Mutagenetix > Incidental Mutation

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

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85090150-85170495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85111307 bp (GRCm39)

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]

AlphaFold

Q08879

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: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fam234a	T	C	17: 26,434,282 (GRCm39)	Y333C	probably damaging	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	probably benign	Het

Other mutations in Fbln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00573:Fbln1	APN	15	85,111,238 (GRCm39)	missense	probably benign	0.00
IGL01017:Fbln1	APN	15	85,128,390 (GRCm39)	missense	possibly damaging	0.94
IGL02514:Fbln1	APN	15	85,128,463 (GRCm39)	nonsense	probably null
IGL02693:Fbln1	APN	15	85,113,775 (GRCm39)	missense	probably benign	0.00
IGL02734:Fbln1	APN	15	85,111,182 (GRCm39)	missense	probably damaging	1.00
IGL02964:Fbln1	APN	15	85,115,663 (GRCm39)	missense	probably damaging	1.00
IGL03176:Fbln1	APN	15	85,128,507 (GRCm39)	missense	possibly damaging	0.69
IGL03274:Fbln1	APN	15	85,116,879 (GRCm39)	critical splice donor site	probably null
R0090:Fbln1	UTSW	15	85,108,489 (GRCm39)	missense	possibly damaging	0.94
R0148:Fbln1	UTSW	15	85,115,027 (GRCm39)	missense	probably damaging	0.97
R0393:Fbln1	UTSW	15	85,111,277 (GRCm39)	missense	probably damaging	0.99
R0564:Fbln1	UTSW	15	85,111,308 (GRCm39)	missense	probably benign	0.07
R1276:Fbln1	UTSW	15	85,113,791 (GRCm39)	missense	probably damaging	1.00
R1592:Fbln1	UTSW	15	85,115,665 (GRCm39)	missense	probably benign	0.00
R2312:Fbln1	UTSW	15	85,147,549 (GRCm39)	missense	probably benign	0.28
R2363:Fbln1	UTSW	15	85,111,341 (GRCm39)	critical splice donor site	probably null
R3082:Fbln1	UTSW	15	85,149,454 (GRCm39)	missense	probably benign	0.25
R3083:Fbln1	UTSW	15	85,149,454 (GRCm39)	missense	probably benign	0.25
R3751:Fbln1	UTSW	15	85,111,279 (GRCm39)	nonsense	probably null
R3752:Fbln1	UTSW	15	85,111,279 (GRCm39)	nonsense	probably null
R3753:Fbln1	UTSW	15	85,111,279 (GRCm39)	nonsense	probably null
R4028:Fbln1	UTSW	15	85,111,317 (GRCm39)	missense	probably benign	0.05
R4406:Fbln1	UTSW	15	85,115,757 (GRCm39)	critical splice donor site	probably null
R4407:Fbln1	UTSW	15	85,115,757 (GRCm39)	critical splice donor site	probably null
R4408:Fbln1	UTSW	15	85,115,757 (GRCm39)	critical splice donor site	probably null
R4612:Fbln1	UTSW	15	85,122,760 (GRCm39)	missense	probably benign	0.00
R4811:Fbln1	UTSW	15	85,111,167 (GRCm39)	critical splice acceptor site	probably null
R5022:Fbln1	UTSW	15	85,121,827 (GRCm39)	missense	probably damaging	0.99
R5121:Fbln1	UTSW	15	85,121,872 (GRCm39)	missense	probably damaging	1.00
R7231:Fbln1	UTSW	15	85,090,353 (GRCm39)	missense	unknown
R7285:Fbln1	UTSW	15	85,121,829 (GRCm39)	missense	probably benign	0.01
R7492:Fbln1	UTSW	15	85,111,262 (GRCm39)	missense	probably damaging	1.00
R7742:Fbln1	UTSW	15	85,124,917 (GRCm39)	missense	probably damaging	1.00
R8100:Fbln1	UTSW	15	85,169,357 (GRCm39)	missense	probably damaging	1.00
R8379:Fbln1	UTSW	15	85,116,773 (GRCm39)	missense	probably damaging	1.00
R9018:Fbln1	UTSW	15	85,126,215 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-05-14