Mutagenetix > Incidental Mutation

Incidental Mutation 'R1241:Flnb'

152019

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

039308-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1241 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7817957-7951588 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7896503 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 898 (I898T)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052678]

AlphaFold

Q80X90

Predicted Effect

probably benign
Transcript: ENSMUST00000052678
AA Change: I898T

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: I898T

Domain	Start	End	E-Value	Type
CH	18	120	2.38e-26	SMART
CH	141	237	1.83e-18	SMART
IG_FLMN	253	350	1.17e-33	SMART
IG_FLMN	353	449	2.08e-34	SMART
IG_FLMN	451	546	3.42e-35	SMART
IG_FLMN	548	639	6.06e-27	SMART
IG_FLMN	644	739	1.94e-34	SMART
IG_FLMN	741	842	4.25e-31	SMART
IG_FLMN	844	941	5.16e-30	SMART
IG_FLMN	943	1037	5.12e-25	SMART
IG_FLMN	1039	1130	5.31e-41	SMART
IG_FLMN	1132	1225	1.4e-31	SMART
IG_FLMN	1227	1325	1.42e-32	SMART
IG_FLMN	1327	1418	5.19e-35	SMART
IG_FLMN	1420	1514	2.48e-41	SMART
IG_FLMN	1516	1611	3.15e-34	SMART
IG_FLMN	1613	1707	4.99e-37	SMART
IG_FLMN	1730	1819	4.44e-11	SMART
IG_FLMN	1820	1911	5.82e-38	SMART
IG_FLMN	1914	1997	5.68e-9	SMART
IG_FLMN	2001	2092	4.45e-34	SMART
IG_FLMN	2101	2188	1.24e-9	SMART
IG_FLMN	2192	2283	4.48e-39	SMART
IG_FLMN	2286	2378	2.94e-25	SMART
IG_FLMN	2383	2474	5.66e-27	SMART
IG_FLMN	2511	2602	1.63e-27	SMART

Meta Mutation Damage Score

0.7601

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mutations in this gene cause skeletal defects including runting, premature mineralization, and bone fusion. Nullizygous mice show a delay and reduction in long bone growth. Truncation mutations cause early fusion of spinal vertebrae due to enhanced chondrocyte hypertrophy and early differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700056E22Rik	C	T	1: 184,033,505	S119N	probably benign	Het
9030619P08Rik	A	C	15: 75,429,997		noncoding transcript	Het
Aldh1l2	T	C	10: 83,496,025	I639V	probably benign	Het
Ambra1	T	C	2: 91,770,896		probably benign	Het
Ap5z1	T	C	5: 142,470,114	Y299H	probably damaging	Het
Atp6v1b1	A	T	6: 83,756,544		probably benign	Het
Atr	G	A	9: 95,950,636	V2574I	probably benign	Het
Atxn1l	T	A	8: 109,732,980	T217S	probably benign	Het
Ccdc85a	A	G	11: 28,396,150	S89P	probably benign	Het
Cd209e	A	T	8: 3,849,124	I196N	probably damaging	Het
Cdhr4	A	G	9: 107,995,296	S247G	probably benign	Het
Cntn6	A	T	6: 104,832,509	I502F	probably damaging	Het
Crisp4	T	C	1: 18,122,794	Y233C	probably damaging	Het
Ctsb	C	A	14: 63,139,104	T261N	probably benign	Het
Ctsk	T	C	3: 95,500,874	F14L	probably benign	Het
Dchs1	T	C	7: 105,758,178	I2110V	probably damaging	Het
Dennd5b	A	G	6: 149,068,490	M155T	probably benign	Het
Echdc3	T	C	2: 6,212,800	D54G	probably benign	Het
Egln3	G	A	12: 54,181,693	T209I	probably damaging	Het
Fbn1	A	C	2: 125,372,527		probably benign	Het
Fkbp15	A	T	4: 62,304,609	S1018T	possibly damaging	Het
Flt1	T	A	5: 147,599,646	Y795F	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fryl	A	G	5: 73,064,925		probably benign	Het
Fryl	T	C	5: 73,110,271	E417G	probably damaging	Het
Gcnt3	T	C	9: 70,034,333	I318V	probably benign	Het
Gm11437	T	A	11: 84,164,628	H54L	possibly damaging	Het
Huwe1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	X: 151,907,048		probably benign	Het
Jarid2	G	A	13: 44,884,892		probably benign	Het
Kif5b	A	T	18: 6,214,044	V653E	probably benign	Het
Kmt2b	A	G	7: 30,574,940	V2113A	probably damaging	Het
Knl1	C	T	2: 119,072,573	T1585I	probably benign	Het
Mlxipl	T	A	5: 135,132,718	M497K	probably benign	Het
Mre11a	T	A	9: 14,799,639	W210R	probably damaging	Het
Mrps22	A	G	9: 98,594,695	V207A	probably benign	Het
Myo15	A	G	11: 60,499,430	I2111V	possibly damaging	Het
Myo1a	C	T	10: 127,719,279	P838L	probably benign	Het
Nbea	T	A	3: 56,058,040	H484L	probably damaging	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Nlrp2	T	A	7: 5,328,431	D322V	probably damaging	Het
Nrcam	T	C	12: 44,590,164	C1057R	probably damaging	Het
Ntsr1	T	C	2: 180,500,601	S62P	probably damaging	Het
Nudt18	A	G	14: 70,579,427	H157R	probably benign	Het
Olfr1002	T	A	2: 85,647,560	T254S	probably damaging	Het
Olfr982	C	A	9: 40,074,896	N200K	probably damaging	Het
Sidt2	T	C	9: 45,945,704	T435A	probably damaging	Het
Snx27	T	C	3: 94,520,233	T312A	probably benign	Het
Srebf2	T	C	15: 82,177,519	S429P	probably damaging	Het
Suclg2	A	G	6: 95,497,582		probably benign	Het
Tchh	A	T	3: 93,444,972	E573V	unknown	Het
Tdrd1	A	G	19: 56,861,760	T985A	probably benign	Het
Ttc7b	A	G	12: 100,403,439	I357T	possibly damaging	Het
Ttn	T	C	2: 76,795,664	E13271G	probably damaging	Het
Usp13	A	G	3: 32,915,708	E661G	probably damaging	Het
Vasp	T	G	7: 19,259,033		probably benign	Het
Vmn2r109	A	T	17: 20,555,241	Y75N	possibly damaging	Het
Vmn2r15	T	A	5: 109,292,904	N363Y	probably damaging	Het
Vmn2r60	T	A	7: 42,137,052	N426K	probably benign	Het
Wisp2	T	A	2: 163,829,077	M168K	unknown	Het
Znhit2	C	A	19: 6,062,258	N344K	probably damaging	Het

Other mutations in Flnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Flnb	APN	14	7917390	splice site	probably benign
IGL01063:Flnb	APN	14	7926518	splice site	probably benign
IGL01135:Flnb	APN	14	7909736	missense	probably benign
IGL01139:Flnb	APN	14	7945989	missense	probably damaging	1.00
IGL01364:Flnb	APN	14	7934562	critical splice acceptor site	probably null
IGL01417:Flnb	APN	14	7905513	missense	probably damaging	0.99
IGL01505:Flnb	APN	14	7902003	critical splice donor site	probably null
IGL01560:Flnb	APN	14	7893829	missense	probably benign	0.07
IGL01621:Flnb	APN	14	7950470	missense	probably damaging	1.00
IGL01656:Flnb	APN	14	7902010	splice site	probably benign
IGL01889:Flnb	APN	14	7935967	missense	possibly damaging	0.85
IGL01987:Flnb	APN	14	7922748	critical splice donor site	probably null
IGL02322:Flnb	APN	14	7894676	missense	probably damaging	1.00
IGL02496:Flnb	APN	14	7930919	splice site	probably benign
IGL02752:Flnb	APN	14	7917338	missense	probably benign
IGL03001:Flnb	APN	14	7934680	missense	probably damaging	0.99
IGL03076:Flnb	APN	14	7901988	missense	probably benign	0.01
IGL03085:Flnb	APN	14	7882211	missense	probably benign
IGL03170:Flnb	APN	14	7818261	missense	possibly damaging	0.90
IGL03373:Flnb	APN	14	7890867	critical splice donor site	probably null
Boomerang	UTSW	14	7901945	missense	probably damaging	1.00
Queensland	UTSW	14	7927352	missense	probably damaging	1.00
R3437_Flnb_252	UTSW	14	7942057	missense	probably damaging	0.97
R8441_Flnb_221	UTSW	14	7896488	missense	probably benign	0.15
Rhodelinda	UTSW	14	7887682	splice site	probably benign
saul	UTSW	14	7889183	missense	probably damaging	0.99
Xerxes	UTSW	14	7867551	missense	probably damaging	1.00
R0068:Flnb	UTSW	14	7915290	missense	possibly damaging	0.49
R0068:Flnb	UTSW	14	7915290	missense	possibly damaging	0.49
R0084:Flnb	UTSW	14	7935979	missense	probably benign
R0128:Flnb	UTSW	14	7901951	missense	probably damaging	0.99
R0130:Flnb	UTSW	14	7901951	missense	probably damaging	0.99
R0148:Flnb	UTSW	14	7939077	missense	probably benign	0.01
R0166:Flnb	UTSW	14	7896115	missense	probably damaging	1.00
R0376:Flnb	UTSW	14	7946014	critical splice donor site	probably null
R0547:Flnb	UTSW	14	7912943	splice site	probably null
R0612:Flnb	UTSW	14	7887682	splice site	probably benign
R0656:Flnb	UTSW	14	7927352	missense	probably damaging	1.00
R0691:Flnb	UTSW	14	7890810	missense	probably benign	0.16
R1572:Flnb	UTSW	14	7883908	missense	probably damaging	0.97
R1682:Flnb	UTSW	14	7913121	missense	probably benign	0.04
R1807:Flnb	UTSW	14	7934645	missense	probably benign	0.26
R1848:Flnb	UTSW	14	7892113	missense	probably damaging	1.00
R1959:Flnb	UTSW	14	7884735	nonsense	probably null
R2078:Flnb	UTSW	14	7927466	missense	probably damaging	1.00
R2132:Flnb	UTSW	14	7873376	missense	probably benign	0.04
R2209:Flnb	UTSW	14	7905507	nonsense	probably null
R2212:Flnb	UTSW	14	7881652	small deletion	probably benign
R2213:Flnb	UTSW	14	7881652	small deletion	probably benign
R2363:Flnb	UTSW	14	7945950	missense	possibly damaging	0.95
R2415:Flnb	UTSW	14	7929932	missense	probably benign	0.07
R2983:Flnb	UTSW	14	7882250	missense	probably damaging	1.00
R3001:Flnb	UTSW	14	7907162	missense	probably benign	0.22
R3002:Flnb	UTSW	14	7907162	missense	probably benign	0.22
R3436:Flnb	UTSW	14	7942057	missense	probably damaging	0.97
R3437:Flnb	UTSW	14	7942057	missense	probably damaging	0.97
R3778:Flnb	UTSW	14	7915353	missense	probably benign	0.06
R3783:Flnb	UTSW	14	7889236	missense	probably benign	0.04
R4162:Flnb	UTSW	14	7915374	missense	possibly damaging	0.81
R4163:Flnb	UTSW	14	7915374	missense	possibly damaging	0.81
R4164:Flnb	UTSW	14	7915374	missense	possibly damaging	0.81
R4356:Flnb	UTSW	14	7922700	missense	probably benign
R4369:Flnb	UTSW	14	7942216	missense	probably benign
R4783:Flnb	UTSW	14	7905701	missense	probably benign	0.12
R4785:Flnb	UTSW	14	7905701	missense	probably benign	0.12
R4790:Flnb	UTSW	14	7905661	missense	probably benign	0.34
R4828:Flnb	UTSW	14	7919238	missense	probably benign	0.13
R4882:Flnb	UTSW	14	7929936	missense	possibly damaging	0.56
R5002:Flnb	UTSW	14	7945882	missense	probably damaging	1.00
R5058:Flnb	UTSW	14	7924262	nonsense	probably null
R5184:Flnb	UTSW	14	7901945	missense	probably damaging	1.00
R5186:Flnb	UTSW	14	7909748	missense	probably damaging	1.00
R5395:Flnb	UTSW	14	7883881	missense	probably benign	0.02
R5421:Flnb	UTSW	14	7926494	missense	probably damaging	1.00
R5667:Flnb	UTSW	14	7890843	missense	probably benign	0.00
R5671:Flnb	UTSW	14	7890843	missense	probably benign	0.00
R5714:Flnb	UTSW	14	7929073	missense	probably damaging	1.00
R5860:Flnb	UTSW	14	7931135	missense	probably damaging	1.00
R5892:Flnb	UTSW	14	7907183	missense	probably damaging	1.00
R5924:Flnb	UTSW	14	7890765	missense	probably benign	0.00
R6131:Flnb	UTSW	14	7894635	missense	possibly damaging	0.79
R6244:Flnb	UTSW	14	7892092	missense	probably damaging	1.00
R6489:Flnb	UTSW	14	7867551	missense	probably damaging	1.00
R6582:Flnb	UTSW	14	7892275	critical splice donor site	probably null
R6586:Flnb	UTSW	14	7929138	missense	possibly damaging	0.93
R6611:Flnb	UTSW	14	7915318	missense	probably damaging	1.00
R6626:Flnb	UTSW	14	7929012	missense	probably damaging	1.00
R6700:Flnb	UTSW	14	7892189	missense	probably damaging	0.99
R6738:Flnb	UTSW	14	7904536	missense	probably benign	0.01
R6864:Flnb	UTSW	14	7905640	missense	possibly damaging	0.84
R6916:Flnb	UTSW	14	7907171	missense	probably damaging	0.99
R7117:Flnb	UTSW	14	7894214	missense	probably benign	0.02
R7164:Flnb	UTSW	14	7915944	splice site	probably null
R7328:Flnb	UTSW	14	7883788	missense	possibly damaging	0.95
R7328:Flnb	UTSW	14	7894660	nonsense	probably null
R7687:Flnb	UTSW	14	7924224	missense	probably damaging	1.00
R7716:Flnb	UTSW	14	7917274	missense	possibly damaging	0.64
R7763:Flnb	UTSW	14	7926478	missense	probably benign	0.00
R7821:Flnb	UTSW	14	7939113	missense	probably benign	0.00
R7921:Flnb	UTSW	14	7933800	missense	possibly damaging	0.57
R8008:Flnb	UTSW	14	7892155	missense	probably damaging	1.00
R8075:Flnb	UTSW	14	7913048	missense	probably benign	0.00
R8084:Flnb	UTSW	14	7907243	missense	probably benign	0.00
R8259:Flnb	UTSW	14	7889183	missense	probably damaging	0.99
R8441:Flnb	UTSW	14	7896488	missense	probably benign	0.15
R8493:Flnb	UTSW	14	7869822	missense	probably damaging	0.97
R8508:Flnb	UTSW	14	7950394	missense	probably damaging	0.98
R8531:Flnb	UTSW	14	7929939	missense	probably damaging	1.00
R8812:Flnb	UTSW	14	7887624	missense	probably benign	0.06
R8814:Flnb	UTSW	14	7927409	missense	probably damaging	1.00
R8825:Flnb	UTSW	14	7887566	missense	probably damaging	1.00
R8868:Flnb	UTSW	14	7908671	missense	probably benign	0.02
R8955:Flnb	UTSW	14	7892874	missense	probably damaging	1.00
R8955:Flnb	UTSW	14	7904688	nonsense	probably null
R8976:Flnb	UTSW	14	7901882	critical splice acceptor site	probably null
R9055:Flnb	UTSW	14	7908553	missense	probably benign	0.00
R9148:Flnb	UTSW	14	7817996	start gained	probably benign
R9179:Flnb	UTSW	14	7887541	nonsense	probably null
R9180:Flnb	UTSW	14	7818219	missense	probably damaging	1.00
R9189:Flnb	UTSW	14	7892976	missense	possibly damaging	0.90
R9286:Flnb	UTSW	14	7873414	missense	probably damaging	0.98
R9288:Flnb	UTSW	14	7904498	missense	probably benign	0.43
R9354:Flnb	UTSW	14	7818411	missense	probably benign	0.13
R9484:Flnb	UTSW	14	7929004	missense	probably benign	0.06
R9505:Flnb	UTSW	14	7904665	missense	probably benign
R9525:Flnb	UTSW	14	7905481	missense	probably damaging	1.00
R9621:Flnb	UTSW	14	7926421	missense	probably damaging	0.99
R9630:Flnb	UTSW	14	7926438	nonsense	probably null
R9739:Flnb	UTSW	14	7935954	nonsense	probably null
R9760:Flnb	UTSW	14	7929846	missense	probably damaging	0.98
X0066:Flnb	UTSW	14	7908636	missense	probably damaging	1.00
Z1088:Flnb	UTSW	14	7905871	missense	probably benign	0.04
Z1176:Flnb	UTSW	14	7942066	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGCTGCTGCTGTCAAACCTGTC -3'
(R):5'- GCAACTGCCTGCAAAGGAAACTG -3'

Sequencing Primer
(F):5'- GCTGTCAAACCTGTCAGACTG -3'
(R):5'- ACTTCTCTGGGAATCCCACAG -3'

Posted On

2014-01-29