Mutagenetix > Incidental Mutation

Incidental Mutation 'R6896:Akap6'

538348

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase (PRKA) anchor protein 6

Synonyms

MMRRC Submission

044990-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R6896 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52699383-53155599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52887494 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 590 (I590F)

Ref Sequence

ENSEMBL: ENSMUSP00000093406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095737] [ENSMUST00000219786]

AlphaFold

E9Q9K8

Predicted Effect

probably benign
Transcript: ENSMUST00000095737
AA Change: I590F

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: I590F

Domain	Start	End	E-Value	Type
low complexity region	34	51	N/A	INTRINSIC
Blast:SPEC	66	168	2e-50	BLAST
low complexity region	441	455	N/A	INTRINSIC
low complexity region	544	555	N/A	INTRINSIC
low complexity region	569	587	N/A	INTRINSIC
low complexity region	640	651	N/A	INTRINSIC
low complexity region	694	708	N/A	INTRINSIC
SPEC	779	880	1.06e-1	SMART
SPEC	959	1057	1.45e0	SMART
SPEC	1078	1185	2.56e-2	SMART
low complexity region	1316	1332	N/A	INTRINSIC
low complexity region	1555	1568	N/A	INTRINSIC
low complexity region	1610	1622	N/A	INTRINSIC
low complexity region	1683	1698	N/A	INTRINSIC
low complexity region	1737	1781	N/A	INTRINSIC
low complexity region	1899	1910	N/A	INTRINSIC
low complexity region	2019	2031	N/A	INTRINSIC
low complexity region	2104	2115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000219786
AA Change: I590F

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.1757

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (49/50)

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 is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]
PHENOTYPE: Targeted disruption of this gene results in partial embryonic lethality; surviving homozygotes display a decreased body weight, craniofacial defects and reduced viability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg2	T	C	6: 58,683,313	L454P	probably damaging	Het
Acadm	T	C	3: 153,936,320	I192V	probably damaging	Het
Acadsb	T	A	7: 131,443,646	Y436N	probably benign	Het
Ache	G	A	5: 137,291,734	V442M	probably damaging	Het
Adam39	A	T	8: 40,824,938	N122I	possibly damaging	Het
Akap8	T	C	17: 32,317,331	N36S	probably benign	Het
Asap2	T	C	12: 21,265,525	S933P	probably damaging	Het
C3	C	T	17: 57,220,864		probably null	Het
Cdon	T	A	9: 35,452,106	M1K	probably null	Het
Cemip	T	A	7: 83,998,576	I99F	probably damaging	Het
Cfap58	T	G	19: 47,944,187	L130R	probably damaging	Het
Clca3a2	T	C	3: 144,808,701	D415G	probably damaging	Het
Coch	A	G	12: 51,602,869	D321G	possibly damaging	Het
Efcab11	A	G	12: 99,883,415		probably benign	Het
Ermap	G	T	4: 119,187,131	S156*	probably null	Het
Fap	G	T	2: 62,504,600	Y620*	probably null	Het
Galntl5	T	C	5: 25,189,949		probably null	Het
Il21r	C	A	7: 125,626,956	H76N	probably damaging	Het
Itpr1	T	G	6: 108,481,394	Y2041D	probably damaging	Het
Megf8	T	A	7: 25,329,932	N300K	probably benign	Het
Muc2	G	A	7: 141,752,695	V285I	possibly damaging	Het
Myh15	A	T	16: 49,113,071	Q623L	probably benign	Het
Myh7b	T	C	2: 155,622,568		probably null	Het
Naaladl1	T	A	19: 6,109,305		probably null	Het
Nlrp9b	T	G	7: 20,023,245	F136V	probably damaging	Het
Olfr1006	A	G	2: 85,674,933	Y73H	probably damaging	Het
Olfr1193	A	G	2: 88,677,996	N47S	probably damaging	Het
Olfr516	T	C	7: 108,845,543	T156A	probably benign	Het
Olfr814	A	T	10: 129,874,754	M1K	probably null	Het
Oprd1	A	T	4: 132,117,301	M132K	probably damaging	Het
Patj	T	A	4: 98,426,050	V369D	possibly damaging	Het
Pcdhb3	T	C	18: 37,301,212	L77P	probably damaging	Het
Pcf11	T	C	7: 92,649,551	D1259G	probably damaging	Het
Pdcl	A	T	2: 37,352,179	H186Q	probably damaging	Het
Pdzd9	A	T	7: 120,662,872	*77R	probably null	Het
Reln	C	T	5: 21,899,179	E3265K	probably benign	Het
Smg8	T	C	11: 87,077,961	T990A	possibly damaging	Het
Smok2a	C	T	17: 13,225,871	H112Y	probably benign	Het
Spatc1l	G	A	10: 76,569,408	R208H	probably damaging	Het
Taf7	T	C	18: 37,642,680	D278G	possibly damaging	Het
Vipas39	T	C	12: 87,242,571	N373S	probably benign	Het
Vmn2r78	C	T	7: 86,922,350	T456I	probably benign	Het
Vwf	T	C	6: 125,566,194	S148P	probably damaging	Het
Wdr60	C	T	12: 116,229,671	G554R	possibly damaging	Het
Wdr66	A	G	5: 123,278,358	T565A	possibly damaging	Het
Xpot	A	C	10: 121,613,485		probably null	Het
Zdbf2	A	T	1: 63,308,872	R2137W	probably damaging	Het
Zfp462	T	A	4: 55,009,544	N503K	possibly damaging	Het
Zfp641	T	A	15: 98,293,803	M1L	probably benign	Het

Other mutations in Akap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Akap6	APN	12	53,140,980 (GRCm38)	missense	possibly damaging	0.79
IGL00505:Akap6	APN	12	52,887,102 (GRCm38)	missense	possibly damaging	0.92
IGL01134:Akap6	APN	12	52,937,217 (GRCm38)	missense	probably damaging	0.96
IGL01458:Akap6	APN	12	52,886,818 (GRCm38)	nonsense	probably null
IGL01589:Akap6	APN	12	53,139,664 (GRCm38)	missense	probably damaging	1.00
IGL01592:Akap6	APN	12	53,142,142 (GRCm38)	missense	probably damaging	1.00
IGL01738:Akap6	APN	12	52,886,817 (GRCm38)	missense	probably damaging	0.99
IGL01867:Akap6	APN	12	52,888,008 (GRCm38)	missense	probably damaging	1.00
IGL02025:Akap6	APN	12	53,140,335 (GRCm38)	missense	probably benign
IGL02041:Akap6	APN	12	53,140,653 (GRCm38)	missense	probably damaging	1.00
IGL02058:Akap6	APN	12	53,140,555 (GRCm38)	missense	probably damaging	1.00
IGL02194:Akap6	APN	12	52,886,823 (GRCm38)	missense	probably benign	0.00
IGL02226:Akap6	APN	12	53,010,467 (GRCm38)	splice site	probably benign
IGL02323:Akap6	APN	12	53,140,429 (GRCm38)	missense	probably benign	0.00
IGL02449:Akap6	APN	12	53,140,188 (GRCm38)	missense	probably damaging	1.00
IGL02475:Akap6	APN	12	53,139,494 (GRCm38)	missense	probably benign	0.03
IGL02546:Akap6	APN	12	52,880,738 (GRCm38)	missense	probably damaging	1.00
IGL02547:Akap6	APN	12	53,140,696 (GRCm38)	missense	probably damaging	1.00
IGL02588:Akap6	APN	12	52,886,499 (GRCm38)	nonsense	probably null
IGL02608:Akap6	APN	12	53,010,606 (GRCm38)	missense	probably benign	0.39
IGL02884:Akap6	APN	12	52,886,622 (GRCm38)	missense	probably benign	0.00
IGL02945:Akap6	APN	12	52,880,837 (GRCm38)	missense	probably damaging	1.00
IGL03029:Akap6	APN	12	52,886,412 (GRCm38)	missense	probably damaging	1.00
IGL03129:Akap6	APN	12	53,140,306 (GRCm38)	missense	probably damaging	1.00
R0133:Akap6	UTSW	12	53,139,471 (GRCm38)	nonsense	probably null
R0166:Akap6	UTSW	12	53,140,924 (GRCm38)	missense	probably benign	0.04
R0189:Akap6	UTSW	12	53,141,254 (GRCm38)	missense	probably benign	0.41
R0532:Akap6	UTSW	12	52,887,983 (GRCm38)	missense	probably benign	0.00
R0632:Akap6	UTSW	12	52,937,148 (GRCm38)	missense	probably damaging	1.00
R0666:Akap6	UTSW	12	52,911,808 (GRCm38)	missense	probably damaging	1.00
R0723:Akap6	UTSW	12	53,141,902 (GRCm38)	missense	probably damaging	1.00
R0763:Akap6	UTSW	12	53,142,214 (GRCm38)	missense	possibly damaging	0.93
R0785:Akap6	UTSW	12	52,886,622 (GRCm38)	missense	probably benign	0.00
R0879:Akap6	UTSW	12	52,880,799 (GRCm38)	missense	probably damaging	1.00
R0880:Akap6	UTSW	12	53,139,508 (GRCm38)	missense	possibly damaging	0.93
R1033:Akap6	UTSW	12	53,069,222 (GRCm38)	missense	probably damaging	0.97
R1055:Akap6	UTSW	12	52,880,672 (GRCm38)	nonsense	probably null
R1199:Akap6	UTSW	12	52,796,190 (GRCm38)	missense	probably damaging	1.00
R1295:Akap6	UTSW	12	52,887,029 (GRCm38)	missense	probably damaging	1.00
R1389:Akap6	UTSW	12	53,139,520 (GRCm38)	missense	probably benign	0.15
R1471:Akap6	UTSW	12	53,141,496 (GRCm38)	missense	probably benign	0.05
R1483:Akap6	UTSW	12	52,796,087 (GRCm38)	missense	probably damaging	1.00
R1512:Akap6	UTSW	12	52,937,154 (GRCm38)	missense	probably damaging	1.00
R1648:Akap6	UTSW	12	53,142,006 (GRCm38)	nonsense	probably null
R1791:Akap6	UTSW	12	53,069,125 (GRCm38)	missense	probably damaging	1.00
R1888:Akap6	UTSW	12	53,142,175 (GRCm38)	missense	possibly damaging	0.88
R1888:Akap6	UTSW	12	53,142,175 (GRCm38)	missense	possibly damaging	0.88
R1891:Akap6	UTSW	12	53,142,175 (GRCm38)	missense	possibly damaging	0.88
R1899:Akap6	UTSW	12	53,141,852 (GRCm38)	missense	possibly damaging	0.95
R1917:Akap6	UTSW	12	53,104,612 (GRCm38)	missense	probably benign	0.13
R1970:Akap6	UTSW	12	52,938,475 (GRCm38)	missense	probably damaging	0.96
R1987:Akap6	UTSW	12	53,140,795 (GRCm38)	missense	possibly damaging	0.78
R1988:Akap6	UTSW	12	53,140,795 (GRCm38)	missense	possibly damaging	0.78
R2153:Akap6	UTSW	12	53,141,404 (GRCm38)	missense	probably benign	0.03
R2567:Akap6	UTSW	12	52,938,373 (GRCm38)	missense	probably damaging	1.00
R2568:Akap6	UTSW	12	52,887,278 (GRCm38)	missense	possibly damaging	0.77
R3025:Akap6	UTSW	12	53,140,143 (GRCm38)	missense	probably benign
R3051:Akap6	UTSW	12	52,887,033 (GRCm38)	missense	probably damaging	1.00
R3195:Akap6	UTSW	12	53,072,457 (GRCm38)	nonsense	probably null
R3196:Akap6	UTSW	12	53,072,457 (GRCm38)	nonsense	probably null
R3426:Akap6	UTSW	12	52,888,034 (GRCm38)	missense	probably damaging	1.00
R3783:Akap6	UTSW	12	52,880,769 (GRCm38)	missense	probably damaging	1.00
R3934:Akap6	UTSW	12	53,140,444 (GRCm38)	missense	possibly damaging	0.92
R3936:Akap6	UTSW	12	53,140,444 (GRCm38)	missense	possibly damaging	0.92
R3967:Akap6	UTSW	12	53,141,453 (GRCm38)	missense	probably damaging	1.00
R3970:Akap6	UTSW	12	53,141,453 (GRCm38)	missense	probably damaging	1.00
R4042:Akap6	UTSW	12	53,139,379 (GRCm38)	critical splice acceptor site	probably null
R4095:Akap6	UTSW	12	53,139,462 (GRCm38)	missense	probably damaging	1.00
R4152:Akap6	UTSW	12	53,140,407 (GRCm38)	missense	probably benign	0.45
R4231:Akap6	UTSW	12	53,141,038 (GRCm38)	missense	probably damaging	1.00
R4232:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4233:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4234:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4235:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4236:Akap6	UTSW	12	53,139,671 (GRCm38)	missense	probably damaging	1.00
R4475:Akap6	UTSW	12	53,141,643 (GRCm38)	missense	probably benign	0.00
R4513:Akap6	UTSW	12	52,796,004 (GRCm38)	missense	probably benign	0.03
R4686:Akap6	UTSW	12	52,887,623 (GRCm38)	frame shift	probably null
R4724:Akap6	UTSW	12	52,795,885 (GRCm38)	missense	possibly damaging	0.80
R4782:Akap6	UTSW	12	52,887,623 (GRCm38)	frame shift	probably null
R4852:Akap6	UTSW	12	53,104,675 (GRCm38)	missense	probably damaging	1.00
R5024:Akap6	UTSW	12	53,142,562 (GRCm38)	missense	probably benign	0.01
R5116:Akap6	UTSW	12	53,141,515 (GRCm38)	missense	probably benign	0.01
R5164:Akap6	UTSW	12	53,142,466 (GRCm38)	missense	probably benign
R5225:Akap6	UTSW	12	52,886,546 (GRCm38)	missense	probably damaging	1.00
R5269:Akap6	UTSW	12	53,139,843 (GRCm38)	missense	probably damaging	0.99
R5352:Akap6	UTSW	12	52,796,097 (GRCm38)	missense	probably damaging	1.00
R5496:Akap6	UTSW	12	53,140,653 (GRCm38)	missense	possibly damaging	0.87
R5551:Akap6	UTSW	12	52,795,964 (GRCm38)	missense	probably damaging	1.00
R5997:Akap6	UTSW	12	52,937,233 (GRCm38)	critical splice donor site	probably null
R6137:Akap6	UTSW	12	53,140,354 (GRCm38)	missense	probably damaging	1.00
R6151:Akap6	UTSW	12	53,025,792 (GRCm38)	missense	probably damaging	1.00
R6169:Akap6	UTSW	12	53,142,358 (GRCm38)	missense	probably benign
R6307:Akap6	UTSW	12	53,141,568 (GRCm38)	missense	possibly damaging	0.85
R6351:Akap6	UTSW	12	53,142,025 (GRCm38)	missense	probably damaging	0.98
R6479:Akap6	UTSW	12	53,141,169 (GRCm38)	missense	probably damaging	1.00
R6502:Akap6	UTSW	12	53,140,215 (GRCm38)	missense	probably damaging	1.00
R6760:Akap6	UTSW	12	53,139,778 (GRCm38)	missense	probably damaging	1.00
R6778:Akap6	UTSW	12	53,025,816 (GRCm38)	missense	probably damaging	1.00
R6837:Akap6	UTSW	12	53,141,262 (GRCm38)	missense	probably damaging	1.00
R6917:Akap6	UTSW	12	53,069,168 (GRCm38)	missense	probably null	0.97
R6983:Akap6	UTSW	12	52,887,653 (GRCm38)	missense	probably damaging	1.00
R7142:Akap6	UTSW	12	52,887,364 (GRCm38)	missense	probably benign	0.02
R7143:Akap6	UTSW	12	52,887,364 (GRCm38)	missense	probably benign	0.02
R7216:Akap6	UTSW	12	53,140,457 (GRCm38)	missense	probably benign	0.02
R7297:Akap6	UTSW	12	52,887,364 (GRCm38)	missense	probably benign	0.02
R7356:Akap6	UTSW	12	52,911,864 (GRCm38)	missense	probably damaging	1.00
R7378:Akap6	UTSW	12	53,142,574 (GRCm38)	missense	probably benign	0.00
R7382:Akap6	UTSW	12	53,142,171 (GRCm38)	missense	probably benign	0.00
R7498:Akap6	UTSW	12	53,142,705 (GRCm38)	nonsense	probably null
R7542:Akap6	UTSW	12	53,069,234 (GRCm38)	missense	probably damaging	1.00
R7589:Akap6	UTSW	12	53,142,063 (GRCm38)	nonsense	probably null
R7676:Akap6	UTSW	12	52,886,850 (GRCm38)	missense	possibly damaging	0.94
R7814:Akap6	UTSW	12	53,140,961 (GRCm38)	missense	probably benign	0.28
R7971:Akap6	UTSW	12	53,139,795 (GRCm38)	missense	probably damaging	1.00
R8039:Akap6	UTSW	12	53,141,676 (GRCm38)	missense	probably benign	0.00
R8425:Akap6	UTSW	12	52,886,621 (GRCm38)	missense	probably benign	0.00
R8747:Akap6	UTSW	12	53,142,216 (GRCm38)	missense	probably benign	0.01
R8885:Akap6	UTSW	12	53,141,536 (GRCm38)	missense	probably benign
R8956:Akap6	UTSW	12	53,140,344 (GRCm38)	missense	probably benign	0.00
R8989:Akap6	UTSW	12	52,880,871 (GRCm38)	missense	probably damaging	1.00
R9014:Akap6	UTSW	12	53,139,620 (GRCm38)	missense	possibly damaging	0.60
R9031:Akap6	UTSW	12	53,142,048 (GRCm38)	missense	probably benign	0.36
R9216:Akap6	UTSW	12	52,880,885 (GRCm38)	missense	probably benign	0.05
R9220:Akap6	UTSW	12	53,140,449 (GRCm38)	missense	possibly damaging	0.49
R9243:Akap6	UTSW	12	53,141,252 (GRCm38)	missense	probably benign	0.08
R9286:Akap6	UTSW	12	53,072,471 (GRCm38)	missense	possibly damaging	0.90
R9347:Akap6	UTSW	12	53,069,111 (GRCm38)	missense	probably damaging	1.00
R9475:Akap6	UTSW	12	53,010,552 (GRCm38)	missense	probably damaging	1.00
R9509:Akap6	UTSW	12	53,142,238 (GRCm38)	missense	probably damaging	0.99
R9523:Akap6	UTSW	12	52,795,889 (GRCm38)	missense	probably benign	0.02
R9600:Akap6	UTSW	12	52,886,558 (GRCm38)	missense	probably benign	0.04
R9612:Akap6	UTSW	12	52,911,907 (GRCm38)	missense	probably damaging	1.00
R9627:Akap6	UTSW	12	53,104,630 (GRCm38)	missense
R9666:Akap6	UTSW	12	53,141,535 (GRCm38)	missense	probably benign
R9784:Akap6	UTSW	12	53,141,070 (GRCm38)	missense	probably damaging	1.00
X0062:Akap6	UTSW	12	53,142,361 (GRCm38)	missense	probably benign	0.43
Z1176:Akap6	UTSW	12	53,140,444 (GRCm38)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- TGGTTCAGGAAAGCAATCCG -3'
(R):5'- TTAGGTTCTCCAGTTTCAGAGC -3'

Sequencing Primer
(F):5'- AATACCAGGAGCTCAGTCGTGC -3'
(R):5'- AGGTTCTCCAGTTTCAGAGCTAACAC -3'

Posted On

2018-11-06