Incidental Mutation 'IGL00429:Pm20d2'
ID6697
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pm20d2
Ensembl Gene ENSMUSG00000054659
Gene Namepeptidase M20 domain containing 2
SynonymsAcy1l2, LOC242377
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.360) question?
Stock #IGL00429
Quality Score
Status
Chromosome4
Chromosomal Location33174230-33189737 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 33187205 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098181] [ENSMUST00000119167]
Predicted Effect probably benign
Transcript: ENSMUST00000098181
SMART Domains Protein: ENSMUSP00000095783
Gene: ENSMUSG00000054659

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 126 141 N/A INTRINSIC
Pfam:M20_dimer 199 297 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119167
SMART Domains Protein: ENSMUSP00000113669
Gene: ENSMUSG00000054659

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 126 141 N/A INTRINSIC
Pfam:M20_dimer 199 297 5.4e-10 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009J07Rik G A 10: 77,893,839 probably benign Het
4933411K16Rik T C 19: 42,052,544 L38P probably damaging Het
Abca1 A G 4: 53,059,255 probably null Het
Abca15 T A 7: 120,397,054 I1401N probably damaging Het
Adam3 A C 8: 24,694,278 Y569D probably damaging Het
Ap2a1 T C 7: 44,905,768 S458G probably damaging Het
Asxl3 C T 18: 22,525,223 P2097S probably benign Het
AW551984 T C 9: 39,592,849 D607G probably benign Het
Ccdc158 C A 5: 92,657,881 M338I probably benign Het
Cdh23 A G 10: 60,421,141 S735P probably damaging Het
Cdh9 T C 15: 16,828,362 V180A probably damaging Het
Cyp4a31 A T 4: 115,574,974 probably benign Het
Dus4l A G 12: 31,641,669 V180A probably benign Het
Dysf A T 6: 84,189,844 T1672S probably damaging Het
F830016B08Rik T A 18: 60,300,268 L141Q probably damaging Het
Fhod3 A G 18: 24,994,540 E313G probably damaging Het
Gm4884 A G 7: 41,044,385 T593A probably benign Het
Hist1h2bm T C 13: 21,722,140 S15P possibly damaging Het
Il18r1 G A 1: 40,498,652 E526K possibly damaging Het
Lama4 A T 10: 39,011,026 H109L possibly damaging Het
Mab21l1 A C 3: 55,783,136 Q48P probably damaging Het
Magi3 T A 3: 104,014,978 K1474N probably damaging Het
Mre11a T C 9: 14,802,813 F237L probably damaging Het
Mst1r A T 9: 107,913,250 probably benign Het
Myh2 C T 11: 67,180,790 Q478* probably null Het
Mylip C A 13: 45,408,567 P282T probably benign Het
Mymk T C 2: 27,062,787 Y103C probably damaging Het
Necab1 A T 4: 15,052,656 N107K probably damaging Het
Pclo T C 5: 14,680,739 probably benign Het
Phgdh T C 3: 98,328,315 K129E probably damaging Het
Plxna4 T C 6: 32,162,091 Y1714C probably damaging Het
Ppfibp2 A G 7: 107,697,594 T172A probably benign Het
Prkca T C 11: 108,343,508 T54A probably benign Het
Prlr A G 15: 10,328,324 D295G probably benign Het
Rdh12 A G 12: 79,211,402 I68V probably benign Het
Slc14a2 A G 18: 78,150,438 F850L possibly damaging Het
Smad2 A T 18: 76,298,495 S185C possibly damaging Het
Soga1 A C 2: 157,030,864 F909C probably damaging Het
Trav13n-4 T A 14: 53,363,831 L19Q probably benign Het
Ush2a T A 1: 188,400,114 C844* probably null Het
Vwce T A 19: 10,664,511 probably null Het
Wdr95 T C 5: 149,595,244 probably benign Het
Zfp143 T C 7: 110,091,772 I510T probably damaging Het
Zfp930 G T 8: 69,227,982 K90N probably damaging Het
Other mutations in Pm20d2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03184:Pm20d2 APN 4 33179241 missense probably damaging 1.00
PIT4504001:Pm20d2 UTSW 4 33183152 missense probably damaging 1.00
PIT4651001:Pm20d2 UTSW 4 33181715 missense probably damaging 0.99
PIT4791001:Pm20d2 UTSW 4 33174756 missense probably benign 0.09
R0594:Pm20d2 UTSW 4 33181746 missense probably damaging 0.99
R0973:Pm20d2 UTSW 4 33174734 splice site probably benign
R1584:Pm20d2 UTSW 4 33174772 missense probably damaging 1.00
R3850:Pm20d2 UTSW 4 33174414 missense probably damaging 0.96
R4831:Pm20d2 UTSW 4 33179293 missense probably damaging 1.00
R5166:Pm20d2 UTSW 4 33181803 missense probably benign
R6025:Pm20d2 UTSW 4 33181833 missense probably damaging 0.98
R7030:Pm20d2 UTSW 4 33174752 missense possibly damaging 0.65
R7109:Pm20d2 UTSW 4 33187186 missense probably damaging 1.00
R8335:Pm20d2 UTSW 4 33189245 missense probably benign 0.01
Z1177:Pm20d2 UTSW 4 33181687 missense possibly damaging 0.95
Posted On2012-04-20