Mutagenetix > Incidental Mutation

Incidental Mutation 'R2132:Flnb'

233443

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

040135-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7817957-7951588 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7873376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 224 (D224A)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably benign
Transcript: ENSMUST00000052678
AA Change: D224A

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: D224A

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

0.3646

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

94% (117/124)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 87,964,476		probably benign	Het
4930562C15Rik	A	C	16: 4,835,971	Q128P	unknown	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
9130019O22Rik	T	C	7: 127,386,935	D8G	probably benign	Het
9530053A07Rik	C	T	7: 28,155,474	P1842S	probably damaging	Het
Abcc3	T	A	11: 94,367,600	K473M	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,209,767		probably null	Het
Adgrg7	C	A	16: 56,767,918	A199S	probably damaging	Het
Akap13	G	T	7: 75,611,434	A1269S	probably benign	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Ap2b1	T	A	11: 83,324,761		probably benign	Het
Atat1	A	G	17: 35,909,439	S54P	probably damaging	Het
Atp13a2	T	A	4: 141,005,016	M864K	probably damaging	Het
B3gnt3	G	A	8: 71,693,327	T186M	probably damaging	Het
Cars	C	A	7: 143,592,474	R71M	probably damaging	Het
Ccdc157	A	T	11: 4,150,004	V116E	probably damaging	Het
Ccdc85a	G	A	11: 28,434,151	T408I	probably benign	Het
Celf1	G	T	2: 91,010,446	G353W	probably damaging	Het
Celsr1	T	A	15: 86,031,967	I602F	possibly damaging	Het
Cenpb	C	T	2: 131,179,306	V191M	probably damaging	Het
Cenpn	G	A	8: 116,934,797		probably null	Het
Cfap65	A	C	1: 74,907,691	C1287G	probably damaging	Het
Cmya5	G	A	13: 93,069,383	T3326I	probably damaging	Het
Cnn3	A	T	3: 121,451,935	E100V	probably damaging	Het
Col4a4	G	A	1: 82,497,860	R583C	unknown	Het
Commd7	A	C	2: 153,621,666		probably benign	Het
Csmd3	T	C	15: 48,457,503	T304A	probably benign	Het
Cyp4a14	A	T	4: 115,491,391	S325R	probably damaging	Het
D730048I06Rik	T	G	9: 35,789,743		probably benign	Het
Dclk2	T	C	3: 86,920,046	N42S	probably benign	Het
Dmrta1	A	T	4: 89,688,709	Q134L	probably damaging	Het
Dnaaf3	T	A	7: 4,523,801	I426L	probably benign	Het
Dnah17	G	A	11: 118,033,747	L3999F	probably damaging	Het
Dock6	A	G	9: 21,846,518	S97P	probably benign	Het
Dsg1a	T	A	18: 20,340,797	S976T	probably damaging	Het
Dstyk	T	A	1: 132,449,484	M29K	probably null	Het
Eif3i	A	T	4: 129,596,926	H18Q	probably benign	Het
Epm2a	A	G	10: 11,343,682	E71G	probably benign	Het
Eps15l1	A	T	8: 72,386,868	V260D	probably benign	Het
Faf1	A	G	4: 109,710,845	N34S	probably damaging	Het
Fat3	A	G	9: 16,246,719		probably null	Het
Fbxw10	T	A	11: 62,859,857	I422N	probably damaging	Het
Fkbp15	C	A	4: 62,327,899	G431W	probably damaging	Het
Flnc	G	A	6: 29,443,676	V566M	probably damaging	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gli3	T	A	13: 15,725,549	S1174T	possibly damaging	Het
Glmn	A	T	5: 107,578,455	V93E	probably damaging	Het
Glrx2	T	C	1: 143,745,104	S74P	possibly damaging	Het
Gm13212	T	A	4: 145,624,233		probably benign	Het
Gm5422	G	A	10: 31,248,933		noncoding transcript	Het
Gpi1	T	C	7: 34,205,914	K362E	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202	M21T	probably benign	Het
Gxylt1	A	G	15: 93,244,970	*405R	probably null	Het
Heyl	T	C	4: 123,246,083	V145A	probably damaging	Het
Hhipl1	A	C	12: 108,311,690	E92D	probably damaging	Het
Ifi207	A	G	1: 173,729,771	F467S	possibly damaging	Het
Igf2r	A	T	17: 12,722,208	I462N	probably benign	Het
Inpp5b	A	T	4: 124,785,168		probably benign	Het
Kansl2	A	G	15: 98,529,397	I201T	probably damaging	Het
Kcnh8	T	C	17: 52,893,933	V465A	probably damaging	Het
Kcnu1	T	A	8: 25,851,900	I91N	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Klrc3	T	A	6: 129,641,538	Y94F	probably benign	Het
Lgals3bp	T	A	11: 118,393,287	T489S	probably benign	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Magel2	A	T	7: 62,377,738	H130L	unknown	Het
Magi1	T	C	6: 93,697,274	E951G	probably damaging	Het
Mcm7	T	C	5: 138,169,102	Q86R	probably damaging	Het
Med12l	G	T	3: 59,265,282		probably null	Het
Morc2a	A	G	11: 3,679,787	E402G	possibly damaging	Het
Mphosph8	T	C	14: 56,678,704	C486R	probably benign	Het
Mpo	A	G	11: 87,797,361	D282G	possibly damaging	Het
Mtcl1	G	T	17: 66,343,623	H1616N	probably benign	Het
Myh10	A	G	11: 68,807,289		probably benign	Het
Myh8	A	G	11: 67,292,876	E777G	probably damaging	Het
Nid1	A	G	13: 13,509,486	H1186R	probably benign	Het
Nppb	T	A	4: 147,985,997	S8T	probably benign	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935		probably benign	Het
Olfr1039	A	G	2: 86,131,261	V134A	possibly damaging	Het
Olfr1451	T	A	19: 12,999,038	D17E	probably benign	Het
Olfr308	C	T	7: 86,321,479	V158M	possibly damaging	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr356	A	G	2: 36,937,692	N191S	probably benign	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Osbpl6	T	A	2: 76,586,214	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308	V212A	probably damaging	Het
Pdlim4	A	G	11: 54,063,737	L48S	possibly damaging	Het
Phactr3	T	C	2: 178,283,966	F345L	probably benign	Het
Plcb1	T	A	2: 135,325,667	Y460*	probably null	Het
Prcp	T	A	7: 92,901,280	V95D	probably benign	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Ror1	A	G	4: 100,410,025	N308D	probably benign	Het
Sdccag8	C	A	1: 176,955,889	Q655K	probably damaging	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Skap1	T	C	11: 96,464,733	I10T	possibly damaging	Het
Slc9a4	T	G	1: 40,607,741		probably null	Het
Smad2	T	A	18: 76,288,084	C161*	probably null	Het
Spata31d1a	G	T	13: 59,701,043	D1090E	probably damaging	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Tdrd6	T	C	17: 43,624,833	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,208,645	T595S	probably benign	Het
Terf1	A	G	1: 15,805,685	E3G	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tnfrsf26	C	T	7: 143,617,840		probably null	Het
Tor1aip1	A	C	1: 156,007,562	M180R	probably damaging	Het
Trabd2b	A	T	4: 114,610,008	Q478L	probably benign	Het
Trim41	C	A	11: 48,807,592	G516W	probably damaging	Het
Ttc30b	G	T	2: 75,936,785	H541Q	probably damaging	Het
Ttc39a	A	G	4: 109,442,706	Y464C	probably damaging	Het
Unc5a	A	G	13: 54,991,083	S92G	probably damaging	Het
Unc5d	A	C	8: 28,875,529	S143A	possibly damaging	Het
Usp34	A	T	11: 23,464,556	H2833L	possibly damaging	Het
Wdr17	T	G	8: 54,672,506	K446N	probably damaging	Het
Xirp2	A	T	2: 67,508,048	Q211L	possibly damaging	Het
Xkr7	G	A	2: 153,052,896	R256Q	probably benign	Het
Zfp236	T	C	18: 82,621,304	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp758	A	G	17: 22,375,970	H479R	probably damaging	Het
Zfp827	A	G	8: 79,185,721	N284S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly 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
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'- CTGGAAATCTTGGGAGGTCTTC -3'
(R):5'- TAATGGCAGAGCGTTCCTCC -3'

Sequencing Primer
(F):5'- GTCTTCCACCCTTGCAGAGG -3'
(R):5'- TTCCTCCCAGAGCTAACGG -3'

Posted On

2014-10-01