Mutagenetix > Incidental Mutation

Incidental Mutation 'R1295:Akap6'

158081

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase anchor protein 6

Synonyms

MMRRC Submission

039361-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R1295 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52746166-53202382 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 52933812 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 435 (K435Q)

Ref Sequence

ENSEMBL: ENSMUSP00000151871 (fasta)

Gene Model

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

AlphaFold

E9Q9K8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095737
AA Change: K435Q

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

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: K435Q

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 damaging
Transcript: ENSMUST00000219786
AA Change: K435Q

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

Meta Mutation Damage Score

0.1054

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 93.1%
20x: 82.0%

Validation Efficiency

98% (81/83)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	A	G	9: 121,737,783 (GRCm39)	S53G	possibly damaging	Het
Adgrb1	T	A	15: 74,421,888 (GRCm39)	L886Q	probably damaging	Het
Adprhl1	G	A	8: 13,298,624 (GRCm39)	T102M	probably damaging	Het
Aldh7a1	T	C	18: 56,680,022 (GRCm39)		probably null	Het
Amfr	T	C	8: 94,701,432 (GRCm39)	R507G	probably benign	Het
Ap1m1	T	A	8: 73,005,719 (GRCm39)		probably null	Het
Arhgap29	A	G	3: 121,786,044 (GRCm39)	H275R	probably benign	Het
Arhgef17	C	A	7: 100,530,476 (GRCm39)	E428*	probably null	Het
Atm	A	T	9: 53,367,830 (GRCm39)	V2431E	probably damaging	Het
Atn1	G	T	6: 124,724,750 (GRCm39)	P161Q	unknown	Het
Atp13a2	T	C	4: 140,721,113 (GRCm39)	S99P	probably damaging	Het
Ccar1	C	A	10: 62,619,661 (GRCm39)		probably null	Het
Cdk18	T	C	1: 132,047,698 (GRCm39)		probably benign	Het
Cep85	A	G	4: 133,894,711 (GRCm39)	W32R	probably damaging	Het
Col5a3	A	G	9: 20,719,714 (GRCm39)	F215S	unknown	Het
Decr1	T	C	4: 15,919,207 (GRCm39)	N312S	possibly damaging	Het
Diaph3	A	T	14: 87,244,835 (GRCm39)	W178R	probably damaging	Het
Dync2h1	A	G	9: 7,075,752 (GRCm39)		probably benign	Het
Ehd3	C	A	17: 74,135,181 (GRCm39)	D352E	probably damaging	Het
Enpp6	T	G	8: 47,518,535 (GRCm39)	I221S	probably benign	Het
Fam186a	T	C	15: 99,837,670 (GRCm39)		probably benign	Het
Gm5435	G	T	12: 82,542,558 (GRCm39)		noncoding transcript	Het
Gpr22	A	C	12: 31,759,513 (GRCm39)	I203S	probably benign	Het
Gpr61	A	G	3: 108,057,797 (GRCm39)	V288A	possibly damaging	Het
Grik3	G	A	4: 125,598,357 (GRCm39)		probably benign	Het
Gstcd	T	C	3: 132,711,389 (GRCm39)	N431D	probably damaging	Het
H1f5	T	C	13: 21,964,169 (GRCm39)	S186G	probably benign	Het
Haao	T	A	17: 84,146,267 (GRCm39)	Q69L	probably benign	Het
Ift140	G	T	17: 25,307,907 (GRCm39)		probably null	Het
Ikbke	A	G	1: 131,197,963 (GRCm39)	V381A	probably benign	Het
Ing1	A	C	8: 11,611,501 (GRCm39)	I38L	probably benign	Het
Ing1	T	A	8: 11,611,502 (GRCm39)	I38N	probably damaging	Het
Itga4	A	G	2: 79,153,033 (GRCm39)	M907V	possibly damaging	Het
Kcnk12	C	T	17: 88,053,801 (GRCm39)	G287D	probably damaging	Het
Kmt2e	A	C	5: 23,707,402 (GRCm39)	H1655P	probably damaging	Het
Mbtd1	A	G	11: 93,801,185 (GRCm39)	Y122C	probably damaging	Het
Mif-ps9	T	A	19: 56,743,766 (GRCm39)		noncoding transcript	Het
Mslnl	T	C	17: 25,962,214 (GRCm39)	L204P	probably damaging	Het
Muc6	T	C	7: 141,238,144 (GRCm39)	E112G	probably benign	Het
Nav3	T	A	10: 109,527,963 (GRCm39)	D2240V	probably damaging	Het
Ndufaf3	T	C	9: 108,443,892 (GRCm39)	T9A	probably damaging	Het
Numb	C	A	12: 83,842,935 (GRCm39)		probably benign	Het
Prodh2	T	C	7: 30,193,514 (GRCm39)	V79A	probably damaging	Het
Psmb2	A	G	4: 126,580,825 (GRCm39)	Y73C	probably damaging	Het
Rmnd5a	G	A	6: 71,375,439 (GRCm39)	L80F	probably benign	Het
Rnf19a	G	T	15: 36,244,247 (GRCm39)	Y604*	probably null	Het
Ros1	T	A	10: 51,964,028 (GRCm39)	E1744V	possibly damaging	Het
Rpusd2	T	C	2: 118,867,408 (GRCm39)	F219L	probably benign	Het
Sall2	T	C	14: 52,551,182 (GRCm39)	N671S	probably damaging	Het
Sele	T	A	1: 163,878,379 (GRCm39)	S239R	probably damaging	Het
Serpina3b	T	C	12: 104,097,138 (GRCm39)	F140L	probably damaging	Het
Stxbp1	A	T	2: 32,684,648 (GRCm39)	S594T	probably benign	Het
Sufu	G	A	19: 46,443,159 (GRCm39)		probably benign	Het
Tbx2	A	G	11: 85,725,592 (GRCm39)	E181G	probably damaging	Het
Thumpd2	A	G	17: 81,363,317 (GRCm39)	V50A	probably damaging	Het
Tlcd4	A	G	3: 121,000,940 (GRCm39)	V231A	probably benign	Het
Ttn	C	A	2: 76,573,589 (GRCm39)	R17441L	probably damaging	Het
Usp34	A	G	11: 23,334,477 (GRCm39)	Y1157C	probably damaging	Het
Vmn1r9	T	C	6: 57,048,522 (GRCm39)	V199A	probably damaging	Het
Vmn2r6	A	G	3: 64,445,694 (GRCm39)	F677S	probably damaging	Het
Vmn2r84	C	T	10: 130,225,008 (GRCm39)	A501T	probably benign	Het
Wapl	C	T	14: 34,446,726 (GRCm39)	P605S	probably damaging	Het
Zfp598	A	G	17: 24,898,623 (GRCm39)	N474S	probably benign	Het
Zfyve26	A	G	12: 79,321,694 (GRCm39)	L975P	probably damaging	Het
Zp3r	C	T	1: 130,519,181 (GRCm39)	G255D	probably damaging	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
IGL02547:Akap6	APN	12	53,187,479 (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
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

Predicted Primers

PCR Primer
(F):5'- TGAGGAAGATGGCGCTCTTGAAC -3'
(R):5'- GGCAGTCAGTAAGCCTTCCCAAAC -3'

Sequencing Primer
(F):5'- GTCCTTGTGAAATGATGACTCC -3'
(R):5'- CCACCTTGTGCAAACACTCA -3'

Posted On

2014-02-18