Mutagenetix > Incidental Mutation

Incidental Mutation 'R4790:Flnb'

368503

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

042418-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4790 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7817957-7951588 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7905661 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1137 (V1137A)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably benign
Transcript: ENSMUST00000052678
AA Change: V1137A

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: V1137A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	A	6: 48,930,552	I162N	probably damaging	Het
Abca5	T	G	11: 110,311,410	T390P	possibly damaging	Het
Acss3	A	T	10: 107,023,702	Y345*	probably null	Het
Adam26b	A	T	8: 43,520,727	S413T	probably benign	Het
Angpt2	T	A	8: 18,714,082	Q148L	probably damaging	Het
Ank3	T	A	10: 69,988,151	Y883*	probably null	Het
Ankrd52	A	G	10: 128,380,945	K190E	possibly damaging	Het
Anks1b	A	G	10: 90,163,275	R415G	probably damaging	Het
Ano3	T	A	2: 110,884,919	Q58L	probably benign	Het
Arhgap39	A	T	15: 76,726,731	M924K	possibly damaging	Het
AU040320	A	G	4: 126,847,215	M910V	possibly damaging	Het
BC051019	T	A	7: 109,716,346	H86L	probably benign	Het
C1qbp	G	A	11: 70,980,030	Q151*	probably null	Het
C4b	G	T	17: 34,734,143	D1069E	probably benign	Het
C77080	C	A	4: 129,223,302	R523L	probably damaging	Het
Casp1	C	T	9: 5,303,020	T158I	probably benign	Het
Casq1	T	C	1: 172,216,837	D141G	probably damaging	Het
Ccdc33	T	A	9: 58,029,957	E653V	probably damaging	Het
Cd180	C	T	13: 102,702,822	T71M	probably damaging	Het
Cdk4	T	C	10: 127,064,701	L112P	probably damaging	Het
Celf2	A	G	2: 6,549,903	F425S	probably damaging	Het
Chrm3	A	T	13: 9,877,662	V446E	probably benign	Het
Chst9	A	T	18: 15,453,050	L152H	probably damaging	Het
Cib2	A	G	9: 54,549,803		probably null	Het
Clec18a	T	C	8: 111,072,085	S366G	probably damaging	Het
Crebbp	A	G	16: 4,180,119	F34L	probably damaging	Het
Dapk1	AT	A	13: 60,723,105		probably null	Het
Ddi1	T	A	9: 6,265,761	M203L	probably benign	Het
Ddx20	G	T	3: 105,683,169	S270R	probably benign	Het
Epp13	A	T	7: 6,266,318	K31*	probably null	Het
Espnl	A	T	1: 91,344,424	E458V	probably damaging	Het
Fat3	T	C	9: 15,998,484	D2074G	probably damaging	Het
Fcf1	A	G	12: 84,974,128	T61A	probably benign	Het
Fkbp15	T	C	4: 62,307,997	R772G	probably benign	Het
Fosb	C	A	7: 19,309,388	C15F	probably damaging	Het
Frem2	A	T	3: 53,516,741	W3092R	probably benign	Het
Gm3248	T	C	14: 5,945,831	I28V	probably damaging	Het
Gm4922	G	T	10: 18,784,168	L269I	possibly damaging	Het
Gucy2e	G	A	11: 69,228,448	R627W	probably damaging	Het
Hephl1	T	A	9: 15,059,171	E1009V	probably damaging	Het
Hsf4	A	T	8: 105,270,605	Q61L	probably damaging	Het
Itgam	T	A	7: 128,116,273	N1046K	probably benign	Het
Itgav	G	A	2: 83,755,810	C138Y	probably damaging	Het
Itih4	A	T	14: 30,889,910	Y157F	probably damaging	Het
Kcnt2	C	T	1: 140,354,516	R80C	probably damaging	Het
Kdm4b	G	A	17: 56,401,618	V986M	probably damaging	Het
Lamb3	T	A	1: 193,339,886	V1014D	probably damaging	Het
Lrrc74b	G	T	16: 17,549,853	N282K	probably damaging	Het
Map3k20	T	A	2: 72,441,704	H725Q	probably benign	Het
Mink1	A	G	11: 70,599,041	N81S	probably damaging	Het
Mmp21	A	G	7: 133,675,030	Y415H	probably damaging	Het
Mycbp2	A	T	14: 103,229,437	W1297R	probably damaging	Het
Myh8	T	C	11: 67,279,963	M95T	probably damaging	Het
Myo7b	A	T	18: 32,000,105		probably null	Het
Nanog	A	G	6: 122,707,915	M20V	probably benign	Het
Ncapd3	A	G	9: 27,051,850	I484V	probably benign	Het
Ndufa12	A	T	10: 94,220,758	N116I	probably benign	Het
Nedd4l	A	G	18: 65,203,945	I668V	possibly damaging	Het
Nobox	T	C	6: 43,305,546	D309G	probably benign	Het
Npnt	A	G	3: 132,890,762		probably benign	Het
Nrxn1	A	C	17: 90,455,049	Y2D	possibly damaging	Het
Obox6	G	T	7: 15,834,577	P125T	possibly damaging	Het
Ofcc1	G	A	13: 40,015,388	T841I	probably damaging	Het
Olfr1079	T	C	2: 86,538,880	T10A	possibly damaging	Het
Olfr1193	T	A	2: 88,678,387	N177K	possibly damaging	Het
Olfr1436	A	G	19: 12,298,941	Y64H	possibly damaging	Het
Olfr202	A	T	16: 59,284,458	V13D	probably damaging	Het
Olfr679	T	C	7: 105,086,637		probably benign	Het
Olfr697	C	G	7: 106,741,791	V48L	probably benign	Het
Olfr761	T	C	17: 37,952,742	Y94C	probably damaging	Het
Osm	A	T	11: 4,238,435	M21L	probably benign	Het
Otogl	T	A	10: 107,822,033		probably null	Het
Otud4	T	G	8: 79,666,773	S493A	possibly damaging	Het
Pars2	A	G	4: 106,651,111		probably benign	Het
Phlda3	T	A	1: 135,766,819	V124E	possibly damaging	Het
Pias4	T	C	10: 81,157,492	D199G	probably damaging	Het
Pm20d1	T	C	1: 131,812,039	L375P	probably benign	Het
Pole2	T	C	12: 69,226,365	I48V	probably benign	Het
Prrc2c	T	C	1: 162,710,481	R527G	unknown	Het
Rasgrf2	G	T	13: 91,988,016	N592K	probably damaging	Het
Rbm7	A	G	9: 48,495,174	L26P	probably damaging	Het
Rhag	A	G	17: 40,831,290	H208R	probably benign	Het
Rnf17	A	G	14: 56,434,355	E268G	probably damaging	Het
Rnf220	A	G	4: 117,289,055	V23A	probably benign	Het
Rnf7	A	T	9: 96,478,419	V55D	probably damaging	Het
Sdr9c7	C	A	10: 127,903,579	R188S	possibly damaging	Het
Senp6	T	A	9: 80,089,858	N51K	probably benign	Het
Skint3	C	A	4: 112,255,898	T235K	possibly damaging	Het
Slc10a5	A	G	3: 10,335,036	F188S	probably damaging	Het
Slc41a1	G	A	1: 131,830,952	G111R	probably damaging	Het
Smarca1	T	C	X: 47,884,067	D132G	probably null	Het
Snrnp48	C	T	13: 38,221,323	R299W	probably damaging	Het
Sspo	G	A	6: 48,460,771	G1413D	probably benign	Het
Star	T	A	8: 25,808,616	H16Q	probably damaging	Het
Strc	T	C	2: 121,375,594	D779G	probably benign	Het
Sulf2	T	C	2: 166,089,295	Y264C	probably damaging	Het
Supt7l	A	G	5: 31,522,904	S6P	possibly damaging	Het
Syne2	A	G	12: 76,020,391	D4289G	probably benign	Het
Szrd1	A	T	4: 141,139,690		probably null	Het
Tada1	T	C	1: 166,391,954	V275A	possibly damaging	Het
Tbr1	A	T	2: 61,811,588	Y136F	probably benign	Het
Tbx20	T	A	9: 24,725,714	H359L	probably benign	Het
Thbs4	G	T	13: 92,762,806	D560E	probably damaging	Het
Tnfsf14	T	C	17: 57,190,740	H164R	probably damaging	Het
Trmu	T	C	15: 85,882,805	S72P	probably damaging	Het
Tsnaxip1	C	A	8: 105,833,523	Q36K	probably benign	Het
Ttc28	T	A	5: 111,224,217	M844K	possibly damaging	Het
Tubgcp2	T	C	7: 139,999,288	Y695C	probably damaging	Het
Ugt1a10	T	A	1: 88,056,287	M269K	probably damaging	Het
Urb1	A	T	16: 90,769,555	L1448*	probably null	Het
Vmn2r124	A	T	17: 18,049,593	H37L	probably damaging	Het
Vmn2r44	T	C	7: 8,367,950	N699S	probably damaging	Het
Vps35	A	T	8: 85,278,857		probably null	Het
Yipf1	G	T	4: 107,336,199		probably null	Het
Zfp395	A	G	14: 65,386,541	N153S	possibly damaging	Het
Zfp395	A	G	14: 65,393,207	D402G	probably damaging	Het
Zfp652	T	C	11: 95,749,609	V120A	probably damaging	Het
Zp3r	T	C	1: 130,582,892	I364M	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
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'- AACTGGAGGTTTGGGCCTAAC -3'
(R):5'- GTGTACATGCCAGCTGTCAG -3'

Sequencing Primer
(F):5'- GCCTAACTGTGGAAGGTCC -3'
(R):5'- CTGTCAGAGGCACATAGGTCAC -3'

Posted On

2016-02-04