Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02547:Akap6'

297886

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase anchor protein 6

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

IGL02547

Quality Score

Status

Chromosome

Chromosomal Location

52746166-53202382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53187479 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1631 (L1631H)

Ref Sequence

ENSEMBL: ENSMUSP00000093406 (fasta)

Gene Model

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

AlphaFold

E9Q9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095737
AA Change: L1631H

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

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: L1631H

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

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7ip	T	A	6: 136,580,274 (GRCm39)		probably benign	Het
Atp5po	A	T	16: 91,725,849 (GRCm39)	Y48N	probably damaging	Het
Birc6	T	G	17: 74,886,640 (GRCm39)	M656R	probably benign	Het
Camkk1	A	G	11: 72,929,259 (GRCm39)	R455G	probably benign	Het
Casr	A	T	16: 36,336,036 (GRCm39)	M91K	probably benign	Het
Ccdc28a	A	T	10: 18,089,894 (GRCm39)	V124D	possibly damaging	Het
Ccnh	T	C	13: 85,350,623 (GRCm39)		probably benign	Het
Cdc37	G	T	9: 21,051,262 (GRCm39)		probably benign	Het
Cdon	A	G	9: 35,389,950 (GRCm39)	D868G	probably damaging	Het
Cstdc3	A	T	16: 36,132,888 (GRCm39)		probably benign	Het
Cyp4f15	A	G	17: 32,919,229 (GRCm39)	R351G	probably benign	Het
Dclk3	T	C	9: 111,298,091 (GRCm39)	I545T	probably damaging	Het
Dock4	A	G	12: 40,787,478 (GRCm39)	M798V	probably benign	Het
Gas7	A	T	11: 67,556,261 (GRCm39)	Q200L	probably damaging	Het
Ica1	T	C	6: 8,670,691 (GRCm39)		probably null	Het
Idh3a	T	A	9: 54,499,679 (GRCm39)	V31D	probably benign	Het
Il3ra	A	T	14: 14,351,970 (GRCm38)	T247S	probably benign	Het
Itgb7	A	G	15: 102,126,945 (GRCm39)	C497R	probably damaging	Het
Itm2c	T	C	1: 85,834,182 (GRCm39)	Y166H	probably damaging	Het
Mphosph8	A	G	14: 56,909,941 (GRCm39)	D98G	probably damaging	Het
Mstn	A	T	1: 53,103,284 (GRCm39)	I207F	probably benign	Het
Muc15	A	G	2: 110,561,650 (GRCm39)	R29G	probably damaging	Het
Neb	T	A	2: 52,078,742 (GRCm39)	T142S	probably damaging	Het
Nipbl	G	A	15: 8,381,082 (GRCm39)	T570I	probably benign	Het
Nr5a2	T	A	1: 136,868,665 (GRCm39)	M196L	probably benign	Het
Nrp1	C	A	8: 129,219,512 (GRCm39)	F643L	probably benign	Het
Or52ad1	A	G	7: 102,995,451 (GRCm39)	F228S	probably damaging	Het
Or52z15	T	C	7: 103,331,973 (GRCm39)	I16T	probably benign	Het
Or5a3	A	T	19: 12,399,675 (GRCm39)	M1L	probably benign	Het
Or8h8	A	G	2: 86,753,372 (GRCm39)	F168S	probably damaging	Het
Osbpl9	C	T	4: 108,925,680 (GRCm39)	W446*	probably null	Het
Pced1a	T	C	2: 130,261,627 (GRCm39)	D342G	possibly damaging	Het
Pira13	T	C	7: 3,824,660 (GRCm39)	D573G	probably damaging	Het
Prkcd	C	A	14: 30,321,426 (GRCm39)	W555L	probably damaging	Het
Prpf31	T	C	7: 3,633,898 (GRCm39)	S78P	probably benign	Het
Psg27	T	C	7: 18,294,553 (GRCm39)	T285A	probably benign	Het
Retreg3	A	T	11: 100,997,204 (GRCm39)	L92*	probably null	Het
Rmdn1	A	G	4: 19,605,501 (GRCm39)	K282E	possibly damaging	Het
Septin8	G	T	11: 53,428,092 (GRCm39)	R302L	probably damaging	Het
Serpina3a	A	G	12: 104,082,802 (GRCm39)	I192V	probably damaging	Het
Sgce	T	C	6: 4,711,301 (GRCm39)		probably benign	Het
Slco1a8	A	T	6: 141,936,116 (GRCm39)	L323Q	probably damaging	Het
Spats1	A	T	17: 45,785,743 (GRCm39)		probably benign	Het
Tcerg1l	C	T	7: 137,850,100 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,559,730 (GRCm39)	V21230A	probably damaging	Het
Ubxn11	A	C	4: 133,836,895 (GRCm39)	D41A	possibly damaging	Het
Vps13c	T	G	9: 67,815,301 (GRCm39)	I979S	possibly damaging	Het
Zc3h6	T	A	2: 128,857,531 (GRCm39)	H683Q	probably benign	Het
Zfp1007	C	T	5: 109,826,628 (GRCm39)		probably null	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp629	T	C	7: 127,210,846 (GRCm39)		probably null	Het

Other mutations in Akap6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Akap6	APN	12	53,187,763 (GRCm39)	missense	possibly damaging	0.79
IGL00505:Akap6	APN	12	52,933,885 (GRCm39)	missense	possibly damaging	0.92
IGL01134:Akap6	APN	12	52,984,000 (GRCm39)	missense	probably damaging	0.96
IGL01458:Akap6	APN	12	52,933,601 (GRCm39)	nonsense	probably null
IGL01589:Akap6	APN	12	53,186,447 (GRCm39)	missense	probably damaging	1.00
IGL01592:Akap6	APN	12	53,188,925 (GRCm39)	missense	probably damaging	1.00
IGL01738:Akap6	APN	12	52,933,600 (GRCm39)	missense	probably damaging	0.99
IGL01867:Akap6	APN	12	52,934,791 (GRCm39)	missense	probably damaging	1.00
IGL02025:Akap6	APN	12	53,187,118 (GRCm39)	missense	probably benign
IGL02041:Akap6	APN	12	53,187,436 (GRCm39)	missense	probably damaging	1.00
IGL02058:Akap6	APN	12	53,187,338 (GRCm39)	missense	probably damaging	1.00
IGL02194:Akap6	APN	12	52,933,606 (GRCm39)	missense	probably benign	0.00
IGL02226:Akap6	APN	12	53,057,250 (GRCm39)	splice site	probably benign
IGL02323:Akap6	APN	12	53,187,212 (GRCm39)	missense	probably benign	0.00
IGL02449:Akap6	APN	12	53,186,971 (GRCm39)	missense	probably damaging	1.00
IGL02475:Akap6	APN	12	53,186,277 (GRCm39)	missense	probably benign	0.03
IGL02546:Akap6	APN	12	52,927,521 (GRCm39)	missense	probably damaging	1.00
IGL02588:Akap6	APN	12	52,933,282 (GRCm39)	nonsense	probably null
IGL02608:Akap6	APN	12	53,057,389 (GRCm39)	missense	probably benign	0.39
IGL02884:Akap6	APN	12	52,933,405 (GRCm39)	missense	probably benign	0.00
IGL02945:Akap6	APN	12	52,927,620 (GRCm39)	missense	probably damaging	1.00
IGL03029:Akap6	APN	12	52,933,195 (GRCm39)	missense	probably damaging	1.00
IGL03129:Akap6	APN	12	53,187,089 (GRCm39)	missense	probably damaging	1.00
R0133:Akap6	UTSW	12	53,186,254 (GRCm39)	nonsense	probably null
R0166:Akap6	UTSW	12	53,187,707 (GRCm39)	missense	probably benign	0.04
R0189:Akap6	UTSW	12	53,188,037 (GRCm39)	missense	probably benign	0.41
R0532:Akap6	UTSW	12	52,934,766 (GRCm39)	missense	probably benign	0.00
R0632:Akap6	UTSW	12	52,983,931 (GRCm39)	missense	probably damaging	1.00
R0666:Akap6	UTSW	12	52,958,591 (GRCm39)	missense	probably damaging	1.00
R0723:Akap6	UTSW	12	53,188,685 (GRCm39)	missense	probably damaging	1.00
R0763:Akap6	UTSW	12	53,188,997 (GRCm39)	missense	possibly damaging	0.93
R0785:Akap6	UTSW	12	52,933,405 (GRCm39)	missense	probably benign	0.00
R0879:Akap6	UTSW	12	52,927,582 (GRCm39)	missense	probably damaging	1.00
R0880:Akap6	UTSW	12	53,186,291 (GRCm39)	missense	possibly damaging	0.93
R1033:Akap6	UTSW	12	53,116,005 (GRCm39)	missense	probably damaging	0.97
R1055:Akap6	UTSW	12	52,927,455 (GRCm39)	nonsense	probably null
R1199:Akap6	UTSW	12	52,842,973 (GRCm39)	missense	probably damaging	1.00
R1295:Akap6	UTSW	12	52,933,812 (GRCm39)	missense	probably damaging	1.00
R1389:Akap6	UTSW	12	53,186,303 (GRCm39)	missense	probably benign	0.15
R1471:Akap6	UTSW	12	53,188,279 (GRCm39)	missense	probably benign	0.05
R1483:Akap6	UTSW	12	52,842,870 (GRCm39)	missense	probably damaging	1.00
R1512:Akap6	UTSW	12	52,983,937 (GRCm39)	missense	probably damaging	1.00
R1648:Akap6	UTSW	12	53,188,789 (GRCm39)	nonsense	probably null
R1791:Akap6	UTSW	12	53,115,908 (GRCm39)	missense	probably damaging	1.00
R1888:Akap6	UTSW	12	53,188,958 (GRCm39)	missense	possibly damaging	0.88
R1888:Akap6	UTSW	12	53,188,958 (GRCm39)	missense	possibly damaging	0.88
R1891:Akap6	UTSW	12	53,188,958 (GRCm39)	missense	possibly damaging	0.88
R1899:Akap6	UTSW	12	53,188,635 (GRCm39)	missense	possibly damaging	0.95
R1917:Akap6	UTSW	12	53,151,395 (GRCm39)	missense	probably benign	0.13
R1970:Akap6	UTSW	12	52,985,258 (GRCm39)	missense	probably damaging	0.96
R1987:Akap6	UTSW	12	53,187,578 (GRCm39)	missense	possibly damaging	0.78
R1988:Akap6	UTSW	12	53,187,578 (GRCm39)	missense	possibly damaging	0.78
R2153:Akap6	UTSW	12	53,188,187 (GRCm39)	missense	probably benign	0.03
R2567:Akap6	UTSW	12	52,985,156 (GRCm39)	missense	probably damaging	1.00
R2568:Akap6	UTSW	12	52,934,061 (GRCm39)	missense	possibly damaging	0.77
R3025:Akap6	UTSW	12	53,186,926 (GRCm39)	missense	probably benign
R3051:Akap6	UTSW	12	52,933,816 (GRCm39)	missense	probably damaging	1.00
R3195:Akap6	UTSW	12	53,119,240 (GRCm39)	nonsense	probably null
R3196:Akap6	UTSW	12	53,119,240 (GRCm39)	nonsense	probably null
R3426:Akap6	UTSW	12	52,934,817 (GRCm39)	missense	probably damaging	1.00
R3783:Akap6	UTSW	12	52,927,552 (GRCm39)	missense	probably damaging	1.00
R3934:Akap6	UTSW	12	53,187,227 (GRCm39)	missense	possibly damaging	0.92
R3936:Akap6	UTSW	12	53,187,227 (GRCm39)	missense	possibly damaging	0.92
R3967:Akap6	UTSW	12	53,188,236 (GRCm39)	missense	probably damaging	1.00
R3970:Akap6	UTSW	12	53,188,236 (GRCm39)	missense	probably damaging	1.00
R4042:Akap6	UTSW	12	53,186,162 (GRCm39)	critical splice acceptor site	probably null
R4095:Akap6	UTSW	12	53,186,245 (GRCm39)	missense	probably damaging	1.00
R4152:Akap6	UTSW	12	53,187,190 (GRCm39)	missense	probably benign	0.45
R4231:Akap6	UTSW	12	53,187,821 (GRCm39)	missense	probably damaging	1.00
R4232:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4233:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4234:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4235:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4236:Akap6	UTSW	12	53,186,454 (GRCm39)	missense	probably damaging	1.00
R4475:Akap6	UTSW	12	53,188,426 (GRCm39)	missense	probably benign	0.00
R4513:Akap6	UTSW	12	52,842,787 (GRCm39)	missense	probably benign	0.03
R4686:Akap6	UTSW	12	52,934,406 (GRCm39)	frame shift	probably null
R4724:Akap6	UTSW	12	52,842,668 (GRCm39)	missense	possibly damaging	0.80
R4782:Akap6	UTSW	12	52,934,406 (GRCm39)	frame shift	probably null
R4852:Akap6	UTSW	12	53,151,458 (GRCm39)	missense	probably damaging	1.00
R5024:Akap6	UTSW	12	53,189,345 (GRCm39)	missense	probably benign	0.01
R5116:Akap6	UTSW	12	53,188,298 (GRCm39)	missense	probably benign	0.01
R5164:Akap6	UTSW	12	53,189,249 (GRCm39)	missense	probably benign
R5225:Akap6	UTSW	12	52,933,329 (GRCm39)	missense	probably damaging	1.00
R5269:Akap6	UTSW	12	53,186,626 (GRCm39)	missense	probably damaging	0.99
R5352:Akap6	UTSW	12	52,842,880 (GRCm39)	missense	probably damaging	1.00
R5496:Akap6	UTSW	12	53,187,436 (GRCm39)	missense	possibly damaging	0.87
R5551:Akap6	UTSW	12	52,842,747 (GRCm39)	missense	probably damaging	1.00
R5997:Akap6	UTSW	12	52,984,016 (GRCm39)	critical splice donor site	probably null
R6137:Akap6	UTSW	12	53,187,137 (GRCm39)	missense	probably damaging	1.00
R6151:Akap6	UTSW	12	53,072,575 (GRCm39)	missense	probably damaging	1.00
R6169:Akap6	UTSW	12	53,189,141 (GRCm39)	missense	probably benign
R6307:Akap6	UTSW	12	53,188,351 (GRCm39)	missense	possibly damaging	0.85
R6351:Akap6	UTSW	12	53,188,808 (GRCm39)	missense	probably damaging	0.98
R6479:Akap6	UTSW	12	53,187,952 (GRCm39)	missense	probably damaging	1.00
R6502:Akap6	UTSW	12	53,186,998 (GRCm39)	missense	probably damaging	1.00
R6760:Akap6	UTSW	12	53,186,561 (GRCm39)	missense	probably damaging	1.00
R6778:Akap6	UTSW	12	53,072,599 (GRCm39)	missense	probably damaging	1.00
R6837:Akap6	UTSW	12	53,188,045 (GRCm39)	missense	probably damaging	1.00
R6896:Akap6	UTSW	12	52,934,277 (GRCm39)	missense	probably benign	0.06
R6917:Akap6	UTSW	12	53,115,951 (GRCm39)	missense	probably null	0.97
R6983:Akap6	UTSW	12	52,934,436 (GRCm39)	missense	probably damaging	1.00
R7142:Akap6	UTSW	12	52,934,147 (GRCm39)	missense	probably benign	0.02
R7143:Akap6	UTSW	12	52,934,147 (GRCm39)	missense	probably benign	0.02
R7216:Akap6	UTSW	12	53,187,240 (GRCm39)	missense	probably benign	0.02
R7297:Akap6	UTSW	12	52,934,147 (GRCm39)	missense	probably benign	0.02
R7356:Akap6	UTSW	12	52,958,647 (GRCm39)	missense	probably damaging	1.00
R7378:Akap6	UTSW	12	53,189,357 (GRCm39)	missense	probably benign	0.00
R7382:Akap6	UTSW	12	53,188,954 (GRCm39)	missense	probably benign	0.00
R7498:Akap6	UTSW	12	53,189,488 (GRCm39)	nonsense	probably null
R7542:Akap6	UTSW	12	53,116,017 (GRCm39)	missense	probably damaging	1.00
R7589:Akap6	UTSW	12	53,188,846 (GRCm39)	nonsense	probably null
R7676:Akap6	UTSW	12	52,933,633 (GRCm39)	missense	possibly damaging	0.94
R7814:Akap6	UTSW	12	53,187,744 (GRCm39)	missense	probably benign	0.28
R7971:Akap6	UTSW	12	53,186,578 (GRCm39)	missense	probably damaging	1.00
R8039:Akap6	UTSW	12	53,188,459 (GRCm39)	missense	probably benign	0.00
R8425:Akap6	UTSW	12	52,933,404 (GRCm39)	missense	probably benign	0.00
R8747:Akap6	UTSW	12	53,188,999 (GRCm39)	missense	probably benign	0.01
R8885:Akap6	UTSW	12	53,188,319 (GRCm39)	missense	probably benign
R8956:Akap6	UTSW	12	53,187,127 (GRCm39)	missense	probably benign	0.00
R8989:Akap6	UTSW	12	52,927,654 (GRCm39)	missense	probably damaging	1.00
R9014:Akap6	UTSW	12	53,186,403 (GRCm39)	missense	possibly damaging	0.60
R9031:Akap6	UTSW	12	53,188,831 (GRCm39)	missense	probably benign	0.36
R9216:Akap6	UTSW	12	52,927,668 (GRCm39)	missense	probably benign	0.05
R9220:Akap6	UTSW	12	53,187,232 (GRCm39)	missense	possibly damaging	0.49
R9243:Akap6	UTSW	12	53,188,035 (GRCm39)	missense	probably benign	0.08
R9286:Akap6	UTSW	12	53,119,254 (GRCm39)	missense	possibly damaging	0.90
R9347:Akap6	UTSW	12	53,115,894 (GRCm39)	missense	probably damaging	1.00
R9475:Akap6	UTSW	12	53,057,335 (GRCm39)	missense	probably damaging	1.00
R9509:Akap6	UTSW	12	53,189,021 (GRCm39)	missense	probably damaging	0.99
R9523:Akap6	UTSW	12	52,842,672 (GRCm39)	missense	probably benign	0.02
R9600:Akap6	UTSW	12	52,933,341 (GRCm39)	missense	probably benign	0.04
R9612:Akap6	UTSW	12	52,958,690 (GRCm39)	missense	probably damaging	1.00
R9627:Akap6	UTSW	12	53,151,413 (GRCm39)	missense
R9666:Akap6	UTSW	12	53,188,318 (GRCm39)	missense	probably benign
R9784:Akap6	UTSW	12	53,187,853 (GRCm39)	missense	probably damaging	1.00
X0062:Akap6	UTSW	12	53,189,144 (GRCm39)	missense	probably benign	0.43
Z1176:Akap6	UTSW	12	53,187,227 (GRCm39)	missense	possibly damaging	0.92

Posted On

2015-04-16