Mutagenetix > Incidental Mutation

Incidental Mutation 'R1387:Akap13'

162427

Institutional Source

Beutler Lab

Gene Symbol

Akap13

Ensembl Gene

ENSMUSG00000066406

Gene Name

A kinase anchor protein 13

Synonyms

PROTO-LB, Ht31, 5830460E08Rik, 5730522G15Rik, 1700026G02Rik, PROTO-LBC, AKAP-Lbc

MMRRC Submission

039449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1387 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

75105282-75404357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75235941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 172 (V172A)

Ref Sequence

ENSEMBL: ENSMUSP00000147237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166315] [ENSMUST00000207750]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000147005
AA Change: V172A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000117686
Gene: ENSMUSG00000066406
AA Change: V172A

Domain	Start	End	E-Value	Type
low complexity region	174	184	N/A	INTRINSIC
internal_repeat_1	485	695	4.85e-5	PROSPERO
low complexity region	773	789	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
low complexity region	1021	1032	N/A	INTRINSIC
Pfam:RII_binding_1	1218	1235	4.3e-6	PFAM
low complexity region	1429	1444	N/A	INTRINSIC
low complexity region	1479	1501	N/A	INTRINSIC
low complexity region	1601	1612	N/A	INTRINSIC
low complexity region	1738	1768	N/A	INTRINSIC
C1	1773	1819	1.95e-4	SMART
low complexity region	1876	1887	N/A	INTRINSIC
RhoGEF	1979	2171	1.28e-61	SMART
PH	2213	2316	2.94e-11	SMART
coiled coil region	2326	2363	N/A	INTRINSIC
low complexity region	2411	2430	N/A	INTRINSIC
low complexity region	2462	2472	N/A	INTRINSIC
coiled coil region	2551	2664	N/A	INTRINSIC
low complexity region	2746	2752	N/A	INTRINSIC
low complexity region	2758	2771	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166315
AA Change: V172A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129784
Gene: ENSMUSG00000066406
AA Change: V172A

Domain	Start	End	E-Value	Type
low complexity region	174	184	N/A	INTRINSIC
low complexity region	773	789	N/A	INTRINSIC
low complexity region	896	908	N/A	INTRINSIC
low complexity region	1021	1032	N/A	INTRINSIC
low complexity region	1433	1448	N/A	INTRINSIC
low complexity region	1483	1505	N/A	INTRINSIC
low complexity region	1583	1594	N/A	INTRINSIC
low complexity region	1720	1750	N/A	INTRINSIC
C1	1755	1801	1.95e-4	SMART
low complexity region	1858	1869	N/A	INTRINSIC
RhoGEF	1961	2153	1.28e-61	SMART
PH	2195	2298	2.94e-11	SMART
coiled coil region	2308	2345	N/A	INTRINSIC
low complexity region	2393	2412	N/A	INTRINSIC
low complexity region	2444	2454	N/A	INTRINSIC
coiled coil region	2533	2646	N/A	INTRINSIC
low complexity region	2728	2734	N/A	INTRINSIC
low complexity region	2740	2753	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207750
AA Change: V172A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208187

Meta Mutation Damage Score

0.0771

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.4%

Validation Efficiency

99% (82/83)

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. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality during organogenesis, arrested heart development, and forebrain hypoplasia. Heterozygous mice exhibit small spleen, impaired lymphocyte response to osmotic stress, decreased response to glucocorticoid, osteoporosis and impared osteogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	T	A	9: 98,068,812 (GRCm39)		noncoding transcript	Het
4930447C04Rik	C	A	12: 72,962,208 (GRCm39)	R52L	probably benign	Het
Abca13	C	T	11: 9,632,085 (GRCm39)	Q5002*	probably null	Het
Acacb	T	C	5: 114,338,573 (GRCm39)	I761T	probably benign	Het
Acap3	G	T	4: 155,983,937 (GRCm39)	L134F	probably benign	Het
Adamtsl1	T	C	4: 86,293,230 (GRCm39)		probably benign	Het
Adgrv1	A	G	13: 81,641,295 (GRCm39)	V3278A	possibly damaging	Het
Agxt2	T	C	15: 10,380,696 (GRCm39)	Y196H	probably damaging	Het
Aqp8	A	G	7: 123,065,891 (GRCm39)	I229V	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Brd10	A	G	19: 29,700,853 (GRCm39)	I812T	probably benign	Het
Cacng8	T	C	7: 3,463,672 (GRCm39)	S275P	possibly damaging	Het
Catsperg1	T	C	7: 28,906,289 (GRCm39)	Y138C	probably damaging	Het
Ccdc93	T	G	1: 121,418,918 (GRCm39)	L491R	probably damaging	Het
Cntnap2	T	C	6: 47,084,848 (GRCm39)	V1103A	probably benign	Het
Col12a1	C	T	9: 79,588,657 (GRCm39)		probably benign	Het
Col6a3	A	G	1: 90,750,138 (GRCm39)		probably benign	Het
Csf2rb2	C	T	15: 78,182,414 (GRCm39)	A6T	probably damaging	Het
Cyp2j5	T	A	4: 96,522,522 (GRCm39)	S351C	probably damaging	Het
Cyth1	A	G	11: 118,073,172 (GRCm39)		probably benign	Het
Dock2	A	G	11: 34,223,309 (GRCm39)		probably benign	Het
Duoxa1	T	A	2: 122,134,468 (GRCm39)	I262F	possibly damaging	Het
Dync2h1	T	C	9: 7,125,816 (GRCm39)	D1930G	probably benign	Het
Eeig1	T	C	2: 32,455,635 (GRCm39)	S254P	possibly damaging	Het
Eno1	C	T	4: 150,332,590 (GRCm39)		probably benign	Het
Fam98a	T	A	17: 75,845,264 (GRCm39)	H494L	unknown	Het
Fcamr	C	A	1: 130,732,379 (GRCm39)	T122K	possibly damaging	Het
Foxq1	A	G	13: 31,743,288 (GRCm39)	D130G	probably damaging	Het
Glb1	T	A	9: 114,249,431 (GRCm39)	W5R	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gm5431	T	A	11: 48,785,842 (GRCm39)	R178W	possibly damaging	Het
Gys2	C	T	6: 142,407,009 (GRCm39)	V116M	probably benign	Het
Hif1a	C	T	12: 73,989,066 (GRCm39)	T651I	possibly damaging	Het
Itgb5	T	A	16: 33,720,885 (GRCm39)	Y3*	probably null	Het
Kank3	A	G	17: 34,035,205 (GRCm39)	N7S	possibly damaging	Het
Kdm2b	G	T	5: 123,018,331 (GRCm39)	H981Q	probably damaging	Het
Kdm6a	C	T	X: 18,120,235 (GRCm39)		probably benign	Het
Kif1a	A	T	1: 92,983,672 (GRCm39)		probably benign	Het
Knl1	T	A	2: 118,901,211 (GRCm39)	S971T	possibly damaging	Het
Lcn6	T	C	2: 25,567,149 (GRCm39)	V50A	possibly damaging	Het
Llgl2	G	T	11: 115,743,958 (GRCm39)	V762F	probably damaging	Het
Lpcat4	T	C	2: 112,075,021 (GRCm39)	F342L	probably benign	Het
Lrp2	C	A	2: 69,287,262 (GRCm39)	G3725V	probably damaging	Het
Map1b	T	C	13: 99,569,158 (GRCm39)	T1188A	unknown	Het
Mecp2	G	A	X: 73,079,394 (GRCm39)	P362S	possibly damaging	Het
Mideas	C	A	12: 84,199,705 (GRCm39)	R1005L	probably damaging	Het
Mmp13	T	A	9: 7,282,033 (GRCm39)	F445Y	possibly damaging	Het
Myo5b	G	T	18: 74,777,272 (GRCm39)		probably benign	Het
Myo7b	A	G	18: 32,116,805 (GRCm39)		probably benign	Het
Nadk2	C	A	15: 9,106,870 (GRCm39)	L384I	possibly damaging	Het
Napg	A	G	18: 63,119,283 (GRCm39)	I98V	possibly damaging	Het
Ncoa1	G	T	12: 4,324,790 (GRCm39)	N1041K	probably benign	Het
Nmu	A	T	5: 76,497,992 (GRCm39)	C64*	probably null	Het
Nobox	T	A	6: 43,284,132 (GRCm39)	K13M	probably damaging	Het
Nos1	T	C	5: 118,091,848 (GRCm39)		probably benign	Het
Nrg2	A	G	18: 36,329,792 (GRCm39)	V141A	probably damaging	Het
Or1b1	T	G	2: 36,994,880 (GRCm39)	I261L	probably benign	Het
Or2aj5	T	C	16: 19,424,777 (GRCm39)	I214V	probably damaging	Het
Or55b4	T	A	7: 102,133,911 (GRCm39)	I139L	probably benign	Het
Phldb2	C	T	16: 45,646,357 (GRCm39)	E71K	possibly damaging	Het
Pik3r4	T	A	9: 105,521,490 (GRCm39)	Y19N	probably damaging	Het
Pkhd1	A	C	1: 20,625,447 (GRCm39)		probably benign	Het
Pogk	G	T	1: 166,227,707 (GRCm39)	P148Q	possibly damaging	Het
Pten	G	T	19: 32,775,496 (GRCm39)	A79S	probably benign	Het
Ptpdc1	A	T	13: 48,739,796 (GRCm39)	V545E	possibly damaging	Het
Qdpr	G	C	5: 45,607,480 (GRCm39)		probably benign	Het
Rhbdd3	T	A	11: 5,054,121 (GRCm39)	H83Q	probably damaging	Het
Rnf6	A	G	5: 146,148,055 (GRCm39)	V321A	probably benign	Het
Rtf1	T	A	2: 119,536,126 (GRCm39)		probably null	Het
Serpina10	C	T	12: 103,594,500 (GRCm39)	V240I	probably benign	Het
Siah2	A	G	3: 58,598,935 (GRCm39)	V101A	possibly damaging	Het
Taok3	A	G	5: 117,344,720 (GRCm39)	K46R	probably damaging	Het
Tcaf2	A	C	6: 42,601,512 (GRCm39)	L849R	probably damaging	Het
Upf3a	T	C	8: 13,842,118 (GRCm39)	F178S	probably damaging	Het
Vmn1r218	G	A	13: 23,321,478 (GRCm39)	G195D	probably damaging	Het
Vmn2r59	A	G	7: 41,695,521 (GRCm39)	V297A	probably damaging	Het
Vmn2r70	T	A	7: 85,207,969 (GRCm39)	Q836L	probably benign	Het
Zfp473	A	G	7: 44,382,365 (GRCm39)	V655A	probably benign	Het
Zic5	A	G	14: 122,696,897 (GRCm39)	S573P	unknown	Het

Other mutations in Akap13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00161:Akap13	APN	7	75,375,719 (GRCm39)	missense	probably damaging	0.99
IGL00332:Akap13	APN	7	75,378,667 (GRCm39)	missense	probably damaging	1.00
IGL00481:Akap13	APN	7	75,373,643 (GRCm39)	missense	probably damaging	1.00
IGL00590:Akap13	APN	7	75,260,417 (GRCm39)	missense	probably benign	0.01
IGL00655:Akap13	APN	7	75,354,146 (GRCm39)	missense	probably damaging	0.99
IGL00766:Akap13	APN	7	75,354,260 (GRCm39)	missense	probably damaging	0.96
IGL00818:Akap13	APN	7	75,259,475 (GRCm39)	missense	probably benign	0.00
IGL00826:Akap13	APN	7	75,327,195 (GRCm39)	missense	probably damaging	1.00
IGL01014:Akap13	APN	7	75,400,381 (GRCm39)	utr 3 prime	probably benign
IGL01090:Akap13	APN	7	75,316,279 (GRCm39)	missense	probably benign	0.44
IGL01155:Akap13	APN	7	75,219,684 (GRCm39)	missense	probably damaging	1.00
IGL01326:Akap13	APN	7	75,375,096 (GRCm39)	missense	probably benign	0.30
IGL01456:Akap13	APN	7	75,252,595 (GRCm39)	missense	probably damaging	0.98
IGL01460:Akap13	APN	7	75,397,594 (GRCm39)	missense	probably benign	0.29
IGL01568:Akap13	APN	7	75,258,270 (GRCm39)	nonsense	probably null	0.00
IGL01610:Akap13	APN	7	75,397,353 (GRCm39)	missense	probably damaging	1.00
IGL01610:Akap13	APN	7	75,369,928 (GRCm39)	missense	possibly damaging	0.71
IGL01615:Akap13	APN	7	75,347,141 (GRCm39)	missense	probably damaging	1.00
IGL01667:Akap13	APN	7	75,219,767 (GRCm39)	missense	probably damaging	1.00
IGL01705:Akap13	APN	7	75,396,515 (GRCm39)	missense	possibly damaging	0.86
IGL02070:Akap13	APN	7	75,316,293 (GRCm39)	missense	probably benign	0.27
IGL02269:Akap13	APN	7	75,252,659 (GRCm39)	missense	probably benign
IGL02421:Akap13	APN	7	75,367,554 (GRCm39)	missense	possibly damaging	0.66
IGL02870:Akap13	APN	7	75,258,936 (GRCm39)	missense	probably damaging	0.96
IGL02944:Akap13	APN	7	75,258,405 (GRCm39)	missense	probably benign
IGL03051:Akap13	APN	7	75,260,233 (GRCm39)	nonsense	probably null
IGL03160:Akap13	APN	7	75,380,165 (GRCm39)	missense	probably damaging	1.00
IGL03245:Akap13	APN	7	75,259,500 (GRCm39)	missense	probably damaging	0.99
R0254:Akap13	UTSW	7	75,386,352 (GRCm39)	splice site	probably benign
R0310:Akap13	UTSW	7	75,264,678 (GRCm39)	missense	probably damaging	0.99
R0373:Akap13	UTSW	7	75,380,248 (GRCm39)	missense	probably damaging	1.00
R0373:Akap13	UTSW	7	75,259,677 (GRCm39)	missense	probably benign	0.00
R0408:Akap13	UTSW	7	75,396,544 (GRCm39)	missense	probably damaging	1.00
R0631:Akap13	UTSW	7	75,264,744 (GRCm39)	missense	probably damaging	0.99
R0646:Akap13	UTSW	7	75,397,494 (GRCm39)	missense	probably damaging	1.00
R0781:Akap13	UTSW	7	75,261,125 (GRCm39)	missense	possibly damaging	0.56
R0845:Akap13	UTSW	7	75,375,128 (GRCm39)	missense	probably damaging	1.00
R1004:Akap13	UTSW	7	75,337,034 (GRCm39)	missense	probably damaging	0.99
R1024:Akap13	UTSW	7	75,327,157 (GRCm39)	missense	probably damaging	1.00
R1110:Akap13	UTSW	7	75,261,125 (GRCm39)	missense	possibly damaging	0.56
R1346:Akap13	UTSW	7	75,259,340 (GRCm39)	missense	possibly damaging	0.67
R1349:Akap13	UTSW	7	75,259,340 (GRCm39)	missense	possibly damaging	0.67
R1372:Akap13	UTSW	7	75,259,340 (GRCm39)	missense	possibly damaging	0.67
R1442:Akap13	UTSW	7	75,385,526 (GRCm39)	missense	probably damaging	0.99
R1466:Akap13	UTSW	7	75,378,797 (GRCm39)	missense	possibly damaging	0.79
R1466:Akap13	UTSW	7	75,378,797 (GRCm39)	missense	possibly damaging	0.79
R1584:Akap13	UTSW	7	75,378,797 (GRCm39)	missense	possibly damaging	0.79
R1696:Akap13	UTSW	7	75,259,340 (GRCm39)	missense	possibly damaging	0.67
R1738:Akap13	UTSW	7	75,326,942 (GRCm39)	missense	probably damaging	1.00
R1773:Akap13	UTSW	7	75,333,199 (GRCm39)	missense	possibly damaging	0.80
R1785:Akap13	UTSW	7	75,261,182 (GRCm39)	missense	probably benign	0.16
R1786:Akap13	UTSW	7	75,261,182 (GRCm39)	missense	probably benign	0.16
R1791:Akap13	UTSW	7	75,260,783 (GRCm39)	missense	probably benign	0.00
R1819:Akap13	UTSW	7	75,258,453 (GRCm39)	missense	probably benign	0.04
R1879:Akap13	UTSW	7	75,260,475 (GRCm39)	missense	probably benign	0.01
R1989:Akap13	UTSW	7	75,354,264 (GRCm39)	missense	probably benign	0.01
R2016:Akap13	UTSW	7	75,354,279 (GRCm39)	missense	probably damaging	0.99
R2092:Akap13	UTSW	7	75,260,318 (GRCm39)	missense	probably benign	0.05
R2126:Akap13	UTSW	7	75,375,052 (GRCm39)	missense	possibly damaging	0.95
R2131:Akap13	UTSW	7	75,261,182 (GRCm39)	missense	probably benign	0.16
R2132:Akap13	UTSW	7	75,261,182 (GRCm39)	missense	probably benign	0.16
R2133:Akap13	UTSW	7	75,261,182 (GRCm39)	missense	probably benign	0.16
R2251:Akap13	UTSW	7	75,389,225 (GRCm39)	missense	possibly damaging	0.50
R3704:Akap13	UTSW	7	75,316,298 (GRCm39)	missense	probably damaging	1.00
R3713:Akap13	UTSW	7	75,235,929 (GRCm39)	missense	probably damaging	0.98
R3731:Akap13	UTSW	7	75,261,125 (GRCm39)	missense	probably benign	0.39
R3765:Akap13	UTSW	7	75,258,585 (GRCm39)	missense	probably benign	0.04
R3788:Akap13	UTSW	7	75,351,901 (GRCm39)	critical splice donor site	probably null
R3793:Akap13	UTSW	7	75,259,889 (GRCm39)	missense	probably benign	0.00
R3970:Akap13	UTSW	7	75,219,699 (GRCm39)	nonsense	probably null
R4205:Akap13	UTSW	7	75,260,667 (GRCm39)	missense	probably benign	0.05
R4257:Akap13	UTSW	7	75,261,033 (GRCm39)	missense	probably damaging	0.98
R4374:Akap13	UTSW	7	75,258,732 (GRCm39)	missense	probably damaging	0.96
R4448:Akap13	UTSW	7	75,392,508 (GRCm39)	missense	probably damaging	1.00
R4450:Akap13	UTSW	7	75,392,508 (GRCm39)	missense	probably damaging	1.00
R4457:Akap13	UTSW	7	75,389,213 (GRCm39)	missense	probably damaging	0.99
R4458:Akap13	UTSW	7	75,389,213 (GRCm39)	missense	probably damaging	0.99
R4466:Akap13	UTSW	7	75,252,521 (GRCm39)	splice site	probably null
R4632:Akap13	UTSW	7	75,316,301 (GRCm39)	missense	possibly damaging	0.91
R4667:Akap13	UTSW	7	75,378,842 (GRCm39)	missense	probably damaging	1.00
R4669:Akap13	UTSW	7	75,378,842 (GRCm39)	missense	probably damaging	1.00
R4671:Akap13	UTSW	7	75,229,312 (GRCm39)	nonsense	probably null
R4821:Akap13	UTSW	7	75,327,255 (GRCm39)	intron	probably benign
R4868:Akap13	UTSW	7	75,393,252 (GRCm39)	missense	probably damaging	1.00
R4894:Akap13	UTSW	7	75,375,068 (GRCm39)	missense	possibly damaging	0.76
R4943:Akap13	UTSW	7	75,398,988 (GRCm39)	missense	probably benign	0.22
R4962:Akap13	UTSW	7	75,399,178 (GRCm39)	missense	probably damaging	0.98
R4988:Akap13	UTSW	7	75,380,276 (GRCm39)	missense	probably damaging	1.00
R5119:Akap13	UTSW	7	75,337,000 (GRCm39)	missense	probably damaging	0.98
R5141:Akap13	UTSW	7	75,259,362 (GRCm39)	missense	probably benign	0.18
R5419:Akap13	UTSW	7	75,259,991 (GRCm39)	missense	probably benign	0.01
R5427:Akap13	UTSW	7	75,378,617 (GRCm39)	missense	possibly damaging	0.89
R5429:Akap13	UTSW	7	75,252,652 (GRCm39)	missense	possibly damaging	0.70
R5432:Akap13	UTSW	7	75,252,578 (GRCm39)	missense	probably damaging	1.00
R5458:Akap13	UTSW	7	75,236,049 (GRCm39)	missense	probably damaging	1.00
R5636:Akap13	UTSW	7	75,354,120 (GRCm39)	missense	probably damaging	0.96
R5643:Akap13	UTSW	7	75,351,902 (GRCm39)	critical splice donor site	probably null
R5898:Akap13	UTSW	7	75,378,894 (GRCm39)	missense	probably damaging	1.00
R5932:Akap13	UTSW	7	75,259,932 (GRCm39)	missense	probably damaging	1.00
R6135:Akap13	UTSW	7	75,259,656 (GRCm39)	missense	possibly damaging	0.94
R6137:Akap13	UTSW	7	75,327,164 (GRCm39)	missense	probably damaging	1.00
R6182:Akap13	UTSW	7	75,236,028 (GRCm39)	missense	probably benign	0.45
R6310:Akap13	UTSW	7	75,398,941 (GRCm39)	missense	probably damaging	0.99
R6346:Akap13	UTSW	7	75,335,002 (GRCm39)	missense	probably damaging	1.00
R6466:Akap13	UTSW	7	75,376,792 (GRCm39)	missense	probably benign	0.01
R6605:Akap13	UTSW	7	75,229,516 (GRCm39)	missense	probably damaging	0.98
R6617:Akap13	UTSW	7	75,380,111 (GRCm39)	missense	possibly damaging	0.95
R6621:Akap13	UTSW	7	75,219,729 (GRCm39)	missense	probably damaging	1.00
R6703:Akap13	UTSW	7	75,252,646 (GRCm39)	missense	probably damaging	1.00
R6750:Akap13	UTSW	7	75,389,206 (GRCm39)	missense	probably benign	0.03
R7069:Akap13	UTSW	7	75,260,010 (GRCm39)	missense	probably benign	0.29
R7116:Akap13	UTSW	7	75,369,943 (GRCm39)	missense	probably benign	0.00
R7158:Akap13	UTSW	7	75,229,342 (GRCm39)	missense	probably damaging	0.97
R7159:Akap13	UTSW	7	75,380,327 (GRCm39)	missense	possibly damaging	0.72
R7467:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R7468:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R7471:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R7472:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R7477:Akap13	UTSW	7	75,398,995 (GRCm39)	missense	probably benign
R7636:Akap13	UTSW	7	75,259,621 (GRCm39)	missense	probably benign	0.04
R7650:Akap13	UTSW	7	75,293,202 (GRCm39)	missense	probably benign	0.20
R7671:Akap13	UTSW	7	75,219,648 (GRCm39)	missense	probably damaging	1.00
R7681:Akap13	UTSW	7	75,378,544 (GRCm39)	missense	possibly damaging	0.91
R7752:Akap13	UTSW	7	75,327,006 (GRCm39)	missense	possibly damaging	0.74
R7784:Akap13	UTSW	7	75,260,076 (GRCm39)	missense	probably benign	0.00
R7816:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R7817:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R7834:Akap13	UTSW	7	75,392,390 (GRCm39)	missense	possibly damaging	0.85
R7880:Akap13	UTSW	7	75,235,964 (GRCm39)	missense	probably damaging	0.97
R7942:Akap13	UTSW	7	75,261,218 (GRCm39)	missense	possibly damaging	0.50
R8006:Akap13	UTSW	7	75,229,444 (GRCm39)	missense	probably damaging	1.00
R8009:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8011:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8012:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8013:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8016:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8089:Akap13	UTSW	7	75,260,340 (GRCm39)	missense	possibly damaging	0.94
R8138:Akap13	UTSW	7	75,351,979 (GRCm39)	splice site	probably null
R8174:Akap13	UTSW	7	75,378,617 (GRCm39)	missense	possibly damaging	0.89
R8298:Akap13	UTSW	7	75,397,552 (GRCm39)	missense	probably damaging	1.00
R8444:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8445:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8465:Akap13	UTSW	7	75,376,786 (GRCm39)	missense	probably benign	0.11
R8512:Akap13	UTSW	7	75,260,834 (GRCm39)	missense	probably damaging	0.99
R8523:Akap13	UTSW	7	75,380,213 (GRCm39)	missense	probably damaging	1.00
R8793:Akap13	UTSW	7	75,375,076 (GRCm39)	missense	probably benign	0.35
R8907:Akap13	UTSW	7	75,260,456 (GRCm39)	missense	probably damaging	0.99
R8907:Akap13	UTSW	7	75,260,444 (GRCm39)	missense	probably benign	0.08
R8928:Akap13	UTSW	7	75,259,606 (GRCm39)	missense	probably benign	0.00
R8929:Akap13	UTSW	7	75,258,752 (GRCm39)	missense	probably benign	0.00
R8937:Akap13	UTSW	7	75,184,601 (GRCm39)	critical splice donor site	probably null
R8967:Akap13	UTSW	7	75,378,882 (GRCm39)	missense	possibly damaging	0.80
R8986:Akap13	UTSW	7	75,259,074 (GRCm39)	missense	probably benign
R9152:Akap13	UTSW	7	75,261,033 (GRCm39)	missense	probably damaging	0.98
R9153:Akap13	UTSW	7	75,259,229 (GRCm39)	missense	probably benign	0.00
R9160:Akap13	UTSW	7	75,385,526 (GRCm39)	missense	possibly damaging	0.88
R9192:Akap13	UTSW	7	75,354,249 (GRCm39)	missense	probably benign	0.06
R9319:Akap13	UTSW	7	75,258,836 (GRCm39)	missense	probably benign	0.01
R9513:Akap13	UTSW	7	75,354,275 (GRCm39)	missense	probably benign	0.01
R9515:Akap13	UTSW	7	75,354,275 (GRCm39)	missense	probably benign	0.01
R9516:Akap13	UTSW	7	75,354,275 (GRCm39)	missense	probably benign	0.01
R9523:Akap13	UTSW	7	75,293,193 (GRCm39)	missense
R9564:Akap13	UTSW	7	75,259,161 (GRCm39)	missense	probably benign
R9621:Akap13	UTSW	7	75,386,090 (GRCm39)	missense	probably benign	0.09
R9686:Akap13	UTSW	7	75,236,084 (GRCm39)	missense	probably damaging	1.00
Z1176:Akap13	UTSW	7	75,380,300 (GRCm39)	missense	probably damaging	0.99
Z1177:Akap13	UTSW	7	75,264,753 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACGGTGCTAGATACTTGAAGGCAAC -3'
(R):5'- AGTGGTAACATGACTCACGCGG -3'

Sequencing Primer
(F):5'- AGGCAACAGTGTGTCTGC -3'
(R):5'- TCCTACAACGAAGCAGTTGG -3'

Posted On

2014-03-17