Incidental Mutation 'IGL02159:Capza1'
ID282377
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capza1
Ensembl Gene ENSMUSG00000070372
Gene Namecapping protein (actin filament) muscle Z-line, alpha 1
SynonymsCappa1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.590) question?
Stock #IGL02159
Quality Score
Status
Chromosome3
Chromosomal Location104822779-104864505 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 104864371 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 3 (D3G)
Ref Sequence ENSEMBL: ENSMUSP00000142606 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059271] [ENSMUST00000094028] [ENSMUST00000106769] [ENSMUST00000123876] [ENSMUST00000183914] [ENSMUST00000195912] [ENSMUST00000200132]
Predicted Effect probably benign
Transcript: ENSMUST00000059271
SMART Domains Protein: ENSMUSP00000058455
Gene: ENSMUSG00000045576

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
Pfam:ST7 41 559 1.6e-292 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094028
AA Change: D3G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000102381
Gene: ENSMUSG00000070372
AA Change: D3G

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 14 282 3.1e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106769
SMART Domains Protein: ENSMUSP00000102380
Gene: ENSMUSG00000045576

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
Pfam:ST7 41 420 8.2e-209 PFAM
Pfam:ST7 419 527 1.4e-57 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123876
SMART Domains Protein: ENSMUSP00000138577
Gene: ENSMUSG00000045576

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
Pfam:ST7 41 282 6.7e-96 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146237
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155476
Predicted Effect probably benign
Transcript: ENSMUST00000183914
SMART Domains Protein: ENSMUSP00000139266
Gene: ENSMUSG00000045576

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
low complexity region 107 120 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000195912
AA Change: D3G

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000142606
Gene: ENSMUSG00000070372
AA Change: D3G

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 12 75 2.7e-16 PFAM
Pfam:F-actin_cap_A 72 113 1.7e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199186
Predicted Effect probably benign
Transcript: ENSMUST00000200132
SMART Domains Protein: ENSMUSP00000143759
Gene: ENSMUSG00000045576

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
Pfam:ST7 41 212 2.7e-81 PFAM
Pfam:ST7 209 481 1.3e-167 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein. The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,610,665 L257S probably damaging Het
2210010C04Rik T C 6: 41,032,957 T148A probably benign Het
Abca13 A G 11: 9,314,545 S2976G probably benign Het
Afmid T C 11: 117,836,426 W267R probably damaging Het
Ahi1 A G 10: 21,058,177 K969R probably benign Het
Aldh1l1 A G 6: 90,594,656 probably benign Het
Ank3 A G 10: 69,808,892 H62R probably damaging Het
Arid2 T C 15: 96,358,912 probably benign Het
BC030867 G A 11: 102,260,165 probably null Het
Caps2 G A 10: 112,204,023 V457M probably benign Het
Cav1 T A 6: 17,307,972 V41E possibly damaging Het
Celf2 G T 2: 6,604,177 C264* probably null Het
Clec4a2 C T 6: 123,139,326 S150L probably benign Het
D7Ertd443e A T 7: 134,349,400 D181E possibly damaging Het
Epyc A G 10: 97,670,631 E100G probably benign Het
Hdac11 A G 6: 91,173,102 I294M probably damaging Het
Hsdl1 A G 8: 119,566,414 V73A probably benign Het
Kmt2c A T 5: 25,311,343 S2501T probably benign Het
Lrrc41 T A 4: 116,088,486 F133I probably benign Het
Map3k19 C A 1: 127,823,170 G815C probably benign Het
Muc13 C A 16: 33,799,479 T199K unknown Het
Nif3l1 G T 1: 58,447,946 probably null Het
Nlrp12 A T 7: 3,249,545 probably benign Het
Nup205 T C 6: 35,189,178 S244P probably damaging Het
Olfr1353 A T 10: 78,969,901 N84I probably damaging Het
Parl G A 16: 20,280,088 probably benign Het
Pax8 A G 2: 24,440,788 I211T possibly damaging Het
Pglyrp4 A G 3: 90,730,853 E158G possibly damaging Het
Plekhm1 A G 11: 103,380,231 L478P probably benign Het
Serpina1a C T 12: 103,854,706 G338R probably damaging Het
Serpina5 T C 12: 104,105,298 L388P possibly damaging Het
Sorbs1 A G 19: 40,327,596 V367A probably damaging Het
Srgap2 A G 1: 131,319,666 probably benign Het
Surf1 A G 2: 26,915,651 L26P probably damaging Het
Taf4 A G 2: 179,938,470 S486P probably benign Het
Tdrd6 A T 17: 43,628,390 V589E probably damaging Het
Tuba3b T G 6: 145,619,666 S287A probably benign Het
Txnrd3 G A 6: 89,669,324 R295H probably damaging Het
Ubr5 G T 15: 37,991,379 probably benign Het
Unc45b C T 11: 82,940,181 probably benign Het
Usp32 A G 11: 85,005,802 probably null Het
Utp23 G A 15: 51,882,365 R87K probably benign Het
Vps8 T C 16: 21,466,484 I405T possibly damaging Het
Other mutations in Capza1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1678:Capza1 UTSW 3 104864353 nonsense probably null
R1887:Capza1 UTSW 3 104839780 critical splice donor site probably null
R4059:Capza1 UTSW 3 104825111 missense probably damaging 0.98
R4650:Capza1 UTSW 3 104844980 missense probably damaging 1.00
R5030:Capza1 UTSW 3 104840838 missense probably damaging 1.00
R6666:Capza1 UTSW 3 104828606 splice site probably null
R7293:Capza1 UTSW 3 104840835 missense probably benign
R7748:Capza1 UTSW 3 104825405 critical splice donor site probably null
Posted On2015-04-16