Incidental Mutation 'IGL01115:Capza2'
ID51337
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: 0.364) question?
Stock #IGL01115
Quality Score
Status
Chromosome6
Chromosomal Location17636234-17666972 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 17654123 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 58 (N58S)
Ref Sequence ENSEMBL: ENSMUSP00000123398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015877] [ENSMUST00000130606] [ENSMUST00000152005]
Predicted Effect probably damaging
Transcript: ENSMUST00000015877
AA Change: N58S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000015877
Gene: ENSMUSG00000015733
AA Change: N58S

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 282 3.2e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000130606
AA Change: N58S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123398
Gene: ENSMUSG00000015733
AA Change: N58S

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 damaging
Transcript: ENSMUST00000152005
AA Change: N58S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145159
Gene: ENSMUSG00000015733
AA Change: N58S

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4430402I18Rik T C 19: 28,944,442 probably null Het
Abcc10 T C 17: 46,310,426 T934A probably benign Het
Ankzf1 T C 1: 75,192,615 L55P probably damaging Het
Aoc1 T C 6: 48,906,197 S336P probably damaging Het
Bmper T C 9: 23,399,689 probably benign Het
Cdca2 A G 14: 67,714,697 V75A probably damaging Het
Chmp7 A G 14: 69,721,323 S181P probably damaging Het
Colq A G 14: 31,545,128 probably benign Het
Dennd5b A G 6: 149,009,748 probably benign Het
Has3 A G 8: 106,878,688 T509A probably benign Het
Hsh2d T C 8: 72,200,619 S282P probably damaging Het
Impg2 C T 16: 56,259,440 P536S possibly damaging Het
Naip1 T A 13: 100,443,720 probably null Het
Napb T C 2: 148,707,169 Y111C probably damaging Het
Olfr1132 T C 2: 87,635,384 D121G probably damaging Het
Osmr A G 15: 6,847,201 probably benign Het
Pcdh10 A G 3: 45,392,775 T1002A probably damaging Het
Plcg2 T C 8: 117,557,329 W122R probably damaging Het
Prpf19 C T 19: 10,900,203 T204M probably damaging Het
Ptbp1 T A 10: 79,859,962 probably benign Het
Ptpre T A 7: 135,670,764 D402E probably damaging Het
Siglec1 T C 2: 131,074,502 N1176S probably benign Het
Son A G 16: 91,659,458 T1698A probably benign Het
Speer2 C T 16: 69,861,651 W42* probably null Het
Taf5 T C 19: 47,075,082 V357A probably benign Het
Tctn1 A G 5: 122,264,207 S55P probably benign Het
Tmem115 T A 9: 107,534,582 L35Q probably damaging Het
Tmem30c T A 16: 57,276,117 probably benign Het
Tmprss7 T C 16: 45,660,789 D678G probably damaging Het
Ugt1a7c A T 1: 88,095,245 Q42L probably damaging Het
Unc13b T A 4: 43,258,492 V4099E probably damaging Het
Usp36 G A 11: 118,285,960 L11F probably damaging Het
Zfp955a T A 17: 33,242,580 K193* probably null Het
Zranb2 T C 3: 157,546,691 probably benign Het
Other mutations in Capza2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01330:Capza2 APN 6 17654171 critical splice donor site probably null
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
Posted On2013-06-21