Incidental Mutation 'IGL00510:Akap4'
ID 3144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap4
Ensembl Gene ENSMUSG00000050089
Gene Name A kinase anchor protein 4
Synonyms Fsc1
Accession Numbers
Essential gene? Not available question?
Stock # IGL00510
Quality Score
Status
Chromosome X
Chromosomal Location 6933758-6944848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6942863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 389 (T389A)
Ref Sequence ENSEMBL: ENSMUSP00000111417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057101] [ENSMUST00000115750] [ENSMUST00000115751]
AlphaFold Q60662
Predicted Effect probably damaging
Transcript: ENSMUST00000057101
AA Change: T398A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050962
Gene: ENSMUSG00000050089
AA Change: T398A

DomainStartEndE-ValueType
AKAP_110 14 849 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115750
AA Change: T389A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111416
Gene: ENSMUSG00000050089
AA Change: T389A

DomainStartEndE-ValueType
AKAP_110 5 840 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115751
AA Change: T389A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111417
Gene: ENSMUSG00000050089
AA Change: T389A

DomainStartEndE-ValueType
AKAP_110 5 840 N/A SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is localized to the sperm flagellum and may be involved in the regulation of sperm motility. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Inactivation of this locus results in male infertility due to impaired sperm motility. Heterozygous mutant females show no reproductive defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 137,995,668 (GRCm39) N357S probably damaging Het
Aldh3a1 A G 11: 61,104,422 (GRCm39) E103G probably damaging Het
Aldh3b3 C A 19: 4,015,863 (GRCm39) Q278K probably benign Het
Ap3m2 A T 8: 23,287,243 (GRCm39) probably null Het
Asxl3 G T 18: 22,656,622 (GRCm39) C1544F probably damaging Het
Chd7 A G 4: 8,801,404 (GRCm39) D716G probably damaging Het
Dennd1b G T 1: 139,029,809 (GRCm39) R322L probably damaging Het
Dnah7a C T 1: 53,540,701 (GRCm39) V2558M probably damaging Het
Fbp2 T C 13: 62,989,698 (GRCm39) I203V possibly damaging Het
Gnai1 T A 5: 18,496,617 (GRCm39) D102V probably benign Het
Gtf2h1 C T 7: 46,468,634 (GRCm39) T524I possibly damaging Het
Hinfp G A 9: 44,209,063 (GRCm39) R352C probably damaging Het
Lpin1 G A 12: 16,603,993 (GRCm39) H613Y probably benign Het
Med29 C T 7: 28,090,266 (GRCm39) A110T possibly damaging Het
Myo9a T C 9: 59,739,464 (GRCm39) probably benign Het
Nlgn1 G T 3: 25,490,654 (GRCm39) P329T probably benign Het
Osmr G T 15: 6,853,112 (GRCm39) Y593* probably null Het
Otx2 T C 14: 48,896,192 (GRCm39) T289A probably benign Het
Pkn2 T C 3: 142,504,780 (GRCm39) T799A probably damaging Het
Plcb1 T A 2: 135,093,676 (GRCm39) V163D possibly damaging Het
Rgs3 G A 4: 62,619,417 (GRCm39) A501T possibly damaging Het
Rnf103 T C 6: 71,486,733 (GRCm39) S455P probably damaging Het
Slc9c1 A G 16: 45,360,002 (GRCm39) T19A probably benign Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Spryd7 T A 14: 61,783,190 (GRCm39) N111Y probably damaging Het
Zfp687 A G 3: 94,915,758 (GRCm39) S1005P probably damaging Het
Other mutations in Akap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Akap4 APN X 6,942,729 (GRCm39) missense possibly damaging 0.96
IGL01101:Akap4 APN X 6,942,423 (GRCm39) missense probably benign 0.15
IGL02457:Akap4 APN X 6,943,707 (GRCm39) missense probably benign 0.10
R1974:Akap4 UTSW X 6,943,595 (GRCm39) missense probably benign 0.30
X0025:Akap4 UTSW X 6,939,893 (GRCm39) missense possibly damaging 0.77
Z1176:Akap4 UTSW X 6,944,599 (GRCm39) nonsense probably null
Posted On 2012-04-20