Incidental Mutation 'IGL01070:Akap3'
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ID51254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Akap3
Ensembl Gene ENSMUSG00000030344
Gene NameA kinase (PRKA) anchor protein 3
SynonymsAkap110; Sob1; Fsp95
Accession Numbers

NCBI RefSeq: NM_009650.2; MGI:1341149

Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01070
Quality Score
Status
Chromosome6
Chromosomal Location126853098-126874308 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 126865879 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 487 (E487V)
Ref Sequence ENSEMBL: ENSMUSP00000143794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095440] [ENSMUST00000202574] [ENSMUST00000202878]
Predicted Effect possibly damaging
Transcript: ENSMUST00000095440
AA Change: E487V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: E487V

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000202574
AA Change: E487V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: E487V

DomainStartEndE-ValueType
AKAP_110 5 864 N/A SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000202878
AA Change: E487V

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: E487V

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adamts5 T C 16: 85,863,133 H757R probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Bicd2 T C 13: 49,378,316 S271P probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cma1 A G 14: 55,942,697 S71P probably benign Het
Cspp1 T C 1: 10,088,145 Y494H probably damaging Het
Cyp39a1 A G 17: 43,683,022 K191R probably benign Het
Efr3a G A 15: 65,853,078 V507I probably benign Het
Fam178b C T 1: 36,564,403 R489Q possibly damaging Het
Kcnj4 A G 15: 79,484,579 L400P probably benign Het
Kif27 A G 13: 58,344,093 Y411H probably damaging Het
Mstn A T 1: 53,061,997 I78L possibly damaging Het
Nrap T C 19: 56,329,084 D1377G probably damaging Het
Pramel5 T G 4: 144,271,272 Y467S probably damaging Het
Prkg1 G A 19: 30,569,343 probably benign Het
Rbfox1 A C 16: 7,306,443 S219R possibly damaging Het
Rfng T C 11: 120,783,952 N71D probably damaging Het
Rp1 T C 1: 4,345,238 I1884V probably damaging Het
Rptn T A 3: 93,398,176 Y939N possibly damaging Het
Sart1 A G 19: 5,383,951 V322A probably benign Het
Shank3 T C 15: 89,549,416 S1455P probably damaging Het
Smc5 T A 19: 23,231,601 R703W possibly damaging Het
Sptan1 G A 2: 30,014,173 probably null Het
Tecta T C 9: 42,395,003 D43G probably damaging Het
Tmem67 A T 4: 12,054,750 M685K probably benign Het
Trac A G 14: 54,220,766 T82A probably benign Het
Trank1 A G 9: 111,366,793 N1295S probably damaging Het
Ttc36 T C 9: 44,801,590 probably null Het
Utp18 A T 11: 93,869,848 S384T possibly damaging Het
Vmn1r64 C A 7: 5,883,942 A201S probably benign Het
Vmn2r26 A T 6: 124,061,607 I714F probably benign Het
Vps54 T A 11: 21,312,268 V626D probably damaging Het
Wapl T C 14: 34,745,622 probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Akap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Akap3 APN 6 126865731 missense probably benign 0.38
IGL01975:Akap3 APN 6 126874000 missense probably damaging 1.00
IGL02114:Akap3 APN 6 126865996 missense probably damaging 0.99
IGL02349:Akap3 APN 6 126860263 missense probably benign 0.01
IGL03305:Akap3 APN 6 126864765 missense probably benign
IGL03412:Akap3 APN 6 126864725 missense probably benign 0.00
IGL03097:Akap3 UTSW 6 126866416 missense probably damaging 1.00
P0012:Akap3 UTSW 6 126864601 missense possibly damaging 0.87
R0358:Akap3 UTSW 6 126866812 missense probably damaging 1.00
R1123:Akap3 UTSW 6 126865966 missense probably benign 0.27
R1163:Akap3 UTSW 6 126864787 missense probably damaging 1.00
R1458:Akap3 UTSW 6 126865554 missense probably damaging 1.00
R1769:Akap3 UTSW 6 126865846 missense possibly damaging 0.67
R1967:Akap3 UTSW 6 126865098 missense probably benign 0.02
R4030:Akap3 UTSW 6 126865021 missense probably damaging 1.00
R4618:Akap3 UTSW 6 126866443 missense probably benign 0.31
R4677:Akap3 UTSW 6 126865263 missense probably damaging 0.99
R4735:Akap3 UTSW 6 126865638 missense probably damaging 1.00
R5660:Akap3 UTSW 6 126865291 missense probably damaging 1.00
R5834:Akap3 UTSW 6 126865833 missense probably benign 0.04
R5847:Akap3 UTSW 6 126865558 missense probably damaging 1.00
R6053:Akap3 UTSW 6 126866533 missense probably damaging 0.98
R7007:Akap3 UTSW 6 126866476 missense probably damaging 0.99
R7070:Akap3 UTSW 6 126874024 missense probably damaging 1.00
R7123:Akap3 UTSW 6 126866304 missense probably benign 0.05
R7173:Akap3 UTSW 6 126864766 missense probably benign
R7238:Akap3 UTSW 6 126865237 missense probably benign 0.00
R7437:Akap3 UTSW 6 126865655 missense probably damaging 1.00
R7731:Akap3 UTSW 6 126865068 missense probably benign 0.04
R7737:Akap3 UTSW 6 126874102 missense probably damaging 1.00
R8073:Akap3 UTSW 6 126865773 missense probably damaging 1.00
X0028:Akap3 UTSW 6 126865917 missense probably damaging 1.00
Posted On2013-06-21