Incidental Mutation 'IGL00421:Akap8'
ID3878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap8
Ensembl Gene ENSMUSG00000024045
Gene NameA kinase (PRKA) anchor protein 8
Synonyms1200016A02Rik, AKAP95
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00421
Quality Score
Status
Chromosome17
Chromosomal Location32303676-32321153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32317280 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 53 (Y53C)
Ref Sequence ENSEMBL: ENSMUSP00000002699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002699] [ENSMUST00000050214]
Predicted Effect probably damaging
Transcript: ENSMUST00000002699
AA Change: Y53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: Y53C

DomainStartEndE-ValueType
SCOP:d1a0tp_ 12 108 3e-19 SMART
low complexity region 183 198 N/A INTRINSIC
low complexity region 257 270 N/A INTRINSIC
low complexity region 354 384 N/A INTRINSIC
ZnF_C2H2 387 411 9.46e0 SMART
Blast:ZnF_C2H2 476 501 9e-9 BLAST
low complexity region 551 582 N/A INTRINSIC
low complexity region 642 651 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050214
SMART Domains Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625

DomainStartEndE-ValueType
low complexity region 37 62 N/A INTRINSIC
low complexity region 78 93 N/A INTRINSIC
low complexity region 112 120 N/A INTRINSIC
low complexity region 236 257 N/A INTRINSIC
low complexity region 296 306 N/A INTRINSIC
low complexity region 307 324 N/A INTRINSIC
low complexity region 330 350 N/A INTRINSIC
coiled coil region 356 383 N/A INTRINSIC
ZnF_C2H2 389 413 1.05e1 SMART
SCOP:d1jvr__ 538 613 7e-5 SMART
low complexity region 628 640 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the A-kinase anchoring protein (AKAP) family. These proteins are characterized by their ability to bind to the R subunit of protein kinase A (PKA) and anchor the protein at different subcellular locations. This protein has been shown to regulate apoptosis and to be involved in palatogenesis. Knockdown of this gene has been associated with altered histone modifications and reduced expression of developmental genes in mouse embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a gene trap insertion are viable and overtly normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ampd3 C T 7: 110,803,147 R453C probably benign Het
Apob A C 12: 8,010,197 D2860A probably damaging Het
Arhgef1 C A 7: 24,908,359 R52S possibly damaging Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Cacna1i A T 15: 80,382,019 D1569V probably damaging Het
Clic6 A T 16: 92,499,308 E285D probably damaging Het
Dok5 T G 2: 170,829,956 probably null Het
Gm10436 A T 12: 88,177,112 D310E probably benign Het
Gpr89 A G 3: 96,898,523 F24S probably damaging Het
Grsf1 T C 5: 88,670,278 D84G probably damaging Het
Kif27 T C 13: 58,343,889 K479E probably damaging Het
Mx2 A T 16: 97,544,478 N32I probably damaging Het
Myo16 G T 8: 10,438,889 V687F probably damaging Het
Nlrp3 A G 11: 59,565,943 D977G probably damaging Het
Nol6 A T 4: 41,123,374 V97E possibly damaging Het
Pcdh15 T A 10: 74,185,345 Y130* probably null Het
Pnpla7 T A 2: 24,976,315 probably null Het
Prcc A T 3: 87,872,208 probably null Het
Sbf2 A C 7: 110,375,832 probably benign Het
Secisbp2l C A 2: 125,743,856 V859F probably damaging Het
Sptbn2 C A 19: 4,724,705 Q129K possibly damaging Het
Srrm2 G A 17: 23,812,478 S295N probably benign Het
Tacr3 A C 3: 134,854,821 I174L probably benign Het
Tchp A C 5: 114,708,733 D27A probably benign Het
Usp31 A T 7: 121,648,650 V1190D probably damaging Het
Zfp462 A G 4: 55,023,576 T2122A probably benign Het
Other mutations in Akap8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01450:Akap8 APN 17 32315687 missense probably damaging 1.00
IGL02002:Akap8 APN 17 32309496 missense probably damaging 1.00
IGL02223:Akap8 APN 17 32316647 missense probably damaging 1.00
IGL02315:Akap8 APN 17 32305501 missense probably benign 0.01
IGL03404:Akap8 APN 17 32312276 splice site probably benign
R0310:Akap8 UTSW 17 32316260 missense possibly damaging 0.81
R0526:Akap8 UTSW 17 32317292 missense probably benign 0.28
R1795:Akap8 UTSW 17 32315477 missense probably damaging 1.00
R1992:Akap8 UTSW 17 32316612 missense probably damaging 0.99
R2571:Akap8 UTSW 17 32315455 missense probably damaging 1.00
R2918:Akap8 UTSW 17 32305648 missense probably benign 0.01
R3423:Akap8 UTSW 17 32316455 missense possibly damaging 0.61
R3870:Akap8 UTSW 17 32317839 unclassified probably benign
R4077:Akap8 UTSW 17 32312298 missense probably damaging 1.00
R4078:Akap8 UTSW 17 32312298 missense probably damaging 1.00
R4379:Akap8 UTSW 17 32306560 missense probably damaging 0.99
R4756:Akap8 UTSW 17 32316210 missense probably damaging 0.98
R4819:Akap8 UTSW 17 32312305 missense probably damaging 1.00
R5091:Akap8 UTSW 17 32316234 missense probably benign 0.05
R5761:Akap8 UTSW 17 32317185 missense possibly damaging 0.56
R6896:Akap8 UTSW 17 32317331 missense probably benign 0.00
R7138:Akap8 UTSW 17 32316541 missense possibly damaging 0.86
R7350:Akap8 UTSW 17 32316575 missense possibly damaging 0.92
X0020:Akap8 UTSW 17 32315750 missense probably benign 0.08
Posted On2012-04-20