Mutagenetix > Incidental Mutation

Incidental Mutation 'R5860:Flnb'

453863

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

044072-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5860 (G1)

Quality Score

104

Status

Validated

Chromosome

Chromosomal Location

7817957-7951588 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7931135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 2119 (L2119Q)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably damaging
Transcript: ENSMUST00000052678
AA Change: L2119Q

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

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: L2119Q

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

0.9434

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.1%
20x: 90.8%

Validation Efficiency

97% (75/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568A12Rik	A	G	1: 34,485,580		noncoding transcript	Het
A2ml1	T	C	6: 128,541,061	T1421A	probably benign	Het
Actr8	T	A	14: 29,986,285	Y150*	probably null	Het
Adamts1	A	G	16: 85,798,544	C249R	probably damaging	Het
Adgre1	T	A	17: 57,445,034	I594N	probably damaging	Het
Atf6	A	T	1: 170,841,775	L119H	probably damaging	Het
Atf6	G	A	1: 170,841,776	L119F	possibly damaging	Het
B3gat2	G	A	1: 23,815,319	W33*	probably null	Het
Bach2	A	G	4: 32,580,268	D831G	probably damaging	Het
Ccnk	A	T	12: 108,187,207	I76F	probably damaging	Het
Cdyl	A	C	13: 35,858,083	K368T	possibly damaging	Het
Chil1	A	G	1: 134,185,171	T114A	probably benign	Het
Cnppd1	A	G	1: 75,136,487	V379A	probably benign	Het
Col11a2	C	A	17: 34,064,185		probably benign	Het
Creb3l1	T	C	2: 92,024,054	S18G	probably benign	Het
Crybg3	A	C	16: 59,565,269	D197E	probably damaging	Het
Cryga	T	C	1: 65,103,368		probably benign	Het
Cthrc1	T	C	15: 39,086,685	C146R	probably damaging	Het
Cyhr1	A	T	15: 76,648,191	I239N	probably damaging	Het
Cyhr1	T	C	15: 76,656,415	Y101C	probably damaging	Het
Cyp2c39	A	T	19: 39,536,826	D191V	probably damaging	Het
Dchs1	C	T	7: 105,772,035	A393T	probably damaging	Het
Dhx30	G	A	9: 110,084,577	T1126I	probably damaging	Het
Dock2	C	T	11: 34,256,562	G1345R	probably damaging	Het
Dsc1	T	C	18: 20,095,024	E425G	probably damaging	Het
Exosc8	C	T	3: 54,735,042		probably benign	Het
Fat1	C	T	8: 45,051,129	A4553V	probably benign	Het
Fnbp4	T	A	2: 90,757,482	D401E	probably benign	Het
Glyctk	T	C	9: 106,155,707	E369G	possibly damaging	Het
Gm14149	C	A	2: 151,224,305		noncoding transcript	Het
Golga4	T	C	9: 118,558,106	L1432P	probably damaging	Het
Gtpbp4	A	T	13: 8,973,160	S623T	probably benign	Het
Insc	A	C	7: 114,791,148	S85R	probably damaging	Het
Lgr4	G	A	2: 109,991,151	R126H	probably damaging	Het
M1ap	T	A	6: 83,003,814	L227Q	probably damaging	Het
March7	T	C	2: 60,236,843	I569T	probably damaging	Het
Mbd1	C	A	18: 74,276,697	C339*	probably null	Het
Moxd2	T	A	6: 40,880,407	Y473F	probably damaging	Het
Mrgpra6	T	C	7: 47,189,351	H2R	probably benign	Het
Mtus1	T	G	8: 41,076,266	L742F	probably damaging	Het
Nek11	A	G	9: 105,392,961	Y21H	probably benign	Het
Notch4	G	T	17: 34,582,418	C1080F	probably damaging	Het
Nsd3	C	A	8: 25,666,091	P558Q	probably damaging	Het
Oas1e	A	T	5: 120,791,950	S168T	probably benign	Het
Ogfr	T	C	2: 180,592,492	S119P	probably damaging	Het
Olfr1387	A	G	11: 49,459,736	D19G	probably damaging	Het
Olfr44	T	A	9: 39,484,471	M261L	probably benign	Het
Pde4dip	A	G	3: 97,724,188	I1135T	possibly damaging	Het
Prex1	G	A	2: 166,644,684		probably benign	Het
Ptprf	T	C	4: 118,211,289		probably benign	Het
Rapsn	T	C	2: 91,045,514	V359A	probably damaging	Het
Ric1	A	G	19: 29,599,845	S1050G	possibly damaging	Het
Rnft2	A	G	5: 118,228,803	I290T	possibly damaging	Het
Senp7	C	A	16: 56,155,359	A476E	possibly damaging	Het
Serpinh1	G	A	7: 99,346,364	S337L	probably damaging	Het
Slc5a12	C	A	2: 110,597,624	A8D	probably benign	Het
Smg5	T	A	3: 88,342,907	C109S	probably damaging	Het
Speer4b	T	C	5: 27,500,228	H49R	possibly damaging	Het
Tas2r109	T	C	6: 132,980,701	I89V	probably benign	Het
Tctex1d2	A	G	16: 32,428,796	Y143C	probably damaging	Het
Tet1	A	G	10: 62,812,620		probably null	Het
Tmed6	G	T	8: 107,064,154	T87K	probably damaging	Het
Tpgs1	G	A	10: 79,669,711	G101D	probably damaging	Het
Trim13	T	G	14: 61,604,739	S68R	probably damaging	Het
Vwf	A	G	6: 125,643,090	N1577S		Het
Vwf	G	T	6: 125,679,265		probably benign	Het
Xpr1	T	C	1: 155,332,122		probably benign	Het
Ylpm1	C	T	12: 85,040,886	P1148L	probably damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	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
R1241:Flnb	UTSW	14	7896503	missense	probably benign	0.06
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
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'- GTAAATGCCATCCGTGCGTC -3'
(R):5'- CACATTTGTCCTAAGTGAAACCTC -3'

Sequencing Primer
(F):5'- ATCCGTGCGTCGAGGTAGAC -3'
(R):5'- ACAAGTTTGAGGCCACTCTG -3'

Posted On

2017-02-10