Incidental Mutation 'IGL03289:Akap10'
ID415843
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: 0.757) question?
Stock #IGL03289
Quality Score
Status
Chromosome11
Chromosomal Location61871307-61930252 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 61877968 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102650]
Predicted Effect probably benign
Transcript: ENSMUST00000102650
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804

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 noncoding transcript
Transcript: ENSMUST00000137323
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 A G 5: 4,077,261 Y3703C probably damaging Het
Ankk1 A G 9: 49,415,695 V728A probably benign Het
B3galt2 T C 1: 143,647,304 Y393H probably damaging Het
Cd163l1 T C 7: 140,229,060 probably null Het
Clcn4 T A 7: 7,284,258 I664F probably damaging Het
Clec2e A T 6: 129,098,455 I41N probably damaging Het
Col2a1 A T 15: 97,980,881 N845K unknown Het
Cubn T G 2: 13,426,967 I1272L probably benign Het
Dnajc5 T C 2: 181,547,467 Y79H probably damaging Het
Eml6 G T 11: 29,795,328 A1006E possibly damaging Het
Igsf5 A T 16: 96,525,432 D271V possibly damaging Het
Kalrn G A 16: 34,385,297 A70V possibly damaging Het
Kcnn2 A T 18: 45,677,044 K309N probably damaging Het
Lrch4 T C 5: 137,633,577 S22P probably damaging Het
Mcpt2 A T 14: 56,044,337 I215F probably damaging Het
Mrc1 T C 2: 14,308,823 probably null Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Olfr364-ps1 C T 2: 37,146,578 A122V probably damaging Het
Osbp2 A G 11: 3,863,380 V163A probably benign Het
Pla2g6 G A 15: 79,317,785 P62L probably damaging Het
Senp1 G T 15: 98,085,045 H20Q probably damaging Het
Slc16a6 A G 11: 109,463,499 Y31H probably damaging Het
Thbs2 T A 17: 14,690,122 N72Y probably benign Het
Usp34 T A 11: 23,393,818 S1366T possibly damaging Het
Vmn1r216 T A 13: 23,100,012 D288E possibly damaging Het
Vmn2r11 T C 5: 109,048,922 probably benign Het
Vnn3 A T 10: 23,865,837 S347C possibly damaging Het
Yme1l1 T C 2: 23,160,268 V37A probably benign Het
Zfp597 A T 16: 3,865,922 D323E possibly damaging Het
Other mutations in Akap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Akap10 APN 11 61915071 missense possibly damaging 0.85
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
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
R7986:Akap10 UTSW 11 61930064 missense probably damaging 1.00
R8079:Akap10 UTSW 11 61930054 missense possibly damaging 0.93
Z1186:Akap10 UTSW 11 61915270 missense probably benign 0.00
Z1187:Akap10 UTSW 11 61915270 missense probably benign 0.00
Z1188:Akap10 UTSW 11 61915270 missense probably benign 0.00
Z1189:Akap10 UTSW 11 61915270 missense probably benign 0.00
Z1190:Akap10 UTSW 11 61915270 missense probably benign 0.00
Z1191:Akap10 UTSW 11 61915270 missense probably benign 0.00
Z1192:Akap10 UTSW 11 61915270 missense probably benign 0.00
Posted On2016-08-02