Mutagenetix > Incidental Mutation

Incidental Mutation 'R9288:Fbln5'

704103

Institutional Source

Beutler Lab

Gene Symbol

Fbln5

Ensembl Gene

ENSMUSG00000021186

Gene Name

fibulin 5

Synonyms

EVEC

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R9288 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101712824-101785314 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 101734728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 181 (C181*)

Ref Sequence

ENSEMBL: ENSMUSP00000021603 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]

AlphaFold

Q9WVH9

Predicted Effect

probably null
Transcript: ENSMUST00000021603
AA Change: C181*

SMART Domains

Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: C181*

Domain	Start	End	E-Value	Type
EGF_like	42	86	4.71e-1	SMART
EGF_CA	127	167	4.81e-8	SMART
EGF_CA	168	206	2.31e-10	SMART
EGF_CA	207	246	5.31e-10	SMART
EGF_CA	247	287	2.22e-12	SMART
EGF_like	288	333	8.14e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000222587
AA Change: C194*

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,704,444 (GRCm39)	D66G	probably benign	Het
Acot7	T	A	4: 152,291,263 (GRCm39)	H76Q	probably damaging	Het
Acsf2	C	T	11: 94,464,044 (GRCm39)	V47M	probably benign	Het
Agmat	T	C	4: 141,474,391 (GRCm39)	S91P	probably damaging	Het
Apba1	A	G	19: 23,923,145 (GRCm39)	*843W	probably null	Het
Apcdd1	C	T	18: 63,055,731 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,051,368 (GRCm39)	I437T	possibly damaging	Het
Bbs12	C	T	3: 37,374,712 (GRCm39)	L387F	probably damaging	Het
BC028528	T	C	3: 95,799,227 (GRCm39)	I6V	probably benign	Het
C6	A	C	15: 4,835,532 (GRCm39)	K770T		Het
Cacna1g	T	A	11: 94,308,897 (GRCm39)	K1669*	probably null	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Cit	C	T	5: 116,123,512 (GRCm39)	T1436I	probably damaging	Het
Col14a1	T	A	15: 55,286,918 (GRCm39)	V913E	unknown	Het
Dlgap4	G	T	2: 156,546,514 (GRCm39)	R394L	possibly damaging	Het
Eml6	T	G	11: 29,788,641 (GRCm39)		probably null	Het
Epb41l2	A	G	10: 25,355,653 (GRCm39)	T486A	possibly damaging	Het
Flnb	A	C	14: 7,904,498 (GRCm38)	D967A	probably benign	Het
Glyatl3	A	G	17: 41,221,016 (GRCm39)	V117A	probably benign	Het
Gm4553	GCAGCCCCCACAGGAACTACAACCACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGA	GCAGCCCCCACAGGA	7: 141,719,025 (GRCm39)		probably benign	Het
Gpa33	G	A	1: 165,980,304 (GRCm39)	M122I	probably benign	Het
Gtf2ird2	A	G	5: 134,221,571 (GRCm39)	E58G	possibly damaging	Het
Hdlbp	T	C	1: 93,336,773 (GRCm39)	E1125G	probably benign	Het
Hook1	C	T	4: 95,901,505 (GRCm39)	R488C	probably damaging	Het
Isx	G	T	8: 75,619,439 (GRCm39)	A197S	probably benign	Het
Klhl10	G	T	11: 100,347,719 (GRCm39)	A592S	probably benign	Het
Kmt2c	A	T	5: 25,497,907 (GRCm39)	D3949E	probably damaging	Het
Kmt2c	A	T	5: 25,554,860 (GRCm39)	I1258K	probably benign	Het
Lpin3	C	A	2: 160,745,552 (GRCm39)	N618K	probably damaging	Het
Lrrc9	T	A	12: 72,522,858 (GRCm39)	D701E	probably benign	Het
Mex3a	T	A	3: 88,443,458 (GRCm39)	M178K	possibly damaging	Het
Mex3b	T	C	7: 82,518,159 (GRCm39)	V158A	probably benign	Het
Myh7	A	T	14: 55,222,932 (GRCm39)	F758I	probably benign	Het
Neb	T	G	2: 52,051,403 (GRCm39)	N6626H	probably damaging	Het
Nkd2	G	T	13: 73,995,177 (GRCm39)		probably benign	Het
Nsmaf	T	C	4: 6,414,976 (GRCm39)	K630R	probably benign	Het
Obscn	A	T	11: 58,976,049 (GRCm39)	F2026Y	probably benign	Het
Olr1	T	C	6: 129,470,202 (GRCm39)		probably benign	Het
Osbpl1a	A	G	18: 12,904,402 (GRCm39)	L589P	probably damaging	Het
Pcsk5	T	C	19: 17,814,345 (GRCm39)	K58E	probably benign	Het
Poll	T	C	19: 45,547,281 (GRCm39)	I64V	probably benign	Het
Prdm10	A	G	9: 31,252,674 (GRCm39)	E469G	possibly damaging	Het
Ptprb	T	A	10: 116,155,353 (GRCm39)	N415K	probably benign	Het
Qrich2	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG	11: 116,348,367 (GRCm39)		probably benign	Het
Rft1	A	T	14: 30,383,415 (GRCm39)	K152*	probably null	Het
Rnf180	CGAGG	CGAGGAGG	13: 105,386,781 (GRCm39)		probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,119 (GRCm39)		probably benign	Het
Sfpq	T	C	4: 126,916,627 (GRCm39)	S275P	probably damaging	Het
Slit1	A	T	19: 41,613,144 (GRCm39)		probably benign	Het
Sorl1	A	G	9: 41,952,927 (GRCm39)	F705L	probably damaging	Het
Spata17	A	G	1: 186,844,756 (GRCm39)	V281A	possibly damaging	Het
Sulf1	G	A	1: 12,856,827 (GRCm39)	R26Q	probably benign	Het
Tbc1d4	T	C	14: 101,692,308 (GRCm39)	Y1052C	probably damaging	Het
Tgfbr2	T	C	9: 115,939,149 (GRCm39)	D251G	probably benign	Het
Tmem88b	A	T	4: 155,868,733 (GRCm39)	W172R	probably damaging	Het
Vdac2	C	A	14: 21,881,962 (GRCm39)	P7T	probably benign	Het
Vmn2r112	A	G	17: 22,822,323 (GRCm39)	K334E	probably damaging	Het
Vmn2r8	A	T	5: 108,950,185 (GRCm39)	S221T	probably benign	Het
Zfp608	G	T	18: 55,033,341 (GRCm39)	N397K	probably benign	Het

Other mutations in Fbln5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Fbln5	APN	12	101,776,175 (GRCm39)	missense	probably damaging	0.98
IGL01357:Fbln5	APN	12	101,717,146 (GRCm39)	missense	probably damaging	1.00
IGL01860:Fbln5	APN	12	101,776,128 (GRCm39)	missense	probably damaging	1.00
IGL02567:Fbln5	APN	12	101,728,059 (GRCm39)	critical splice donor site	probably null
BB004:Fbln5	UTSW	12	101,784,647 (GRCm39)	start gained	probably benign
BB014:Fbln5	UTSW	12	101,784,647 (GRCm39)	start gained	probably benign
R0368:Fbln5	UTSW	12	101,775,973 (GRCm39)	critical splice donor site	probably null
R1080:Fbln5	UTSW	12	101,717,131 (GRCm39)	missense	possibly damaging	0.90
R1606:Fbln5	UTSW	12	101,731,457 (GRCm39)	missense	probably benign	0.04
R2107:Fbln5	UTSW	12	101,737,528 (GRCm39)	missense	probably damaging	1.00
R2138:Fbln5	UTSW	12	101,728,179 (GRCm39)	missense	probably benign	0.32
R3694:Fbln5	UTSW	12	101,731,511 (GRCm39)	missense	probably benign	0.00
R3918:Fbln5	UTSW	12	101,717,050 (GRCm39)	missense	probably damaging	1.00
R4166:Fbln5	UTSW	12	101,723,618 (GRCm39)	missense	probably damaging	1.00
R4626:Fbln5	UTSW	12	101,727,086 (GRCm39)	missense	probably damaging	1.00
R5004:Fbln5	UTSW	12	101,727,080 (GRCm39)	missense	probably damaging	0.99
R5264:Fbln5	UTSW	12	101,723,703 (GRCm39)	missense	possibly damaging	0.94
R5364:Fbln5	UTSW	12	101,737,623 (GRCm39)	missense	probably damaging	0.98
R5767:Fbln5	UTSW	12	101,731,468 (GRCm39)	missense	probably damaging	0.97
R5889:Fbln5	UTSW	12	101,731,485 (GRCm39)	missense	probably damaging	1.00
R5914:Fbln5	UTSW	12	101,727,002 (GRCm39)	missense	possibly damaging	0.78
R6427:Fbln5	UTSW	12	101,728,081 (GRCm39)	missense	possibly damaging	0.84
R7079:Fbln5	UTSW	12	101,723,667 (GRCm39)	missense	probably damaging	1.00
R7343:Fbln5	UTSW	12	101,727,075 (GRCm39)	missense	probably damaging	1.00
R7803:Fbln5	UTSW	12	101,728,077 (GRCm39)	missense	probably damaging	1.00
R7927:Fbln5	UTSW	12	101,784,647 (GRCm39)	start gained	probably benign
R8190:Fbln5	UTSW	12	101,723,555 (GRCm39)	missense	probably damaging	0.99
R8381:Fbln5	UTSW	12	101,728,114 (GRCm39)	missense	probably benign
R8747:Fbln5	UTSW	12	101,734,754 (GRCm39)	missense	probably damaging	1.00
R8857:Fbln5	UTSW	12	101,726,990 (GRCm39)	missense	probably damaging	1.00
R9035:Fbln5	UTSW	12	101,717,041 (GRCm39)	missense	probably damaging	1.00
R9296:Fbln5	UTSW	12	101,780,853 (GRCm39)	missense	probably benign	0.01
R9341:Fbln5	UTSW	12	101,737,551 (GRCm39)	missense	probably damaging	1.00
R9343:Fbln5	UTSW	12	101,737,551 (GRCm39)	missense	probably damaging	1.00
R9481:Fbln5	UTSW	12	101,734,728 (GRCm39)	nonsense	probably null
R9562:Fbln5	UTSW	12	101,734,722 (GRCm39)	missense	probably damaging	1.00
R9565:Fbln5	UTSW	12	101,734,722 (GRCm39)	missense	probably damaging	1.00
R9619:Fbln5	UTSW	12	101,723,552 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGGTAACCCTCCCTTGCC -3'
(R):5'- TCCAGTGGGTTCATCATTCC -3'

Sequencing Primer
(F):5'- GCTGAGCAATAGGTACTCCTGATAC -3'
(R):5'- GTGGGTTCATCATTCCTGAAATTTAC -3'

Posted On

2022-03-25