Incidental Mutation 'IGL00418:Akap4'
ID 3145
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 # IGL00418
Quality Score
Status
Chromosome X
Chromosomal Location 6933758-6944848 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 6942729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000111417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057101] [ENSMUST00000115750] [ENSMUST00000115751]
AlphaFold Q60662
Predicted Effect possibly damaging
Transcript: ENSMUST00000057101
AA Change: V353A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050962
Gene: ENSMUSG00000050089
AA Change: V353A

DomainStartEndE-ValueType
AKAP_110 14 849 N/A SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115750
AA Change: V344A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111416
Gene: ENSMUSG00000050089
AA Change: V344A

DomainStartEndE-ValueType
AKAP_110 5 840 N/A SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115751
AA Change: V344A

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000111417
Gene: ENSMUSG00000050089
AA Change: V344A

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,095,748 (GRCm39) I238T probably damaging Het
Apex2 T C X: 149,355,048 (GRCm39) K430E probably benign Het
Aqp9 C T 9: 71,040,013 (GRCm39) A90T probably damaging Het
Asb15 T A 6: 24,558,642 (GRCm39) probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Bspry G T 4: 62,414,342 (GRCm39) D312Y probably benign Het
Cdh16 G A 8: 105,350,045 (GRCm39) R5W probably benign Het
Ciz1 C T 2: 32,262,400 (GRCm39) R461C probably damaging Het
Cldn14 T A 16: 93,716,189 (GRCm39) D219V probably benign Het
Clpb A T 7: 101,436,952 (GRCm39) T706S probably benign Het
Cyp2d11 A T 15: 82,276,669 (GRCm39) M90K probably benign Het
Cyp2j8 T A 4: 96,332,853 (GRCm39) I498F possibly damaging Het
Dnah2 A G 11: 69,385,892 (GRCm39) probably benign Het
Dpyd T A 3: 118,737,891 (GRCm39) F477L probably damaging Het
Dscaml1 C A 9: 45,581,498 (GRCm39) S439* probably null Het
Faxc A G 4: 21,958,490 (GRCm39) K216E possibly damaging Het
Fmo1 C T 1: 162,663,815 (GRCm39) R238Q probably damaging Het
Gm14399 G A 2: 174,973,315 (GRCm39) R147* probably null Het
H2-Ab1 G A 17: 34,486,549 (GRCm39) V203M probably damaging Het
Heatr5b T C 17: 79,060,570 (GRCm39) E2035G probably damaging Het
Hip1 A G 5: 135,455,200 (GRCm39) I786T probably damaging Het
Homer1 T C 13: 93,524,196 (GRCm39) probably benign Het
Igkv9-120 A G 6: 68,026,971 (GRCm39) D2G possibly damaging Het
Irgm1 A T 11: 48,756,832 (GRCm39) Y326* probably null Het
Kctd19 A T 8: 106,115,095 (GRCm39) probably null Het
Large1 T C 8: 73,550,469 (GRCm39) probably null Het
Mzf1 G A 7: 12,778,543 (GRCm39) A287V possibly damaging Het
Nes A T 3: 87,883,561 (GRCm39) K607* probably null Het
Pars2 T A 4: 106,511,247 (GRCm39) V307E probably damaging Het
Pcsk5 T A 19: 17,488,785 (GRCm39) I1012F possibly damaging Het
Pole T C 5: 110,451,431 (GRCm39) probably benign Het
Rbm14 T C 19: 4,852,576 (GRCm39) probably benign Het
Scn2a A T 2: 65,594,866 (GRCm39) Q1905L probably benign Het
Slc26a2 A G 18: 61,331,812 (GRCm39) F540L probably benign Het
Slco2a1 T C 9: 102,956,640 (GRCm39) probably benign Het
Tas2r106 T C 6: 131,654,922 (GRCm39) probably null Het
Tmem175 T A 5: 108,793,732 (GRCm39) D287E probably benign Het
Trappc12 T C 12: 28,787,835 (GRCm39) K416R probably damaging Het
Trim2 A G 3: 84,115,596 (GRCm39) L86P probably damaging Het
Vps13c T A 9: 67,783,544 (GRCm39) N240K probably damaging Het
Wdr90 A C 17: 26,068,338 (GRCm39) I1330S probably damaging Het
Wfdc6a A G 2: 164,426,914 (GRCm39) probably null Het
Zc3h12c C T 9: 52,027,965 (GRCm39) V466M probably damaging Het
Zswim8 A G 14: 20,768,543 (GRCm39) T1025A probably damaging Het
Other mutations in Akap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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