Incidental Mutation 'IGL01330:Capza2'
ID74494
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capza2
Ensembl Gene ENSMUSG00000015733
Gene Namecapping protein (actin filament) muscle Z-line, alpha 2
Synonyms1110053K06Rik, Cappa2
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.467) question?
Stock #IGL01330
Quality Score
Status
Chromosome6
Chromosomal Location17636234-17666972 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 17654171 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145159 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015877] [ENSMUST00000130606] [ENSMUST00000152005]
Predicted Effect probably null
Transcript: ENSMUST00000015877
SMART Domains Protein: ENSMUSP00000015877
Gene: ENSMUSG00000015733

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 282 3.2e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130606
SMART Domains Protein: ENSMUSP00000123398
Gene: ENSMUSG00000015733

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 12 173 1.3e-52 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148694
Predicted Effect probably null
Transcript: ENSMUST00000152005
SMART Domains Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 145 2.1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156701
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,920,951 E245G possibly damaging Het
Acap2 T C 16: 31,154,677 I43V probably damaging Het
Acot11 T C 4: 106,771,484 T36A probably benign Het
Bsn A G 9: 108,110,913 probably benign Het
Cerkl A G 2: 79,368,781 I155T possibly damaging Het
Dclre1b T C 3: 103,803,126 T490A probably benign Het
Efcab6 G A 15: 84,044,300 S31L probably benign Het
Faim T A 9: 98,992,535 M67K probably damaging Het
Frem2 T G 3: 53,655,241 Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 V341A possibly damaging Het
Grhpr T C 4: 44,986,375 F142L probably benign Het
Kif14 T C 1: 136,476,374 V532A probably damaging Het
Klk1b9 T A 7: 43,978,443 L55* probably null Het
Kmt2e C A 5: 23,497,948 P1042Q possibly damaging Het
Mpped1 T A 15: 83,800,119 I114N probably damaging Het
Mtap C A 4: 89,171,223 T148K probably damaging Het
Muc16 G A 9: 18,508,507 A8347V possibly damaging Het
Nhs A T X: 161,841,453 S967T probably damaging Het
Npas3 A G 12: 54,048,819 Y344C probably damaging Het
Olfr1431 T C 19: 12,210,040 V158A possibly damaging Het
Olfr635 A T 7: 103,980,142 probably benign Het
Olfr876 T A 9: 37,804,220 F103Y probably damaging Het
Osmr A G 15: 6,842,028 Y303H probably damaging Het
Pcdhb8 A T 18: 37,357,578 I770F probably benign Het
Pde4a C T 9: 21,192,438 probably benign Het
Prkacb T G 3: 146,751,511 N79T probably damaging Het
Psd3 A C 8: 67,697,178 Y1222D probably damaging Het
Rrbp1 T A 2: 143,968,618 E847D possibly damaging Het
Sbno1 A T 5: 124,391,979 D912E probably damaging Het
Sgsm3 T A 15: 81,010,852 probably benign Het
Shcbp1 T C 8: 4,736,372 T577A probably benign Het
Siglec1 A T 2: 131,083,536 V335D probably damaging Het
Siglec1 A T 2: 131,075,005 L1110* probably null Het
Slc4a11 A G 2: 130,687,682 I335T probably benign Het
Smchd1 A C 17: 71,436,788 S461A probably benign Het
Spata16 C T 3: 26,914,715 P415S probably damaging Het
Tdrd12 G A 7: 35,505,034 S217L possibly damaging Het
Tmem156 C T 5: 65,080,182 R45H probably benign Het
Vmn2r90 T C 17: 17,733,280 S569P probably benign Het
Vps13c T A 9: 67,964,108 V3220E probably damaging Het
Wdr59 T C 8: 111,481,933 N439S possibly damaging Het
Zfp568 A G 7: 30,022,277 M215V probably benign Het
Zgrf1 T A 3: 127,584,007 V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 D255G possibly damaging Het
Other mutations in Capza2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01115:Capza2 APN 6 17654123 missense probably damaging 1.00
IGL02692:Capza2 APN 6 17654116 nonsense probably null
R0086:Capza2 UTSW 6 17660774 missense probably damaging 1.00
R0302:Capza2 UTSW 6 17648524 missense probably benign 0.01
R0331:Capza2 UTSW 6 17665103 missense probably benign 0.09
R1466:Capza2 UTSW 6 17657159 intron probably benign
R2036:Capza2 UTSW 6 17660778 missense probably damaging 1.00
R4395:Capza2 UTSW 6 17656450 splice site probably null
R4978:Capza2 UTSW 6 17662115 missense probably null 0.69
R5653:Capza2 UTSW 6 17654113 missense probably damaging 1.00
R5734:Capza2 UTSW 6 17660765 missense probably damaging 1.00
R7190:Capza2 UTSW 6 17654121 nonsense probably null
R8175:Capza2 UTSW 6 17665382 missense not run
Posted On2013-10-07