Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Fbln2'

360713

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fbln2

Ensembl Gene

ENSMUSG00000064080

Gene Name

fibulin 2

Synonyms

5730577E14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

91212455-91272540 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 91265857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 846 (C846*)

Ref Sequence

ENSEMBL: ENSMUSP00000109126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041544] [ENSMUST00000113498]

AlphaFold

P37889

Predicted Effect

probably null
Transcript: ENSMUST00000041544
AA Change: C893*

SMART Domains

Protein: ENSMUSP00000048334
Gene: ENSMUSG00000064080
AA Change: C893*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:VWC	72	138	8e-35	BLAST
low complexity region	201	215	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC
low complexity region	242	262	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ANATO	435	470	1.54e-11	SMART
ANATO	478	509	4.67e-2	SMART
ANATO	511	543	2.78e-9	SMART
low complexity region	546	569	N/A	INTRINSIC
EGF_CA	594	635	3.1e-11	SMART
EGF	672	708	1.88e-1	SMART
EGF	712	755	1.33e1	SMART
EGF_CA	756	800	1.34e-6	SMART
EGF_CA	801	846	1.65e-6	SMART
EGF_CA	847	894	2.06e-7	SMART
EGF_CA	895	937	3.56e-11	SMART
EGF_CA	938	979	3.48e-14	SMART
EGF_CA	980	1018	1.7e-8	SMART
EGF_CA	1019	1061	8.18e-11	SMART
EGF_CA	1062	1106	5.08e-7	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113498
AA Change: C846*

SMART Domains

Protein: ENSMUSP00000109126
Gene: ENSMUSG00000064080
AA Change: C846*

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Blast:VWC	72	138	8e-35	BLAST
low complexity region	201	215	N/A	INTRINSIC
low complexity region	217	233	N/A	INTRINSIC
low complexity region	242	262	N/A	INTRINSIC
low complexity region	267	289	N/A	INTRINSIC
low complexity region	313	320	N/A	INTRINSIC
ANATO	435	470	1.54e-11	SMART
ANATO	478	509	4.67e-2	SMART
ANATO	511	543	2.78e-9	SMART
low complexity region	546	569	N/A	INTRINSIC
EGF_CA	594	635	3.1e-11	SMART
EGF	672	708	1.88e-1	SMART
EGF_CA	709	753	1.34e-6	SMART
EGF_CA	754	799	1.65e-6	SMART
EGF_CA	800	847	2.06e-7	SMART
EGF_CA	848	890	3.56e-11	SMART
EGF_CA	891	932	3.48e-14	SMART
EGF_CA	933	971	1.7e-8	SMART
EGF_CA	972	1014	8.18e-11	SMART
EGF_CA	1015	1059	5.08e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137029

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal and neuronal structures. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out alle are viable, fertile and grossly normal with no apparent defects in elastic fiber formation in the aorta and skin. [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
2700081O15Rik	C	A	19: 7,420,422	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Cgn	G	A	3: 94,774,240	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	probably damaging	Het

Other mutations in Fbln2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01406:Fbln2	APN	6	91266392	missense	probably damaging	1.00
IGL01664:Fbln2	APN	6	91233457	missense	probably damaging	0.96
IGL02110:Fbln2	APN	6	91234102	missense	probably benign	0.01
IGL02227:Fbln2	APN	6	91256367	missense	possibly damaging	0.90
IGL03287:Fbln2	APN	6	91233494	missense	probably damaging	1.00
IGL03412:Fbln2	APN	6	91271781	missense	probably damaging	1.00
IGL03014:Fbln2	UTSW	6	91265919	intron	probably benign
R0103:Fbln2	UTSW	6	91271550	missense	probably benign
R0103:Fbln2	UTSW	6	91271550	missense	probably benign
R1563:Fbln2	UTSW	6	91263383	nonsense	probably null
R1843:Fbln2	UTSW	6	91265775	missense	probably damaging	1.00
R1846:Fbln2	UTSW	6	91256417	missense	possibly damaging	0.91
R1994:Fbln2	UTSW	6	91234301	missense	probably damaging	1.00
R2431:Fbln2	UTSW	6	91269973	missense	probably damaging	0.98
R2443:Fbln2	UTSW	6	91259711	missense	probably damaging	1.00
R2925:Fbln2	UTSW	6	91265855	missense	probably damaging	1.00
R3030:Fbln2	UTSW	6	91233715	missense	probably damaging	1.00
R3758:Fbln2	UTSW	6	91256381	missense	probably damaging	1.00
R3854:Fbln2	UTSW	6	91266371	missense	probably damaging	1.00
R4006:Fbln2	UTSW	6	91269961	splice site	probably null
R4627:Fbln2	UTSW	6	91259767	missense	probably damaging	1.00
R4752:Fbln2	UTSW	6	91256243	missense	probably benign
R4763:Fbln2	UTSW	6	91270000	missense	probably damaging	1.00
R4798:Fbln2	UTSW	6	91269186	missense	probably benign	0.03
R4877:Fbln2	UTSW	6	91233495	missense	probably damaging	1.00
R4878:Fbln2	UTSW	6	91256995	critical splice donor site	probably null
R4937:Fbln2	UTSW	6	91264699	missense	probably damaging	0.99
R4969:Fbln2	UTSW	6	91271587	missense	possibly damaging	0.64
R4996:Fbln2	UTSW	6	91266010	missense	probably benign	0.05
R5344:Fbln2	UTSW	6	91266383	missense	probably damaging	1.00
R5681:Fbln2	UTSW	6	91271796	missense	probably damaging	1.00
R5838:Fbln2	UTSW	6	91271848	missense	possibly damaging	0.55
R6035:Fbln2	UTSW	6	91263353	missense	probably damaging	1.00
R6035:Fbln2	UTSW	6	91263353	missense	probably damaging	1.00
R6288:Fbln2	UTSW	6	91233281	missense	probably damaging	1.00
R6433:Fbln2	UTSW	6	91233272	missense	probably damaging	1.00
R6451:Fbln2	UTSW	6	91234259	missense	probably benign	0.18
R6491:Fbln2	UTSW	6	91259750	missense	possibly damaging	0.68
R6520:Fbln2	UTSW	6	91259659	missense	probably damaging	1.00
R6657:Fbln2	UTSW	6	91259750	missense	possibly damaging	0.68
R6987:Fbln2	UTSW	6	91234229	missense	probably benign	0.00
R7344:Fbln2	UTSW	6	91269973	missense	probably damaging	0.98
R7485:Fbln2	UTSW	6	91270161	splice site	probably null
R7488:Fbln2	UTSW	6	91265863	critical splice donor site	probably null
R7571:Fbln2	UTSW	6	91268575	missense	probably damaging	1.00
R7667:Fbln2	UTSW	6	91233667	missense	probably damaging	1.00
R7776:Fbln2	UTSW	6	91269199	missense	probably damaging	1.00
R7779:Fbln2	UTSW	6	91233194	missense	probably damaging	1.00
R8320:Fbln2	UTSW	6	91257767	missense	possibly damaging	0.51
R8487:Fbln2	UTSW	6	91250864	missense	probably damaging	0.97
R8871:Fbln2	UTSW	6	91256233	critical splice acceptor site	probably null
R8912:Fbln2	UTSW	6	91263438	missense	possibly damaging	0.95
R8931:Fbln2	UTSW	6	91269090	missense	probably damaging	1.00
R9127:Fbln2	UTSW	6	91233491	missense	probably damaging	0.98
R9248:Fbln2	UTSW	6	91254574	missense	possibly damaging	0.51
R9566:Fbln2	UTSW	6	91254531	missense	probably benign	0.01
Z1088:Fbln2	UTSW	6	91233346	missense	probably damaging	1.00

Posted On

2015-12-18