Mutagenetix > Incidental Mutation

Incidental Mutation 'R8379:Fbln1'

646889

Institutional Source

Beutler Lab

Gene Symbol

Fbln1

Ensembl Gene

ENSMUSG00000006369

Gene Name

fibulin 1

Synonyms

MMRRC Submission

067810-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.879) question?

Stock #

R8379 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85090150-85170495 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85116773 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 275 (C275Y)

Ref Sequence

ENSEMBL: ENSMUSP00000054583 (fasta)

Gene Model

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

AlphaFold

Q08879

Predicted Effect

probably damaging
Transcript: ENSMUST00000057410
AA Change: C275Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054583
Gene: ENSMUSG00000006369
AA Change: C275Y

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: C275Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105058
Gene: ENSMUSG00000006369
AA Change: C275Y

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (61/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aipl1	T	C	11: 71,920,126 (GRCm39)	D314G	probably benign	Het
Ankrd12	T	G	17: 66,290,939 (GRCm39)	E1498A	probably benign	Het
Appl1	A	T	14: 26,647,372 (GRCm39)		probably null	Het
Auh	A	G	13: 53,063,349 (GRCm39)	*116R	probably null	Het
Ccdc7a	T	A	8: 129,691,417 (GRCm39)	H402L	probably benign	Het
Ccr4	T	C	9: 114,321,235 (GRCm39)	T277A	probably benign	Het
Col18a1	C	T	10: 76,889,072 (GRCm39)	V1302I	probably benign	Het
Csnk1a1	T	C	18: 61,688,925 (GRCm39)	I35T	probably benign	Het
Csnk1e	T	C	15: 79,304,882 (GRCm39)	R374G	possibly damaging	Het
Ddx11	A	G	17: 66,437,020 (GRCm39)	R105G	probably benign	Het
Denr	C	A	5: 124,065,124 (GRCm39)	T159K	possibly damaging	Het
Dmp1	C	A	5: 104,359,571 (GRCm39)	Y82*	probably null	Het
Dok3	A	G	13: 55,671,833 (GRCm39)	V246A	probably benign	Het
Endov	A	C	11: 119,382,723 (GRCm39)	K57Q	possibly damaging	Het
Fam83a	A	G	15: 57,873,196 (GRCm39)	T342A	probably benign	Het
Fhip1b	T	C	7: 105,034,342 (GRCm39)	N430D	possibly damaging	Het
Foxi1	A	G	11: 34,157,530 (GRCm39)	I165T	possibly damaging	Het
Gm14496	A	T	2: 181,642,275 (GRCm39)	I649F	probably damaging	Het
Grin2b	A	G	6: 135,899,967 (GRCm39)	S305P	probably damaging	Het
Grm1	G	A	10: 10,564,879 (GRCm39)	T1143M	possibly damaging	Het
Ifi202b	C	A	1: 173,802,298 (GRCm39)		probably null	Het
Klhl32	A	T	4: 24,629,194 (GRCm39)	D491E	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Krt13	A	G	11: 100,009,706 (GRCm39)	L358P	probably damaging	Het
Limk2	G	A	11: 3,321,162 (GRCm39)		probably benign	Het
Mdn1	A	G	4: 32,756,453 (GRCm39)	D4720G	probably null	Het
Mkln1	T	A	6: 31,435,900 (GRCm39)	Y286*	probably null	Het
Muc6	C	A	7: 141,230,579 (GRCm39)	E1143*	probably null	Het
Myh15	A	G	16: 48,901,551 (GRCm39)	I242M	probably benign	Het
Noc4l	T	G	5: 110,798,828 (GRCm39)	K241Q	probably damaging	Het
Nup88	C	A	11: 70,860,607 (GRCm39)	L57F	possibly damaging	Het
Obsl1	G	T	1: 75,480,501 (GRCm39)	F374L	possibly damaging	Het
Or51aa2	A	G	7: 103,188,183 (GRCm39)	I86T	possibly damaging	Het
Orm1	A	T	4: 63,264,355 (GRCm39)	D137V	probably damaging	Het
Osbpl2	T	A	2: 179,778,895 (GRCm39)	D9E	probably damaging	Het
P4ha3	G	T	7: 99,942,986 (GRCm39)	D124Y	probably damaging	Het
Poteg	T	C	8: 27,943,354 (GRCm39)	V208A	probably benign	Het
Ppfibp1	A	G	6: 146,931,843 (GRCm39)	D963G	probably damaging	Het
Prdx6	G	T	1: 161,078,660 (GRCm39)	D9E	probably benign	Het
Prrc2b	C	A	2: 32,104,666 (GRCm39)	N1381K	probably damaging	Het
Ptpn14	T	A	1: 189,565,598 (GRCm39)	V222E	possibly damaging	Het
Rasal1	C	T	5: 120,804,420 (GRCm39)	R431C	probably benign	Het
Rexo5	A	T	7: 119,433,508 (GRCm39)	M422L	probably benign	Het
Rnf17	TG	T	14: 56,661,999 (GRCm39)	132	probably null	Het
Robo2	A	T	16: 73,730,588 (GRCm39)	I1008N	probably damaging	Het
Sidt1	T	A	16: 44,106,755 (GRCm39)	Y225F	probably benign	Het
Slc6a15	A	T	10: 103,225,048 (GRCm39)	E45D	probably benign	Het
Spata31d1a	T	G	13: 59,850,668 (GRCm39)	M487L	probably benign	Het
St6galnac1	C	A	11: 116,666,325 (GRCm39)		probably benign	Het
Tcp11l2	A	G	10: 84,449,469 (GRCm39)	Y478C	probably damaging	Het
Tdrd12	G	T	7: 35,223,482 (GRCm39)	C67*	probably null	Het
Tead2	G	A	7: 44,867,505 (GRCm39)	G78D	probably damaging	Het
Tfpi2	A	T	6: 3,963,849 (GRCm39)	N194K	probably damaging	Het
Timd2	A	G	11: 46,568,027 (GRCm39)		probably null	Het
Tmem270	T	C	5: 134,930,557 (GRCm39)	T235A	probably benign	Het
Tnrc18	T	C	5: 142,774,157 (GRCm39)	D224G		Het
Tsga10	G	T	1: 37,840,959 (GRCm39)	Q416K	probably benign	Het
Ulk1	C	A	5: 110,935,531 (GRCm39)	L911F	probably damaging	Het
Usp8	T	C	2: 126,584,491 (GRCm39)	S567P	probably benign	Het
Vmn2r-ps158	C	T	7: 42,697,270 (GRCm39)	P776S	probably damaging	Het
Zdhhc3	A	C	9: 122,918,143 (GRCm39)	C129G	probably damaging	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
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
R9018:Fbln1	UTSW	15	85,126,215 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCCTCATAAGTCAGGGAGG -3'
(R):5'- GAAGTTTACCAGCCCTGATCTG -3'

Sequencing Primer
(F):5'- ACACAGTTTGGCTCACCGTG -3'
(R):5'- CCTGATCTGGGCTGACTGTC -3'

Posted On

2020-09-02