Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01667:Akap13'

103325

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap13

Ensembl Gene

ENSMUSG00000066406

Gene Name

A kinase anchor protein 13

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01667

Quality Score

Status

Chromosome

Chromosomal Location

75105282-75404357 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75219767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 57 (T57A)

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: ENSMUST00000166315
AA Change: T57A

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

SMART Domains

Protein: ENSMUSP00000129784
Gene: ENSMUSG00000066406
AA Change: T57A

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: T57A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208187

Coding Region Coverage

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	G	T	4: 63,297,396 (GRCm39)	T886N	probably benign	Het
Aqp9	A	G	9: 71,045,495 (GRCm39)	V38A	probably benign	Het
Awat2	C	T	X: 99,447,860 (GRCm39)	G124D	probably damaging	Het
Camsap1	A	G	2: 25,835,293 (GRCm39)		probably benign	Het
Catsperg2	T	C	7: 29,409,558 (GRCm39)	Y545C	probably damaging	Het
Cldn23	A	G	8: 36,293,074 (GRCm39)	F138S	possibly damaging	Het
Clec4a3	A	C	6: 122,929,819 (GRCm39)		probably benign	Het
Dlgap3	C	A	4: 127,127,690 (GRCm39)	T786K	probably benign	Het
Dnah2	A	C	11: 69,435,221 (GRCm39)	S50A	probably benign	Het
Dnah2	A	T	11: 69,411,767 (GRCm39)	I285N	probably damaging	Het
Dnah7a	A	G	1: 53,586,451 (GRCm39)	Y1467H	probably damaging	Het
Fgf22	C	T	10: 79,592,588 (GRCm39)	P115L	probably damaging	Het
Fzd2	G	T	11: 102,496,608 (GRCm39)	V351L	possibly damaging	Het
Gapdhs	T	A	7: 30,436,062 (GRCm39)	E174V	possibly damaging	Het
Gjc2	A	C	11: 59,068,344 (GRCm39)	I46S	probably damaging	Het
Gm5581	T	C	6: 131,144,735 (GRCm39)		noncoding transcript	Het
Krt1c	C	A	15: 101,724,765 (GRCm39)	V282L	possibly damaging	Het
Myh15	G	A	16: 49,015,942 (GRCm39)	V1873M	probably benign	Het
Myo1b	T	C	1: 51,799,536 (GRCm39)	T931A	probably damaging	Het
Myo6	A	T	9: 80,197,175 (GRCm39)	K965N	unknown	Het
Or5a3	T	C	19: 12,400,120 (GRCm39)	V149A	probably benign	Het
Pcnx3	T	C	19: 5,736,658 (GRCm39)	R160G	probably benign	Het
Slc22a16	T	C	10: 40,461,014 (GRCm39)	I272T	probably damaging	Het
Slc35b4	A	G	6: 34,144,610 (GRCm39)	Y82H	possibly damaging	Het
Spdya	T	C	17: 71,863,254 (GRCm39)	M1T	probably null	Het
St6gal1	A	G	16: 23,140,174 (GRCm39)	N115S	probably benign	Het
Tbc1d12	A	T	19: 38,902,744 (GRCm39)		probably benign	Het
Tfrc	A	G	16: 32,443,261 (GRCm39)		probably benign	Het
Trip11	A	C	12: 101,845,121 (GRCm39)	F1539C	probably damaging	Het
Ttn	A	T	2: 76,611,422 (GRCm39)	I15624N	possibly damaging	Het
Vmn1r169	A	T	7: 23,277,225 (GRCm39)	M206L	probably benign	Het
Zfp362	A	G	4: 128,680,902 (GRCm39)	L141P	probably damaging	Het
Zfp692	A	G	11: 58,202,379 (GRCm39)	H378R	probably damaging	Het
Zfp799	T	C	17: 33,040,794 (GRCm39)	Q52R	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
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
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

Posted On

2014-01-21