Mutagenetix > Incidental Mutation

Incidental Mutation 'R1055:Akap6'

94296

Institutional Source

Beutler Lab

Gene Symbol

Akap6

Ensembl Gene

ENSMUSG00000061603

Gene Name

A kinase anchor protein 6

Synonyms

MMRRC Submission

039145-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.754) question?

Stock #

R1055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52746166-53202382 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 52927455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 122 (Q122*)

Ref Sequence

ENSEMBL: ENSMUSP00000151871 (fasta)

Gene Model

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

AlphaFold

E9Q9K8

Predicted Effect

probably null
Transcript: ENSMUST00000095737
AA Change: Q122*

SMART Domains

Protein: ENSMUSP00000093406
Gene: ENSMUSG00000061603
AA Change: Q122*

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 null
Transcript: ENSMUST00000219786
AA Change: Q122*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.3%
10x: 95.3%
20x: 87.5%

Validation Efficiency

100% (58/58)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	G	14: 64,210,724 (GRCm39)	V168A	possibly damaging	Het
A1cf	C	A	19: 31,909,919 (GRCm39)	T237N	probably benign	Het
Actl10	A	T	2: 154,394,588 (GRCm39)	Q180L	probably benign	Het
Adcy1	T	C	11: 7,059,075 (GRCm39)	L327P	probably damaging	Het
Adcy7	T	C	8: 89,044,685 (GRCm39)		probably benign	Het
Ahctf1	G	A	1: 179,591,051 (GRCm39)	T1243I	possibly damaging	Het
Apob	G	A	12: 8,044,963 (GRCm39)	G861D	probably damaging	Het
Arhgef11	A	C	3: 87,624,425 (GRCm39)	T539P	probably benign	Het
Cd244a	T	A	1: 171,404,844 (GRCm39)	V232E	probably damaging	Het
Chia1	A	C	3: 106,038,199 (GRCm39)	D365A	probably damaging	Het
Clpsl2	C	T	17: 28,768,500 (GRCm39)	Q5*	probably null	Het
Clrn1	T	A	3: 58,772,531 (GRCm39)	I117F	probably benign	Het
Csmd3	A	G	15: 47,744,933 (GRCm39)	L1354P	probably damaging	Het
Csn2	G	A	5: 87,842,596 (GRCm39)	P144S	possibly damaging	Het
Dcdc2a	T	A	13: 25,286,593 (GRCm39)	M172K	probably damaging	Het
Dnah9	A	T	11: 66,050,837 (GRCm39)	W152R	probably damaging	Het
Dnmt3a	T	A	12: 3,922,864 (GRCm39)	S82T	probably benign	Het
Ebf1	A	G	11: 44,523,602 (GRCm39)	K146E	probably damaging	Het
Gfpt2	A	C	11: 49,718,038 (GRCm39)	R504S	probably damaging	Het
Gpank1	T	A	17: 35,343,284 (GRCm39)	S255T	probably damaging	Het
Greb1	T	C	12: 16,732,252 (GRCm39)	M1570V	probably damaging	Het
Gtf2i	A	T	5: 134,292,478 (GRCm39)	I403K	probably damaging	Het
Hoxc11	T	A	15: 102,863,270 (GRCm39)	C104S	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ilrun	T	C	17: 27,986,910 (GRCm39)	N272S	probably damaging	Het
Khdrbs2	A	T	1: 32,683,238 (GRCm39)		probably benign	Het
Lix1l	G	T	3: 96,528,626 (GRCm39)	G200V	probably damaging	Het
Lrrc23	T	C	6: 124,755,114 (GRCm39)	N141S	probably damaging	Het
Marchf11	A	T	15: 26,309,748 (GRCm39)	D134V	probably damaging	Het
Myo9a	A	T	9: 59,762,653 (GRCm39)	T795S	probably benign	Het
Nhsl1	T	A	10: 18,401,223 (GRCm39)	D782E	probably benign	Het
Nptxr	T	C	15: 79,674,456 (GRCm39)		probably benign	Het
Nrp1	A	G	8: 129,195,079 (GRCm39)	M512V	possibly damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Or12e7	ATTGCTACTC	A	2: 87,287,781 (GRCm39)		probably benign	Het
Or5b3	G	A	19: 13,388,754 (GRCm39)	A274T	probably benign	Het
Pard3	T	C	8: 128,104,761 (GRCm39)	F267S	probably benign	Het
Pomt2	G	A	12: 87,194,254 (GRCm39)	T50M	possibly damaging	Het
Qsox2	A	G	2: 26,104,137 (GRCm39)	Y298H	probably damaging	Het
Rabgap1	A	G	2: 37,382,080 (GRCm39)	K450E	possibly damaging	Het
Rpa1	A	T	11: 75,193,558 (GRCm39)	V591D	probably damaging	Het
Sall3	A	C	18: 81,013,007 (GRCm39)	M1143R	probably benign	Het
Scgb1b19	G	T	7: 32,986,768 (GRCm39)	A13S	unknown	Het
Scn1a	T	C	2: 66,168,340 (GRCm39)	T89A	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sdr42e1	T	G	8: 118,390,323 (GRCm39)	N106T	probably damaging	Het
Shpk	A	T	11: 73,105,945 (GRCm39)	M266L	probably benign	Het
Slc34a1	G	T	13: 55,550,846 (GRCm39)	R139L	probably benign	Het
Smbd1	C	A	16: 32,627,088 (GRCm39)	D67Y	probably damaging	Het
Srd5a3	A	G	5: 76,301,485 (GRCm39)	N238S	probably benign	Het
Tmprss2	T	C	16: 97,377,462 (GRCm39)	N212D	probably damaging	Het
Uap1	G	T	1: 169,984,480 (GRCm39)		probably benign	Het
Ugt1a6a	A	G	1: 88,066,736 (GRCm39)	M181V	probably benign	Het
Vmn2r32	C	T	7: 7,477,326 (GRCm39)	W355*	probably null	Het
Vmn2r86	T	A	10: 130,282,226 (GRCm39)	S797C	probably damaging	Het
Wiz	A	G	17: 32,606,616 (GRCm39)	S40P	probably damaging	Het
Zfand6	A	G	7: 84,265,181 (GRCm39)		probably benign	Het
Zfp280d	G	A	9: 72,236,449 (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
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
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

Predicted Primers

PCR Primer
(F):5'- TTACCGCTGTCAGATAGAGCAGCC -3'
(R):5'- TGCTTGCAGAATGTCAGTCTGCC -3'

Sequencing Primer
(F):5'- TTCAGGACTATGGCTGCAAC -3'
(R):5'- CTGCCTGGTGTAGTTGCC -3'

Posted On

2014-01-05