Mutagenetix > Incidental Mutation

Incidental Mutation 'R4448:Akap13'

328833

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

041709-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4448 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75105282-75404357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 75392508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 2450 (F2450L)

Ref Sequence

ENSEMBL: ENSMUSP00000147237 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000147005
AA Change: F2450L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117686
Gene: ENSMUSG00000066406
AA Change: F2450L

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

probably damaging
Transcript: ENSMUST00000166315
AA Change: F2432L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129784
Gene: ENSMUSG00000066406
AA Change: F2432L

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: F2450L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

94% (49/52)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3930402G23Rik	T	A	8: 10,976,129 (GRCm39)		noncoding transcript	Het
A1cf	A	T	19: 31,923,262 (GRCm39)	T513S	probably benign	Het
Acaca	A	T	11: 84,153,318 (GRCm39)	I909F	probably damaging	Het
Adgb	T	C	10: 10,266,569 (GRCm39)	I980V	probably benign	Het
Alg11	C	A	8: 22,558,095 (GRCm39)	A469E	probably benign	Het
Asb8	A	G	15: 98,039,211 (GRCm39)	V63A	possibly damaging	Het
Atp6v1b2	T	A	8: 69,554,674 (GRCm39)	D126E	probably benign	Het
BC048562	T	A	9: 108,315,723 (GRCm39)	L43Q	probably damaging	Het
Ctcf	A	T	8: 106,406,925 (GRCm39)		probably benign	Het
Efs	A	G	14: 55,157,649 (GRCm39)	S128P	probably damaging	Het
Epg5	T	A	18: 78,005,676 (GRCm39)	M722K	probably damaging	Het
Ezr	T	C	17: 7,020,473 (GRCm39)	I203V	probably benign	Het
F5	A	T	1: 164,026,468 (GRCm39)	N1680I	possibly damaging	Het
Fcna	A	G	2: 25,515,488 (GRCm39)	F194L	probably damaging	Het
Fut7	A	G	2: 25,314,951 (GRCm39)	T70A	probably benign	Het
Galnt2	A	G	8: 125,022,116 (GRCm39)	D14G	probably benign	Het
Gpr4	G	A	7: 18,956,926 (GRCm39)	A283T	probably damaging	Het
Herc2	T	C	7: 55,877,640 (GRCm39)	L4569P	probably damaging	Het
Hhip	C	T	8: 80,770,574 (GRCm39)		probably null	Het
Hoxc12	A	G	15: 102,846,911 (GRCm39)	K268E	probably damaging	Het
Iqcm	T	C	8: 76,356,394 (GRCm39)	S176P	probably damaging	Het
Kansl1l	A	G	1: 66,777,318 (GRCm39)	S605P	probably damaging	Het
Kcnh4	A	G	11: 100,646,733 (GRCm39)	F198L	probably benign	Het
Kmt2e	T	C	5: 23,669,788 (GRCm39)	F92L	possibly damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mycbp2	T	C	14: 103,425,938 (GRCm39)	I2396V	possibly damaging	Het
Nckap5	G	A	1: 125,953,463 (GRCm39)	Q1030*	probably null	Het
Pag1	T	C	3: 9,764,526 (GRCm39)	E209G	probably benign	Het
Pramel30	A	C	4: 144,059,255 (GRCm39)	H322P	probably damaging	Het
Pttg1	A	T	11: 43,315,517 (GRCm39)		probably benign	Het
Rab38	T	G	7: 88,139,833 (GRCm39)	D167E	probably benign	Het
Rbm26	A	T	14: 105,388,986 (GRCm39)	F302I	probably damaging	Het
Rpap2	G	A	5: 107,749,661 (GRCm39)	V62I	possibly damaging	Het
Sec23b	A	G	2: 144,401,171 (GRCm39)	N11D	probably benign	Het
Sipa1l1	G	A	12: 82,388,524 (GRCm39)	G250D	probably benign	Het
Sipa1l2	A	T	8: 126,219,094 (GRCm39)	V81D	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Sqstm1	A	G	11: 50,093,866 (GRCm39)		probably benign	Het
Taf4	A	G	2: 179,577,764 (GRCm39)	L519P	possibly damaging	Het
Tdrd6	C	T	17: 43,940,626 (GRCm39)	G141S	probably benign	Het
Urb1	C	T	16: 90,566,282 (GRCm39)	V1502I	possibly damaging	Het
Vmn1r222	A	C	13: 23,416,463 (GRCm39)	V250G	probably benign	Het
Vmn1r222	G	A	13: 23,416,830 (GRCm39)	L128F	probably damaging	Het
Wwc2	A	G	8: 48,321,702 (GRCm39)	Y471H	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
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
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'- AGACTGTACATATCCCATGTTGCC -3'
(R):5'- AAGCTTATGGTCCCAGATGAAC -3'

Sequencing Primer
(F):5'- CCTCTTAATGGAAGAAAGCTAGATAC -3'
(R):5'- GGTCCCAGATGAACATAATTCTGAC -3'

Posted On

2015-07-21