Mutagenetix > Incidental Mutations

Incidental Mutation 'R1687:Fbln1'

189456

Institutional Source

Beutler Lab

Gene Symbol

Fbln1

Ensembl Gene

ENSMUSG00000006369

Gene Name

fibulin 1

Synonyms

MMRRC Submission

039720-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.758) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85205949-85286535 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85227106 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 154 (V154I)

Ref Sequence

ENSEMBL: ENSMUSP00000105058 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057410
AA Change: V154I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: V154I

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: V154I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: V154I

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,293,888	F931I	probably benign	Het
Alox15	T	A	11: 70,349,918	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,537	V268D	probably benign	Het
Armc9	A	G	1: 86,156,955	M1V	probably null	Het
BB287469	A	G	12: 87,819,718	D133G	unknown	Het
Brca1	C	T	11: 101,489,840	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,736,759	V138A	probably benign	Het
Camsap1	A	G	2: 25,939,615	F699S	probably damaging	Het
Ccm2	A	G	11: 6,585,118	R67G	probably damaging	Het
Cdk16	G	A	X: 20,696,659		probably null	Het
Cep85	T	C	4: 134,148,013	H546R	probably benign	Het
Cfap54	T	C	10: 92,932,640	D207G	probably damaging	Het
Cldn9	G	T	17: 23,683,076	R192S	probably benign	Het
Crybb3	A	G	5: 113,079,767	S63P	probably damaging	Het
Cux1	A	G	5: 136,312,669	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 32,910,407		probably benign	Het
Dnah3	A	T	7: 120,045,786		probably null	Het
Eml6	G	A	11: 29,833,187	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,617,366	V610A	probably benign	Het
Fam234a	T	C	17: 26,215,308	Y333C	probably damaging	Het
Frem2	A	T	3: 53,653,952	W1045R	probably benign	Het
Fubp1	A	G	3: 152,228,201		probably benign	Het
Gja3	T	A	14: 57,036,876	N13I	probably damaging	Het
Gpr20	C	A	15: 73,695,902	V213L	probably benign	Het
Grk5	T	C	19: 61,076,783	I295T	probably damaging	Het
Gucy1b1	A	G	3: 82,038,042	F430L	probably damaging	Het
Gzmk	T	A	13: 113,173,928	I119L	probably benign	Het
Hadh	T	C	3: 131,245,249	I153V	probably benign	Het
Hsfy2	T	C	1: 56,636,853	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,775,824	I560T	probably benign	Het
Igdcc4	T	C	9: 65,131,663	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,632,872	D216G	probably benign	Het
Klc2	G	A	19: 5,111,654	P303S	probably damaging	Het
Lama5	C	T	2: 180,194,066	V1192I	probably benign	Het
Mon2	A	G	10: 123,026,124	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,672,478	L96Q	probably damaging	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,520,585	I726T	probably damaging	Het
Ndnf	A	T	6: 65,703,423	T229S	probably benign	Het
Npas3	A	T	12: 54,048,875		probably null	Het
Nrap	C	T	19: 56,355,529	E729K	probably damaging	Het
Nsun2	T	A	13: 69,627,597	F387I	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 164,044,306	T452M	probably benign	Het
Pcdh10	T	C	3: 45,380,015	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,700,019	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,884,704		probably benign	Het
Pkp2	T	C	16: 16,268,709		probably null	Het
Ppard	A	G	17: 28,297,180	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,290,533	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,270,279	T287A	probably damaging	Het
Sema4b	T	C	7: 80,219,262	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,982,157	I640N	probably damaging	Het
Smurf2	C	A	11: 106,836,070		probably null	Het
Spag5	T	C	11: 78,304,929	V354A	probably benign	Het
Sptb	T	C	12: 76,603,699	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,981,250	L22F	probably benign	Het
Sugp2	T	C	8: 70,242,634	S86P	probably damaging	Het
Tnk1	T	C	11: 69,856,473	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,939,626	I541F	possibly damaging	Het
Trim36	G	T	18: 46,188,657	H108N	possibly damaging	Het
Ttn	T	C	2: 76,870,907		probably benign	Het
Usp28	T	A	9: 49,024,017	S89R	probably benign	Het
Vmn2r121	T	C	X: 124,132,791	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,940,818	Y630F	probably benign	Het
Washc2	T	A	6: 116,256,712	S900T	probably benign	Het
Wdr72	A	G	9: 74,210,199	N731S	probably benign	Het
Xrra1	T	A	7: 99,876,244	F123L	probably damaging	Het
Zfp648	A	G	1: 154,204,242	D49G	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
R0564:Fbln1	UTSW	15	85227107	missense	probably benign	0.07
R1276:Fbln1	UTSW	15	85229590	missense	probably damaging	1.00
R1592:Fbln1	UTSW	15	85231464	missense	probably benign	0.00
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

Predicted Primers

Posted On

2014-05-14