Incidental Mutation 'IGL01920:Akap7'
ID 180076
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap7
Ensembl Gene ENSMUSG00000039166
Gene Name A kinase anchor protein 7
Synonyms AKAP15, Akap18
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01920
Quality Score
Status
Chromosome 10
Chromosomal Location 25044988-25175115 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 25165501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 85 (C85*)
Ref Sequence ENSEMBL: ENSMUSP00000135137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041984] [ENSMUST00000095779] [ENSMUST00000176231] [ENSMUST00000176258] [ENSMUST00000177124]
AlphaFold Q7TN79
Predicted Effect probably null
Transcript: ENSMUST00000041984
AA Change: C12*
SMART Domains Protein: ENSMUSP00000043624
Gene: ENSMUSG00000039166
AA Change: C12*

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Pfam:AKAP7_NLS 51 249 2.1e-52 PFAM
Pfam:AKAP7_RIRII_bdg 255 312 1.9e-35 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000095779
AA Change: C12*
SMART Domains Protein: ENSMUSP00000093455
Gene: ENSMUSG00000039166
AA Change: C12*

DomainStartEndE-ValueType
PDB:3J4R|A 1 63 6e-17 PDB
Predicted Effect probably null
Transcript: ENSMUST00000176231
AA Change: C12*
Predicted Effect probably null
Transcript: ENSMUST00000176258
AA Change: C12*
SMART Domains Protein: ENSMUSP00000135037
Gene: ENSMUSG00000039166
AA Change: C12*

DomainStartEndE-ValueType
low complexity region 34 48 N/A INTRINSIC
Pfam:AKAP7_NLS 51 142 5.3e-24 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177124
AA Change: C85*
SMART Domains Protein: ENSMUSP00000135137
Gene: ENSMUSG00000039166
AA Change: C85*

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
PDB:3J4R|A 37 126 1e-24 PDB
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 a member of the A-kinase anchoring protein (AKAP) family, a group of functionally related proteins that bind to a regulatory subunit (RII) of cAMP-dependent protein kinase A (PKA) and target the enzyme to specific subcellular compartments. AKAPs have a common RII-binding domain, but contain different targeting motifs responsible for directing PKA to distinct intracellular locations. Three alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and show normal cardiomyocyte response to adrenergic stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 C T 8: 111,769,878 (GRCm39) R326W probably damaging Het
Acad11 T C 9: 103,941,104 (GRCm39) probably null Het
Acat2 A G 17: 13,162,912 (GRCm39) I312T probably benign Het
Adgrl3 T C 5: 81,613,143 (GRCm39) V192A probably damaging Het
Akap1 T C 11: 88,730,459 (GRCm39) H643R probably damaging Het
Ankrd11 T C 8: 123,642,636 (GRCm39) probably benign Het
Ano1 G A 7: 144,165,191 (GRCm39) probably benign Het
Csnk1g2 T C 10: 80,474,262 (GRCm39) L161P probably damaging Het
Dvl2 A G 11: 69,898,873 (GRCm39) H420R probably benign Het
Fam135b G T 15: 71,493,885 (GRCm39) H15N possibly damaging Het
Foxj1 G T 11: 116,222,746 (GRCm39) H352Q possibly damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Hectd1 T C 12: 51,829,337 (GRCm39) I969M probably damaging Het
Kcnh3 C A 15: 99,131,258 (GRCm39) P544T probably benign Het
Or7g35 A C 9: 19,496,318 (GRCm39) M162L probably benign Het
Pcnt A G 10: 76,240,362 (GRCm39) L1224P probably damaging Het
Prss2 A G 6: 41,501,477 (GRCm39) N182S possibly damaging Het
Sgsm1 A T 5: 113,421,471 (GRCm39) W594R probably damaging Het
Slc38a1 C T 15: 96,484,778 (GRCm39) A261T probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Vcan C T 13: 89,837,324 (GRCm39) G2740E probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vwa7 G A 17: 35,243,579 (GRCm39) V729I probably benign Het
Other mutations in Akap7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Akap7 APN 10 25,047,138 (GRCm39) missense probably benign 0.00
IGL01638:Akap7 APN 10 25,143,323 (GRCm39) missense probably damaging 1.00
IGL03145:Akap7 APN 10 25,115,565 (GRCm39) missense probably damaging 1.00
ANU05:Akap7 UTSW 10 25,147,451 (GRCm39) missense probably damaging 1.00
R0304:Akap7 UTSW 10 25,147,450 (GRCm39) missense probably damaging 1.00
R1412:Akap7 UTSW 10 25,165,495 (GRCm39) critical splice donor site probably null
R1791:Akap7 UTSW 10 25,115,583 (GRCm39) missense probably benign
R2158:Akap7 UTSW 10 25,047,062 (GRCm39) missense probably damaging 1.00
R5084:Akap7 UTSW 10 25,155,640 (GRCm39) unclassified probably benign
R5533:Akap7 UTSW 10 25,159,880 (GRCm39) missense possibly damaging 0.90
R6222:Akap7 UTSW 10 25,159,844 (GRCm39) nonsense probably null
R7195:Akap7 UTSW 10 25,147,405 (GRCm39) missense probably damaging 0.97
R7261:Akap7 UTSW 10 25,147,416 (GRCm39) missense possibly damaging 0.70
R7343:Akap7 UTSW 10 25,165,567 (GRCm39) start gained probably benign
R7785:Akap7 UTSW 10 25,096,559 (GRCm39) missense probably damaging 1.00
R8258:Akap7 UTSW 10 25,047,054 (GRCm39) missense probably damaging 1.00
R8259:Akap7 UTSW 10 25,047,054 (GRCm39) missense probably damaging 1.00
R9127:Akap7 UTSW 10 25,155,676 (GRCm39) missense unknown
R9154:Akap7 UTSW 10 25,047,053 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07