Incidental Mutation 'IGL01975:Akap3'
ID 182653
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 # IGL01975
Quality Score
Status
Chromosome 6
Chromosomal Location 126830061-126851271 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126850963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 827 (S827I)
Ref Sequence ENSEMBL: ENSMUSP00000143794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078521] [ENSMUST00000095440] [ENSMUST00000171945] [ENSMUST00000202574] [ENSMUST00000202878]
AlphaFold O88987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000032495
Predicted Effect probably benign
Transcript: ENSMUST00000078521
SMART Domains Protein: ENSMUSP00000077606
Gene: ENSMUSG00000030345

DomainStartEndE-ValueType
S_TKc 219 515 2.9e-84 SMART
low complexity region 555 573 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095440
AA Change: S827I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: S827I

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably benign
Transcript: ENSMUST00000171945
SMART Domains Protein: ENSMUSP00000128180
Gene: ENSMUSG00000030345

DomainStartEndE-ValueType
Pfam:Pkinase 1 59 2.8e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000202574
AA Change: S827I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: S827I

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202878
AA Change: S827I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: S827I

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 C T 5: 8,217,396 (GRCm39) C133Y probably damaging Het
Arhgap20 C T 9: 51,761,097 (GRCm39) Q947* probably null Het
Csf2rb2 A G 15: 78,173,086 (GRCm39) I258T probably benign Het
Egln2 T C 7: 26,859,745 (GRCm39) I323V possibly damaging Het
Erlin1 C A 19: 44,025,370 (GRCm39) G348V probably damaging Het
Fbxo38 C T 18: 62,648,484 (GRCm39) A685T probably damaging Het
Gm10272 G A 10: 77,542,608 (GRCm39) C50Y probably damaging Het
Gm11559 G T 11: 99,755,682 (GRCm39) Q110H unknown Het
Gpr75 T C 11: 30,841,835 (GRCm39) S247P probably benign Het
Grid1 A T 14: 35,045,383 (GRCm39) M409L probably benign Het
Herc3 A C 6: 58,893,561 (GRCm39) D941A possibly damaging Het
Ilf3 T A 9: 21,303,675 (GRCm39) S166T probably benign Het
Kcnu1 A C 8: 26,424,525 (GRCm39) E273D probably benign Het
Kdm8 A G 7: 125,051,529 (GRCm39) S41G probably benign Het
Ldlr G A 9: 21,644,993 (GRCm39) V174I probably benign Het
Lpar5 T C 6: 125,058,750 (GRCm39) L157P probably damaging Het
Mcrs1 A G 15: 99,141,559 (GRCm39) probably null Het
Ndst3 T A 3: 123,395,163 (GRCm39) Y489F possibly damaging Het
Or6c69c A G 10: 129,911,139 (GRCm39) I287V probably damaging Het
Palmd A T 3: 116,717,283 (GRCm39) S405T probably benign Het
Ptger1 T C 8: 84,396,149 (GRCm39) probably benign Het
Rbp3 A T 14: 33,680,602 (GRCm39) K1068M probably damaging Het
Rimbp2 T C 5: 128,874,712 (GRCm39) D293G probably benign Het
Rnf20 T A 4: 49,654,473 (GRCm39) D843E probably benign Het
Rxfp1 A G 3: 79,567,385 (GRCm39) S322P possibly damaging Het
Slc22a8 T A 19: 8,582,775 (GRCm39) I152N probably damaging Het
Slc6a21 T A 7: 44,937,275 (GRCm39) D268E probably benign Het
Sstr1 A G 12: 58,260,412 (GRCm39) N345S probably benign Het
Stx17 T C 4: 48,180,670 (GRCm39) S172P probably damaging Het
Syne1 A G 10: 5,018,908 (GRCm39) probably benign Het
Tpte A G 8: 22,839,353 (GRCm39) T467A probably damaging Het
Trappc12 A G 12: 28,742,491 (GRCm39) probably null Het
Trav13-2 A T 14: 53,872,823 (GRCm39) T100S possibly damaging Het
Trip12 A G 1: 84,792,534 (GRCm39) probably benign Het
Wdr36 A G 18: 32,985,541 (GRCm39) H486R probably damaging Het
Zswim5 T C 4: 116,822,889 (GRCm39) I453T probably benign Het
Other mutations in Akap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Akap3 APN 6 126,842,694 (GRCm39) missense probably benign 0.38
IGL01070:Akap3 APN 6 126,842,842 (GRCm39) missense possibly damaging 0.93
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 2014-05-07