Mutagenetix > Incidental Mutation

Incidental Mutation 'R0393:Fbln1'

31818

Institutional Source

Beutler Lab

Gene Symbol

Fbln1

Ensembl Gene

ENSMUSG00000006369

Gene Name

fibulin 1

Synonyms

MMRRC Submission

038599-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R0393 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85090150-85170495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85111277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 144 (C144R)

Ref Sequence

ENSEMBL: ENSMUSP00000105058 (fasta)

Gene Model

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

AlphaFold

Q08879

Predicted Effect

probably damaging
Transcript: ENSMUST00000057410
AA Change: C144R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: C144R

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 damaging
Transcript: ENSMUST00000109432
AA Change: C144R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: C144R

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

0.9651

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.3%
20x: 92.9%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	C	T	6: 142,591,604 (GRCm39)		probably benign	Het
Akr1b7	T	G	6: 34,392,335 (GRCm39)	Y49*	probably null	Het
Ankrd10	G	T	8: 11,685,482 (GRCm39)	R46S	possibly damaging	Het
Atp13a5	A	G	16: 29,085,681 (GRCm39)		probably benign	Het
Baz1a	A	G	12: 54,965,221 (GRCm39)		probably null	Het
Bicd2	C	T	13: 49,533,346 (GRCm39)	T644M	probably damaging	Het
Ccr9	A	T	9: 123,609,035 (GRCm39)	H239L	probably benign	Het
Cd180	A	T	13: 102,842,408 (GRCm39)	N485Y	probably damaging	Het
Ces1d	T	A	8: 93,919,400 (GRCm39)	S131C	probably damaging	Het
Cnpy2	T	A	10: 128,162,076 (GRCm39)	S116R	probably benign	Het
Crym	T	C	7: 119,788,972 (GRCm39)	K285R	probably benign	Het
Cyp2a4	A	T	7: 26,012,293 (GRCm39)	I359F	possibly damaging	Het
Cyp2b10	T	A	7: 25,614,359 (GRCm39)		probably benign	Het
Dcpp3	A	T	17: 24,136,925 (GRCm39)		probably benign	Het
Dnah8	T	A	17: 30,927,364 (GRCm39)	I1340K	probably benign	Het
Gm1553	T	C	10: 82,328,010 (GRCm39)	R66G	unknown	Het
Il10rb	G	A	16: 91,208,898 (GRCm39)	V103I	probably benign	Het
Irak1bp1	T	A	9: 82,728,614 (GRCm39)	W182R	probably benign	Het
Kcna3	T	C	3: 106,944,315 (GRCm39)	S193P	probably damaging	Het
Kif14	C	T	1: 136,410,156 (GRCm39)	H628Y	probably damaging	Het
Krt31	A	G	11: 99,941,079 (GRCm39)	L77P	probably damaging	Het
Krt36	C	T	11: 99,994,940 (GRCm39)	A211T	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lmo7	A	G	14: 102,137,892 (GRCm39)	T743A	probably benign	Het
Lyst	C	T	13: 13,821,664 (GRCm39)	T1346M	probably benign	Het
Mapkbp1	T	A	2: 119,843,384 (GRCm39)		probably null	Het
Mif	T	C	10: 75,695,638 (GRCm39)	D55G	probably benign	Het
Mlh3	G	T	12: 85,314,361 (GRCm39)	C608*	probably null	Het
Mlip	A	T	9: 77,146,859 (GRCm39)	C85S	probably benign	Het
Mug1	T	C	6: 121,826,809 (GRCm39)	S211P	possibly damaging	Het
Mybl2	T	A	2: 162,903,528 (GRCm39)		probably benign	Het
Myh8	C	T	11: 67,196,843 (GRCm39)		probably benign	Het
Nanos1	A	G	19: 60,745,368 (GRCm39)	Y222C	probably damaging	Het
Or10ag52	A	T	2: 87,044,037 (GRCm39)	Y267F	probably benign	Het
Or2n1e	G	T	17: 38,585,774 (GRCm39)	M37I	probably benign	Het
Or5d16	T	C	2: 87,773,909 (GRCm39)	D21G	possibly damaging	Het
Papolb	A	G	5: 142,515,211 (GRCm39)	V144A	probably damaging	Het
Pctp	A	G	11: 89,876,945 (GRCm39)	S185P	probably benign	Het
Plod1	A	T	4: 148,003,298 (GRCm39)	L509Q	probably null	Het
Ppp1r13b	C	A	12: 111,802,122 (GRCm39)	M290I	probably benign	Het
Ralb	G	C	1: 119,405,856 (GRCm39)		probably null	Het
Rxylt1	T	C	10: 121,931,841 (GRCm39)		probably benign	Het
Slc4a8	T	A	15: 100,672,519 (GRCm39)	D18E	probably damaging	Het
Speg	A	C	1: 75,400,568 (GRCm39)	H2576P	possibly damaging	Het
Spock1	T	C	13: 57,588,349 (GRCm39)	D241G	probably damaging	Het
Tcam1	T	A	11: 106,175,040 (GRCm39)	V165E	probably benign	Het
Thbs1	T	A	2: 117,943,472 (GRCm39)	V30E	possibly damaging	Het
Tll2	A	G	19: 41,077,265 (GRCm39)	Y834H	possibly damaging	Het
Trpm6	G	A	19: 18,756,008 (GRCm39)	D84N	probably damaging	Het
Ubr1	T	A	2: 120,737,427 (GRCm39)	Q1039L	probably damaging	Het
Ubr4	A	G	4: 139,138,171 (GRCm39)		probably benign	Het
Vmn1r74	T	C	7: 11,581,242 (GRCm39)	Y181H	possibly damaging	Het
Vmn2r13	T	C	5: 109,304,395 (GRCm39)	T679A	probably benign	Het
Vmn2r91	A	T	17: 18,325,712 (GRCm39)	Y110F	probably damaging	Het
Zbtb40	A	C	4: 136,745,842 (GRCm39)	S64A	probably benign	Het
Zfp184	T	A	13: 22,131,252 (GRCm39)		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
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
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

PCR Primer
(F):5'- AAAGCAGTCCTACTAGGTGCCAGG -3'
(R):5'- acccacagGAAGGGTAAGTCACAG -3'

Sequencing Primer
(F):5'- GTAGGTTGCTTTCCAAACAGAC -3'
(R):5'- GTAAGTCACAGACATGCACGTC -3'

Posted On

2013-04-24