID 652936
Institutional Source Beutler Lab
Gene Symbol Zmpste24
Ensembl Gene ENSMUSG00000043207
Gene Name zinc metallopeptidase, STE24
Synonyms A530043O15Rik
MMRRC Submission 067770-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.374) question?
Stock # R8416 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 120916434-120955438 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120940556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 142 (S142G)
Ref Sequence ENSEMBL: ENSMUSP00000053900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058754] [ENSMUST00000135788]
AlphaFold Q80W54
Predicted Effect probably benign
Transcript: ENSMUST00000058754
AA Change: S142G

PolyPhen 2 Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: S142G

Pfam:Peptidase_M48_N 41 225 2.5e-70 PFAM
Pfam:Peptidase_M48 228 473 5.5e-75 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135788
AA Change: S120G

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122588
Gene: ENSMUSG00000043207
AA Change: S120G

PDB:2YPT|E 1 146 5e-58 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 A G 16: 20,369,023 (GRCm39) N173S probably benign Het
Agps A G 2: 75,684,547 (GRCm39) I172V probably benign Het
Amz1 G A 5: 140,737,731 (GRCm39) W330* probably null Het
Asap1 A T 15: 64,002,072 (GRCm39) M413K possibly damaging Het
Bhmt1b T C 18: 87,774,687 (GRCm39) V70A probably damaging Het
Ccdc83 A T 7: 89,885,513 (GRCm39) W291R unknown Het
Cdh19 A T 1: 110,853,610 (GRCm39) M277K probably benign Het
Clca3a1 C A 3: 144,460,914 (GRCm39) probably null Het
Cnpy1 T C 5: 28,408,423 (GRCm39) T138A probably benign Het
Csnka2ip T C 16: 64,300,295 (GRCm39) D23G Het
Cxcr5 A T 9: 44,425,583 (GRCm39) F25I probably benign Het
Defb33 T A 8: 21,387,651 (GRCm39) *63R probably null Het
Dgkz A T 2: 91,770,649 (GRCm39) S485T possibly damaging Het
Elac1 A G 18: 73,871,927 (GRCm39) I356T probably damaging Het
Fam135a C T 1: 24,067,675 (GRCm39) D1065N probably benign Het
Fbxo10 T A 4: 45,058,942 (GRCm39) D265V possibly damaging Het
Flrt2 A G 12: 95,746,331 (GRCm39) E223G probably benign Het
Gjc2 A T 11: 59,068,334 (GRCm39) D49E probably damaging Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Irf2 A T 8: 47,271,887 (GRCm39) Y158F probably benign Het
Jmy T C 13: 93,634,949 (GRCm39) D289G probably damaging Het
Limch1 T G 5: 67,156,649 (GRCm39) I372S probably benign Het
Lsm11 A T 11: 45,824,730 (GRCm39) W266R probably benign Het
Mboat2 G A 12: 24,984,609 (GRCm39) E147K probably damaging Het
Mctp2 T C 7: 71,852,210 (GRCm39) I439V probably benign Het
Npc2 A G 12: 84,812,131 (GRCm39) V37A probably damaging Het
Or2t29 A T 11: 58,433,778 (GRCm39) S188T possibly damaging Het
Or5b119 A T 19: 13,456,764 (GRCm39) M266K possibly damaging Het
Parp4 T C 14: 56,825,271 (GRCm39) probably null Het
Pcdhga2 A T 18: 37,803,178 (GRCm39) N341Y probably damaging Het
Pde1b G A 15: 103,423,745 (GRCm39) probably benign Het
Pde1c C T 6: 56,128,276 (GRCm39) probably null Het
Plce1 G A 19: 38,761,441 (GRCm39) V2098I possibly damaging Het
Pou2f2 G T 7: 24,815,551 (GRCm39) S72* probably null Het
Ptpru C T 4: 131,535,783 (GRCm39) R398H probably damaging Het
Rps15 A G 10: 80,128,624 (GRCm39) K7E probably benign Het
Rtn4rl2 C T 2: 84,702,951 (GRCm39) G207D probably damaging Het
Scn2a A C 2: 65,511,345 (GRCm39) L130F probably benign Het
Sh3tc1 G A 5: 35,868,256 (GRCm39) R403W probably damaging Het
Slc7a9 A G 7: 35,152,858 (GRCm39) K92R probably benign Het
Slit3 A T 11: 35,399,062 (GRCm39) E142D probably benign Het
Srpk1 A G 17: 28,813,229 (GRCm39) I505T probably damaging Het
Sult1c2 A T 17: 54,269,580 (GRCm39) I216K probably benign Het
Susd6 T A 12: 80,897,997 (GRCm39) M44K probably benign Het
Thoc5 T A 11: 4,876,068 (GRCm39) V607E probably benign Het
Tiparp A G 3: 65,438,767 (GRCm39) R28G probably benign Het
Tln1 C T 4: 43,540,116 (GRCm39) V1498I probably benign Het
Tmprss11c T G 5: 86,387,276 (GRCm39) Q214P probably damaging Het
Uck1 C A 2: 32,150,153 (GRCm39) probably benign Het
Wdr11 G A 7: 129,232,403 (GRCm39) S937N possibly damaging Het
Zdhhc23 A T 16: 43,791,927 (GRCm39) I282K probably damaging Het
Zfp488 A G 14: 33,693,052 (GRCm39) M37T probably benign Het
Other mutations in Zmpste24
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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

Sequencing Primer
Posted On 2020-10-20