Incidental Mutation 'IGL02668:Zmpste24'
ID302822
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zmpste24
Ensembl Gene ENSMUSG00000043207
Gene Namezinc metallopeptidase, STE24
SynonymsA530043O15Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.397) question?
Stock #IGL02668
Quality Score
Status
Chromosome4
Chromosomal Location121059237-121098241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 121061100 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 442 (N442Y)
Ref Sequence ENSEMBL: ENSMUSP00000053900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058754]
Predicted Effect probably damaging
Transcript: ENSMUST00000058754
AA Change: N442Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053900
Gene: ENSMUSG00000043207
AA Change: N442Y

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik A G 14: 35,810,117 M167T probably benign Het
Abcc4 G T 14: 118,611,475 S488R probably damaging Het
Adprm G T 11: 67,040,247 D230E possibly damaging Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Casc1 G T 6: 145,205,257 R30S unknown Het
Ccdc66 T C 14: 27,497,341 K309E possibly damaging Het
Cyb561d2 C T 9: 107,540,172 A127T probably benign Het
Dctn1 T A 6: 83,191,048 M357K possibly damaging Het
Diras2 T C 13: 52,507,770 N167S probably benign Het
Dmgdh T G 13: 93,703,910 V283G probably damaging Het
Dmxl2 A T 9: 54,416,945 W1052R probably damaging Het
Dnah6 A T 6: 73,121,823 V2083D possibly damaging Het
Exoc4 T G 6: 33,921,532 F895L probably benign Het
Fsip1 G T 2: 118,251,725 A76E probably benign Het
Fsip2 A G 2: 82,998,318 I6820V probably benign Het
Hdac10 G A 15: 89,125,644 P395L probably benign Het
Ing3 A G 6: 21,950,059 D17G probably damaging Het
Map3k4 A T 17: 12,235,953 F1383L possibly damaging Het
Mpp6 C T 6: 50,194,529 T386I probably damaging Het
Myct1 C A 10: 5,604,513 P127T probably damaging Het
Olfr593 A T 7: 103,212,735 I281F possibly damaging Het
Osbpl7 G T 11: 97,067,205 A625S possibly damaging Het
Padi2 C T 4: 140,949,880 R660C probably benign Het
Paip1 A T 13: 119,438,071 I185F probably damaging Het
Phykpl G A 11: 51,593,687 probably null Het
Plekhg6 G A 6: 125,372,803 probably benign Het
Plxna1 A T 6: 89,357,269 L126* probably null Het
Rchy1 A T 5: 91,962,718 M1K probably null Het
Rfx3 T C 19: 27,815,614 probably benign Het
Sdr9c7 T C 10: 127,902,398 F182L probably damaging Het
Sgpl1 A C 10: 61,105,450 V294G probably damaging Het
Sh2b1 A G 7: 126,472,474 S180P possibly damaging Het
Sorbs1 T C 19: 40,314,681 D488G probably damaging Het
Stab2 A G 10: 86,846,163 probably benign Het
Sycp1 A C 3: 102,820,531 probably benign Het
Tmem245 T C 4: 56,925,081 K347E possibly damaging Het
Tnk1 A G 11: 69,856,923 M51T probably damaging Het
Trpm2 C T 10: 77,935,942 R621H probably damaging Het
Ubd G T 17: 37,195,529 R102L probably benign Het
Uhrf1bp1 A C 17: 27,886,575 I692L possibly damaging Het
Vmn2r103 G T 17: 19,794,127 A394S probably benign Het
Zfp324 T A 7: 12,970,846 C321S probably damaging Het
Zfp488 G T 14: 33,970,820 Q129K 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
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
R7353:Zmpste24 UTSW 4 121095581 missense probably damaging 1.00
R7498:Zmpste24 UTSW 4 121082831 missense probably benign 0.00
Posted On2015-04-16