Mutagenetix > Incidental Mutation

Incidental Mutation 'R0526:Akap8'

48956

Institutional Source

Beutler Lab

Gene Symbol

Akap8

Ensembl Gene

ENSMUSG00000024045

Gene Name

A kinase anchor protein 8

Synonyms

AKAP95, 1200016A02Rik

MMRRC Submission

038719-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0526 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32522646-32540212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32536266 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 49 (T49I)

Ref Sequence

ENSEMBL: ENSMUSP00000002699 (fasta)

Gene Model

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

AlphaFold

Q9DBR0

Predicted Effect

probably benign
Transcript: ENSMUST00000002699
AA Change: T49I

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: T49I

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: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,182,535 (GRCm39)	N230I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,060,609 (GRCm39)	Q687K	probably damaging	Het
Actrt2	A	G	4: 154,751,869 (GRCm39)	L89P	probably damaging	Het
Adamts1	A	C	16: 85,599,260 (GRCm39)	S113R	probably benign	Het
Agxt2	G	T	15: 10,373,948 (GRCm39)	C118F	probably damaging	Het
Alk	A	T	17: 72,176,748 (GRCm39)	W1519R	probably damaging	Het
Atf7ip	T	A	6: 136,536,803 (GRCm39)	F12Y	probably damaging	Het
Atp13a5	A	G	16: 29,167,558 (GRCm39)	C131R	probably damaging	Het
Atp8b4	A	G	2: 126,269,283 (GRCm39)	L168P	probably damaging	Het
Blm	G	T	7: 80,155,641 (GRCm39)	S346*	probably null	Het
Ccnt2	T	G	1: 127,727,182 (GRCm39)	C199G	probably damaging	Het
Cd151	A	T	7: 141,050,504 (GRCm39)	H219L	probably damaging	Het
Cd200r2	A	T	16: 44,735,410 (GRCm39)	R248S	probably damaging	Het
Cdh3	A	G	8: 107,282,078 (GRCm39)	D822G	possibly damaging	Het
Clec4b1	T	C	6: 123,046,729 (GRCm39)		probably null	Het
Cluh	C	A	11: 74,556,812 (GRCm39)	L951I	probably benign	Het
Cog7	A	T	7: 121,562,494 (GRCm39)		probably null	Het
Col25a1	C	A	3: 130,270,043 (GRCm39)	P197Q	probably damaging	Het
Csde1	T	A	3: 102,963,742 (GRCm39)	S636R	possibly damaging	Het
Ect2l	C	A	10: 18,075,688 (GRCm39)	C66F	possibly damaging	Het
Elac2	T	C	11: 64,890,262 (GRCm39)	M671T	probably benign	Het
Evi5	T	C	5: 107,969,614 (GRCm39)	N143S	probably benign	Het
Ext2	A	G	2: 93,636,430 (GRCm39)	V228A	probably damaging	Het
Fbxo38	A	G	18: 62,639,051 (GRCm39)	Y1084H	probably damaging	Het
Fcgr4	T	A	1: 170,856,760 (GRCm39)	L209Q	probably damaging	Het
Fgd3	C	T	13: 49,450,000 (GRCm39)	S83N	probably benign	Het
Gigyf2	T	A	1: 87,349,215 (GRCm39)	M664K	probably benign	Het
Il27ra	A	T	8: 84,766,128 (GRCm39)	S219T	probably benign	Het
Itprid2	A	G	2: 79,487,690 (GRCm39)	D591G	probably benign	Het
Kif15	T	C	9: 122,826,862 (GRCm39)	V800A	probably damaging	Het
Lmo7	T	A	14: 102,137,996 (GRCm39)	D666E	probably damaging	Het
Lrp5	T	C	19: 3,678,295 (GRCm39)	D520G	probably damaging	Het
Lrriq3	T	A	3: 154,893,934 (GRCm39)	M545K	probably benign	Het
Lsm5	T	A	6: 56,680,310 (GRCm39)	D44V	probably damaging	Het
Man1c1	G	T	4: 134,296,379 (GRCm39)	Y430*	probably null	Het
Map4	T	A	9: 109,866,346 (GRCm39)		probably null	Het
Megf6	A	G	4: 154,343,398 (GRCm39)	K561R	probably benign	Het
Myo1e	T	C	9: 70,229,680 (GRCm39)	Y173H	probably damaging	Het
Myo6	T	A	9: 80,190,823 (GRCm39)	S791R	possibly damaging	Het
Nol11	C	A	11: 107,075,597 (GRCm39)	E144*	probably null	Het
Ntng2	C	T	2: 29,087,074 (GRCm39)	R416Q	probably damaging	Het
Nxpe3	T	A	16: 55,686,880 (GRCm39)	I43F	possibly damaging	Het
Or4g17	T	A	2: 111,209,837 (GRCm39)	V164E	possibly damaging	Het
Or5t5	A	T	2: 86,616,691 (GRCm39)	T206S	possibly damaging	Het
Pkd1l2	T	C	8: 117,808,999 (GRCm39)	I64V	probably damaging	Het
Prf1	G	A	10: 61,136,033 (GRCm39)	R103H	probably benign	Het
Rest	A	G	5: 77,428,874 (GRCm39)	D431G	probably damaging	Het
Serpina10	A	T	12: 103,583,127 (GRCm39)	L439Q	probably damaging	Het
Sgk3	T	G	1: 9,951,804 (GRCm39)	V176G	probably damaging	Het
Slc19a3	A	G	1: 83,000,454 (GRCm39)	S188P	probably damaging	Het
Sorbs1	A	G	19: 40,338,392 (GRCm39)	I336T	probably damaging	Het
Strip1	C	T	3: 107,527,355 (GRCm39)		probably null	Het
Syt4	T	C	18: 31,576,799 (GRCm39)	E185G	possibly damaging	Het
Tcaf3	T	A	6: 42,566,738 (GRCm39)	I784F	probably damaging	Het
Tgfbr3l	G	T	8: 4,299,439 (GRCm39)	R74L	possibly damaging	Het
Thoc7	A	G	14: 13,949,282 (GRCm38)	M194T	probably benign	Het
Thsd7b	T	C	1: 129,879,129 (GRCm39)	Y989H	probably damaging	Het
Tmem156	C	T	5: 65,233,161 (GRCm39)	V134I	probably benign	Het
Tnks	A	T	8: 35,320,457 (GRCm39)	V738E	probably benign	Het
Trpm6	A	T	19: 18,770,240 (GRCm39)	I342F	probably damaging	Het
Vmn2r69	A	T	7: 85,060,711 (GRCm39)	V291D	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 112,207,172 (GRCm39)		probably benign	Het
Wnk1	T	C	6: 119,928,953 (GRCm39)	T1292A	probably damaging	Het
Yes1	T	A	5: 32,812,584 (GRCm39)	C285S	probably benign	Het
Zbed6	T	C	1: 133,586,472 (GRCm39)	I288M	probably damaging	Het
Zbtb49	T	C	5: 38,371,263 (GRCm39)	N206S	probably benign	Het

Other mutations in Akap8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Akap8	APN	17	32,536,254 (GRCm39)	missense	probably damaging	1.00
IGL01450:Akap8	APN	17	32,534,661 (GRCm39)	missense	probably damaging	1.00
IGL02002:Akap8	APN	17	32,528,470 (GRCm39)	missense	probably damaging	1.00
IGL02223:Akap8	APN	17	32,535,621 (GRCm39)	missense	probably damaging	1.00
IGL02315:Akap8	APN	17	32,524,475 (GRCm39)	missense	probably benign	0.01
IGL03404:Akap8	APN	17	32,531,250 (GRCm39)	splice site	probably benign
BB006:Akap8	UTSW	17	32,528,419 (GRCm39)	missense	probably damaging	1.00
BB016:Akap8	UTSW	17	32,528,419 (GRCm39)	missense	probably damaging	1.00
R0310:Akap8	UTSW	17	32,535,234 (GRCm39)	missense	possibly damaging	0.81
R1795:Akap8	UTSW	17	32,534,451 (GRCm39)	missense	probably damaging	1.00
R1992:Akap8	UTSW	17	32,535,586 (GRCm39)	missense	probably damaging	0.99
R2571:Akap8	UTSW	17	32,534,429 (GRCm39)	missense	probably damaging	1.00
R2918:Akap8	UTSW	17	32,524,622 (GRCm39)	missense	probably benign	0.01
R3423:Akap8	UTSW	17	32,535,429 (GRCm39)	missense	possibly damaging	0.61
R3870:Akap8	UTSW	17	32,536,813 (GRCm39)	unclassified	probably benign
R4077:Akap8	UTSW	17	32,531,272 (GRCm39)	missense	probably damaging	1.00
R4078:Akap8	UTSW	17	32,531,272 (GRCm39)	missense	probably damaging	1.00
R4379:Akap8	UTSW	17	32,525,534 (GRCm39)	missense	probably damaging	0.99
R4756:Akap8	UTSW	17	32,535,184 (GRCm39)	missense	probably damaging	0.98
R4819:Akap8	UTSW	17	32,531,279 (GRCm39)	missense	probably damaging	1.00
R5091:Akap8	UTSW	17	32,535,208 (GRCm39)	missense	probably benign	0.05
R5761:Akap8	UTSW	17	32,536,159 (GRCm39)	missense	possibly damaging	0.56
R6896:Akap8	UTSW	17	32,536,305 (GRCm39)	missense	probably benign	0.00
R7138:Akap8	UTSW	17	32,535,515 (GRCm39)	missense	possibly damaging	0.86
R7350:Akap8	UTSW	17	32,535,549 (GRCm39)	missense	possibly damaging	0.92
R7929:Akap8	UTSW	17	32,528,419 (GRCm39)	missense	probably damaging	1.00
R8693:Akap8	UTSW	17	32,529,625 (GRCm39)	missense	probably damaging	1.00
R8810:Akap8	UTSW	17	32,525,504 (GRCm39)	missense	probably damaging	1.00
R9521:Akap8	UTSW	17	32,530,036 (GRCm39)	missense	possibly damaging	0.89
X0020:Akap8	UTSW	17	32,534,724 (GRCm39)	missense	probably benign	0.08
Z1176:Akap8	UTSW	17	32,525,523 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGCCATAATCACCTGTCTCGGTCC -3'
(R):5'- CGTATCAGAGCTAGGCTGACCTGAAG -3'

Sequencing Primer
(F):5'- ACCGCTGCTGATCCCAC -3'
(R):5'- AGGAAACAAGTCCTTCTGTCTC -3'

Posted On

2013-06-12