Incidental Mutation 'IGL01101:Akap4'
ID 53329
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 # IGL01101
Quality Score
Status
Chromosome X
Chromosomal Location 6933758-6944848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6942423 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 242 (M242K)
Ref Sequence ENSEMBL: ENSMUSP00000111417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057101] [ENSMUST00000115750] [ENSMUST00000115751]
AlphaFold Q60662
Predicted Effect probably benign
Transcript: ENSMUST00000057101
AA Change: M251K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000050962
Gene: ENSMUSG00000050089
AA Change: M251K

DomainStartEndE-ValueType
AKAP_110 14 849 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115750
AA Change: M242K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111416
Gene: ENSMUSG00000050089
AA Change: M242K

DomainStartEndE-ValueType
AKAP_110 5 840 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115751
AA Change: M242K

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111417
Gene: ENSMUSG00000050089
AA Change: M242K

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T A 15: 94,241,923 (GRCm39) D695V probably damaging Het
Ahnak T C 19: 8,990,251 (GRCm39) probably benign Het
Cd207 T C 6: 83,652,839 (GRCm39) D97G probably benign Het
Cdc20 A G 4: 118,292,749 (GRCm39) V333A possibly damaging Het
Cdhr2 A G 13: 54,865,948 (GRCm39) probably benign Het
Cfhr1 T A 1: 139,481,322 (GRCm39) Y186F probably benign Het
Cnbd1 T A 4: 18,907,098 (GRCm39) I159F probably benign Het
Cyp2j11 A C 4: 96,227,332 (GRCm39) M228R probably benign Het
Dach1 C A 14: 98,077,640 (GRCm39) S581I possibly damaging Het
Dbnl A G 11: 5,743,722 (GRCm39) D71G possibly damaging Het
F8 T A X: 74,330,993 (GRCm39) T966S possibly damaging Het
Filip1 T A 9: 79,805,528 (GRCm39) L75F probably benign Het
Foxi2 A G 7: 135,013,736 (GRCm39) Y322C probably benign Het
Ftsj3 A G 11: 106,146,458 (GRCm39) V7A probably benign Het
Gm8362 A T 14: 18,145,196 (GRCm39) S204T probably benign Het
Ibtk C A 9: 85,614,675 (GRCm39) probably benign Het
Marf1 C T 16: 13,964,600 (GRCm39) V267I possibly damaging Het
Mmp27 T A 9: 7,573,416 (GRCm39) D169E probably damaging Het
Or10ag53 C A 2: 87,082,806 (GRCm39) T175K probably damaging Het
Or4a74 C T 2: 89,440,191 (GRCm39) C85Y probably benign Het
Or4k1 A T 14: 50,377,511 (GRCm39) M195K probably benign Het
P4ha2 G T 11: 54,010,131 (GRCm39) C296F probably damaging Het
Scart2 A T 7: 139,876,017 (GRCm39) Q543L probably benign Het
Slc38a5 T C X: 8,137,750 (GRCm39) probably benign Het
Sorbs2 G T 8: 46,198,460 (GRCm39) R36L possibly damaging Het
Tmem207 A C 16: 26,336,627 (GRCm39) Y42* probably null Het
Vmn2r115 G A 17: 23,564,971 (GRCm39) R286K probably benign Het
Other mutations in Akap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Akap4 APN X 6,942,729 (GRCm39) missense possibly damaging 0.96
IGL00510:Akap4 APN X 6,942,863 (GRCm39) missense probably damaging 1.00
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 2013-06-21