Mutagenetix > Incidental Mutation

Incidental Mutation 'R7817:Akap13'

601594

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

045871-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7817 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75105282-75404357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75380213 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 462 (R462H)

Ref Sequence

ENSEMBL: ENSMUSP00000146401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166315] [ENSMUST00000207239] [ENSMUST00000207750]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000166315
AA Change: R2163H

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

SMART Domains

Protein: ENSMUSP00000129784
Gene: ENSMUSG00000066406
AA Change: R2163H

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: ENSMUST00000207239
AA Change: R462H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207750
AA Change: R2181H

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

Meta Mutation Damage Score

0.2115

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (45/47)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,559,224 (GRCm39)	V338A	probably damaging	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bivm	G	T	1: 44,165,561 (GRCm39)	A4S	probably benign	Het
Cacng3	G	A	7: 122,367,822 (GRCm39)	R234Q	probably damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Cftr	A	G	6: 18,267,967 (GRCm39)	D642G	probably damaging	Het
Cltc	A	G	11: 86,615,949 (GRCm39)	V443A	probably damaging	Het
Csmd3	C	T	15: 47,721,356 (GRCm39)	R1425H	probably damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Dscam	T	C	16: 96,442,064 (GRCm39)	T1588A	probably benign	Het
Gabra4	A	G	5: 71,798,206 (GRCm39)	M207T	probably damaging	Het
Galnt3	A	G	2: 65,926,243 (GRCm39)	Y322H	probably damaging	Het
Glud1	A	T	14: 34,051,244 (GRCm39)		probably null	Het
Gm47189	A	G	14: 41,492,011 (GRCm39)	Y89H	probably damaging	Het
Klhl1	A	T	14: 96,374,186 (GRCm39)	M620K	possibly damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mocs2	A	G	13: 114,957,382 (GRCm39)	E62G	probably damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Nek10	C	T	14: 15,001,017 (GRCm38)	P1066S	probably benign	Het
Nfxl1	T	C	5: 72,671,632 (GRCm39)	K876E	possibly damaging	Het
Nipsnap3a	T	A	4: 52,997,279 (GRCm39)	F182I	probably damaging	Het
Nlrc3	C	T	16: 3,783,327 (GRCm39)	G60S	possibly damaging	Het
Notch2	T	C	3: 98,014,443 (GRCm39)	Y666H	probably damaging	Het
Or9m1b	T	C	2: 87,836,355 (GRCm39)	I247V	probably benign	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Pcdhb11	A	G	18: 37,556,962 (GRCm39)	E764G	probably damaging	Het
Pcdhb3	T	A	18: 37,435,982 (GRCm39)	D649E	probably benign	Het
Pde7b	T	G	10: 20,319,051 (GRCm39)	R90S	probably damaging	Het
Pik3r5	T	C	11: 68,384,483 (GRCm39)	V625A	probably damaging	Het
Prdm9	G	A	17: 15,779,311 (GRCm39)	R113W	probably damaging	Het
Psg26	A	G	7: 18,216,572 (GRCm39)	V89A	not run	Het
Rad1	T	C	15: 10,493,404 (GRCm39)	V277A	probably benign	Het
Rb1	A	T	14: 73,435,983 (GRCm39)	L894Q	probably damaging	Het
Rorb	A	T	19: 18,965,460 (GRCm39)	C10S	probably damaging	Het
Ryk	C	T	9: 102,768,432 (GRCm39)	Q361*	probably null	Het
Serpina3b	A	G	12: 104,099,223 (GRCm39)	N246S	probably benign	Het
Srr	A	G	11: 74,799,524 (GRCm39)	V317A	possibly damaging	Het
Timd2	A	T	11: 46,561,781 (GRCm39)	C288S	probably benign	Het
Tomm70a	C	T	16: 56,965,136 (GRCm39)	A440V	probably damaging	Het
Trim62	T	C	4: 128,794,478 (GRCm39)	V215A	probably benign	Het
Trio	C	G	15: 27,749,952 (GRCm39)	V2250L	probably benign	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Unc13d	A	T	11: 115,967,109 (GRCm39)	V91D	probably damaging	Het
Vmn1r159	T	A	7: 22,542,487 (GRCm39)	I182F	possibly damaging	Het
Vmn1r230	T	A	17: 21,066,823 (GRCm39)	V4D	probably benign	Het
Zfp27	T	C	7: 29,595,815 (GRCm39)	Y50C	possibly damaging	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp518b	T	C	5: 38,829,741 (GRCm39)	I755V	not run	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
R1387:Akap13	UTSW	7	75,235,941 (GRCm39)	missense	probably damaging	0.97
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
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'- TGACTTGGCTTGTTGACTCCAG -3'
(R):5'- GCTCAGACATGGATGCAGTC -3'

Sequencing Primer
(F):5'- TTGACTCCAGTGTGAAAGGGTAATC -3'
(R):5'- CAGACATGGATGCAGTCATACCTTTC -3'

Posted On

2019-12-03