Incidental Mutation 'IGL02448:Cpped1'
ID293619
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cpped1
Ensembl Gene ENSMUSG00000065979
Gene Namecalcineurin-like phosphoesterase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02448
Quality Score
Status
Chromosome16
Chromosomal Location11803721-11909445 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 11805389 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 289 (E289K)
Ref Sequence ENSEMBL: ENSMUSP00000112587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096272] [ENSMUST00000121750]
Predicted Effect probably benign
Transcript: ENSMUST00000096272
AA Change: E303K

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000093992
Gene: ENSMUSG00000065979
AA Change: E303K

DomainStartEndE-ValueType
Pfam:Metallophos 33 250 4.6e-14 PFAM
Pfam:Metallophos_2 63 285 6e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121750
AA Change: E289K

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112587
Gene: ENSMUSG00000065979
AA Change: E289K

DomainStartEndE-ValueType
Pfam:Metallophos 25 236 1e-14 PFAM
Pfam:Metallophos_2 45 271 6.8e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 T A 9: 20,875,570 I286F probably damaging Het
Arhgap5 A G 12: 52,562,340 E1366G probably damaging Het
Blzf1 T A 1: 164,295,781 I326F possibly damaging Het
Cc2d2a A C 5: 43,683,205 probably benign Het
Cdc37 T C 9: 21,139,851 E366G possibly damaging Het
Cdh17 T C 4: 11,784,680 S279P probably benign Het
Cdh18 T C 15: 23,173,789 S30P probably benign Het
Cep192 A G 18: 67,869,447 T2238A probably benign Het
Ctsq A T 13: 61,036,230 Y293N probably damaging Het
Epb41l2 A G 10: 25,493,595 N20S possibly damaging Het
Gcc2 T A 10: 58,292,571 C1304* probably null Het
Hsd3b5 C T 3: 98,622,131 G61E probably damaging Het
Igfals A T 17: 24,880,187 N84I probably damaging Het
Irs2 A T 8: 11,007,862 V190D probably benign Het
Kank1 T A 19: 25,411,375 L804Q probably damaging Het
Kcnj2 G T 11: 111,072,282 V167L probably benign Het
Kif20a T C 18: 34,628,454 V300A possibly damaging Het
Kmt2d T C 15: 98,844,110 probably benign Het
Moxd1 T C 10: 24,282,719 F424L probably damaging Het
Mpeg1 A C 19: 12,462,609 D477A probably benign Het
Mtmr10 A T 7: 64,308,150 Y166F probably damaging Het
Muc5b T G 7: 141,868,489 I4454S possibly damaging Het
Ntng1 G A 3: 109,934,559 probably benign Het
Olfr582 T C 7: 103,042,397 I306T possibly damaging Het
Olfr869 T A 9: 20,137,641 L175* probably null Het
Pex11a A T 7: 79,737,460 probably null Het
Plcg2 A G 8: 117,607,221 D911G probably benign Het
Rc3h2 T C 2: 37,389,805 T471A probably benign Het
Rif1 T A 2: 52,116,696 L2214Q probably damaging Het
Rtel1 T A 2: 181,336,037 S120T probably benign Het
Ryr1 A G 7: 29,105,066 probably benign Het
Sh3yl1 G T 12: 30,939,667 A129S probably damaging Het
Slc25a10 A G 11: 120,497,053 T191A probably benign Het
Slc8b1 T C 5: 120,525,791 S359P probably damaging Het
Srf T C 17: 46,555,423 T136A possibly damaging Het
Stx1a G T 5: 135,023,619 probably benign Het
Taf1d T A 9: 15,310,394 C224* probably null Het
Tnik A G 3: 28,621,077 S700G probably null Het
Ttn T C 2: 76,942,987 H2357R probably benign Het
Ttn T C 2: 76,736,114 E28145G probably damaging Het
Ush1c C A 7: 46,209,137 V576F possibly damaging Het
Xpc T C 6: 91,515,744 E19G probably benign Het
Zdhhc25 G A 15: 88,600,842 V127M probably damaging Het
Other mutations in Cpped1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02221:Cpped1 APN 16 11828528 missense probably damaging 1.00
IGL03048:Cpped1 UTSW 16 11828475 missense probably benign 0.23
R0725:Cpped1 UTSW 16 11828450 missense probably damaging 0.97
R2084:Cpped1 UTSW 16 11828501 missense probably damaging 1.00
R2276:Cpped1 UTSW 16 11894881 critical splice donor site probably null
R3702:Cpped1 UTSW 16 11828440 missense probably damaging 1.00
R4321:Cpped1 UTSW 16 11887746 missense probably benign 0.35
R4407:Cpped1 UTSW 16 11805421 missense probably damaging 0.96
R4421:Cpped1 UTSW 16 11805357 makesense probably null
R4672:Cpped1 UTSW 16 11805374 nonsense probably null
R4704:Cpped1 UTSW 16 11885629 intron probably benign
R4928:Cpped1 UTSW 16 11828279 missense probably damaging 1.00
R5647:Cpped1 UTSW 16 11828146 unclassified probably benign
R7260:Cpped1 UTSW 16 11828463 missense possibly damaging 0.90
R7610:Cpped1 UTSW 16 11894878 splice site probably null
R8008:Cpped1 UTSW 16 11828396 missense probably damaging 1.00
X0017:Cpped1 UTSW 16 11828292 missense probably damaging 1.00
Posted On2015-04-16