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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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