Incidental Mutation 'IGL00235:Akap3'
ID 2370
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap3
Ensembl Gene ENSMUSG00000030344
Gene Name A kinase anchor protein 3
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL00235
Quality Score
Status
Chromosome 6
Chromosomal Location 126830061-126851271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 126842694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 438 (F438L)
Ref Sequence ENSEMBL: ENSMUSP00000143794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095440] [ENSMUST00000202574] [ENSMUST00000202878]
AlphaFold O88987
Predicted Effect probably benign
Transcript: ENSMUST00000095440
AA Change: F438L

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: F438L

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202574
AA Change: F438L

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: F438L

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202878
AA Change: F438L

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: F438L

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
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 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 reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]
Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,073,583 (GRCm39) E454K possibly damaging Het
Agl T C 3: 116,565,132 (GRCm39) H1039R probably benign Het
Casp1 A T 9: 5,299,872 (GRCm39) probably benign Het
Cnih2 G T 19: 5,148,301 (GRCm39) probably benign Het
Dchs1 G A 7: 105,407,950 (GRCm39) R1961C probably damaging Het
Defb21 G A 2: 152,416,712 (GRCm39) V63I probably benign Het
Elovl6 T A 3: 129,422,025 (GRCm39) N105K probably benign Het
Fam83e A T 7: 45,376,493 (GRCm39) E402V probably benign Het
Fat4 T A 3: 39,036,398 (GRCm39) I3350N probably damaging Het
Gmpr2 C A 14: 55,913,171 (GRCm39) F149L probably damaging Het
Gucy1b2 C A 14: 62,643,694 (GRCm39) V636F probably damaging Het
Hapln1 A C 13: 89,756,261 (GRCm39) Y355S probably benign Het
Hoxb13 G T 11: 96,085,468 (GRCm39) C67F possibly damaging Het
Hspa12b T A 2: 130,976,040 (GRCm39) I14N probably damaging Het
Ighe C A 12: 113,235,135 (GRCm39) V342L unknown Het
Ighv1-49 A T 12: 115,019,076 (GRCm39) S21T possibly damaging Het
Klhl17 A G 4: 156,318,319 (GRCm39) I101T possibly damaging Het
Lrrd1 T G 5: 3,900,573 (GRCm39) L293V possibly damaging Het
Lyrm4 T A 13: 36,276,865 (GRCm39) K44M probably damaging Het
Med15 G T 16: 17,498,590 (GRCm39) P101T probably damaging Het
Mgat4c A T 10: 102,224,581 (GRCm39) H265L probably damaging Het
Mme T A 3: 63,247,465 (GRCm39) I250N possibly damaging Het
Mxra8 C A 4: 155,927,020 (GRCm39) T318N probably benign Het
Nlrp9b G A 7: 19,757,203 (GRCm39) V147I probably benign Het
Npepl1 G T 2: 173,962,341 (GRCm39) V336L probably damaging Het
Or1e23 G A 11: 73,407,236 (GRCm39) S263L possibly damaging Het
Pank2 T C 2: 131,116,089 (GRCm39) I169T possibly damaging Het
Pgap6 T C 17: 26,336,493 (GRCm39) S204P probably damaging Het
Pkhd1l1 A T 15: 44,419,415 (GRCm39) H2960L probably damaging Het
Pnpla8 A G 12: 44,329,852 (GRCm39) R135G probably benign Het
Prdm8 T G 5: 98,331,202 (GRCm39) V18G probably damaging Het
Rhox7b G T X: 36,978,539 (GRCm39) P231T probably damaging Het
Rnf121 A T 7: 101,714,322 (GRCm39) probably benign Het
Skap1 T C 11: 96,380,736 (GRCm39) F45S probably damaging Het
Slc4a5 T A 6: 83,262,881 (GRCm39) L791Q probably damaging Het
Ssh1 T C 5: 114,080,637 (GRCm39) D931G probably damaging Het
Txndc16 T C 14: 45,399,807 (GRCm39) Y382C probably damaging Het
Uhrf2 T C 19: 30,051,346 (GRCm39) F307L probably benign Het
Zfhx2 C A 14: 55,300,714 (GRCm39) A2346S probably benign Het
Other mutations in Akap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Akap3 APN 6 126,842,842 (GRCm39) missense possibly damaging 0.93
IGL01975:Akap3 APN 6 126,850,963 (GRCm39) missense probably damaging 1.00
IGL02114:Akap3 APN 6 126,842,959 (GRCm39) missense probably damaging 0.99
IGL02349:Akap3 APN 6 126,837,226 (GRCm39) missense probably benign 0.01
IGL03305:Akap3 APN 6 126,841,728 (GRCm39) missense probably benign
IGL03412:Akap3 APN 6 126,841,688 (GRCm39) missense probably benign 0.00
IGL03097:Akap3 UTSW 6 126,843,379 (GRCm39) missense probably damaging 1.00
P0012:Akap3 UTSW 6 126,841,564 (GRCm39) missense possibly damaging 0.87
R0358:Akap3 UTSW 6 126,843,775 (GRCm39) missense probably damaging 1.00
R1123:Akap3 UTSW 6 126,842,929 (GRCm39) missense probably benign 0.27
R1163:Akap3 UTSW 6 126,841,750 (GRCm39) missense probably damaging 1.00
R1458:Akap3 UTSW 6 126,842,517 (GRCm39) missense probably damaging 1.00
R1769:Akap3 UTSW 6 126,842,809 (GRCm39) missense possibly damaging 0.67
R1967:Akap3 UTSW 6 126,842,061 (GRCm39) missense probably benign 0.02
R4030:Akap3 UTSW 6 126,841,984 (GRCm39) missense probably damaging 1.00
R4618:Akap3 UTSW 6 126,843,406 (GRCm39) missense probably benign 0.31
R4677:Akap3 UTSW 6 126,842,226 (GRCm39) missense probably damaging 0.99
R4735:Akap3 UTSW 6 126,842,601 (GRCm39) missense probably damaging 1.00
R5660:Akap3 UTSW 6 126,842,254 (GRCm39) missense probably damaging 1.00
R5834:Akap3 UTSW 6 126,842,796 (GRCm39) missense probably benign 0.04
R5847:Akap3 UTSW 6 126,842,521 (GRCm39) missense probably damaging 1.00
R6053:Akap3 UTSW 6 126,843,496 (GRCm39) missense probably damaging 0.98
R7007:Akap3 UTSW 6 126,843,439 (GRCm39) missense probably damaging 0.99
R7070:Akap3 UTSW 6 126,850,987 (GRCm39) missense probably damaging 1.00
R7123:Akap3 UTSW 6 126,843,267 (GRCm39) missense probably benign 0.05
R7173:Akap3 UTSW 6 126,841,729 (GRCm39) missense probably benign
R7238:Akap3 UTSW 6 126,842,200 (GRCm39) missense probably benign 0.00
R7437:Akap3 UTSW 6 126,842,618 (GRCm39) missense probably damaging 1.00
R7731:Akap3 UTSW 6 126,842,031 (GRCm39) missense probably benign 0.04
R7737:Akap3 UTSW 6 126,851,065 (GRCm39) missense probably damaging 1.00
R8073:Akap3 UTSW 6 126,842,736 (GRCm39) missense probably damaging 1.00
R8504:Akap3 UTSW 6 126,841,493 (GRCm39) missense probably damaging 1.00
R8755:Akap3 UTSW 6 126,843,130 (GRCm39) missense possibly damaging 0.77
R9440:Akap3 UTSW 6 126,841,591 (GRCm39) missense probably benign 0.00
R9579:Akap3 UTSW 6 126,850,974 (GRCm39) missense probably damaging 1.00
R9594:Akap3 UTSW 6 126,842,377 (GRCm39) missense probably damaging 1.00
R9761:Akap3 UTSW 6 126,842,200 (GRCm39) missense probably benign 0.00
X0028:Akap3 UTSW 6 126,842,880 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09