Mutagenetix > Incidental Mutation

Incidental Mutation 'R4407:Fbln1'

327732

Institutional Source

Beutler Lab

Gene Symbol

Fbln1

Ensembl Gene

ENSMUSG00000006369

Gene Name

fibulin 1

Synonyms

MMRRC Submission

041689-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R4407 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85090150-85170495 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 85115757 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000105058 (fasta)

Gene Model

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

AlphaFold

Q08879

Predicted Effect

probably null
Transcript: ENSMUST00000057410

SMART Domains

Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369

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 null
Transcript: ENSMUST00000109432

SMART Domains

Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369

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

0.9487

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (61/61)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830035A12Rik	T	C	11: 107,422,881 (GRCm39)		noncoding transcript	Het
Bbs10	A	G	10: 111,135,720 (GRCm39)	T278A	probably benign	Het
Bcl6b	A	G	11: 70,116,929 (GRCm39)	L450P	probably damaging	Het
Braf	T	G	6: 39,592,654 (GRCm39)	K674Q	probably damaging	Het
Cep112	C	T	11: 108,410,027 (GRCm39)	T481I	possibly damaging	Het
Cep135	T	A	5: 76,772,514 (GRCm39)	M633K	probably benign	Het
Cpped1	T	C	16: 11,623,285 (GRCm39)	Y278C	probably damaging	Het
Depdc5	T	A	5: 33,061,878 (GRCm39)		probably null	Het
Dolpp1	C	T	2: 30,286,464 (GRCm39)	A128V	possibly damaging	Het
E2f5	T	A	3: 14,668,823 (GRCm39)	D238E	probably benign	Het
Fat4	A	T	3: 39,012,689 (GRCm39)	D2328V	probably benign	Het
Fkbp3	T	C	12: 65,116,778 (GRCm39)	T53A	probably damaging	Het
Flg2	G	T	3: 93,122,176 (GRCm39)	G1449C	unknown	Het
G530012D18Rik	G	C	1: 85,504,923 (GRCm39)		probably benign	Het
Glyctk	A	T	9: 106,034,307 (GRCm39)		probably benign	Het
Gm6430	T	C	1: 96,953,297 (GRCm39)		noncoding transcript	Het
Golga1	C	A	2: 38,909,653 (GRCm39)		probably null	Het
Gucy2g	A	T	19: 55,226,269 (GRCm39)	F216I	probably benign	Het
L3mbtl3	A	G	10: 26,189,782 (GRCm39)	V494A	unknown	Het
Lama2	AATCAGACAGGAG	A	10: 27,088,124 (GRCm39)		probably benign	Het
Lemd3	A	T	10: 120,761,335 (GRCm39)	L907Q	possibly damaging	Het
Lrp2	A	T	2: 69,332,861 (GRCm39)	V1552D	probably damaging	Het
Map3k12	T	C	15: 102,413,837 (GRCm39)	T45A	probably damaging	Het
Mycbp2	A	T	14: 103,524,664 (GRCm39)	D665E	probably damaging	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Or4p7	A	T	2: 88,222,427 (GRCm39)	M279L	probably benign	Het
Pcdhac2	G	T	18: 37,277,499 (GRCm39)	V160L	probably benign	Het
Pcnt	T	C	10: 76,210,704 (GRCm39)	E2473G	possibly damaging	Het
Pitpnm2	T	A	5: 124,290,678 (GRCm39)	I3L	possibly damaging	Het
Prkd3	C	A	17: 79,290,987 (GRCm39)	W176L	probably damaging	Het
Prpf39	C	T	12: 65,103,040 (GRCm39)	A438V	probably damaging	Het
Rpgrip1	T	A	14: 52,384,856 (GRCm39)	F655I	probably damaging	Het
Rrp12	T	C	19: 41,880,990 (GRCm39)	Y147C	probably damaging	Het
Sec23b	A	T	2: 144,416,638 (GRCm39)	N429Y	possibly damaging	Het
Slc2a10	T	A	2: 165,356,684 (GRCm39)	S115T	probably damaging	Het
Spg11	A	C	2: 121,905,813 (GRCm39)	D1277E	probably benign	Het
Sspo	A	G	6: 48,437,454 (GRCm39)	D1279G	probably damaging	Het
St18	T	C	1: 6,898,061 (GRCm39)	I621T	probably benign	Het
Tbc1d31	T	A	15: 57,783,438 (GRCm39)	D112E	possibly damaging	Het
Tdpoz6	C	A	3: 93,599,419 (GRCm39)	V317L	probably benign	Het
Tgm4	A	T	9: 122,885,595 (GRCm39)	D379V	probably damaging	Het
Thyn1	A	T	9: 26,914,893 (GRCm39)	D15V	possibly damaging	Het
Timd6	A	G	11: 46,468,207 (GRCm39)	T94A	probably damaging	Het
Tm4sf19	T	C	16: 32,226,712 (GRCm39)	V167A	possibly damaging	Het
Trim38	A	C	13: 23,975,474 (GRCm39)	Q471P	probably benign	Het
Trmt1	T	A	8: 85,424,384 (GRCm39)		probably benign	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Usp9y	T	C	Y: 1,336,375 (GRCm39)	I1500V	probably benign	Het
Vgll4	C	T	6: 114,867,573 (GRCm39)		probably null	Het
Vmn1r173	T	A	7: 23,402,441 (GRCm39)	N225K	probably damaging	Het
Vmn2r22	C	T	6: 123,614,913 (GRCm39)	G226R	probably damaging	Het
Wnk3	C	A	X: 150,016,209 (GRCm39)	P555Q	probably benign	Het
Yes1	T	G	5: 32,797,929 (GRCm39)	Y83D	possibly damaging	Het
Zdhhc15	G	A	X: 103,604,294 (GRCm39)	R322*	probably null	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
R1687:Fbln1	UTSW	15	85,111,307 (GRCm39)	missense	probably benign	0.02
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
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

PCR Primer
(F):5'- GCTGGTTACTTCTGCATCGC -3'
(R):5'- TCAAATGGGCTAGTGTCACTAAC -3'

Sequencing Primer
(F):5'- CGCCTTAATCTCTCTAGATATCAATG -3'
(R):5'- ATGGGCTAGTGTCACTAACTCAGC -3'

Posted On

2015-07-07