Incidental Mutation 'IGL00809:Akap10'
ID8703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap10
Ensembl Gene ENSMUSG00000047804
Gene NameA kinase (PRKA) anchor protein 10
SynonymsB130049N18Rik, 1500031L16Rik, D-AKAP2
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.793) question?
Stock #IGL00809
Quality Score
Status
Chromosome11
Chromosomal Location61871307-61930252 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 61915071 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 277 (N277I)
Ref Sequence ENSEMBL: ENSMUSP00000104350 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058173] [ENSMUST00000102650] [ENSMUST00000108710]
Predicted Effect possibly damaging
Transcript: ENSMUST00000058173
AA Change: N198I

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054418
Gene: ENSMUSG00000047804
AA Change: N198I

DomainStartEndE-ValueType
RGS 46 290 1.82e-30 SMART
RGS 300 426 9.62e-30 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000102650
AA Change: N277I

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: N277I

DomainStartEndE-ValueType
RGS 125 369 1.82e-30 SMART
RGS 379 505 9.62e-30 SMART
PDB:3TMH|L 623 662 2e-18 PDB
Blast:S_TKc 636 661 1e-5 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000108710
AA Change: N277I

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104350
Gene: ENSMUSG00000047804
AA Change: N277I

DomainStartEndE-ValueType
RGS 125 369 1.82e-30 SMART
RGS 379 505 9.62e-30 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is localized to mitochondria and interacts with both the type I and type II regulatory subunits of PKA. It has been reported that this protein is important for maintaining heart rate and myocardial contractility through its targeting of protein kinase A. In mouse, defects of this gene lead to cardiac arrhythmias and premature death. In humans, polymorphisms in this gene may be associated with increased risk of arrhythmias and sudden cardiac death. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele display sinus arrhythmia, sinus pauses, and atrioventricular heart block indicating excessive vagus nerve sensitivity; about 50% of homozygous and 25% of heterozygous mutant mice die in the first year of life, and survival is sensitive to genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,235,786 T113A possibly damaging Het
Ankrd24 A T 10: 81,643,067 probably benign Het
Bfsp2 T C 9: 103,453,098 E180G possibly damaging Het
Cd55 A T 1: 130,452,511 Y243* probably null Het
Col17a1 G T 19: 47,681,403 H103Q probably damaging Het
Diaph3 A T 14: 87,000,027 H311Q probably damaging Het
Dnah1 G A 14: 31,300,809 Q1124* probably null Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Fzr1 G T 10: 81,370,525 S137* probably null Het
Gnl3 A G 14: 31,014,189 I298T possibly damaging Het
Hnrnpa2b1 C T 6: 51,467,013 G65S probably damaging Het
Hsd17b7 A T 1: 169,965,755 Y88* probably null Het
Itga2 C A 13: 114,877,625 A256S probably damaging Het
Itga7 T C 10: 128,939,169 probably null Het
Ivl T A 3: 92,572,512 Q82L possibly damaging Het
Lin28a C T 4: 134,008,056 G90S probably damaging Het
Lkaaear1 A T 2: 181,697,334 S108T probably benign Het
Mfsd11 T A 11: 116,859,351 S105T probably damaging Het
Mpp6 C T 6: 50,196,589 R478C probably benign Het
Osbpl9 C T 4: 109,133,763 R100H probably damaging Het
Pclo T A 5: 14,675,797 D1556E unknown Het
Phip G A 9: 82,871,303 S1796F probably damaging Het
Phtf1 T C 3: 103,988,667 S226P probably benign Het
Rapgef6 C A 11: 54,649,300 Q734K probably damaging Het
Scn9a A T 2: 66,483,935 I1802N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Stab2 A T 10: 86,848,174 probably benign Het
Trpc7 T C 13: 56,822,488 I373V probably benign Het
Ttbk2 T A 2: 120,760,269 D303V probably damaging Het
Ylpm1 T C 12: 85,049,194 I1163T probably damaging Het
Other mutations in Akap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Akap10 APN 11 61904796 missense possibly damaging 0.68
IGL01510:Akap10 APN 11 61878020 missense possibly damaging 0.74
IGL02731:Akap10 APN 11 61893476 missense possibly damaging 0.78
IGL03289:Akap10 APN 11 61877968 splice site probably benign
IGL03294:Akap10 APN 11 61877353 missense probably damaging 1.00
IGL03403:Akap10 APN 11 61915273 missense probably benign 0.00
P4748:Akap10 UTSW 11 61873020 missense possibly damaging 0.86
R0924:Akap10 UTSW 11 61904863 splice site probably benign
R1324:Akap10 UTSW 11 61915021 splice site probably null
R2117:Akap10 UTSW 11 61890303 missense possibly damaging 0.73
R2243:Akap10 UTSW 11 61915501 missense possibly damaging 0.56
R2402:Akap10 UTSW 11 61915222 missense probably benign
R2567:Akap10 UTSW 11 61893349 intron probably benign
R3745:Akap10 UTSW 11 61915305 missense probably benign
R5124:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R5126:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R5180:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R5219:Akap10 UTSW 11 61922791 missense probably benign
R5324:Akap10 UTSW 11 61916189 missense probably damaging 1.00
R6753:Akap10 UTSW 11 61886777 missense probably damaging 0.96
R7121:Akap10 UTSW 11 61886698 critical splice donor site probably null
R7763:Akap10 UTSW 11 61915505 missense probably damaging 1.00
R7867:Akap10 UTSW 11 61900446 missense probably damaging 1.00
R7950:Akap10 UTSW 11 61900446 missense probably damaging 1.00
Posted On2012-12-06