Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02002:Akap8'

183102

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap8

Ensembl Gene

ENSMUSG00000024045

Gene Name

A kinase anchor protein 8

Synonyms

AKAP95, 1200016A02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02002

Quality Score

Status

Chromosome

Chromosomal Location

32522646-32540212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32528470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 481 (C481R)

Ref Sequence

ENSEMBL: ENSMUSP00000002699 (fasta)

Gene Model

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

AlphaFold

Q9DBR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000002699
AA Change: C481R

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

SMART Domains

Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: C481R

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

Coding Region Coverage

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	G	T	17: 84,989,479 (GRCm39)	Y76*	probably null	Het
Acadsb	T	A	7: 131,030,258 (GRCm39)	V135E	probably damaging	Het
Acap1	A	G	11: 69,775,286 (GRCm39)	Y326H	probably damaging	Het
Actl11	T	A	9: 107,806,529 (GRCm39)	V284D	probably benign	Het
Adcy10	G	T	1: 165,349,412 (GRCm39)	D428Y	probably damaging	Het
Amotl2	G	A	9: 102,602,316 (GRCm39)	A26T	probably damaging	Het
Apob	T	C	12: 8,044,822 (GRCm39)	V814A	probably benign	Het
Casp8ap2	T	A	4: 32,639,391 (GRCm39)	N148K	probably damaging	Het
Ccdc149	G	A	5: 52,563,421 (GRCm39)	T124M	probably damaging	Het
Cd320	A	G	17: 34,062,214 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,638,194 (GRCm39)	T23A	probably benign	Het
Col22a1	A	G	15: 71,682,946 (GRCm39)		probably benign	Het
Col24a1	T	A	3: 145,062,699 (GRCm39)	F675I	possibly damaging	Het
Col6a3	A	G	1: 90,709,858 (GRCm39)		probably benign	Het
Dap3	A	T	3: 88,843,535 (GRCm39)	M19K	probably benign	Het
Dsg2	A	G	18: 20,712,233 (GRCm39)	D123G	probably damaging	Het
Dysf	T	A	6: 84,187,769 (GRCm39)		probably benign	Het
Erbb4	A	G	1: 68,119,885 (GRCm39)	S853P	probably damaging	Het
Fbn2	A	G	18: 58,247,625 (GRCm39)	M423T	probably benign	Het
Fcgbpl1	A	T	7: 27,852,221 (GRCm39)	Y1248F	probably damaging	Het
Fgfr1	T	C	8: 26,045,727 (GRCm39)	Y112H	probably damaging	Het
Gbp7	G	A	3: 142,244,661 (GRCm39)	A203T	probably damaging	Het
Gon4l	C	T	3: 88,802,643 (GRCm39)	P1085S	possibly damaging	Het
Gsdma2	T	C	11: 98,541,800 (GRCm39)	F176L	probably damaging	Het
Haghl	A	G	17: 26,003,239 (GRCm39)	F131S	probably damaging	Het
Hmcn1	G	A	1: 150,491,049 (GRCm39)	P4167S	probably damaging	Het
Hscb	T	C	5: 110,978,820 (GRCm39)	N199D	probably benign	Het
Lmbr1l	T	A	15: 98,802,666 (GRCm39)	N428Y	probably damaging	Het
Mc2r	T	A	18: 68,540,505 (GRCm39)	M263L	probably benign	Het
Metap1	T	A	3: 138,168,150 (GRCm39)	T325S	probably damaging	Het
Mff	A	G	1: 82,719,696 (GRCm39)	R225G	probably damaging	Het
Naprt	A	T	15: 75,763,221 (GRCm39)	L474Q	probably damaging	Het
Nin	A	T	12: 70,109,473 (GRCm39)	Y155*	probably null	Het
Nrg3	A	T	14: 38,092,724 (GRCm39)	C612*	probably null	Het
Or2aj5	T	C	16: 19,425,300 (GRCm39)	I39M	possibly damaging	Het
Or5p52	A	T	7: 107,502,497 (GRCm39)	D191V	possibly damaging	Het
Or6c35	T	A	10: 129,168,996 (GRCm39)	I82K	probably damaging	Het
Pdilt	A	T	7: 119,099,667 (GRCm39)	F200L	probably damaging	Het
Ppard	T	G	17: 28,517,877 (GRCm39)	F315C	probably damaging	Het
Ror1	T	A	4: 100,298,381 (GRCm39)	S585T	probably damaging	Het
Spdye4a	T	A	5: 143,211,460 (GRCm39)	I35F	possibly damaging	Het
Tenm2	T	C	11: 36,097,922 (GRCm39)	K442R	probably benign	Het
Tln2	A	G	9: 67,263,980 (GRCm39)	I553T	probably damaging	Het
Tmem269	T	A	4: 119,071,338 (GRCm39)	I26F	probably benign	Het
Tsen2	T	C	6: 115,536,568 (GRCm39)	V108A	probably benign	Het
Ttyh3	A	T	5: 140,615,238 (GRCm39)	D383E	probably damaging	Het
Tut7	A	G	13: 59,929,910 (GRCm39)	S1042P	possibly damaging	Het
Usp13	T	C	3: 32,901,974 (GRCm39)	S102P	probably damaging	Het
Vmn2r118	T	G	17: 55,899,619 (GRCm39)	S762R	probably damaging	Het
Washc4	A	G	10: 83,415,407 (GRCm39)	N799S	possibly damaging	Het
Zdhhc17	C	T	10: 110,803,550 (GRCm39)	V256I	probably benign	Het
Zfp51	T	A	17: 21,684,221 (GRCm39)	F279I	probably damaging	Het
Zzz3	A	G	3: 152,157,006 (GRCm39)	T223A	probably damaging	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
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
R0526:Akap8	UTSW	17	32,536,266 (GRCm39)	missense	probably benign	0.28
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

Posted On

2014-05-07