Mutagenetix > Incidental Mutation

Incidental Mutation 'R0564:Fbln1'

46092

Institutional Source

Beutler Lab

Gene Symbol

Fbln1

Ensembl Gene

ENSMUSG00000006369

Gene Name

fibulin 1

Synonyms

MMRRC Submission

038755-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R0564 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85205949-85286535 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85227107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 154 (V154D)

Ref Sequence

ENSEMBL: ENSMUSP00000105058 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057410] [ENSMUST00000109432]

AlphaFold

Q08879

Predicted Effect

probably benign
Transcript: ENSMUST00000057410
AA Change: V154D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: V154D

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
ANATO	36	69	3.67e-9	SMART
ANATO	77	110	1.61e-5	SMART
ANATO	112	144	2.23e-8	SMART
EGF	181	217	2.32e-1	SMART
EGF_CA	218	263	5.08e-7	SMART
EGF_CA	264	309	5.44e-7	SMART
EGF_CA	310	357	9.62e-8	SMART
EGF_CA	358	400	1.11e-12	SMART
EGF_CA	401	442	4.77e-12	SMART
EGF_CA	443	482	1.98e-9	SMART
EGF_CA	483	526	4.7e-11	SMART
EGF	530	580	1.25e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109432
AA Change: V154D

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: V154D

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
ANATO	36	69	3.67e-9	SMART
ANATO	77	110	1.61e-5	SMART
ANATO	112	144	2.23e-8	SMART
EGF	181	217	2.32e-1	SMART
EGF_CA	218	263	5.08e-7	SMART
EGF_CA	264	309	5.44e-7	SMART
EGF_CA	310	357	9.62e-8	SMART
EGF_CA	358	400	1.11e-12	SMART
EGF_CA	401	442	4.77e-12	SMART
EGF_CA	443	482	1.98e-9	SMART
EGF_CA	483	526	4.7e-11	SMART
EGF_CA	527	571	7.18e-7	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruption of this gene develop problems with spontaneous bleeding as embryos. Most die within the first two days of life. Those that survive this period develop normally and eventually recover from their early developmental abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	A	G	10: 80,344,847	V127A	probably damaging	Het
Alox12	T	A	11: 70,252,836	D202V	probably damaging	Het
Ankib1	A	G	5: 3,729,655	Y405H	probably damaging	Het
Apbb2	A	T	5: 66,452,250	M18K	probably damaging	Het
Atad2	C	A	15: 58,125,833		probably benign	Het
BC117090	A	T	16: 36,322,984	Y34*	probably null	Het
Birc6	T	A	17: 74,625,243		probably benign	Het
Ccdc126	T	C	6: 49,334,142	M28T	possibly damaging	Het
Cdc16	A	T	8: 13,781,618	D617V	probably damaging	Het
Cep135	G	A	5: 76,615,710	E516K	probably damaging	Het
Cep135	G	T	5: 76,638,949	M1081I	probably benign	Het
Col6a3	A	C	1: 90,807,734	V731G	probably damaging	Het
Cwc27	C	A	13: 104,661,357	E365*	probably null	Het
D230025D16Rik	T	A	8: 105,239,971		probably benign	Het
Dip2b	C	A	15: 100,162,719	Y258*	probably null	Het
Dnah17	A	G	11: 118,082,981	V1900A	probably damaging	Het
Dpysl2	A	T	14: 66,805,446		probably benign	Het
Dync2h1	A	T	9: 7,139,432	L1401Q	probably damaging	Het
Esf1	A	T	2: 140,158,586	Y427N	possibly damaging	Het
Frem2	A	G	3: 53,656,109	F326L	probably damaging	Het
Gm4922	T	A	10: 18,784,065	N303I	possibly damaging	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Iigp1	G	A	18: 60,390,451	V214M	probably damaging	Het
Luzp2	A	G	7: 54,835,962	K2E	probably damaging	Het
Mcc	A	G	18: 44,468,507	L410P	probably damaging	Het
Mfn2	A	G	4: 147,883,255	F452S	probably damaging	Het
Mib2	C	T	4: 155,659,460	G42S	probably damaging	Het
Micu2	A	G	14: 57,919,374	F335L	possibly damaging	Het
Mpp3	T	G	11: 102,005,347	K450T	possibly damaging	Het
Mtmr4	T	A	11: 87,598,888	V79E	probably damaging	Het
Nlrp4b	A	G	7: 10,714,658	I263V	probably benign	Het
Olfr551	T	C	7: 102,588,531	I71V	probably benign	Het
Olfr809	T	G	10: 129,776,136	V74G	probably damaging	Het
Pdk1	G	A	2: 71,880,039	W113*	probably null	Het
Phxr4	A	T	9: 13,431,697		probably benign	Het
Rad51ap2	T	A	12: 11,457,896	H606Q	probably benign	Het
Ralgapa1	A	T	12: 55,782,885	I187K	possibly damaging	Het
Rps27	A	G	3: 90,212,923		probably benign	Het
Sema3e	T	A	5: 14,236,085		probably null	Het
Sh2d3c	G	A	2: 32,753,052	C749Y	probably damaging	Het
Siah2	T	C	3: 58,676,235	D210G	probably benign	Het
Smap2	G	A	4: 120,976,977	P155S	probably benign	Het
Snrk	C	T	9: 122,166,544	T463M	possibly damaging	Het
Tm9sf3	A	G	19: 41,245,525		probably benign	Het
Tmem132d	C	T	5: 127,784,778	E760K	probably damaging	Het
Tmem184c	A	T	8: 77,606,160		probably null	Het
Tmem235	A	T	11: 117,860,848	I33F	possibly damaging	Het
Tmem267	A	T	13: 119,492,639		probably null	Het
Top1	G	A	2: 160,714,265	R548Q	probably damaging	Het
Trio	T	C	15: 27,805,822	N527D	probably damaging	Het
Upf3a	A	G	8: 13,795,656	K252E	probably benign	Het

Other mutations in Fbln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Fbln1	APN	15	85227037	missense	probably benign	0.00
IGL01017:Fbln1	APN	15	85244189	missense	possibly damaging	0.94
IGL02514:Fbln1	APN	15	85244262	nonsense	probably null
IGL02693:Fbln1	APN	15	85229574	missense	probably benign	0.00
IGL02734:Fbln1	APN	15	85226981	missense	probably damaging	1.00
IGL02964:Fbln1	APN	15	85231462	missense	probably damaging	1.00
IGL03176:Fbln1	APN	15	85244306	missense	possibly damaging	0.69
IGL03274:Fbln1	APN	15	85232678	critical splice donor site	probably null
R0090:Fbln1	UTSW	15	85224288	missense	possibly damaging	0.94
R0148:Fbln1	UTSW	15	85230826	missense	probably damaging	0.97
R0393:Fbln1	UTSW	15	85227076	missense	probably damaging	0.99
R1276:Fbln1	UTSW	15	85229590	missense	probably damaging	1.00
R1592:Fbln1	UTSW	15	85231464	missense	probably benign	0.00
R1687:Fbln1	UTSW	15	85227106	missense	probably benign	0.02
R2312:Fbln1	UTSW	15	85263348	missense	probably benign	0.28
R2363:Fbln1	UTSW	15	85227140	critical splice donor site	probably null
R3082:Fbln1	UTSW	15	85265253	missense	probably benign	0.25
R3083:Fbln1	UTSW	15	85265253	missense	probably benign	0.25
R3751:Fbln1	UTSW	15	85227078	nonsense	probably null
R3752:Fbln1	UTSW	15	85227078	nonsense	probably null
R3753:Fbln1	UTSW	15	85227078	nonsense	probably null
R4028:Fbln1	UTSW	15	85227116	missense	probably benign	0.05
R4406:Fbln1	UTSW	15	85231556	critical splice donor site	probably null
R4407:Fbln1	UTSW	15	85231556	critical splice donor site	probably null
R4408:Fbln1	UTSW	15	85231556	critical splice donor site	probably null
R4612:Fbln1	UTSW	15	85238559	missense	probably benign	0.00
R4811:Fbln1	UTSW	15	85226966	critical splice acceptor site	probably null
R5022:Fbln1	UTSW	15	85237626	missense	probably damaging	0.99
R5121:Fbln1	UTSW	15	85237671	missense	probably damaging	1.00
R7231:Fbln1	UTSW	15	85206152	missense	unknown
R7285:Fbln1	UTSW	15	85237628	missense	probably benign	0.01
R7492:Fbln1	UTSW	15	85227061	missense	probably damaging	1.00
R7742:Fbln1	UTSW	15	85240716	missense	probably damaging	1.00
R8100:Fbln1	UTSW	15	85285156	missense	probably damaging	1.00
R8379:Fbln1	UTSW	15	85232572	missense	probably damaging	1.00
R9018:Fbln1	UTSW	15	85242014	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-06-11