Mutagenetix > Incidental Mutation

Incidental Mutation 'R6750:Akap13'

530697

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

044867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6750 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75105282-75404357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75389206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 2375 (P2375S)

Ref Sequence

ENSEMBL: ENSMUSP00000147237 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000166315
AA Change: P2357S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129784
Gene: ENSMUSG00000066406
AA Change: P2357S

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 benign
Transcript: ENSMUST00000207239

Predicted Effect

probably benign
Transcript: ENSMUST00000207750
AA Change: P2375S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	T	2: 120,973,130 (GRCm39)	L62F	probably damaging	Het
Apob	T	A	12: 8,047,853 (GRCm39)	L931Q	probably damaging	Het
Arcn1	A	G	9: 44,661,691 (GRCm39)	V391A	possibly damaging	Het
Ccdc162	A	T	10: 41,437,222 (GRCm39)	I1729N	possibly damaging	Het
Cd24a	T	C	10: 43,458,721 (GRCm39)	L86P	unknown	Het
Cdcp3	T	A	7: 130,889,974 (GRCm39)		probably benign	Het
Churc1	C	A	12: 76,822,405 (GRCm39)	H71Q	probably damaging	Het
Clcn3	A	G	8: 61,367,809 (GRCm39)	L780P	possibly damaging	Het
Cldn17	C	T	16: 88,303,195 (GRCm39)	G178E	possibly damaging	Het
Cmah	A	G	13: 24,648,235 (GRCm39)	Y345C	probably damaging	Het
Cntnap5b	C	T	1: 100,202,224 (GRCm39)	S357L	probably damaging	Het
Col6a6	A	G	9: 105,660,879 (GRCm39)	I410T	probably damaging	Het
Crmp1	T	C	5: 37,422,666 (GRCm39)		probably null	Het
Csmd2	A	C	4: 128,091,018 (GRCm39)	N186H	possibly damaging	Het
Cyp1a1	A	T	9: 57,607,539 (GRCm39)	M56L	probably benign	Het
D2hgdh	G	C	1: 93,754,129 (GRCm39)	R56P	probably benign	Het
Dapk2	A	G	9: 66,128,034 (GRCm39)	E104G	probably damaging	Het
Dld	T	C	12: 31,382,213 (GRCm39)	N498S	probably benign	Het
Dyrk4	G	T	6: 126,875,918 (GRCm39)	Q106K	probably benign	Het
Eif2b4	T	C	5: 31,347,304 (GRCm39)	I333V	probably damaging	Het
F5	A	G	1: 164,021,076 (GRCm39)	T1184A	possibly damaging	Het
Fbxl6	C	T	15: 76,422,612 (GRCm39)	G102D	probably damaging	Het
Foxa1	C	T	12: 57,589,396 (GRCm39)	G275R	probably benign	Het
Fryl	A	G	5: 73,179,575 (GRCm39)	I2944T	probably damaging	Het
Gna15	T	C	10: 81,350,117 (GRCm39)	D95G	probably benign	Het
Greb1	T	A	12: 16,738,584 (GRCm39)	M1460L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Herc2	T	C	7: 55,747,195 (GRCm39)	I444T	probably damaging	Het
Ifngr1	T	A	10: 19,485,099 (GRCm39)	M366K	probably benign	Het
Krt27	C	T	11: 99,239,806 (GRCm39)	E253K	probably damaging	Het
Mical2	C	T	7: 111,981,046 (GRCm39)	T406I	probably damaging	Het
Mocs2	T	G	13: 114,962,784 (GRCm39)	D156E	probably damaging	Het
Mprip	A	T	11: 59,586,957 (GRCm39)	K43N	probably damaging	Het
Myo5b	A	T	18: 74,750,106 (GRCm39)	T190S	possibly damaging	Het
Naa25	C	T	5: 121,546,372 (GRCm39)	T86M	probably damaging	Het
Ncam1	T	C	9: 49,478,639 (GRCm39)	D163G	probably damaging	Het
Nlrp4f	A	T	13: 65,329,468 (GRCm39)	Y908*	probably null	Het
Nlrp9b	T	A	7: 19,757,159 (GRCm39)	L132*	probably null	Het
Nrg1	A	C	8: 32,308,124 (GRCm39)	S679A	probably damaging	Het
Or1j1	C	A	2: 36,702,954 (GRCm39)	R50M	possibly damaging	Het
Or52p1	C	T	7: 104,267,320 (GRCm39)	R145C	probably damaging	Het
Paqr9	A	T	9: 95,443,050 (GRCm39)	T347S	probably damaging	Het
Pcdhb21	T	C	18: 37,647,501 (GRCm39)	L210P	probably damaging	Het
Pdzd7	T	G	19: 45,016,187 (GRCm39)	D978A	probably benign	Het
Phf8-ps	A	T	17: 33,285,372 (GRCm39)	S477T	possibly damaging	Het
Pkd1l1	A	T	11: 8,923,217 (GRCm39)	S17T	unknown	Het
Plcz1	T	C	6: 139,974,164 (GRCm39)	K93E	possibly damaging	Het
Pom121l2	G	C	13: 22,166,107 (GRCm39)	R126P	probably damaging	Het
Prkg1	C	T	19: 31,741,961 (GRCm39)	E88K	probably benign	Het
Psme4	A	T	11: 30,803,203 (GRCm39)	D15V	probably damaging	Het
Ptprf	A	G	4: 118,088,928 (GRCm39)	V625A	probably benign	Het
Rab27a	G	A	9: 72,992,290 (GRCm39)	S106N	probably damaging	Het
Rasa4	A	G	5: 136,129,802 (GRCm39)	T261A	probably benign	Het
Sardh	T	C	2: 27,118,269 (GRCm39)	D487G	probably benign	Het
Sec16a	A	G	2: 26,330,030 (GRCm39)	Y662H	probably benign	Het
Sema3d	T	A	5: 12,635,067 (GRCm39)	L711*	probably null	Het
Septin14	T	A	5: 129,773,181 (GRCm39)	Y152F	probably damaging	Het
Smc5	A	G	19: 23,220,004 (GRCm39)	L411P	probably damaging	Het
Spata31e5	C	A	1: 28,816,495 (GRCm39)	E512D	probably damaging	Het
Spg7	T	A	8: 123,800,650 (GRCm39)	V39E	probably damaging	Het
Tas2r117	A	G	6: 132,779,817 (GRCm39)		probably benign	Het
Tle1	A	T	4: 72,040,687 (GRCm39)	I631N	probably damaging	Het
Tmed3	T	A	9: 89,581,843 (GRCm39)	S207C	probably damaging	Het
Tmem59l	G	A	8: 70,939,022 (GRCm39)	P51S	probably benign	Het
Trpc3	A	G	3: 36,678,542 (GRCm39)	Y848H	probably damaging	Het
Tsen2	T	C	6: 115,526,881 (GRCm39)	F66S	probably damaging	Het
Ttll5	T	A	12: 86,003,384 (GRCm39)	S216R	probably damaging	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vmn2r76	T	C	7: 85,875,114 (GRCm39)	N621S	probably damaging	Het
Wdr75	A	G	1: 45,856,539 (GRCm39)	T521A	probably damaging	Het
Wrnip1	T	A	13: 32,986,739 (GRCm39)	D173E	probably damaging	Het
Zfp317	G	A	9: 19,559,100 (GRCm39)	G438D	probably damaging	Het
Zscan10	T	A	17: 23,826,164 (GRCm39)	S109T	possibly damaging	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
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'- TTCCCTTAACTGCCACAAGG -3'
(R):5'- TAGTTACTATACTGACACTGGGCAG -3'

Sequencing Primer
(F):5'- ACAAGGTGGTGCTCATCTC -3'
(R):5'- GTGCTTTAGTTATTAATGGCAGGAAC -3'

Posted On

2018-08-01