Mutagenetix > Incidental Mutation

Incidental Mutation 'R7234:Akap1'

562710

Institutional Source

Beutler Lab

Gene Symbol

Akap1

Ensembl Gene

ENSMUSG00000018428

Gene Name

A kinase anchor protein 1

Synonyms

DAKAP1, S-AKAP84, AKAP84, AKAP121

MMRRC Submission

045304-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7234 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88721618-88755412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88729808 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 638 (Y638C)

Ref Sequence

ENSEMBL: ENSMUSP00000103536 (fasta)

Gene Model

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

AlphaFold

O08715

Predicted Effect

probably damaging
Transcript: ENSMUST00000018572
AA Change: Y638C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: Y638C

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 damaging
Transcript: ENSMUST00000107903
AA Change: Y638C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: Y638C

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 damaging
Transcript: ENSMUST00000107904
AA Change: Y671C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: Y671C

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

probably benign
Transcript: ENSMUST00000143720

SMART Domains

Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

MGI Phenotype

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy3	T	A	19: 4,037,758 (GRCm39)	Y88*	probably null	Het
AI606181	T	A	19: 41,582,076 (GRCm39)	I82N	unknown	Het
Angpt1	T	C	15: 42,323,121 (GRCm39)	N383D	probably benign	Het
Ank	T	C	15: 27,571,742 (GRCm39)		probably null	Het
Aoc1	C	T	6: 48,882,750 (GRCm39)	Q209*	probably null	Het
Apol7c	A	T	15: 77,409,875 (GRCm39)	L357*	probably null	Het
Atxn2l	A	G	7: 126,092,373 (GRCm39)	L958P	probably damaging	Het
Cab39l	T	A	14: 59,734,395 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,295,024 (GRCm39)		probably null	Het
Cdkn3	T	C	14: 47,008,918 (GRCm39)	S204P	unknown	Het
Cds2	T	C	2: 132,146,400 (GRCm39)		probably null	Het
Cideb	C	T	14: 55,992,017 (GRCm39)	R179H	probably benign	Het
Cped1	A	G	6: 22,254,625 (GRCm39)	Q1006R	probably damaging	Het
Csmd2	A	G	4: 128,350,572 (GRCm39)	Y1547C		Het
Dicer1	A	G	12: 104,675,108 (GRCm39)	L718S	probably damaging	Het
Dnaaf9	C	A	2: 130,648,708 (GRCm39)	R258L	unknown	Het
Dyrk2	T	C	10: 118,696,136 (GRCm39)	H374R	possibly damaging	Het
Edem2	A	T	2: 155,552,886 (GRCm39)	Y283N	probably benign	Het
Ero1b	A	T	13: 12,615,203 (GRCm39)	S345C	possibly damaging	Het
Fam83g	T	C	11: 61,593,342 (GRCm39)	V292A	possibly damaging	Het
Farp2	A	G	1: 93,507,841 (GRCm39)	D513G	possibly damaging	Het
Fbxl5	A	G	5: 43,915,562 (GRCm39)	W617R	probably benign	Het
Fzd7	G	A	1: 59,522,443 (GRCm39)	V109M	probably damaging	Het
Gbp5	A	T	3: 142,226,898 (GRCm39)	H583L	probably benign	Het
Gm10306	T	A	4: 94,445,032 (GRCm39)	L84M	unknown	Het
Gsap	A	G	5: 21,391,433 (GRCm39)	T25A	probably benign	Het
Hectd4	G	T	5: 121,467,136 (GRCm39)	R2466L	possibly damaging	Het
Ide	C	A	19: 37,268,184 (GRCm39)	C557F		Het
Ift70a2	A	T	2: 75,806,540 (GRCm39)	Y657*	probably null	Het
Igdcc4	T	A	9: 65,042,750 (GRCm39)	C1234*	probably null	Het
Ints4	A	G	7: 97,179,507 (GRCm39)	I701V	probably benign	Het
Kalrn	T	A	16: 33,996,792 (GRCm39)	I1467F	possibly damaging	Het
Kcnip3	C	A	2: 127,363,256 (GRCm39)	R2M	unknown	Het
Kcnrg	A	T	14: 61,845,531 (GRCm39)	E190D	unknown	Het
Klk13	T	C	7: 43,370,841 (GRCm39)	L131P	probably damaging	Het
Lhcgr	A	T	17: 89,099,359 (GRCm39)	L14Q	possibly damaging	Het
Mdm4	A	T	1: 132,938,853 (GRCm39)	D80E	probably damaging	Het
Mib2	G	T	4: 155,742,350 (GRCm39)	Q311K	probably damaging	Het
Msantd5f9	G	T	4: 73,835,808 (GRCm39)	L219M	probably benign	Het
Mycbp2	A	T	14: 103,452,773 (GRCm39)	S1703T	probably damaging	Het
Naip6	A	T	13: 100,452,011 (GRCm39)	C200*	probably null	Het
Ncapd3	T	A	9: 26,961,655 (GRCm39)	I361N	probably damaging	Het
Nom1	A	G	5: 29,640,451 (GRCm39)	E259G	probably benign	Het
Or10j5	T	A	1: 172,784,673 (GRCm39)	F104I	probably damaging	Het
Or51v14	A	G	7: 103,261,089 (GRCm39)	L157P	probably damaging	Het
Plxna2	A	T	1: 194,488,698 (GRCm39)	H1658L	probably damaging	Het
Ranbp6	T	C	19: 29,789,462 (GRCm39)	T297A	possibly damaging	Het
Rap1gap	T	A	4: 137,455,851 (GRCm39)	C722*	probably null	Het
Ribc2	A	G	15: 85,019,733 (GRCm39)	K172E	probably benign	Het
Scamp5	C	A	9: 57,354,423 (GRCm39)	W77L	probably damaging	Het
Scin	T	A	12: 40,130,957 (GRCm39)	K319*	probably null	Het
Sec16a	G	T	2: 26,329,780 (GRCm39)	T745K	probably damaging	Het
Slc15a2	G	A	16: 36,578,173 (GRCm39)	A403V	probably benign	Het
Slco6c1	A	G	1: 97,053,466 (GRCm39)	V145A	probably benign	Het
Sncaip	C	T	18: 53,048,416 (GRCm39)	H951Y	probably benign	Het
Spem1	A	G	11: 69,712,630 (GRCm39)		probably null	Het
Spen	C	T	4: 141,206,446 (GRCm39)	R727Q	unknown	Het
Thra	T	C	11: 98,654,544 (GRCm39)	S305P	probably damaging	Het
Tlr1	A	G	5: 65,084,067 (GRCm39)	V170A	probably damaging	Het
Tmem260	T	A	14: 48,742,786 (GRCm39)	C388*	probably null	Het
Tmem60	T	A	5: 21,091,619 (GRCm39)	V128D	possibly damaging	Het
Tpo	G	A	12: 30,142,685 (GRCm39)	P680S	probably benign	Het
Umodl1	A	G	17: 31,205,595 (GRCm39)	E730G	possibly damaging	Het
Vmn2r69	T	C	7: 85,056,315 (GRCm39)	T608A	probably benign	Het
Xrra1	G	A	7: 99,563,456 (GRCm39)	S481N	possibly damaging	Het
Zc3h4	G	A	7: 16,162,961 (GRCm39)	V446I	unknown	Het

Other mutations in Akap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Akap1	APN	11	88,735,080 (GRCm39)	splice site	probably null
IGL01333:Akap1	APN	11	88,736,431 (GRCm39)	missense	probably damaging	0.99
IGL01701:Akap1	APN	11	88,735,958 (GRCm39)	missense	probably benign	0.03
IGL01920:Akap1	APN	11	88,730,459 (GRCm39)	missense	probably damaging	1.00
IGL02980:Akap1	UTSW	11	88,735,990 (GRCm39)	missense	probably benign
PIT4305001:Akap1	UTSW	11	88,735,204 (GRCm39)	missense	probably benign
R0049:Akap1	UTSW	11	88,730,450 (GRCm39)	critical splice donor site	probably null
R0049:Akap1	UTSW	11	88,730,450 (GRCm39)	critical splice donor site	probably null
R0278:Akap1	UTSW	11	88,736,020 (GRCm39)	missense	probably benign	0.19
R1437:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1438:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1439:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1569:Akap1	UTSW	11	88,724,006 (GRCm39)	missense	probably benign	0.02
R1611:Akap1	UTSW	11	88,736,104 (GRCm39)	missense	probably benign	0.27
R1757:Akap1	UTSW	11	88,736,578 (GRCm39)	missense	probably damaging	1.00
R2328:Akap1	UTSW	11	88,735,870 (GRCm39)	missense	possibly damaging	0.46
R2897:Akap1	UTSW	11	88,735,605 (GRCm39)	nonsense	probably null
R3730:Akap1	UTSW	11	88,736,008 (GRCm39)	missense	possibly damaging	0.82
R4868:Akap1	UTSW	11	88,735,379 (GRCm39)	missense	possibly damaging	0.83
R5620:Akap1	UTSW	11	88,736,343 (GRCm39)	missense	possibly damaging	0.82
R5645:Akap1	UTSW	11	88,736,453 (GRCm39)	missense	probably benign	0.01
R5886:Akap1	UTSW	11	88,725,486 (GRCm39)	critical splice donor site	probably null
R5932:Akap1	UTSW	11	88,722,585 (GRCm39)	missense	probably damaging	1.00
R6284:Akap1	UTSW	11	88,735,394 (GRCm39)	missense	possibly damaging	0.66
R6555:Akap1	UTSW	11	88,735,708 (GRCm39)	missense	probably damaging	1.00
R7436:Akap1	UTSW	11	88,736,354 (GRCm39)	missense	probably damaging	1.00
R7759:Akap1	UTSW	11	88,736,659 (GRCm39)	missense	probably damaging	1.00
R8356:Akap1	UTSW	11	88,725,557 (GRCm39)	critical splice acceptor site	probably null
R8456:Akap1	UTSW	11	88,725,557 (GRCm39)	critical splice acceptor site	probably null
R8796:Akap1	UTSW	11	88,730,498 (GRCm39)	missense	probably damaging	1.00
R8948:Akap1	UTSW	11	88,735,099 (GRCm39)	missense	probably damaging	1.00
R9006:Akap1	UTSW	11	88,723,996 (GRCm39)	missense	possibly damaging	0.83
R9116:Akap1	UTSW	11	88,723,165 (GRCm39)	missense	probably damaging	1.00
R9174:Akap1	UTSW	11	88,725,991 (GRCm39)	missense	probably damaging	1.00
R9294:Akap1	UTSW	11	88,727,966 (GRCm39)	missense	probably damaging	1.00
Z1176:Akap1	UTSW	11	88,727,993 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- AAAGCATGACCCTCCCAGTG -3'
(R):5'- CATCTTAGAGACCCTTGCACGG -3'

Sequencing Primer
(F):5'- TTCAGGGAACACGCCAGC -3'
(R):5'- CTCTCAGCACCATGTAGA -3'

Posted On

2019-06-26