Incidental Mutation 'IGL03294:Akap10'
ID 415995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap10
Ensembl Gene ENSMUSG00000047804
Gene Name A kinase anchor protein 10
Synonyms B130049N18Rik, D-AKAP2, 1500031L16Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.718) question?
Stock # IGL03294
Quality Score
Status
Chromosome 11
Chromosomal Location 61762133-61821078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61768179 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 646 (V646D)
Ref Sequence ENSEMBL: ENSMUSP00000099710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102650]
AlphaFold O88845
Predicted Effect probably damaging
Transcript: ENSMUST00000102650
AA Change: V646D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099710
Gene: ENSMUSG00000047804
AA Change: V646D

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,047,315 (GRCm39) M119L probably benign Het
Aldh3a1 A G 11: 61,105,548 (GRCm39) Y218C probably damaging Het
Arfgef3 T A 10: 18,540,660 (GRCm39) L174F probably damaging Het
Arhgef6 T C X: 56,382,338 (GRCm39) K99E possibly damaging Het
Atp9a T C 2: 168,531,225 (GRCm39) K163E probably benign Het
Birc6 C T 17: 74,956,881 (GRCm39) A3605V probably benign Het
C8b G A 4: 104,637,888 (GRCm39) R120Q probably benign Het
Ccr1l1 A C 9: 123,778,444 (GRCm39) M1R probably null Het
Clca3a2 A G 3: 144,803,530 (GRCm39) S105P probably damaging Het
Cntnap1 A G 11: 101,072,508 (GRCm39) T502A possibly damaging Het
Ddx10 C T 9: 53,028,452 (GRCm39) probably null Het
Dnah5 G A 15: 28,233,441 (GRCm39) probably null Het
Dock9 A T 14: 121,879,035 (GRCm39) probably benign Het
Gli2 A G 1: 118,765,166 (GRCm39) V995A probably benign Het
Gpr34 T C X: 13,505,788 (GRCm39) Y106H probably damaging Het
Kmt2a A T 9: 44,731,862 (GRCm39) probably benign Het
Lamc1 C A 1: 153,138,392 (GRCm39) R154L probably damaging Het
Mat1a T A 14: 40,827,561 (GRCm39) V5E probably benign Het
Meioc A T 11: 102,571,495 (GRCm39) E943V probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Nav2 C T 7: 49,141,205 (GRCm39) R917* probably null Het
Or4f47 T C 2: 111,972,518 (GRCm39) I76T probably benign Het
Or7g32 T C 9: 19,389,285 (GRCm39) N87S possibly damaging Het
Pcsk9 T A 4: 106,303,967 (GRCm39) I506L probably benign Het
Phf14 T A 6: 11,953,366 (GRCm39) D368E probably damaging Het
Phka1 C A X: 101,580,819 (GRCm39) S964I probably damaging Het
Pikfyve G A 1: 65,286,226 (GRCm39) R1155Q probably damaging Het
Plin2 C T 4: 86,580,315 (GRCm39) V60M probably damaging Het
Ptpn9 A G 9: 56,934,671 (GRCm39) Q145R possibly damaging Het
Sap30 A G 8: 57,940,335 (GRCm39) I89T probably damaging Het
Sec61a2 T C 2: 5,881,276 (GRCm39) probably null Het
Slc34a2 A C 5: 53,221,340 (GRCm39) D262A probably benign Het
Slc6a3 G A 13: 73,705,300 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,400 (GRCm39) T63S probably benign Het
Tbx10 A T 19: 4,048,571 (GRCm39) probably benign Het
Tie1 A T 4: 118,337,420 (GRCm39) N501K probably damaging Het
Tmprss11f A T 5: 86,685,966 (GRCm39) Y134N probably damaging Het
Uevld A T 7: 46,580,778 (GRCm39) D361E possibly damaging Het
Ugt1a5 A C 1: 88,094,537 (GRCm39) D255A probably damaging Het
Vmn2r11 A G 5: 109,201,935 (GRCm39) F190L probably benign Het
Wfs1 G A 5: 37,132,941 (GRCm39) R113C probably damaging Het
Yipf5 T G 18: 40,339,449 (GRCm39) M206L probably benign Het
Zbtb10 A G 3: 9,346,047 (GRCm39) D847G probably benign Het
Zfp786 T A 6: 47,798,258 (GRCm39) K227* probably null Het
Other mutations in Akap10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Akap10 APN 11 61,805,897 (GRCm39) missense possibly damaging 0.85
IGL00971:Akap10 APN 11 61,795,622 (GRCm39) missense possibly damaging 0.68
IGL01510:Akap10 APN 11 61,768,846 (GRCm39) missense possibly damaging 0.74
IGL02731:Akap10 APN 11 61,784,302 (GRCm39) missense possibly damaging 0.78
IGL03289:Akap10 APN 11 61,768,794 (GRCm39) splice site probably benign
IGL03403:Akap10 APN 11 61,806,099 (GRCm39) missense probably benign 0.00
P4748:Akap10 UTSW 11 61,763,846 (GRCm39) missense possibly damaging 0.86
R0924:Akap10 UTSW 11 61,795,689 (GRCm39) splice site probably benign
R1324:Akap10 UTSW 11 61,805,847 (GRCm39) splice site probably null
R2117:Akap10 UTSW 11 61,781,129 (GRCm39) missense possibly damaging 0.73
R2243:Akap10 UTSW 11 61,806,327 (GRCm39) missense possibly damaging 0.56
R2402:Akap10 UTSW 11 61,806,048 (GRCm39) missense probably benign
R2567:Akap10 UTSW 11 61,784,175 (GRCm39) intron probably benign
R3745:Akap10 UTSW 11 61,806,131 (GRCm39) missense probably benign
R5124:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R5126:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R5180:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R5219:Akap10 UTSW 11 61,813,617 (GRCm39) missense probably benign
R5324:Akap10 UTSW 11 61,807,015 (GRCm39) missense probably damaging 1.00
R6753:Akap10 UTSW 11 61,777,603 (GRCm39) missense probably damaging 0.96
R7121:Akap10 UTSW 11 61,777,524 (GRCm39) critical splice donor site probably null
R7763:Akap10 UTSW 11 61,806,331 (GRCm39) missense probably damaging 1.00
R7867:Akap10 UTSW 11 61,791,272 (GRCm39) missense probably damaging 1.00
R7986:Akap10 UTSW 11 61,820,890 (GRCm39) missense probably damaging 1.00
R8079:Akap10 UTSW 11 61,820,880 (GRCm39) missense possibly damaging 0.93
R9321:Akap10 UTSW 11 61,791,235 (GRCm39) missense probably damaging 1.00
R9732:Akap10 UTSW 11 61,787,545 (GRCm39) missense probably damaging 1.00
Z1186:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1187:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1188:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1189:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1190:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1191:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Z1192:Akap10 UTSW 11 61,806,096 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02