Mutagenetix > Incidental Mutations

Incidental Mutation 'R6284:Akap1'

508127

Institutional Source

Beutler Lab

Gene Symbol

Akap1

Ensembl Gene

ENSMUSG00000018428

Gene Name

A kinase (PRKA) anchor protein 1

Synonyms

DAKAP1, AKAP84, S-AKAP84, AKAP121

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_001042541.1, NM_009648.2; MGI:104729

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88830792-88864586 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88844568 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 423 (T423A)

Ref Sequence

ENSEMBL: ENSMUSP00000122295 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018572] [ENSMUST00000107903] [ENSMUST00000107904] [ENSMUST00000143720]

AlphaFold

O08715

Predicted Effect

probably benign
Transcript: ENSMUST00000018572
AA Change: T423A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: T423A

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	449	462	N/A	INTRINSIC
KH	560	630	1.59e-10	SMART
low complexity region	639	651	N/A	INTRINSIC
TUDOR	710	769	5.32e-12	SMART
low complexity region	778	790	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107903
AA Change: T423A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: T423A

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	449	462	N/A	INTRINSIC
KH	560	630	1.59e-10	SMART
low complexity region	639	651	N/A	INTRINSIC
TUDOR	710	769	5.32e-12	SMART
low complexity region	778	790	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107904
AA Change: T456A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: T456A

Domain	Start	End	E-Value	Type
transmembrane domain	40	59	N/A	INTRINSIC
low complexity region	60	71	N/A	INTRINSIC
low complexity region	482	495	N/A	INTRINSIC
KH	593	663	1.59e-10	SMART
low complexity region	672	684	N/A	INTRINSIC
TUDOR	743	802	5.32e-12	SMART
low complexity region	811	823	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143720
AA Change: T423A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: T423A

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
Pfam:RII_binding_1	305	322	5.5e-5	PFAM
low complexity region	449	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153787

SMART Domains

Protein: ENSMUSP00000123018
Gene: ENSMUSG00000018428

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153961

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (64/64)

MGI Phenotype

Strain: 3620561
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation. [provided by MGI curators]

Allele List at MGI

All alleles(49) : Targeted(3) Gene trapped(46)

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	G	T	6: 72,347,454	G16C	probably damaging	Het
Abca7	G	A	10: 80,004,410	V801I	probably benign	Het
Adgrl2	A	T	3: 148,826,507	L1030Q	probably damaging	Het
Anpep	T	A	7: 79,825,802	D111V	probably damaging	Het
Atm	T	A	9: 53,445,376		probably null	Het
Atp5a1	T	A	18: 77,778,468	S106T	probably benign	Het
Atp5k	T	C	5: 108,434,059	I20V	probably benign	Het
Atp6v0d2	T	A	4: 19,922,605		probably null	Het
Bclaf1	T	G	10: 20,322,160		probably null	Het
Bod1l	A	G	5: 41,818,787	V1728A	probably benign	Het
Braf	A	G	6: 39,688,282	F51L	possibly damaging	Het
Camsap2	A	G	1: 136,304,437	I140T	possibly damaging	Het
Ccdc24	A	T	4: 117,869,653		probably null	Het
Cdh26	G	C	2: 178,449,884	G79R	probably damaging	Het
Cenpf	A	G	1: 189,652,742	L2447P	probably damaging	Het
Cfap74	T	C	4: 155,451,796	F863L	probably damaging	Het
Clstn2	C	T	9: 97,454,674	G917S	probably benign	Het
Col6a6	A	T	9: 105,727,227		probably null	Het
Cul5	G	A	9: 53,623,735	P596L	probably damaging	Het
Dst	A	T	1: 34,229,085	R2863W	probably damaging	Het
Dthd1	A	G	5: 62,814,041	E69G	possibly damaging	Het
Erich2	T	A	2: 70,539,684	I402N	probably damaging	Het
Fam160a1	G	A	3: 85,672,688	P737S	probably benign	Het
Fam162b	T	C	10: 51,585,502	K155R	probably damaging	Het
Glb1l2	A	T	9: 26,767,448	S466T	probably benign	Het
Gm21994	T	A	2: 150,255,278	Y77F	possibly damaging	Het
Gm5724	T	C	6: 141,725,393	D451G	probably damaging	Het
Ikbkap	A	T	4: 56,762,281	I1106K	probably damaging	Het
Kazn	G	A	4: 142,117,197	L402F	probably benign	Het
Kcnj13	A	T	1: 87,386,886	S205T	probably damaging	Het
Lama1	T	A	17: 67,810,096	V2462E	probably damaging	Het
Lce1b	A	C	3: 92,656,104	C41G	unknown	Het
Lyar	T	A	5: 38,225,995	W77R	probably damaging	Het
March11	G	A	15: 26,409,346	R377Q	probably benign	Het
Mis18bp1	A	G	12: 65,138,787	F869L	probably benign	Het
Myom1	T	A	17: 71,022,892	Y6*	probably null	Het
Myzap	T	C	9: 71,558,925	I150V	probably benign	Het
Nop14	C	T	5: 34,641,491		probably null	Het
Oprl1	T	A	2: 181,717,991		probably benign	Het
Pacsin1	T	C	17: 27,708,504	L432P	probably damaging	Het
Peak1	A	G	9: 56,260,296	L116P	probably benign	Het
Plcb2	C	T	2: 118,717,301	V482M	probably benign	Het
Pnliprp1	T	A	19: 58,734,984	I269N	probably damaging	Het
Pnpla7	C	A	2: 25,016,618	D664E	possibly damaging	Het
Ppa2	G	A	3: 133,370,417	R269H	probably benign	Het
Rps6kb2	G	T	19: 4,161,187	T113K	probably benign	Het
Rrp7a	A	T	15: 83,121,860	I63N	probably damaging	Het
Slc29a1	A	G	17: 45,589,921		probably null	Het
Stxbp5	A	C	10: 9,767,179	S1059A	probably benign	Het
Stxbp5	C	A	10: 9,767,187	G1056V	probably damaging	Het
Taldo1	T	A	7: 141,398,583	S149T	possibly damaging	Het
Tlr1	T	C	5: 64,927,099	D45G	possibly damaging	Het
Tnrc6a	T	C	7: 123,171,335	S783P	probably damaging	Het
Trap1	A	G	16: 4,060,809	Y220H	probably benign	Het
Trpc6	A	G	9: 8,643,600	D462G	possibly damaging	Het
Ttc21a	A	G	9: 119,943,962	E235G	probably damaging	Het
Tubb4a	A	G	17: 57,080,833	Y398H	probably damaging	Het
Ube2z	A	G	11: 96,050,407	F303S	probably damaging	Het
Vmn1r211	A	G	13: 22,852,084	S138P	probably damaging	Het
Zfp93	T	A	7: 24,275,629	C346*	probably null	Het
Zfp938	A	T	10: 82,227,566	S52R	possibly damaging	Het
Zp1	A	T	19: 10,916,503	L446Q	probably damaging	Het

Other mutations in Akap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Akap1	APN	11	88844254	splice site	probably null
IGL01333:Akap1	APN	11	88845605	missense	probably damaging	0.99
IGL01701:Akap1	APN	11	88845132	missense	probably benign	0.03
IGL01920:Akap1	APN	11	88839633	missense	probably damaging	1.00
IGL02980:Akap1	UTSW	11	88845164	missense	probably benign
PIT4305001:Akap1	UTSW	11	88844378	missense	probably benign
R0049:Akap1	UTSW	11	88839624	critical splice donor site	probably null
R0049:Akap1	UTSW	11	88839624	critical splice donor site	probably null
R0278:Akap1	UTSW	11	88845194	missense	probably benign	0.19
R1437:Akap1	UTSW	11	88844751	nonsense	probably null
R1438:Akap1	UTSW	11	88844751	nonsense	probably null
R1439:Akap1	UTSW	11	88844751	nonsense	probably null
R1569:Akap1	UTSW	11	88833180	missense	probably benign	0.02
R1611:Akap1	UTSW	11	88845278	missense	probably benign	0.27
R1757:Akap1	UTSW	11	88845752	missense	probably damaging	1.00
R2328:Akap1	UTSW	11	88845044	missense	possibly damaging	0.46
R2897:Akap1	UTSW	11	88844779	nonsense	probably null
R3730:Akap1	UTSW	11	88845182	missense	possibly damaging	0.82
R4868:Akap1	UTSW	11	88844553	missense	possibly damaging	0.83
R5620:Akap1	UTSW	11	88845517	missense	possibly damaging	0.82
R5645:Akap1	UTSW	11	88845627	missense	probably benign	0.01
R5886:Akap1	UTSW	11	88834660	critical splice donor site	probably null
R5932:Akap1	UTSW	11	88831759	missense	probably damaging	1.00
R6555:Akap1	UTSW	11	88844882	missense	probably damaging	1.00
R7234:Akap1	UTSW	11	88838982	missense	probably damaging	1.00
R7436:Akap1	UTSW	11	88845528	missense	probably damaging	1.00
R7759:Akap1	UTSW	11	88845833	missense	probably damaging	1.00
R8356:Akap1	UTSW	11	88834731	critical splice acceptor site	probably null
R8456:Akap1	UTSW	11	88834731	critical splice acceptor site	probably null
R8796:Akap1	UTSW	11	88839672	missense	probably damaging	1.00
R8948:Akap1	UTSW	11	88844273	missense	probably damaging	1.00
R9006:Akap1	UTSW	11	88833170	missense	possibly damaging	0.83
R9116:Akap1	UTSW	11	88832339	missense	probably damaging	1.00
R9174:Akap1	UTSW	11	88835165	missense	probably damaging	1.00
R9294:Akap1	UTSW	11	88837140	missense	probably damaging	1.00
Z1176:Akap1	UTSW	11	88837167	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TGAAGGGCTGAGTACTGACTG -3'
(R):5'- AGACACCTCAGATCCTGCTTC -3'

Sequencing Primer
(F):5'- GTCATAGCTTTGTCTCCGGAGC -3'
(R):5'- TCCTGCTTCCACCAGAACAGG -3'

Posted On

2018-03-15