Incidental Mutation 'IGL02457:Akap4'
ID 294444
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 # IGL02457
Quality Score
Status
Chromosome X
Chromosomal Location 6933758-6944848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 6943707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 670 (N670T)
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: N679T

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000050962
Gene: ENSMUSG00000050089
AA Change: N679T

DomainStartEndE-ValueType
AKAP_110 14 849 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115750
AA Change: N670T

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111416
Gene: ENSMUSG00000050089
AA Change: N670T

DomainStartEndE-ValueType
AKAP_110 5 840 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115751
AA Change: N670T

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000111417
Gene: ENSMUSG00000050089
AA Change: N670T

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,136,127 (GRCm39) D343G probably benign Het
Acot10 T C 15: 20,666,229 (GRCm39) S171G possibly damaging Het
Actr3b T C 5: 26,054,160 (GRCm39) probably null Het
Adamts17 T C 7: 66,677,562 (GRCm39) M492T probably damaging Het
Atrip A G 9: 108,894,299 (GRCm39) S55P possibly damaging Het
Bend3 A T 10: 43,385,946 (GRCm39) E113V probably damaging Het
Ccdc158 A C 5: 92,797,907 (GRCm39) I411S probably damaging Het
Cfap97 G T 8: 46,623,315 (GRCm39) C235F possibly damaging Het
Chil4 T C 3: 106,121,715 (GRCm39) N45D probably benign Het
Cripto C T 9: 110,771,691 (GRCm39) C32Y probably damaging Het
D430041D05Rik A G 2: 104,079,690 (GRCm39) V1131A probably damaging Het
Defb38 T C 8: 19,076,552 (GRCm39) probably benign Het
Dnah10 T A 5: 124,866,860 (GRCm39) W2260R probably damaging Het
Ecsit A G 9: 21,989,500 (GRCm39) S14P probably damaging Het
Eif3l T C 15: 78,962,296 (GRCm39) F106L probably benign Het
Erich5 G T 15: 34,470,999 (GRCm39) G76V probably damaging Het
Evpl A G 11: 116,120,939 (GRCm39) L432P possibly damaging Het
Fbxw10 T C 11: 62,765,808 (GRCm39) F698L probably damaging Het
Frem2 A T 3: 53,428,470 (GRCm39) S2866T probably damaging Het
Fuca1 G A 4: 135,662,073 (GRCm39) V334I probably benign Het
Hprt1 T A X: 52,091,010 (GRCm39) H60Q probably benign Het
Kirrel2 T C 7: 30,152,165 (GRCm39) N481S probably damaging Het
Krt16 A T 11: 100,137,162 (GRCm39) probably benign Het
Lilrb4b T A 10: 51,357,334 (GRCm39) Y57N probably benign Het
Lix1l A G 3: 96,521,792 (GRCm39) Y126C probably damaging Het
Lox T C 18: 52,654,388 (GRCm39) D347G probably damaging Het
Mak16 C T 8: 31,654,753 (GRCm39) R147Q possibly damaging Het
Ndst2 G A 14: 20,779,622 (GRCm39) A206V possibly damaging Het
Or1ak2 A T 2: 36,827,760 (GRCm39) I210F probably damaging Het
Or2q1 T A 6: 42,795,176 (GRCm39) I257N probably damaging Het
Phldb1 T C 9: 44,627,771 (GRCm39) M225V probably benign Het
Pofut1 C T 2: 153,090,516 (GRCm39) Q137* probably null Het
Polr2a T C 11: 69,634,076 (GRCm39) probably benign Het
Prdm5 T A 6: 65,858,100 (GRCm39) L388Q probably damaging Het
Rad51c A G 11: 87,271,681 (GRCm39) S344P possibly damaging Het
Scart1 G A 7: 139,800,308 (GRCm39) G30S probably benign Het
Sdk1 C T 5: 141,938,771 (GRCm39) P398L probably damaging Het
Sec63 G A 10: 42,677,729 (GRCm39) probably benign Het
Sgo1 A T 17: 53,983,989 (GRCm39) L463Q probably damaging Het
Slc5a6 A G 5: 31,198,002 (GRCm39) L291P probably damaging Het
Smarcb1 T C 10: 75,757,205 (GRCm39) T9A probably benign Het
Sp3 A G 2: 72,801,813 (GRCm39) W67R probably damaging Het
Ssxb9 A C X: 21,041,234 (GRCm39) S23A probably benign Het
Syne1 A G 10: 5,292,167 (GRCm39) L1367S probably damaging Het
Tbc1d23 T A 16: 56,990,754 (GRCm39) I690F probably damaging Het
Tmed5 A T 5: 108,272,416 (GRCm39) S227R probably benign Het
Tnrc6c T A 11: 117,613,803 (GRCm39) S814T probably benign Het
Trbv2 C T 6: 41,024,905 (GRCm39) T107I probably benign Het
Trpm6 T C 19: 18,803,155 (GRCm39) V866A probably damaging Het
Trpm6 A T 19: 18,804,762 (GRCm39) K905* probably null Het
Ttn A G 2: 76,539,654 (GRCm39) V34444A probably benign Het
Vmn1r86 C T 7: 12,836,707 (GRCm39) M56I probably benign Het
Vmn2r17 A C 5: 109,601,012 (GRCm39) D770A probably damaging Het
Wnk4 T C 11: 101,160,389 (GRCm39) probably benign Het
Xaf1 T C 11: 72,194,257 (GRCm39) M46T possibly damaging 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
IGL01101:Akap4 APN X 6,942,423 (GRCm39) missense probably benign 0.15
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 2015-04-16