Mutagenetix > Incidental Mutation

Incidental Mutation 'R9161:Fbn1'

695679

Institutional Source

Beutler Lab

Gene Symbol

Fbn1

Ensembl Gene

ENSMUSG00000027204

Gene Name

fibrillin 1

Synonyms

Fib-1

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R9161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125142514-125348417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125192270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1413 (N1413S)

Ref Sequence

ENSEMBL: ENSMUSP00000028633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028633] [ENSMUST00000103234]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028633
AA Change: N1413S

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

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: N1413S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
EGF	118	146	8.52e0	SMART
EGF	149	178	5.4e-2	SMART
Pfam:TB	193	235	6.9e-17	PFAM
EGF_CA	246	287	3.56e-11	SMART
EGF_CA	288	329	9.39e-11	SMART
Pfam:TB	343	388	2.3e-17	PFAM
low complexity region	394	445	N/A	INTRINSIC
EGF	454	491	8.57e-5	SMART
EGF_CA	492	531	9.39e-11	SMART
EGF_CA	532	573	2.38e-12	SMART
EGF_CA	574	614	5.48e-12	SMART
EGF_CA	615	655	5.39e-11	SMART
Pfam:TB	670	712	1.4e-17	PFAM
EGF_CA	725	766	1.53e-10	SMART
EGF_CA	767	808	2.42e-13	SMART
EGF_CA	809	848	2.44e-9	SMART
Pfam:TB	862	902	2.1e-14	PFAM
EGF_CA	912	953	3.32e-11	SMART
Pfam:TB	967	1009	3.9e-17	PFAM
EGF_CA	1030	1071	5.11e-12	SMART
EGF_CA	1072	1114	5.39e-11	SMART
EGF_CA	1115	1156	1.55e-11	SMART
EGF_CA	1157	1198	5.48e-12	SMART
EGF_CA	1199	1239	5.61e-9	SMART
EGF_CA	1240	1281	1.22e-9	SMART
EGF_CA	1282	1323	2.62e-9	SMART
EGF_CA	1324	1364	3.27e-10	SMART
EGF_CA	1365	1405	4.7e-11	SMART
EGF_CA	1406	1447	1.91e-11	SMART
EGF_CA	1448	1488	1.98e-9	SMART
EGF_CA	1489	1529	2.13e-9	SMART
Pfam:TB	1549	1590	3.5e-18	PFAM
EGF_CA	1608	1649	2.19e-11	SMART
EGF_CA	1650	1690	3.97e-9	SMART
Pfam:TB	1706	1749	9.7e-18	PFAM
EGF_CA	1768	1809	5.11e-12	SMART
EGF_CA	1810	1850	1.1e-11	SMART
EGF_CA	1851	1892	5.69e-10	SMART
EGF_CA	1893	1931	6.1e-10	SMART
EGF_CA	1932	1974	2.11e-13	SMART
EGF_CA	1975	2014	7.23e-12	SMART
EGF_CA	2015	2056	3.15e-12	SMART
Pfam:TB	2070	2112	3.7e-17	PFAM
EGF_CA	2129	2167	1.24e-10	SMART
EGF_CA	2168	2207	3.81e-11	SMART
EGF_CA	2208	2248	3.81e-11	SMART
EGF	2252	2292	5.24e0	SMART
EGF_CA	2293	2334	9.91e-10	SMART
Pfam:TB	2348	2391	8.5e-18	PFAM
EGF_CA	2404	2445	1.26e-11	SMART
EGF_CA	2446	2486	1.06e-9	SMART
EGF_CA	2487	2525	3.1e-11	SMART
EGF_CA	2526	2568	1.48e-8	SMART
EGF_CA	2569	2608	1.14e-9	SMART
EGF_CA	2609	2649	3.97e-9	SMART
EGF_CA	2650	2689	1.98e-9	SMART
low complexity region	2691	2698	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103234
AA Change: N1413S

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

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: N1413S

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
EGF	118	146	8.52e0	SMART
EGF	149	178	5.4e-2	SMART
Pfam:TB	194	232	3.5e-10	PFAM
EGF_CA	246	287	3.56e-11	SMART
EGF_CA	288	329	9.39e-11	SMART
Pfam:TB	344	388	6.8e-15	PFAM
low complexity region	394	445	N/A	INTRINSIC
EGF	454	491	8.57e-5	SMART
EGF_CA	492	531	9.39e-11	SMART
EGF_CA	532	573	2.38e-12	SMART
EGF_CA	574	614	5.48e-12	SMART
EGF_CA	615	655	5.39e-11	SMART
Pfam:TB	671	712	8.3e-16	PFAM
EGF_CA	725	766	1.53e-10	SMART
EGF_CA	767	808	2.42e-13	SMART
EGF_CA	809	848	2.44e-9	SMART
Pfam:TB	863	898	3.1e-8	PFAM
EGF_CA	912	953	3.32e-11	SMART
Pfam:TB	968	1009	1.5e-15	PFAM
EGF_CA	1030	1071	5.11e-12	SMART
EGF_CA	1072	1114	5.39e-11	SMART
EGF_CA	1115	1156	1.55e-11	SMART
EGF_CA	1157	1198	5.48e-12	SMART
EGF_CA	1199	1239	5.61e-9	SMART
EGF_CA	1240	1281	1.22e-9	SMART
EGF_CA	1282	1323	2.62e-9	SMART
EGF_CA	1324	1364	3.27e-10	SMART
EGF_CA	1365	1405	4.7e-11	SMART
EGF_CA	1406	1447	1.91e-11	SMART
EGF_CA	1448	1488	1.98e-9	SMART
EGF_CA	1489	1529	2.13e-9	SMART
Pfam:TB	1550	1590	5.3e-17	PFAM
EGF_CA	1608	1649	2.19e-11	SMART
EGF_CA	1650	1690	3.97e-9	SMART
Pfam:TB	1707	1749	1.6e-16	PFAM
EGF_CA	1768	1809	5.11e-12	SMART
EGF_CA	1810	1850	1.1e-11	SMART
EGF_CA	1851	1892	5.69e-10	SMART
EGF_CA	1893	1931	6.1e-10	SMART
EGF_CA	1932	1974	2.11e-13	SMART
EGF_CA	1975	2014	7.23e-12	SMART
EGF_CA	2015	2056	3.15e-12	SMART
Pfam:TB	2071	2112	1.9e-15	PFAM
EGF_CA	2129	2167	1.24e-10	SMART
EGF_CA	2168	2207	3.81e-11	SMART
EGF_CA	2208	2248	3.81e-11	SMART
EGF	2252	2292	5.24e0	SMART
EGF_CA	2293	2334	9.91e-10	SMART
Pfam:TB	2349	2391	5.8e-15	PFAM
EGF_CA	2404	2445	1.26e-11	SMART
EGF_CA	2446	2486	1.06e-9	SMART
EGF_CA	2487	2525	3.1e-11	SMART
EGF_CA	2526	2568	1.48e-8	SMART
EGF_CA	2569	2608	1.14e-9	SMART
EGF_CA	2609	2649	3.97e-9	SMART
EGF_CA	2650	2689	1.98e-9	SMART
low complexity region	2691	2698	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Homozygous knockout mice for this gene exhibit impaired aortic development and early postnatal death, which was attributed to a deficiency in the fibrillin-1 protein. Mice with a hypomorphic allele of this gene exhibit impaired glucose homeostasis, likely due to a reduction in serum asprosin levels. [provided by RefSeq, Apr 2016]
PHENOTYPE: Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema. Mice heterozygous for a knock-in allele exhibit scleroderma. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(9) Spontaneous(1)

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	A	8: 13,272,270 (GRCm39)	N1496I	probably damaging	Het
Arglu1	T	C	8: 8,733,941 (GRCm39)	E125G	possibly damaging	Het
Atad2	A	T	15: 57,989,185 (GRCm39)	I225N	possibly damaging	Het
Atrn	T	C	2: 130,777,470 (GRCm39)	F173S	probably damaging	Het
BC024063	T	A	10: 81,945,044 (GRCm39)	H221Q	probably benign	Het
Bnip5	T	A	17: 29,128,387 (GRCm39)	K175N	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh24	A	T	14: 54,876,097 (GRCm39)	Y182N	probably damaging	Het
Cdkl4	A	G	17: 80,851,120 (GRCm39)	L194P	probably damaging	Het
Cep152	T	A	2: 125,408,574 (GRCm39)	R1327*	probably null	Het
Ckap5	A	T	2: 91,445,653 (GRCm39)	M1797L	probably benign	Het
Clasp1	A	T	1: 118,474,651 (GRCm39)	N895I	probably damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cotl1	G	T	8: 120,549,456 (GRCm39)	D85E	probably benign	Het
Cryba4	A	C	5: 112,396,039 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,625,023 (GRCm39)	K3817E	probably benign	Het
Ehd3	A	T	17: 74,134,480 (GRCm39)	R280*	probably null	Het
Erp29	T	C	5: 121,583,146 (GRCm39)	E260G	possibly damaging	Het
Fam135b	T	A	15: 71,334,417 (GRCm39)	R926W	possibly damaging	Het
Fbxw8	A	G	5: 118,251,727 (GRCm39)	V262A	probably damaging	Het
Gabrb1	A	G	5: 72,187,199 (GRCm39)	D164G	probably damaging	Het
Galnt15	T	A	14: 31,780,116 (GRCm39)	I471N	probably damaging	Het
Get1	A	T	16: 95,953,139 (GRCm39)	R77W	probably damaging	Het
Gon4l	A	G	3: 88,808,955 (GRCm39)	N1733S	probably damaging	Het
Hmcn2	A	G	2: 31,242,758 (GRCm39)	T562A	probably benign	Het
Inha	A	G	1: 75,484,144 (GRCm39)	I85V	probably damaging	Het
Kif28	A	C	1: 179,526,244 (GRCm39)	V897G	probably benign	Het
Map1s	G	A	8: 71,366,250 (GRCm39)	R385H	probably damaging	Het
Map2	T	C	1: 66,477,503 (GRCm39)	V1750A	possibly damaging	Het
Mbd1	C	T	18: 74,407,792 (GRCm39)	P273L	probably benign	Het
Megf6	A	G	4: 154,352,172 (GRCm39)	T1226A	probably benign	Het
Muc5ac	T	A	7: 141,353,026 (GRCm39)	C791S	possibly damaging	Het
Nlrc5	A	C	8: 95,213,274 (GRCm39)	H883P	probably damaging	Het
Nrip3	C	T	7: 109,365,777 (GRCm39)	R91H	probably damaging	Het
Or10w1	G	A	19: 13,632,038 (GRCm39)	V82M	probably damaging	Het
Or12j3	C	T	7: 139,952,989 (GRCm39)	C178Y	probably damaging	Het
Or51a10	C	A	7: 103,699,725 (GRCm39)		probably benign	Het
Or8g21	A	T	9: 38,905,816 (GRCm39)	I305K	possibly damaging	Het
Or8k16	A	G	2: 85,520,231 (GRCm39)	T153A	probably benign	Het
Pdgfrb	T	G	18: 61,197,053 (GRCm39)	L163R	probably damaging	Het
Pik3ip1	G	T	11: 3,281,945 (GRCm39)	R34L	possibly damaging	Het
Pip4k2b	A	G	11: 97,615,245 (GRCm39)	F205S	possibly damaging	Het
Pttg1ip	A	C	10: 77,425,487 (GRCm39)	N60T	probably benign	Het
Rab3ip	C	T	10: 116,750,066 (GRCm39)	E356K	probably damaging	Het
Rai1	A	G	11: 60,076,682 (GRCm39)	N249D	probably benign	Het
Rd3l	T	C	12: 111,946,753 (GRCm39)	K8E	probably damaging	Het
Rnf32	A	G	5: 29,408,058 (GRCm39)	K96E	probably damaging	Het
Rsf1	GGCG	GGCGACCGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Slc4a1ap	A	G	5: 31,685,474 (GRCm39)	K251E		Het
Spink5	T	A	18: 44,147,986 (GRCm39)	N875K	probably damaging	Het
Taf6	G	T	5: 138,178,160 (GRCm39)	A447D	probably benign	Het
Tbxas1	A	T	6: 38,999,989 (GRCm39)	I259F	probably damaging	Het
Tcap	G	T	11: 98,275,256 (GRCm39)	R130L	probably damaging	Het
Tyms	T	C	5: 30,266,040 (GRCm39)	E293G		Het
Vmn1r20	C	A	6: 57,408,759 (GRCm39)	F28L	probably benign	Het
Vmn2r120	A	T	17: 57,831,864 (GRCm39)	D308E		Het
Vmn2r69	T	A	7: 85,056,177 (GRCm39)	I654F	possibly damaging	Het
Zfp990	G	T	4: 145,261,509 (GRCm39)	V52L	possibly damaging	Het

Other mutations in Fbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fbn1	APN	2	125,166,867 (GRCm39)	missense	probably damaging	1.00
IGL00159:Fbn1	APN	2	125,239,793 (GRCm39)	missense	probably benign	0.14
IGL00500:Fbn1	APN	2	125,159,436 (GRCm39)	missense	probably damaging	0.99
IGL00558:Fbn1	APN	2	125,171,048 (GRCm39)	splice site	probably benign
IGL00645:Fbn1	APN	2	125,159,023 (GRCm39)	splice site	probably benign
IGL00863:Fbn1	APN	2	125,245,139 (GRCm39)	missense	possibly damaging	0.84
IGL00926:Fbn1	APN	2	125,160,962 (GRCm39)	missense	possibly damaging	0.84
IGL00935:Fbn1	APN	2	125,219,830 (GRCm39)	nonsense	probably null
IGL00950:Fbn1	APN	2	125,200,743 (GRCm39)	missense	probably damaging	1.00
IGL01090:Fbn1	APN	2	125,236,696 (GRCm39)	splice site	probably benign
IGL01106:Fbn1	APN	2	125,193,626 (GRCm39)	missense	possibly damaging	0.55
IGL01486:Fbn1	APN	2	125,231,898 (GRCm39)	missense	probably benign	0.03
IGL01519:Fbn1	APN	2	125,158,939 (GRCm39)	missense	probably benign	0.07
IGL01585:Fbn1	APN	2	125,202,030 (GRCm39)	missense	probably damaging	0.98
IGL01730:Fbn1	APN	2	125,154,894 (GRCm39)	splice site	probably benign
IGL01793:Fbn1	APN	2	125,229,213 (GRCm39)	missense	possibly damaging	0.67
IGL01803:Fbn1	APN	2	125,192,207 (GRCm39)	missense	probably damaging	1.00
IGL01803:Fbn1	APN	2	125,143,645 (GRCm39)	missense	probably benign
IGL01916:Fbn1	APN	2	125,157,366 (GRCm39)	missense	possibly damaging	0.55
IGL02035:Fbn1	APN	2	125,177,282 (GRCm39)	splice site	probably null
IGL02097:Fbn1	APN	2	125,205,889 (GRCm39)	missense	probably damaging	1.00
IGL02233:Fbn1	APN	2	125,163,530 (GRCm39)	splice site	probably benign
IGL02512:Fbn1	APN	2	125,180,380 (GRCm39)	missense	probably damaging	1.00
IGL02552:Fbn1	APN	2	125,254,633 (GRCm39)	missense	possibly damaging	0.86
IGL02657:Fbn1	APN	2	125,193,945 (GRCm39)	missense	possibly damaging	0.86
IGL02718:Fbn1	APN	2	125,211,806 (GRCm39)	missense	probably damaging	1.00
IGL02863:Fbn1	APN	2	125,145,176 (GRCm39)	missense	possibly damaging	0.80
IGL02974:Fbn1	APN	2	125,188,250 (GRCm39)	missense	probably null	0.99
IGL03058:Fbn1	APN	2	125,245,120 (GRCm39)	missense	probably benign	0.03
IGL03172:Fbn1	APN	2	125,162,888 (GRCm39)	missense	possibly damaging	0.92
IGL03288:Fbn1	APN	2	125,145,103 (GRCm39)	missense	probably benign	0.13
Carinatum	UTSW	2	125,184,750 (GRCm39)	missense	possibly damaging	0.70
Elasticity	UTSW	2	125,245,052 (GRCm39)	missense	possibly damaging	0.63
Excavatum	UTSW	2	125,177,407 (GRCm39)	missense	probably damaging	1.00
Exceedingly	UTSW	2	125,186,015 (GRCm39)	critical splice acceptor site	probably benign
Extensor	UTSW	2	125,170,078 (GRCm39)	missense	probably damaging	1.00
lincoln	UTSW	2	125,245,090 (GRCm39)	missense	possibly damaging	0.50
Long	UTSW	2	125,158,958 (GRCm39)	missense	probably damaging	1.00
Pectus	UTSW	2	125,163,611 (GRCm39)	missense	possibly damaging	0.82
Reach	UTSW	2	125,223,954 (GRCm39)	nonsense	probably null
reaper	UTSW	2	125,157,324 (GRCm39)	missense	probably damaging	0.98
Scythe	UTSW	2	125,245,148 (GRCm39)	missense	possibly damaging	0.84
String_bean	UTSW	2	125,221,054 (GRCm39)	splice site	probably null
wirey	UTSW	2	125,151,415 (GRCm39)	missense	probably benign
3-1:Fbn1	UTSW	2	125,236,525 (GRCm39)	splice site	probably benign
BB004:Fbn1	UTSW	2	125,225,656 (GRCm39)	missense	possibly damaging	0.82
BB014:Fbn1	UTSW	2	125,225,656 (GRCm39)	missense	possibly damaging	0.82
P0012:Fbn1	UTSW	2	125,211,241 (GRCm39)	splice site	probably benign
PIT4403001:Fbn1	UTSW	2	125,184,831 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Fbn1	UTSW	2	125,148,421 (GRCm39)	missense	possibly damaging	0.90
PIT4472001:Fbn1	UTSW	2	125,148,421 (GRCm39)	missense	possibly damaging	0.90
PIT4651001:Fbn1	UTSW	2	125,205,909 (GRCm39)	critical splice acceptor site	probably null
R0226:Fbn1	UTSW	2	125,162,830 (GRCm39)	missense	possibly damaging	0.86
R0310:Fbn1	UTSW	2	125,205,564 (GRCm39)	missense	probably damaging	1.00
R0362:Fbn1	UTSW	2	125,151,697 (GRCm39)	missense	probably damaging	0.99
R0374:Fbn1	UTSW	2	125,163,596 (GRCm39)	missense	possibly damaging	0.86
R0433:Fbn1	UTSW	2	125,190,135 (GRCm39)	missense	possibly damaging	0.95
R0441:Fbn1	UTSW	2	125,151,675 (GRCm39)	critical splice donor site	probably null
R0501:Fbn1	UTSW	2	125,143,669 (GRCm39)	missense	probably benign	0.23
R0510:Fbn1	UTSW	2	125,184,845 (GRCm39)	splice site	probably benign
R0573:Fbn1	UTSW	2	125,231,169 (GRCm39)	missense	probably damaging	0.99
R0622:Fbn1	UTSW	2	125,220,944 (GRCm39)	missense	possibly damaging	0.88
R0630:Fbn1	UTSW	2	125,236,690 (GRCm39)	missense	possibly damaging	0.48
R0724:Fbn1	UTSW	2	125,193,984 (GRCm39)	missense	probably benign	0.14
R0739:Fbn1	UTSW	2	125,209,550 (GRCm39)	missense	probably benign	0.18
R0744:Fbn1	UTSW	2	125,156,734 (GRCm39)	splice site	probably benign
R0811:Fbn1	UTSW	2	125,245,090 (GRCm39)	missense	possibly damaging	0.50
R0812:Fbn1	UTSW	2	125,245,090 (GRCm39)	missense	possibly damaging	0.50
R0862:Fbn1	UTSW	2	125,184,811 (GRCm39)	nonsense	probably null
R0864:Fbn1	UTSW	2	125,184,811 (GRCm39)	nonsense	probably null
R1061:Fbn1	UTSW	2	125,187,883 (GRCm39)	missense	probably benign	0.01
R1126:Fbn1	UTSW	2	125,163,112 (GRCm39)	splice site	probably null
R1172:Fbn1	UTSW	2	125,236,607 (GRCm39)	missense	probably benign	0.13
R1175:Fbn1	UTSW	2	125,236,607 (GRCm39)	missense	probably benign	0.13
R1183:Fbn1	UTSW	2	125,163,537 (GRCm39)	missense	probably benign	0.07
R1218:Fbn1	UTSW	2	125,254,669 (GRCm39)	missense	possibly damaging	0.71
R1241:Fbn1	UTSW	2	125,214,447 (GRCm39)	splice site	probably benign
R1248:Fbn1	UTSW	2	125,143,529 (GRCm39)	missense	probably benign	0.01
R1345:Fbn1	UTSW	2	125,156,591 (GRCm39)	missense	probably damaging	1.00
R1374:Fbn1	UTSW	2	125,188,354 (GRCm39)	missense	probably damaging	0.99
R1458:Fbn1	UTSW	2	125,143,849 (GRCm39)	missense	probably benign	0.01
R1474:Fbn1	UTSW	2	125,203,185 (GRCm39)	missense	possibly damaging	0.72
R1496:Fbn1	UTSW	2	125,151,415 (GRCm39)	missense	probably benign
R1502:Fbn1	UTSW	2	125,205,626 (GRCm39)	nonsense	probably null
R1511:Fbn1	UTSW	2	125,148,205 (GRCm39)	missense	probably benign	0.00
R1588:Fbn1	UTSW	2	125,161,034 (GRCm39)	missense	probably benign	0.19
R1626:Fbn1	UTSW	2	125,183,199 (GRCm39)	missense	probably damaging	1.00
R1676:Fbn1	UTSW	2	125,151,701 (GRCm39)	missense	probably damaging	1.00
R1712:Fbn1	UTSW	2	125,188,354 (GRCm39)	missense	probably damaging	0.99
R1772:Fbn1	UTSW	2	125,245,148 (GRCm39)	missense	possibly damaging	0.84
R1776:Fbn1	UTSW	2	125,163,654 (GRCm39)	missense	possibly damaging	0.71
R1869:Fbn1	UTSW	2	125,193,947 (GRCm39)	missense	probably benign	0.00
R1894:Fbn1	UTSW	2	125,236,541 (GRCm39)	missense	probably damaging	0.96
R1925:Fbn1	UTSW	2	125,205,549 (GRCm39)	missense	probably damaging	1.00
R1957:Fbn1	UTSW	2	125,209,574 (GRCm39)	missense	possibly damaging	0.93
R1995:Fbn1	UTSW	2	125,192,293 (GRCm39)	critical splice acceptor site	probably null
R2140:Fbn1	UTSW	2	125,185,730 (GRCm39)	missense	probably damaging	1.00
R2142:Fbn1	UTSW	2	125,254,628 (GRCm39)	missense	possibly damaging	0.93
R2268:Fbn1	UTSW	2	125,163,661 (GRCm39)	missense	possibly damaging	0.49
R3409:Fbn1	UTSW	2	125,254,585 (GRCm39)	missense	possibly damaging	0.92
R3418:Fbn1	UTSW	2	125,162,846 (GRCm39)	missense	possibly damaging	0.55
R3508:Fbn1	UTSW	2	125,148,247 (GRCm39)	missense	probably benign	0.19
R3778:Fbn1	UTSW	2	125,159,006 (GRCm39)	missense	probably damaging	1.00
R3800:Fbn1	UTSW	2	125,187,894 (GRCm39)	missense	possibly damaging	0.63
R4001:Fbn1	UTSW	2	125,319,415 (GRCm39)	critical splice donor site	probably null
R4169:Fbn1	UTSW	2	125,205,872 (GRCm39)	missense	possibly damaging	0.86
R4398:Fbn1	UTSW	2	125,239,701 (GRCm39)	missense	probably benign	0.32
R4482:Fbn1	UTSW	2	125,205,530 (GRCm39)	critical splice donor site	probably null
R4559:Fbn1	UTSW	2	125,193,634 (GRCm39)	missense	possibly damaging	0.65
R4608:Fbn1	UTSW	2	125,148,420 (GRCm39)	missense	probably benign	0.05
R4634:Fbn1	UTSW	2	125,185,981 (GRCm39)	missense	probably damaging	1.00
R4706:Fbn1	UTSW	2	125,212,069 (GRCm39)	missense	probably benign	0.21
R4712:Fbn1	UTSW	2	125,183,236 (GRCm39)	missense	probably benign	0.12
R4783:Fbn1	UTSW	2	125,166,839 (GRCm39)	missense	probably damaging	1.00
R4784:Fbn1	UTSW	2	125,166,839 (GRCm39)	missense	probably damaging	1.00
R4785:Fbn1	UTSW	2	125,166,839 (GRCm39)	missense	probably damaging	1.00
R4793:Fbn1	UTSW	2	125,163,155 (GRCm39)	nonsense	probably null
R4838:Fbn1	UTSW	2	125,214,319 (GRCm39)	missense	probably benign	0.01
R4864:Fbn1	UTSW	2	125,214,317 (GRCm39)	missense	possibly damaging	0.92
R4887:Fbn1	UTSW	2	125,151,694 (GRCm39)	missense	probably damaging	1.00
R4942:Fbn1	UTSW	2	125,225,536 (GRCm39)	missense	possibly damaging	0.88
R4952:Fbn1	UTSW	2	125,159,454 (GRCm39)	missense	probably damaging	1.00
R5030:Fbn1	UTSW	2	125,254,624 (GRCm39)	missense	possibly damaging	0.51
R5044:Fbn1	UTSW	2	125,171,022 (GRCm39)	missense	probably damaging	0.97
R5057:Fbn1	UTSW	2	125,308,615 (GRCm39)	missense	probably benign	0.33
R5115:Fbn1	UTSW	2	125,174,303 (GRCm39)	missense	probably damaging	1.00
R5399:Fbn1	UTSW	2	125,174,253 (GRCm39)	missense	possibly damaging	0.69
R5498:Fbn1	UTSW	2	125,202,096 (GRCm39)	missense	probably damaging	1.00
R5526:Fbn1	UTSW	2	125,207,559 (GRCm39)	missense	possibly damaging	0.83
R5529:Fbn1	UTSW	2	125,215,870 (GRCm39)	missense	probably benign	0.01
R5602:Fbn1	UTSW	2	125,163,661 (GRCm39)	missense	possibly damaging	0.49
R5760:Fbn1	UTSW	2	125,203,167 (GRCm39)	missense	probably damaging	1.00
R5837:Fbn1	UTSW	2	125,221,054 (GRCm39)	splice site	probably null
R5955:Fbn1	UTSW	2	125,200,802 (GRCm39)	missense	probably damaging	1.00
R5980:Fbn1	UTSW	2	125,157,324 (GRCm39)	missense	probably damaging	0.98
R6039:Fbn1	UTSW	2	125,205,800 (GRCm39)	missense	probably damaging	1.00
R6039:Fbn1	UTSW	2	125,205,800 (GRCm39)	missense	probably damaging	1.00
R6058:Fbn1	UTSW	2	125,308,532 (GRCm39)	missense	possibly damaging	0.73
R6089:Fbn1	UTSW	2	125,163,145 (GRCm39)	missense	possibly damaging	0.55
R6136:Fbn1	UTSW	2	125,245,052 (GRCm39)	missense	possibly damaging	0.63
R6161:Fbn1	UTSW	2	125,211,721 (GRCm39)	nonsense	probably null
R6162:Fbn1	UTSW	2	125,202,147 (GRCm39)	missense	probably damaging	1.00
R6165:Fbn1	UTSW	2	125,174,283 (GRCm39)	missense	probably damaging	0.99
R6169:Fbn1	UTSW	2	125,177,409 (GRCm39)	critical splice acceptor site	probably null
R6221:Fbn1	UTSW	2	125,162,841 (GRCm39)	missense	probably benign	0.07
R6223:Fbn1	UTSW	2	125,254,591 (GRCm39)	missense	possibly damaging	0.86
R6225:Fbn1	UTSW	2	125,172,463 (GRCm39)	missense	probably damaging	1.00
R6238:Fbn1	UTSW	2	125,166,865 (GRCm39)	missense	probably damaging	0.98
R6329:Fbn1	UTSW	2	125,150,393 (GRCm39)	missense	possibly damaging	0.70
R6401:Fbn1	UTSW	2	125,188,370 (GRCm39)	missense	probably damaging	0.98
R6480:Fbn1	UTSW	2	125,177,338 (GRCm39)	missense	probably benign	0.05
R6513:Fbn1	UTSW	2	125,225,591 (GRCm39)	missense	probably damaging	1.00
R6530:Fbn1	UTSW	2	125,231,190 (GRCm39)	missense	probably damaging	0.99
R6595:Fbn1	UTSW	2	125,184,750 (GRCm39)	missense	possibly damaging	0.70
R6781:Fbn1	UTSW	2	125,158,958 (GRCm39)	missense	probably damaging	1.00
R6849:Fbn1	UTSW	2	125,163,611 (GRCm39)	missense	possibly damaging	0.82
R6860:Fbn1	UTSW	2	125,170,078 (GRCm39)	missense	probably damaging	1.00
R6960:Fbn1	UTSW	2	125,223,980 (GRCm39)	missense	probably benign	0.16
R7134:Fbn1	UTSW	2	125,223,969 (GRCm39)	missense	probably benign	0.03
R7241:Fbn1	UTSW	2	125,148,415 (GRCm39)	missense	possibly damaging	0.86
R7295:Fbn1	UTSW	2	125,177,407 (GRCm39)	missense	probably damaging	1.00
R7312:Fbn1	UTSW	2	125,308,594 (GRCm39)	missense	possibly damaging	0.53
R7322:Fbn1	UTSW	2	125,321,115 (GRCm39)	missense	possibly damaging	0.92
R7349:Fbn1	UTSW	2	125,157,321 (GRCm39)	missense	possibly damaging	0.84
R7365:Fbn1	UTSW	2	125,193,969 (GRCm39)	missense	probably damaging	0.97
R7392:Fbn1	UTSW	2	125,185,844 (GRCm39)	missense	probably damaging	1.00
R7442:Fbn1	UTSW	2	125,245,132 (GRCm39)	missense	possibly damaging	0.45
R7452:Fbn1	UTSW	2	125,347,375 (GRCm39)	missense	possibly damaging	0.53
R7453:Fbn1	UTSW	2	125,162,879 (GRCm39)	missense	possibly damaging	0.93
R7457:Fbn1	UTSW	2	125,193,667 (GRCm39)	missense	possibly damaging	0.90
R7458:Fbn1	UTSW	2	125,161,036 (GRCm39)	missense	probably benign	0.14
R7549:Fbn1	UTSW	2	125,185,947 (GRCm39)	missense	probably damaging	0.99
R7570:Fbn1	UTSW	2	125,239,772 (GRCm39)	missense	probably benign	0.29
R7666:Fbn1	UTSW	2	125,148,391 (GRCm39)	missense	probably damaging	1.00
R7723:Fbn1	UTSW	2	125,223,954 (GRCm39)	nonsense	probably null
R7745:Fbn1	UTSW	2	125,145,115 (GRCm39)	missense	probably benign	0.06
R7754:Fbn1	UTSW	2	125,321,200 (GRCm39)	splice site	probably null
R7780:Fbn1	UTSW	2	125,143,678 (GRCm39)	missense	probably benign	0.15
R7849:Fbn1	UTSW	2	125,151,405 (GRCm39)	missense	probably damaging	0.98
R7927:Fbn1	UTSW	2	125,225,656 (GRCm39)	missense	possibly damaging	0.82
R7942:Fbn1	UTSW	2	125,254,706 (GRCm39)	missense	possibly damaging	0.53
R7948:Fbn1	UTSW	2	125,183,219 (GRCm39)	missense	probably damaging	1.00
R7985:Fbn1	UTSW	2	125,143,798 (GRCm39)	missense	probably benign	0.01
R8051:Fbn1	UTSW	2	125,148,383 (GRCm39)	missense	possibly damaging	0.86
R8054:Fbn1	UTSW	2	125,187,938 (GRCm39)	missense	possibly damaging	0.93
R8058:Fbn1	UTSW	2	125,193,889 (GRCm39)	missense	possibly damaging	0.46
R8113:Fbn1	UTSW	2	125,319,489 (GRCm39)	missense	probably damaging	1.00
R8307:Fbn1	UTSW	2	125,347,402 (GRCm39)	missense	possibly damaging	0.53
R8472:Fbn1	UTSW	2	125,151,722 (GRCm39)	missense	probably damaging	1.00
R8690:Fbn1	UTSW	2	125,186,015 (GRCm39)	critical splice acceptor site	probably benign
R8724:Fbn1	UTSW	2	125,202,066 (GRCm39)	missense	probably damaging	0.98
R8856:Fbn1	UTSW	2	125,156,637 (GRCm39)	missense	probably damaging	1.00
R8916:Fbn1	UTSW	2	125,245,149 (GRCm39)	missense	possibly damaging	0.63
R8931:Fbn1	UTSW	2	125,202,095 (GRCm39)	missense	probably damaging	1.00
R8988:Fbn1	UTSW	2	125,212,726 (GRCm39)	missense	possibly damaging	0.88
R9127:Fbn1	UTSW	2	125,223,985 (GRCm39)	missense	possibly damaging	0.86
R9495:Fbn1	UTSW	2	125,160,984 (GRCm39)	missense	probably damaging	0.96
R9515:Fbn1	UTSW	2	125,207,551 (GRCm39)	missense	probably benign	0.03
R9557:Fbn1	UTSW	2	125,180,458 (GRCm39)	missense	probably damaging	0.99
R9597:Fbn1	UTSW	2	125,187,906 (GRCm39)	missense	probably benign
R9680:Fbn1	UTSW	2	125,310,484 (GRCm39)	missense	probably benign	0.29
R9723:Fbn1	UTSW	2	125,202,119 (GRCm39)	nonsense	probably null
R9734:Fbn1	UTSW	2	125,231,898 (GRCm39)	missense	probably benign	0.03
R9796:Fbn1	UTSW	2	125,158,941 (GRCm39)	missense	probably benign	0.19
X0019:Fbn1	UTSW	2	125,225,563 (GRCm39)	missense	possibly damaging	0.82
X0020:Fbn1	UTSW	2	125,211,260 (GRCm39)	missense	probably damaging	1.00
X0028:Fbn1	UTSW	2	125,184,718 (GRCm39)	critical splice donor site	probably null
X0067:Fbn1	UTSW	2	125,211,834 (GRCm39)	missense	possibly damaging	0.95
Z1088:Fbn1	UTSW	2	125,192,208 (GRCm39)	missense	probably damaging	0.99
Z1176:Fbn1	UTSW	2	125,229,270 (GRCm39)	missense	possibly damaging	0.51
Z1177:Fbn1	UTSW	2	125,231,151 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGCTTAAATGTGAAGACAAGACAC -3'
(R):5'- AATCTGTACCCAAATACTGCTGC -3'

Sequencing Primer
(F):5'- GACACACTTCAGGTTTAAAGTAGG -3'
(R):5'- ACTGCTGCATATTCAATATTGGCC -3'

Posted On

2022-01-20