Incidental Mutation 'IGL02228:Capza3'
ID285379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capza3
Ensembl Gene ENSMUSG00000041791
Gene Namecapping protein (actin filament) muscle Z-line, alpha 3
SynonymsGsg3, repro32, 510-4, Tex8, cp alpha3, Cappa3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL02228
Quality Score
Status
Chromosome6
Chromosomal Location140041252-140042778 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 140041915 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 80 (D80G)
Ref Sequence ENSEMBL: ENSMUSP00000038562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000043797] [ENSMUST00000129986] [ENSMUST00000137148] [ENSMUST00000149931]
Predicted Effect probably benign
Transcript: ENSMUST00000032356
SMART Domains Protein: ENSMUSP00000032356
Gene: ENSMUSG00000030230

DomainStartEndE-ValueType
Pfam:EF-hand_like 80 162 9.6e-26 PFAM
PLCXc 163 307 5.17e-72 SMART
low complexity region 374 385 N/A INTRINSIC
PLCYc 386 502 1.52e-51 SMART
C2 521 625 2.06e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043797
AA Change: D80G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
AA Change: D80G

DomainStartEndE-ValueType
Pfam:F-actin_cap_A 12 278 7.3e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129986
Predicted Effect probably benign
Transcript: ENSMUST00000137148
Predicted Effect probably benign
Transcript: ENSMUST00000149931
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204342
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an actin capping protein, one of the F-actin capping protein alpha subunit family. The encoded protein is predominantly localized to the neck region of ejaculated sperm, other immunohistochemical signals were found in the tail and postacrosomal regions. The encoded protein may also form heterodimers of alpha and beta subunits. This protein may be important in determining sperm architecture and male fertility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Males homozygous for an ENU-induced mutation are infertile, exhibit low epididymal sperm concentrations, and produce sperm with abnormally shaped heads and poor motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,016,964 V282A probably benign Het
Acsm5 A G 7: 119,531,866 D169G probably damaging Het
Adam8 C T 7: 139,988,806 probably null Het
Agpat1 T C 17: 34,610,562 F37L possibly damaging Het
Asah2 A T 19: 32,016,714 D410E probably benign Het
Atg2a T A 19: 6,246,800 V378D probably benign Het
Atp1a4 T C 1: 172,254,885 Y130C possibly damaging Het
B020004J07Rik T C 4: 101,836,858 Y276C probably benign Het
Bnc2 T C 4: 84,293,076 H419R possibly damaging Het
Col6a4 C T 9: 106,068,078 D946N probably benign Het
Crat T C 2: 30,413,182 H31R probably damaging Het
Dsc2 A G 18: 20,043,733 V419A probably damaging Het
Ebf1 T C 11: 44,972,912 V363A probably damaging Het
Gm13119 A G 4: 144,362,661 K183R probably damaging Het
Lcp2 T C 11: 34,047,424 F24S probably damaging Het
Lgmn G A 12: 102,395,714 T376I probably benign Het
Lrrc8d C T 5: 105,811,864 L47F probably benign Het
Mier1 T A 4: 103,131,062 M44K possibly damaging Het
Ogfod1 C A 8: 94,062,987 Q439K probably benign Het
Olfr303 A C 7: 86,395,078 I140S possibly damaging Het
Pcgf6 A C 19: 47,047,982 F216C probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Rbbp4 A T 4: 129,317,750 H370Q probably damaging Het
Reln A G 5: 21,904,731 V3127A probably damaging Het
Rttn T A 18: 89,042,231 V1019E probably damaging Het
Serpina9 C T 12: 104,008,600 R98Q probably benign Het
Slc16a7 C A 10: 125,230,798 G324V probably damaging Het
Slc22a3 A G 17: 12,459,810 L209P probably damaging Het
Tet1 T A 10: 62,813,734 T1695S probably damaging Het
Tulp3 G A 6: 128,334,485 T74M probably damaging Het
Ube3a A G 7: 59,288,396 probably benign Het
Ufl1 A T 4: 25,281,686 S23T probably benign Het
Unc80 A G 1: 66,608,428 E1509G possibly damaging Het
Wnk2 A T 13: 49,056,940 I1801N probably damaging Het
Other mutations in Capza3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Capza3 APN 6 140042146 missense probably benign
R1953:Capza3 UTSW 6 140042568 missense possibly damaging 0.59
R4272:Capza3 UTSW 6 140042538 missense probably benign 0.33
R4278:Capza3 UTSW 6 140042060 nonsense probably null
R4421:Capza3 UTSW 6 140042042 missense probably benign
R5504:Capza3 UTSW 6 140042439 missense probably benign 0.42
R7070:Capza3 UTSW 6 140041920 missense probably damaging 1.00
R7661:Capza3 UTSW 6 140041772 missense probably benign 0.07
Posted On2015-04-16