Mutagenetix > Incidental Mutation

Incidental Mutation 'R0277:Fbn2'

65329

Institutional Source

Beutler Lab

Gene Symbol

Fbn2

Ensembl Gene

ENSMUSG00000024598

Gene Name

fibrillin 2

Synonyms

Fib-2, sy, Sne

MMRRC Submission

038499-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

R0277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58008623-58209926 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58045317 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 1950 (C1950R)

Ref Sequence

ENSEMBL: ENSMUSP00000025497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025497]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000025497
AA Change: C1950R

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

SMART Domains

Protein: ENSMUSP00000025497
Gene: ENSMUSG00000024598
AA Change: C1950R

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	29	52	N/A	INTRINSIC
low complexity region	68	77	N/A	INTRINSIC
EGF	148	176	1.15e1	SMART
EGF	179	208	1.26e-2	SMART
Pfam:TB	224	262	3.7e-10	PFAM
EGF_CA	276	317	8.3e-12	SMART
EGF_CA	318	359	9.25e-10	SMART
Pfam:TB	374	416	4.3e-13	PFAM
low complexity region	435	450	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
EGF	490	527	1.13e-4	SMART
EGF_CA	528	567	2.26e-13	SMART
EGF_CA	568	609	9.03e-13	SMART
EGF_CA	610	650	6.2e-11	SMART
EGF_CA	651	691	7.75e-12	SMART
Pfam:TB	707	748	5.2e-15	PFAM
EGF_CA	761	802	6.29e-12	SMART
EGF_CA	803	844	1.97e-13	SMART
EGF_CA	845	884	1.61e-9	SMART
Pfam:TB	899	935	1.8e-9	PFAM
EGF_CA	948	989	4.7e-11	SMART
Pfam:TB	1004	1044	1.3e-16	PFAM
EGF_CA	1066	1107	3.05e-10	SMART
EGF_CA	1108	1150	2.19e-11	SMART
EGF_CA	1151	1192	2.04e-11	SMART
EGF_CA	1193	1234	3.15e-12	SMART
EGF_CA	1235	1275	1.82e-8	SMART
EGF_CA	1276	1317	9.91e-10	SMART
EGF_CA	1318	1359	1.48e-8	SMART
EGF_CA	1360	1400	6.54e-10	SMART
EGF_CA	1401	1441	4.63e-10	SMART
EGF_CA	1442	1483	7.75e-12	SMART
EGF_CA	1484	1524	5.23e-9	SMART
EGF_CA	1525	1565	2.13e-9	SMART
Pfam:TB	1585	1625	3.4e-15	PFAM
EGF_CA	1643	1684	6.74e-12	SMART
EGF_CA	1685	1726	1.06e-9	SMART
Pfam:TB	1741	1783	1.2e-17	PFAM
EGF_CA	1801	1842	7.34e-13	SMART
EGF_CA	1843	1884	4.15e-12	SMART
EGF_CA	1885	1926	5.23e-9	SMART
EGF_CA	1927	1965	5.87e-12	SMART
EGF_CA	1966	2008	1.11e-12	SMART
EGF_CA	2009	2048	1.26e-11	SMART
EGF_CA	2049	2090	7.12e-11	SMART
Pfam:TB	2105	2147	1.2e-15	PFAM
EGF_CA	2164	2205	2.89e-11	SMART
EGF_CA	2206	2245	1.1e-11	SMART
EGF_CA	2246	2286	3.76e-10	SMART
EGF_CA	2287	2330	1.44e-6	SMART
EGF_CA	2331	2372	1.16e-10	SMART
Pfam:TB	2387	2429	1.9e-16	PFAM
EGF_CA	2442	2483	8.43e-13	SMART
EGF_CA	2484	2524	4.96e-10	SMART
EGF_CA	2525	2563	7.63e-11	SMART
EGF_CA	2564	2606	6.44e-9	SMART
EGF_CA	2607	2646	2.28e-9	SMART
EGF_CA	2647	2687	1.79e-7	SMART
EGF_CA	2688	2727	3.45e-9	SMART
low complexity region	2774	2786	N/A	INTRINSIC

Meta Mutation Damage Score

0.9217

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 95.0%
20x: 89.3%

Validation Efficiency

99% (111/112)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous, chemically-induced, and targeted null mutations show bilateral syndactyly with fusion of both soft and hard tissues. Deafness found in an X-ray induced allelic mutant is apparently due to the joint disruption of a linked gene. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930533L02Rik	A	G	7: 125,318,643	K69R	unknown	Het
4932438A13Rik	T	A	3: 36,943,182	C1129*	probably null	Het
Abca13	A	C	11: 9,294,701	D2188A	probably benign	Het
Acad11	T	C	9: 104,124,025	M708T	probably damaging	Het
Adam7	T	C	14: 68,510,857		probably null	Het
Adgre1	T	A	17: 57,444,060	I578N	probably benign	Het
Agbl4	T	C	4: 111,617,222	S403P	probably damaging	Het
Ak3	A	G	19: 29,047,792	M13T	possibly damaging	Het
Ap2s1	T	C	7: 16,747,380		probably benign	Het
Arhgef1	A	T	7: 24,923,799		probably benign	Het
Arsk	T	C	13: 76,074,932	N182S	probably benign	Het
Aspscr1	G	A	11: 120,678,420	V15I	probably damaging	Het
Asxl2	A	G	12: 3,442,487	Y24C	probably damaging	Het
Atp8b1	A	G	18: 64,568,252	F345S	possibly damaging	Het
Atp8b3	T	C	10: 80,526,909	K672E	probably benign	Het
Bmp2k	A	G	5: 97,087,823		probably benign	Het
Casp6	T	A	3: 129,910,523	V86E	probably benign	Het
Cdca5	A	G	19: 6,090,712	E260G	unknown	Het
Cpb2	T	A	14: 75,265,458	V159D	probably damaging	Het
Cylc2	T	A	4: 51,228,477	S183T	unknown	Het
Dhtkd1	T	A	2: 5,914,888	M561L	probably benign	Het
Dync2h1	T	C	9: 7,129,046	D1823G	probably benign	Het
Efcab5	G	A	11: 77,140,923	R42W	probably damaging	Het
Erc1	T	C	6: 119,620,328	K1003E	probably damaging	Het
Ezr	G	A	17: 6,754,765	Q105*	probably null	Het
Fam83d	T	A	2: 158,785,547	D385E	probably benign	Het
Fbxo32	A	T	15: 58,184,209	I236N	probably damaging	Het
Fcgbp	G	T	7: 28,085,493		probably null	Het
Foxe3	T	C	4: 114,925,608	N136D	probably damaging	Het
Fscn2	A	T	11: 120,368,011	I461F	probably damaging	Het
Gldc	A	G	19: 30,116,451	I722T	possibly damaging	Het
Gm10717	T	G	9: 3,025,619	V68G	possibly damaging	Het
Gm4841	A	G	18: 60,270,646	L125S	possibly damaging	Het
Gnl3	A	C	14: 31,013,427		probably null	Het
Gsto1	A	T	19: 47,857,977	I88F	probably damaging	Het
Gucy1b1	T	A	3: 82,038,156		probably null	Het
Hhla1	C	A	15: 65,948,503	V133F	probably benign	Het
Hipk3	T	A	2: 104,441,248	L446F	probably damaging	Het
Hscb	T	C	5: 110,834,690	E177G	possibly damaging	Het
Hsd17b6	T	C	10: 127,991,405	D266G	probably benign	Het
Ipo4	T	C	14: 55,632,115	S363G	probably benign	Het
Kcnip3	A	G	2: 127,459,979		probably benign	Het
Klhl41	A	G	2: 69,671,296	Y367C	probably damaging	Het
Klk1b4	C	G	7: 44,211,629	P232R	possibly damaging	Het
Lcp2	A	G	11: 34,054,322	D53G	probably damaging	Het
Llgl2	A	G	11: 115,850,720	K559E	probably damaging	Het
Lrrc59	A	C	11: 94,643,422	T269P	probably damaging	Het
Mark1	A	G	1: 184,944,952	S34P	possibly damaging	Het
Megf11	G	A	9: 64,691,350		probably null	Het
Mplkip	A	G	13: 17,696,980	I159V	possibly damaging	Het
Muc4	C	A	16: 32,755,690		probably benign	Het
Myo18b	A	G	5: 112,693,347		probably benign	Het
Myo9b	T	C	8: 71,355,952		probably benign	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ndrg3	A	G	2: 156,934,935		probably benign	Het
Nfe2l3	T	A	6: 51,457,468	M336K	probably benign	Het
Nrxn1	A	C	17: 90,700,742		probably null	Het
Nsun3	A	T	16: 62,776,644		probably benign	Het
Nuak1	T	C	10: 84,374,451	E591G	probably benign	Het
Olfr1347	T	A	7: 6,488,434	M147L	probably benign	Het
Olfr1511	T	C	14: 52,390,389	Y128C	probably damaging	Het
Olfr215	A	T	6: 116,582,601	V115E	probably damaging	Het
Olfr23	A	T	11: 73,940,947	I234F	probably benign	Het
Olfr730	T	C	14: 50,186,332	N296S	probably null	Het
Olfr814	T	A	10: 129,874,067	Q230L	probably damaging	Het
Olfr982	G	A	9: 40,074,714	V140I	probably benign	Het
Orc4	A	T	2: 48,937,467	V38E	possibly damaging	Het
Ovgp1	T	C	3: 105,979,892		probably benign	Het
Palm3	T	A	8: 84,028,720	V287D	probably damaging	Het
Pde4dip	T	A	3: 97,843,712	H62L	probably benign	Het
Pdk4	G	T	6: 5,491,620	P100Q	probably damaging	Het
Pdss2	T	A	10: 43,372,176	H225Q	probably benign	Het
Pkhd1	A	T	1: 20,275,538	D2755E	probably benign	Het
Prune2	A	T	19: 17,121,389	D1419V	probably damaging	Het
Pth2r	A	C	1: 65,388,616	I483L	probably benign	Het
Qrsl1	A	G	10: 43,896,007		probably null	Het
Rab11fip4	A	G	11: 79,686,629	H403R	possibly damaging	Het
Ralgapa1	A	T	12: 55,677,238	I1548N	probably damaging	Het
Ric8a	T	G	7: 140,857,900		probably benign	Het
Rsbn1	T	C	3: 103,914,581	F44S	possibly damaging	Het
Serpinc1	T	A	1: 160,989,702	M1K	probably null	Het
Sf3b1	T	C	1: 55,019,257	I58V	probably damaging	Het
Sh3d19	T	A	3: 86,126,671	M777K	probably benign	Het
Sipa1	A	T	19: 5,654,065	M743K	probably benign	Het
Skint5	T	C	4: 113,937,621	H255R	probably benign	Het
Slco6b1	A	T	1: 96,988,673		noncoding transcript	Het
Slfn4	A	T	11: 83,186,951	R188S	probably damaging	Het
Sort1	T	C	3: 108,324,592		probably benign	Het
Spg21	A	T	9: 65,465,347	K20N	possibly damaging	Het
Sptbn2	A	T	19: 4,745,145	I1544F	probably benign	Het
Srf	T	C	17: 46,549,489	T456A	possibly damaging	Het
Ssbp2	T	A	13: 91,564,596		probably benign	Het
Stx2	C	T	5: 128,988,903	V230I	probably benign	Het
Sv2b	A	T	7: 75,206,439	D34E	possibly damaging	Het
Synpo2l	A	G	14: 20,661,788	S255P	probably damaging	Het
Tbx15	C	T	3: 99,352,391	P526L	probably damaging	Het
Tenm4	C	A	7: 96,694,950	P250Q	possibly damaging	Het
Tgm1	C	A	14: 55,710,927		probably benign	Het
Tgm1	T	C	14: 55,712,652		probably benign	Het
Thsd7b	A	G	1: 130,195,263	I1540V	probably benign	Het
Tnrc6c	A	G	11: 117,739,881	K1023E	probably damaging	Het
Ube2l6	A	T	2: 84,806,427		probably null	Het
Uty	T	A	Y: 1,169,979	I326F	probably damaging	Het
Wdfy4	T	C	14: 33,083,785	D1735G	possibly damaging	Het
Wnt11	A	G	7: 98,847,383	K177E	probably damaging	Het
Wnt5a	A	T	14: 28,513,268	M70L	possibly damaging	Het
Wwc1	T	A	11: 35,852,348	E882V	probably damaging	Het
Zfp455	G	T	13: 67,198,664		probably null	Het
Zmpste24	A	G	4: 121,082,853	Y199H	probably damaging	Het

Other mutations in Fbn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00694:Fbn2	APN	18	58037809	missense	possibly damaging	0.81
IGL00780:Fbn2	APN	18	58095988	missense	probably damaging	1.00
IGL00923:Fbn2	APN	18	58012325	missense	probably benign	0.00
IGL01011:Fbn2	APN	18	58095240	splice site	probably benign
IGL01123:Fbn2	APN	18	58104081	missense	possibly damaging	0.62
IGL01304:Fbn2	APN	18	58061745	missense	probably damaging	0.97
IGL01339:Fbn2	APN	18	58113370	missense	possibly damaging	0.75
IGL01465:Fbn2	APN	18	58203833	missense	probably null	0.67
IGL01608:Fbn2	APN	18	58053704	nonsense	probably null
IGL01682:Fbn2	APN	18	58072671	missense	probably damaging	1.00
IGL01752:Fbn2	APN	18	58075977	splice site	probably null
IGL01764:Fbn2	APN	18	58045351	missense	probably damaging	1.00
IGL02002:Fbn2	APN	18	58114553	missense	probably benign	0.01
IGL02010:Fbn2	APN	18	58037722	missense	probably damaging	0.99
IGL02029:Fbn2	APN	18	58209603	missense	probably benign	0.04
IGL02037:Fbn2	APN	18	58096015	missense	probably damaging	1.00
IGL02350:Fbn2	APN	18	58103995	missense	possibly damaging	0.71
IGL02357:Fbn2	APN	18	58103995	missense	possibly damaging	0.71
IGL02653:Fbn2	APN	18	58076705	missense	probably benign
IGL03233:Fbn2	APN	18	58102377	missense	probably benign	0.39
IGL03347:Fbn2	APN	18	58013665	missense	probably damaging	1.00
IGL03410:Fbn2	APN	18	58050243	missense	possibly damaging	0.95
pinch	UTSW	18	58069184	missense	probably damaging	1.00
stick	UTSW	18	58071819	missense	possibly damaging	0.94
tweak	UTSW	18	58058389	missense	probably damaging	1.00
BB009:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
BB019:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
PIT4434001:Fbn2	UTSW	18	58096062	missense	probably damaging	0.99
R0020:Fbn2	UTSW	18	58105164	missense	probably damaging	1.00
R0069:Fbn2	UTSW	18	58069184	missense	probably damaging	1.00
R0107:Fbn2	UTSW	18	58056203	missense	probably benign	0.00
R0116:Fbn2	UTSW	18	58102373	nonsense	probably null
R0284:Fbn2	UTSW	18	58050290	splice site	probably benign
R0316:Fbn2	UTSW	18	58113325	missense	probably damaging	1.00
R0323:Fbn2	UTSW	18	58045317	missense	probably damaging	1.00
R0421:Fbn2	UTSW	18	58027804	splice site	probably benign
R0455:Fbn2	UTSW	18	58035336	missense	probably damaging	1.00
R0504:Fbn2	UTSW	18	58039460	missense	possibly damaging	0.94
R0520:Fbn2	UTSW	18	58013749	missense	probably damaging	1.00
R0632:Fbn2	UTSW	18	58037747	missense	probably damaging	1.00
R0638:Fbn2	UTSW	18	58045374	missense	probably damaging	0.98
R0645:Fbn2	UTSW	18	58058389	missense	probably damaging	1.00
R1051:Fbn2	UTSW	18	58012353	missense	probably damaging	0.99
R1209:Fbn2	UTSW	18	58070016	missense	probably benign	0.00
R1319:Fbn2	UTSW	18	58200610	missense	possibly damaging	0.88
R1400:Fbn2	UTSW	18	58080193	missense	possibly damaging	0.90
R1437:Fbn2	UTSW	18	58053659	missense	possibly damaging	0.68
R1463:Fbn2	UTSW	18	58010380	missense	probably benign
R1612:Fbn2	UTSW	18	58061752	missense	probably damaging	1.00
R1623:Fbn2	UTSW	18	58048548	missense	possibly damaging	0.61
R1629:Fbn2	UTSW	18	58026538	missense	probably damaging	1.00
R1639:Fbn2	UTSW	18	58058462	missense	probably benign	0.41
R1722:Fbn2	UTSW	18	58048052	critical splice acceptor site	probably null
R1749:Fbn2	UTSW	18	58050276	missense	probably benign	0.35
R1802:Fbn2	UTSW	18	58052976	nonsense	probably null
R1850:Fbn2	UTSW	18	58039305	splice site	probably benign
R1913:Fbn2	UTSW	18	58061742	missense	probably damaging	1.00
R2045:Fbn2	UTSW	18	58090658	missense	probably damaging	1.00
R2064:Fbn2	UTSW	18	58048849	missense	probably damaging	0.99
R2143:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2144:Fbn2	UTSW	18	58052993	missense	possibly damaging	0.65
R2149:Fbn2	UTSW	18	58102325	splice site	probably null
R2207:Fbn2	UTSW	18	58081399	nonsense	probably null
R2219:Fbn2	UTSW	18	58052963	missense	possibly damaging	0.79
R2263:Fbn2	UTSW	18	58095176	splice site	probably benign
R2375:Fbn2	UTSW	18	58035966	missense	probably damaging	1.00
R2424:Fbn2	UTSW	18	58203787	missense	probably damaging	0.99
R2504:Fbn2	UTSW	18	58093359	missense	probably damaging	0.99
R2879:Fbn2	UTSW	18	58069242	missense	probably damaging	0.97
R3040:Fbn2	UTSW	18	58093387	missense	probably damaging	1.00
R3080:Fbn2	UTSW	18	58149050	missense	probably damaging	0.97
R3625:Fbn2	UTSW	18	58061742	missense	probably damaging	1.00
R3901:Fbn2	UTSW	18	58066011	missense	probably damaging	0.97
R4089:Fbn2	UTSW	18	58053769	missense	probably benign	0.01
R4133:Fbn2	UTSW	18	58095962	missense	possibly damaging	0.82
R4155:Fbn2	UTSW	18	58023287	nonsense	probably null
R4288:Fbn2	UTSW	18	58035339	missense	probably damaging	0.98
R4289:Fbn2	UTSW	18	58035339	missense	probably damaging	0.98
R4363:Fbn2	UTSW	18	58149050	missense	probably damaging	0.97
R4559:Fbn2	UTSW	18	58076074	missense	probably benign	0.00
R4601:Fbn2	UTSW	18	58053733	missense	probably damaging	1.00
R4609:Fbn2	UTSW	18	58190269	nonsense	probably null
R4626:Fbn2	UTSW	18	58013747	nonsense	probably null
R4638:Fbn2	UTSW	18	58010304	missense	probably benign	0.01
R4675:Fbn2	UTSW	18	58040193	missense	possibly damaging	0.95
R4707:Fbn2	UTSW	18	58056272	missense	probably damaging	1.00
R4758:Fbn2	UTSW	18	58026386	missense	probably benign	0.00
R4945:Fbn2	UTSW	18	58050253	missense	possibly damaging	0.53
R4955:Fbn2	UTSW	18	58058383	missense	possibly damaging	0.61
R4980:Fbn2	UTSW	18	58010631	missense	probably benign	0.05
R4998:Fbn2	UTSW	18	58072631	missense	probably damaging	1.00
R5133:Fbn2	UTSW	18	58039340	missense	probably damaging	0.99
R5322:Fbn2	UTSW	18	58039315	missense	probably benign	0.00
R5414:Fbn2	UTSW	18	58093405	missense	probably damaging	0.96
R5538:Fbn2	UTSW	18	58071901	missense	probably benign	0.22
R5557:Fbn2	UTSW	18	58115659	missense	probably benign	0.00
R5754:Fbn2	UTSW	18	58124311	missense	probably benign	0.04
R5769:Fbn2	UTSW	18	58105199	missense	probably damaging	1.00
R5790:Fbn2	UTSW	18	58076696	missense	probably benign	0.34
R5830:Fbn2	UTSW	18	58114469	missense	probably benign	0.01
R5845:Fbn2	UTSW	18	58053768	missense	possibly damaging	0.89
R5880:Fbn2	UTSW	18	58023282	nonsense	probably null
R5907:Fbn2	UTSW	18	58045337	missense	probably damaging	1.00
R5948:Fbn2	UTSW	18	58037049	missense	probably damaging	1.00
R5955:Fbn2	UTSW	18	58044256	missense	probably damaging	1.00
R5974:Fbn2	UTSW	18	58048920	missense	probably damaging	1.00
R6010:Fbn2	UTSW	18	58069524	missense	probably benign	0.31
R6024:Fbn2	UTSW	18	58076836	missense	probably benign	0.03
R6037:Fbn2	UTSW	18	58044223	missense	probably benign	0.05
R6037:Fbn2	UTSW	18	58044223	missense	probably benign	0.05
R6315:Fbn2	UTSW	18	58054953	critical splice acceptor site	probably null
R6437:Fbn2	UTSW	18	58113363	missense	probably damaging	1.00
R6519:Fbn2	UTSW	18	58063575	missense	possibly damaging	0.61
R6520:Fbn2	UTSW	18	58102390	missense	probably damaging	1.00
R6734:Fbn2	UTSW	18	58035960	missense	probably damaging	1.00
R6755:Fbn2	UTSW	18	58113333	missense	possibly damaging	0.89
R6789:Fbn2	UTSW	18	58010614	missense	probably benign	0.00
R6801:Fbn2	UTSW	18	58113348	missense	probably benign	0.04
R6862:Fbn2	UTSW	18	58124321	missense	probably benign	0.04
R6900:Fbn2	UTSW	18	58076831	missense	probably benign
R6906:Fbn2	UTSW	18	58071819	missense	possibly damaging	0.94
R6919:Fbn2	UTSW	18	58124187	splice site	probably null
R6950:Fbn2	UTSW	18	58035921	missense	probably null	0.21
R6985:Fbn2	UTSW	18	58068388	missense	probably damaging	1.00
R7056:Fbn2	UTSW	18	58076726	missense	probably benign
R7199:Fbn2	UTSW	18	58053761	nonsense	probably null
R7219:Fbn2	UTSW	18	58053027	missense	probably benign	0.04
R7226:Fbn2	UTSW	18	58037070	missense	probably damaging	1.00
R7260:Fbn2	UTSW	18	58066116	missense	probably benign	0.14
R7414:Fbn2	UTSW	18	58096050	missense	probably damaging	1.00
R7485:Fbn2	UTSW	18	58071840	missense	possibly damaging	0.50
R7523:Fbn2	UTSW	18	58066080	missense	probably benign	0.01
R7549:Fbn2	UTSW	18	58020464	nonsense	probably null
R7619:Fbn2	UTSW	18	58080227	missense	possibly damaging	0.46
R7638:Fbn2	UTSW	18	58105136	missense	probably damaging	1.00
R7789:Fbn2	UTSW	18	58039313	missense	probably benign	0.22
R7932:Fbn2	UTSW	18	58020483	missense	possibly damaging	0.61
R8013:Fbn2	UTSW	18	58104081	missense	possibly damaging	0.62
R8076:Fbn2	UTSW	18	58026424	nonsense	probably null
R8300:Fbn2	UTSW	18	58209615	missense	probably benign
R8345:Fbn2	UTSW	18	58058431	missense	probably damaging	1.00
R8487:Fbn2	UTSW	18	58020390	missense	possibly damaging	0.53
R8520:Fbn2	UTSW	18	58038198	critical splice donor site	probably null
R8781:Fbn2	UTSW	18	58061647	missense	possibly damaging	0.88
R8801:Fbn2	UTSW	18	58153949	missense	probably damaging	1.00
R8857:Fbn2	UTSW	18	58153861	missense	probably damaging	1.00
R8878:Fbn2	UTSW	18	58124246	missense	probably benign	0.30
R8909:Fbn2	UTSW	18	58059436	missense	possibly damaging	0.88
R8973:Fbn2	UTSW	18	58153856	missense	probably damaging	1.00
R8975:Fbn2	UTSW	18	58153856	missense	probably damaging	1.00
R8979:Fbn2	UTSW	18	58153856	missense	probably damaging	1.00
R8991:Fbn2	UTSW	18	58106323	missense	probably damaging	1.00
R9003:Fbn2	UTSW	18	58043519	missense	probably damaging	1.00
R9205:Fbn2	UTSW	18	58059356	missense	probably damaging	1.00
R9215:Fbn2	UTSW	18	58076675	missense	probably damaging	1.00
R9263:Fbn2	UTSW	18	58124272	missense	probably damaging	1.00
R9307:Fbn2	UTSW	18	58209784	missense	probably benign
R9337:Fbn2	UTSW	18	58209651	missense	probably benign
R9403:Fbn2	UTSW	18	58066107	missense	probably damaging	1.00
R9501:Fbn2	UTSW	18	58076058	missense	probably damaging	1.00
R9503:Fbn2	UTSW	18	58038241	missense	probably damaging	1.00
R9509:Fbn2	UTSW	18	58114478	missense	probably benign	0.22
R9561:Fbn2	UTSW	18	58048539	nonsense	probably null
R9565:Fbn2	UTSW	18	58095226	missense	probably benign	0.20
R9652:Fbn2	UTSW	18	58013650	critical splice donor site	probably null
R9659:Fbn2	UTSW	18	58209582	missense	probably damaging	0.98
R9679:Fbn2	UTSW	18	58068361	missense	probably damaging	1.00
R9683:Fbn2	UTSW	18	58053027	missense	probably benign	0.04
R9773:Fbn2	UTSW	18	58010409	missense	probably benign
X0062:Fbn2	UTSW	18	58056213	missense	probably damaging	1.00
Z1177:Fbn2	UTSW	18	58010379	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58055482	missense	probably benign	0.00
Z1177:Fbn2	UTSW	18	58069190	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08