Mutagenetix > Incidental Mutation

Incidental Mutation 'R3870:Akap8'

276543

Institutional Source

Beutler Lab

Gene Symbol

Akap8

Ensembl Gene

ENSMUSG00000024045

Gene Name

A kinase (PRKA) anchor protein 8

Synonyms

1200016A02Rik, AKAP95

MMRRC Submission

040789-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3870 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32303676-32321153 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 32317839 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000051389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002699] [ENSMUST00000050214]

AlphaFold

Q9DBR0

Predicted Effect

probably benign
Transcript: ENSMUST00000002699

SMART Domains

Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045

Domain	Start	End	E-Value	Type
SCOP:d1a0tp_	12	108	3e-19	SMART
low complexity region	183	198	N/A	INTRINSIC
low complexity region	257	270	N/A	INTRINSIC
low complexity region	354	384	N/A	INTRINSIC
ZnF_C2H2	387	411	9.46e0	SMART
Blast:ZnF_C2H2	476	501	9e-9	BLAST
low complexity region	551	582	N/A	INTRINSIC
low complexity region	642	651	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000050214

SMART Domains

Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625

Domain	Start	End	E-Value	Type
low complexity region	37	62	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
low complexity region	112	120	N/A	INTRINSIC
low complexity region	236	257	N/A	INTRINSIC
low complexity region	296	306	N/A	INTRINSIC
low complexity region	307	324	N/A	INTRINSIC
low complexity region	330	350	N/A	INTRINSIC
coiled coil region	356	383	N/A	INTRINSIC
ZnF_C2H2	389	413	1.05e1	SMART
SCOP:d1jvr__	538	613	7e-5	SMART
low complexity region	628	640	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

90% (61/68)

MGI Phenotype

FUNCTION: This gene encodes a member of the A-kinase anchoring protein (AKAP) family. These proteins are characterized by their ability to bind to the R subunit of protein kinase A (PKA) and anchor the protein at different subcellular locations. This protein has been shown to regulate apoptosis and to be involved in palatogenesis. Knockdown of this gene has been associated with altered histone modifications and reduced expression of developmental genes in mouse embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a gene trap insertion are viable and overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 44,231,404		probably null	Het
2410089E03Rik	A	T	15: 8,218,464	K1499M	probably damaging	Het
Adam22	C	A	5: 8,132,418	C514F	probably damaging	Het
Armcx2	A	T	X: 134,806,299	V195E	probably benign	Het
Atg7	T	C	6: 114,697,047	S301P	possibly damaging	Het
Cc2d2a	C	A	5: 43,718,691	Y1003*	probably null	Het
Ccdc93	A	G	1: 121,463,114	S272G	probably benign	Het
Ces1d	C	G	8: 93,175,086	L418F	probably benign	Het
Cntnap5a	A	G	1: 116,060,249	E170G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Ehd4	T	A	2: 120,136,953	D120V	probably damaging	Het
Eif4g3	T	A	4: 138,096,900	V71E	probably damaging	Het
Exoc5	A	G	14: 49,019,396		probably benign	Het
Glud1	T	A	14: 34,325,580		probably benign	Het
Gm10985	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	3: 53,845,205		probably null	Het
Gm11555	G	T	11: 99,649,990	C64*	probably null	Het
Gm5468	A	G	15: 25,414,475		probably benign	Het
Gpatch2	T	A	1: 187,322,294	L74Q	probably damaging	Het
Hnrnpa0	G	A	13: 58,127,899	R139C	probably damaging	Het
Hrh1	A	G	6: 114,480,919	Y387C	probably damaging	Het
Ldb3	A	T	14: 34,567,483	D216E	probably damaging	Het
Lingo1	A	T	9: 56,619,725	S533T	probably benign	Het
Lmtk2	T	G	5: 144,166,427		probably benign	Het
Map1s	A	G	8: 70,917,101	E939G	possibly damaging	Het
Mast1	G	A	8: 84,918,731	T695I	probably damaging	Het
Mettl21e	G	A	1: 44,206,364	R241W	probably benign	Het
Mfsd4a	G	A	1: 132,046,353	T261I	probably damaging	Het
Mmel1	T	C	4: 154,883,638	S144P	probably benign	Het
Myo16	A	T	8: 10,442,239	H727L	probably benign	Het
Ncoa6	T	C	2: 155,415,557		probably null	Het
Nipa2	T	C	7: 55,932,942	R352G	probably damaging	Het
Oaf	C	T	9: 43,222,758	R222Q	probably benign	Het
Olfr701	T	A	7: 106,818,840	Y252*	probably null	Het
Pard3	T	C	8: 127,409,686	S847P	probably damaging	Het
Pgbd1	C	T	13: 21,434,370	R39H	possibly damaging	Het
Plcb1	A	C	2: 135,325,671	I462L	probably damaging	Het
Prex2	T	C	1: 11,160,192	V814A	possibly damaging	Het
Rasal3	G	A	17: 32,393,548	R780W	possibly damaging	Het
Rubcnl	C	T	14: 75,040,916	P380L	probably benign	Het
Ryk	A	G	9: 102,891,228	E359G	probably damaging	Het
Sall2	C	A	14: 52,313,994	L579F	probably damaging	Het
Satb2	A	G	1: 56,891,220	S215P	probably damaging	Het
Scg3	T	C	9: 75,675,499		probably benign	Het
Slc35f5	A	G	1: 125,562,361	T65A	probably benign	Het
Snx33	T	C	9: 56,926,740	N15S	probably benign	Het
Stat2	T	A	10: 128,277,893	S180R	probably benign	Het
Stxbp2	A	G	8: 3,634,079	T129A	probably damaging	Het
Tas1r3	A	T	4: 155,861,353	C529S	probably damaging	Het
Tlr12	T	A	4: 128,616,568	M630L	probably benign	Het
Tnfrsf10b	T	G	14: 69,773,456	D103E	probably benign	Het
Togaram1	A	C	12: 65,002,645	E1285D	probably benign	Het
Tppp	A	G	13: 74,030,772	T111A	probably benign	Het
Trim12c	T	C	7: 104,348,337	Q4R	probably benign	Het
Ttbk2	T	G	2: 120,740,019	S1149R	probably damaging	Het
Uncx	T	C	5: 139,547,365	L395P	probably damaging	Het
Usp14	A	G	18: 10,002,370	S314P	possibly damaging	Het
Usp32	A	T	11: 85,007,055	Y1153*	probably null	Het
Vmn2r6	T	C	3: 64,556,621	E264G	probably damaging	Het
Vmn2r77	T	C	7: 86,811,842	F792S	probably damaging	Het
Vps13c	A	G	9: 67,884,726	I425V	probably benign	Het
Vstm4	C	T	14: 32,863,755	A93V	probably benign	Het
Xrcc6	T	A	15: 82,025,684	S97T	probably benign	Het
Zscan20	A	G	4: 128,586,425	C758R	probably damaging	Het

Other mutations in Akap8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Akap8	APN	17	32317280	missense	probably damaging	1.00
IGL01450:Akap8	APN	17	32315687	missense	probably damaging	1.00
IGL02002:Akap8	APN	17	32309496	missense	probably damaging	1.00
IGL02223:Akap8	APN	17	32316647	missense	probably damaging	1.00
IGL02315:Akap8	APN	17	32305501	missense	probably benign	0.01
IGL03404:Akap8	APN	17	32312276	splice site	probably benign
BB006:Akap8	UTSW	17	32309445	missense	probably damaging	1.00
BB016:Akap8	UTSW	17	32309445	missense	probably damaging	1.00
R0310:Akap8	UTSW	17	32316260	missense	possibly damaging	0.81
R0526:Akap8	UTSW	17	32317292	missense	probably benign	0.28
R1795:Akap8	UTSW	17	32315477	missense	probably damaging	1.00
R1992:Akap8	UTSW	17	32316612	missense	probably damaging	0.99
R2571:Akap8	UTSW	17	32315455	missense	probably damaging	1.00
R2918:Akap8	UTSW	17	32305648	missense	probably benign	0.01
R3423:Akap8	UTSW	17	32316455	missense	possibly damaging	0.61
R4077:Akap8	UTSW	17	32312298	missense	probably damaging	1.00
R4078:Akap8	UTSW	17	32312298	missense	probably damaging	1.00
R4379:Akap8	UTSW	17	32306560	missense	probably damaging	0.99
R4756:Akap8	UTSW	17	32316210	missense	probably damaging	0.98
R4819:Akap8	UTSW	17	32312305	missense	probably damaging	1.00
R5091:Akap8	UTSW	17	32316234	missense	probably benign	0.05
R5761:Akap8	UTSW	17	32317185	missense	possibly damaging	0.56
R6896:Akap8	UTSW	17	32317331	missense	probably benign	0.00
R7138:Akap8	UTSW	17	32316541	missense	possibly damaging	0.86
R7350:Akap8	UTSW	17	32316575	missense	possibly damaging	0.92
R7929:Akap8	UTSW	17	32309445	missense	probably damaging	1.00
R8693:Akap8	UTSW	17	32310651	missense	probably damaging	1.00
R8810:Akap8	UTSW	17	32306530	missense	probably damaging	1.00
R9521:Akap8	UTSW	17	32311062	missense	possibly damaging	0.89
X0020:Akap8	UTSW	17	32315750	missense	probably benign	0.08
Z1176:Akap8	UTSW	17	32306549	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTCAAACTCCCCTTCAGG -3'
(R):5'- TTTCATGGGAGAAGTCAGGCC -3'

Sequencing Primer
(F):5'- AGGTCAGCCTAGCTCTGATAC -3'
(R):5'- CCTGCCTGGGAGAGAAATATTATTG -3'

Posted On

2015-04-06