Mutagenetix > Incidental Mutation

Incidental Mutation 'R1389:Akap6'

162551

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase (PRKA) anchor protein 6

Synonyms

MMRRC Submission

039451-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.868) question?

Stock #

R1389 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52699383-53155599 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53139520 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1239 (E1239G)

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: E1239G

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: E1239G

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.6%

Validation Efficiency

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl3	A	C	1: 78,688,282 (GRCm38)	I142L	probably benign	Het
Adgra2	C	T	8: 27,111,088 (GRCm38)	P252L	probably damaging	Het
Arhgef17	TGGAGGAGGAGGAGGAGG	TGGAGGAGGAGGAGG	7: 100,931,037 (GRCm38)		probably benign	Het
Btbd11	A	G	10: 85,640,596 (GRCm38)	T914A	possibly damaging	Het
Calml4	A	T	9: 62,871,266 (GRCm38)	D12V	probably damaging	Het
Car9	G	T	4: 43,512,439 (GRCm38)		probably null	Het
Ccar2	C	A	14: 70,140,109 (GRCm38)	V699L	possibly damaging	Het
Ccdc27	T	C	4: 154,041,769 (GRCm38)	M88V	unknown	Het
Ceacam15	T	C	7: 16,672,063 (GRCm38)	R188G	probably damaging	Het
Dcaf8	G	A	1: 172,174,052 (GRCm38)	R272H	probably benign	Het
Dchs1	A	G	7: 105,755,571 (GRCm38)	V2588A	probably benign	Het
Dst	G	A	1: 34,211,232 (GRCm38)	R1749H	probably damaging	Het
Exog	A	G	9: 119,462,506 (GRCm38)	Q283R	probably benign	Het
Fmnl1	A	T	11: 103,186,709 (GRCm38)		probably null	Het
Gramd1c	T	C	16: 43,990,722 (GRCm38)	D213G	probably damaging	Het
Iqgap1	A	G	7: 80,759,756 (GRCm38)		probably null	Het
Itgae	A	G	11: 73,125,362 (GRCm38)	Y799C	probably damaging	Het
Kalrn	T	C	16: 33,988,803 (GRCm38)	I903V	probably benign	Het
Kcnh1	A	G	1: 192,505,763 (GRCm38)	E844G	probably benign	Het
Khdc1a	A	T	1: 21,350,027 (GRCm38)	D3V	probably damaging	Het
Ly6g	T	C	15: 75,156,766 (GRCm38)	F25S	probably benign	Het
Mapk1ip1	G	A	7: 138,836,727 (GRCm38)		probably benign	Het
Mfsd3	A	G	15: 76,702,689 (GRCm38)	H243R	probably benign	Het
Mms22l	T	A	4: 24,591,076 (GRCm38)	Y1016N	probably damaging	Het
Mrgprb5	A	T	7: 48,168,330 (GRCm38)	V219E	probably damaging	Het
Nars2	G	A	7: 97,002,829 (GRCm38)	S209N	probably benign	Het
Nckap5	T	C	1: 126,026,710 (GRCm38)	T702A	probably damaging	Het
Olfr385	T	C	11: 73,589,543 (GRCm38)	N65S	possibly damaging	Het
Paf1	A	G	7: 28,398,832 (GRCm38)		probably benign	Het
Prl3d1	A	T	13: 27,098,710 (GRCm38)	R145*	probably null	Het
Rasl10b	G	A	11: 83,417,839 (GRCm38)		probably null	Het
Rnf13	T	A	3: 57,779,496 (GRCm38)	N103K	probably damaging	Het
Senp1	T	C	15: 98,075,853 (GRCm38)	S170G	probably benign	Het
Slc46a2	A	G	4: 59,914,620 (GRCm38)	L101P	probably damaging	Het
Tmem123	C	T	9: 7,791,106 (GRCm38)	T136M	probably damaging	Het
Tpo	T	A	12: 30,103,110 (GRCm38)	H415L	probably damaging	Het
Vipr2	A	G	12: 116,137,330 (GRCm38)	I255V	probably benign	Het
Zc3h11a	A	T	1: 133,633,803 (GRCm38)	V310E	probably damaging	Het
Zfp3	T	A	11: 70,772,636 (GRCm38)	C474S	probably damaging	Het
Zfp707	T	A	15: 75,974,616 (GRCm38)	C99S	probably damaging	Het
Zranb1	C	T	7: 132,971,333 (GRCm38)	P410S	probably damaging	Het
Zswim8	G	T	14: 20,710,748 (GRCm38)	R30L	probably damaging	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
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
R6896:Akap6	UTSW	12	52,887,494 (GRCm38)	missense	probably benign	0.06
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'- ATAGCCCACCCCTACAGTGTTTGG -3'
(R):5'- AGTCTCCACTCTGACACGAGTAAGG -3'

Sequencing Primer
(F):5'- ctctctctctctctctctctctc -3'
(R):5'- CTCTTAGTTAAAACAGTGGGCTGC -3'

Posted On

2014-03-17