Incidental Mutation 'IGL02138:Capza3'
ID 281404
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Capza3
Ensembl Gene ENSMUSG00000041791
Gene Name capping actin protein of muscle Z-line subunit alpha 3
Synonyms Tex8, repro32, cp alpha3, Gsg3, Cappa3, 510-4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL02138
Quality Score
Status
Chromosome 6
Chromosomal Location 139987283-139988563 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 139987872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 157 (D157G)
Ref Sequence ENSEMBL: ENSMUSP00000038562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032356] [ENSMUST00000043797] [ENSMUST00000129986] [ENSMUST00000137148] [ENSMUST00000149931]
AlphaFold P70190
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: D157G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000038562
Gene: ENSMUSG00000041791
AA Change: D157G

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T G 14: 32,384,672 (GRCm39) D431A possibly damaging Het
Adgrb1 T C 15: 74,401,631 (GRCm39) M209T probably damaging Het
Ano8 T C 8: 71,937,486 (GRCm39) H86R probably damaging Het
Camk1d G T 2: 5,449,895 (GRCm39) Y87* probably null Het
Ckmt2 A T 13: 92,009,947 (GRCm39) D124E probably benign Het
Col14a1 C A 15: 55,284,231 (GRCm39) Q831K unknown Het
Copb2 C T 9: 98,469,605 (GRCm39) P829S probably benign Het
Dlg5 A G 14: 24,208,419 (GRCm39) V929A probably benign Het
Dolk A G 2: 30,175,991 (GRCm39) V18A probably benign Het
Ecm2 G T 13: 49,676,304 (GRCm39) L340F probably damaging Het
Hacl1 A G 14: 31,352,940 (GRCm39) L149P probably benign Het
Higd2a A T 13: 54,738,235 (GRCm39) probably null Het
Hspa12a A T 19: 58,816,730 (GRCm39) S28R probably benign Het
Igkv5-37 A G 6: 69,940,435 (GRCm39) Y70H probably damaging Het
Iho1 G A 9: 108,283,820 (GRCm39) T208I probably benign Het
Kif11 T C 19: 37,373,057 (GRCm39) V92A probably damaging Het
Kif26a T C 12: 112,141,284 (GRCm39) S696P probably damaging Het
Kng1 A T 16: 22,886,558 (GRCm39) N168Y probably damaging Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lepr A G 4: 101,625,264 (GRCm39) D473G probably damaging Het
Lipt1 G A 1: 37,914,867 (GRCm39) E308K possibly damaging Het
Luc7l3 A T 11: 94,194,792 (GRCm39) F76Y probably benign Het
Mapk1 A G 16: 16,841,316 (GRCm39) I163V probably benign Het
Matn3 A G 12: 9,017,638 (GRCm39) E430G possibly damaging Het
Med13 A T 11: 86,177,591 (GRCm39) S1502T probably damaging Het
Mlf1 A T 3: 67,307,046 (GRCm39) H237L probably benign Het
Mss51 A C 14: 20,534,923 (GRCm39) Y282* probably null Het
Ncoa3 A G 2: 165,897,182 (GRCm39) T658A probably benign Het
Or1p1c A T 11: 74,160,544 (GRCm39) M110L probably benign Het
Or7d11 A T 9: 19,966,196 (GRCm39) S188T probably benign Het
Phrf1 T A 7: 140,839,196 (GRCm39) probably benign Het
Ppme1 C T 7: 99,983,139 (GRCm39) M335I probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sntg2 T A 12: 30,357,230 (GRCm39) probably null Het
Spryd3 T C 15: 102,027,354 (GRCm39) probably benign Het
Srpx A G X: 9,933,662 (GRCm39) probably null Het
St8sia1 G T 6: 142,909,504 (GRCm39) probably benign Het
Stab1 A G 14: 30,865,470 (GRCm39) probably null Het
Sycp2 A T 2: 178,000,047 (GRCm39) S976R probably benign Het
Sycp2 T A 2: 178,043,783 (GRCm39) K108* probably null Het
Tagap1 T C 17: 7,223,485 (GRCm39) T404A probably damaging Het
Tg C T 15: 66,589,082 (GRCm39) T21I probably benign Het
Tlr4 A T 4: 66,759,202 (GRCm39) Y665F probably damaging Het
Tmc8 T G 11: 117,682,081 (GRCm39) S525A probably benign Het
Tor4a A T 2: 25,084,810 (GRCm39) D364E probably benign Het
Trim44 T C 2: 102,211,253 (GRCm39) I236V probably benign Het
Ube2o A G 11: 116,434,226 (GRCm39) probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Xirp2 A T 2: 67,347,300 (GRCm39) R3180S probably benign Het
Zfp335 A G 2: 164,735,724 (GRCm39) C1077R probably damaging Het
Other mutations in Capza3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02228:Capza3 APN 6 139,987,641 (GRCm39) missense probably benign
R1953:Capza3 UTSW 6 139,988,294 (GRCm39) missense possibly damaging 0.59
R4272:Capza3 UTSW 6 139,988,264 (GRCm39) missense probably benign 0.33
R4278:Capza3 UTSW 6 139,987,786 (GRCm39) nonsense probably null
R4421:Capza3 UTSW 6 139,987,768 (GRCm39) missense probably benign
R5504:Capza3 UTSW 6 139,988,165 (GRCm39) missense probably benign 0.42
R7070:Capza3 UTSW 6 139,987,646 (GRCm39) missense probably damaging 1.00
R7661:Capza3 UTSW 6 139,987,498 (GRCm39) missense probably benign 0.07
R8881:Capza3 UTSW 6 139,987,521 (GRCm39) missense probably damaging 1.00
R9595:Capza3 UTSW 6 139,987,712 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16