Incidental Mutation 'IGL00392:Capzb'
ID 6547
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capzb
Ensembl Gene ENSMUSG00000028745
Gene Name capping actin protein of muscle Z-line subunit beta
Synonyms CPB2, Cappb1, CPbeta1, CPB1, CPbeta2, 1700120C01Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00392
Quality Score
Status
Chromosome 4
Chromosomal Location 138920210-139019129 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 139016258 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 273 (I273T)
Ref Sequence ENSEMBL: ENSMUSP00000099565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030518] [ENSMUST00000042675] [ENSMUST00000102507] [ENSMUST00000102508] [ENSMUST00000138045]
AlphaFold P47757
Predicted Effect probably benign
Transcript: ENSMUST00000030518
SMART Domains Protein: ENSMUSP00000030518
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 35 269 6.2e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000042675
SMART Domains Protein: ENSMUSP00000038011
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 1 228 4.7e-111 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102507
AA Change: I273T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099565
Gene: ENSMUSG00000028745
AA Change: I273T

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 6 240 4.6e-114 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102508
SMART Domains Protein: ENSMUSP00000099566
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 5 240 6.8e-115 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132385
Predicted Effect probably benign
Transcript: ENSMUST00000138045
SMART Domains Protein: ENSMUSP00000122077
Gene: ENSMUSG00000028745

DomainStartEndE-ValueType
Pfam:F_actin_cap_B 1 204 9.8e-97 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150077
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit of a highly conserved filamentous actin capping protein that binds the barbed end of filamentous actin to stabilize it and terminate elongation. Interaction of this protein with the barbed end of the actin filament occurs through binding of the amphipathic helix at the C-terminus to the hydrophobic cleft on the actin molecule. This gene is required for a variety of dynamic actin-mediated processes including organization of lamellipodia and filopodia, growth cone morphology and neurite outgrowth in hippocampal neurons, and asymmetric spindle migration and polar body extrusion during oocyte maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a conditional allele activated in the ear exhibit increased ABR threshold, absent DPOE, reduced vestibular function, head shaking and abnormal stereocilia length and width in the cochlea and utricle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk3 T C 7: 80,727,757 (GRCm39) Y296H possibly damaging Het
Armh3 T G 19: 45,928,927 (GRCm39) H389P probably benign Het
Brca2 A G 5: 150,464,705 (GRCm39) T1490A probably benign Het
Btaf1 A T 19: 36,987,102 (GRCm39) D1732V probably damaging Het
Carmil1 G A 13: 24,278,474 (GRCm39) T165I probably damaging Het
Cc2d2a A G 5: 43,881,722 (GRCm39) probably benign Het
Cdh22 A G 2: 164,954,521 (GRCm39) Y667H possibly damaging Het
Celsr1 T A 15: 85,815,546 (GRCm39) Q1823L probably benign Het
Cfap210 T C 2: 69,602,328 (GRCm39) H361R probably benign Het
Cntrl T C 2: 35,027,826 (GRCm39) probably benign Het
Dhx15 A T 5: 52,314,924 (GRCm39) probably benign Het
Dip2c A T 13: 9,543,144 (GRCm39) D30V probably damaging Het
Dyrk2 T C 10: 118,695,749 (GRCm39) D503G probably damaging Het
Enpp1 T A 10: 24,521,325 (GRCm39) I801F possibly damaging Het
Fnbp4 A C 2: 90,581,966 (GRCm39) probably benign Het
Klk1b5 T A 7: 43,865,928 (GRCm39) W2R probably benign Het
Lama2 T C 10: 27,064,261 (GRCm39) K1240R probably benign Het
Matn2 A G 15: 34,403,002 (GRCm39) N409S probably benign Het
Mep1b A T 18: 21,217,243 (GRCm39) K121* probably null Het
Mettl26 T C 17: 26,095,098 (GRCm39) probably null Het
Myh7 T C 14: 55,224,845 (GRCm39) E574G probably damaging Het
Nfkbie G A 17: 45,871,139 (GRCm39) probably null Het
Nlrc4 T C 17: 74,753,529 (GRCm39) R285G probably benign Het
Pax8 T C 2: 24,333,144 (GRCm39) Y66C probably damaging Het
Plxna2 A G 1: 194,482,876 (GRCm39) D1523G probably damaging Het
Pou2f1 A G 1: 165,724,159 (GRCm39) probably benign Het
Prom1 A G 5: 44,164,363 (GRCm39) probably null Het
Ptk6 T C 2: 180,837,611 (GRCm39) D436G probably benign Het
Robo4 T A 9: 37,319,525 (GRCm39) F592I probably damaging Het
Sec24c C A 14: 20,743,271 (GRCm39) S964R probably benign Het
Sgcb G T 5: 73,793,021 (GRCm39) N260K possibly damaging Het
Smarcd2 T C 11: 106,156,730 (GRCm39) D221G probably damaging Het
Unc13b C T 4: 43,240,285 (GRCm39) R3569W probably damaging Het
Zfpl1 C A 19: 6,131,137 (GRCm39) R285L possibly damaging Het
Other mutations in Capzb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Capzb APN 4 139,014,361 (GRCm39) missense probably benign 0.00
R0612:Capzb UTSW 4 139,018,340 (GRCm39) missense probably benign
R0729:Capzb UTSW 4 139,016,288 (GRCm39) unclassified probably benign
R1547:Capzb UTSW 4 138,989,409 (GRCm39) splice site probably null
R1731:Capzb UTSW 4 139,007,341 (GRCm39) missense probably damaging 1.00
R1748:Capzb UTSW 4 138,984,679 (GRCm39) missense probably damaging 1.00
R2234:Capzb UTSW 4 138,989,334 (GRCm39) missense possibly damaging 0.80
R2424:Capzb UTSW 4 138,921,441 (GRCm39) start codon destroyed probably null 0.01
R4799:Capzb UTSW 4 138,920,310 (GRCm39) utr 5 prime probably benign
R5076:Capzb UTSW 4 139,015,125 (GRCm39) missense possibly damaging 0.85
R5596:Capzb UTSW 4 139,006,738 (GRCm39) intron probably benign
R6200:Capzb UTSW 4 139,007,324 (GRCm39) missense probably benign 0.33
R7587:Capzb UTSW 4 138,989,334 (GRCm39) missense possibly damaging 0.80
R7763:Capzb UTSW 4 139,007,864 (GRCm39) missense probably benign
X0012:Capzb UTSW 4 138,984,602 (GRCm39) missense probably benign 0.25
Posted On 2012-04-20