Mutagenetix > Incidental Mutation

Incidental Mutation 'R0612:Flnb'

54838

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

038801-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0612 (G1)

Quality Score

207

Status

Validated

Chromosome

Chromosomal Location

7817957-7951588 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 7887682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably benign
Transcript: ENSMUST00000052678

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228206

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.6%
3x: 99.0%
10x: 97.2%
20x: 93.5%

Validation Efficiency

98% (92/94)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	G	11: 58,611,973		probably null	Het
Abca15	T	C	7: 120,337,255	L181P	probably damaging	Het
Aldh3a1	A	T	11: 61,214,619	I184F	probably damaging	Het
Arl6ip4	A	G	5: 124,116,533	S30G	probably benign	Het
Atp9b	T	C	18: 80,753,956	E891G	possibly damaging	Het
Brsk1	T	C	7: 4,707,426	L478P	possibly damaging	Het
Btaf1	G	A	19: 36,969,137	V448I	probably damaging	Het
C330027C09Rik	C	T	16: 48,999,039	A112V	probably benign	Het
Cab39	T	C	1: 85,818,515		probably null	Het
Cacna2d4	G	T	6: 119,281,718		probably benign	Het
Capzb	C	T	4: 139,291,029	S253L	probably benign	Het
Ccdc174	A	G	6: 91,890,892		probably benign	Het
Ccdc180	C	T	4: 45,927,969	A1168V	probably damaging	Het
Cdh19	T	C	1: 110,893,170		probably benign	Het
Cdh8	T	C	8: 99,400,914	T22A	probably benign	Het
Cdk10	T	C	8: 123,230,680	V181A	probably benign	Het
Ceacam15	A	C	7: 16,673,520	L24*	probably null	Het
Cftr	A	C	6: 18,198,126	T20P	probably benign	Het
Clstn3	T	C	6: 124,449,500	T576A	probably damaging	Het
Col1a2	G	A	6: 4,516,003	V165I	unknown	Het
Copg2	A	T	6: 30,861,469		probably null	Het
Cps1	A	G	1: 67,139,770	H47R	probably benign	Het
Cytip	T	C	2: 58,134,190	D206G	possibly damaging	Het
Dnmt1	C	T	9: 20,918,193	E824K	probably damaging	Het
Dock7	A	C	4: 98,989,233	V442G	probably benign	Het
Dsc1	T	G	18: 20,114,516	K14T	probably damaging	Het
Dync1h1	C	T	12: 110,616,496	P371L	probably damaging	Het
Enah	A	G	1: 181,906,448		probably benign	Het
Fam189a1	C	T	7: 64,761,801	V395M	probably benign	Het
Fastkd1	T	C	2: 69,712,383	T27A	probably benign	Het
Fcho1	A	G	8: 71,715,524	L248P	probably damaging	Het
Fezf1	A	T	6: 23,247,029	V268D	probably damaging	Het
Fgd2	T	A	17: 29,378,347	V547E	probably benign	Het
Gabrg3	A	G	7: 56,729,706	M316T	probably damaging	Het
Gigyf2	T	C	1: 87,449,080	F1265L	probably damaging	Het
Git2	A	G	5: 114,752,281	S271P	probably damaging	Het
Gm13103	G	T	4: 143,852,088		probably benign	Het
Gm14085	T	C	2: 122,521,698	M339T	probably damaging	Het
Gorab	T	C	1: 163,397,169	D21G	possibly damaging	Het
Gpr179	T	A	11: 97,338,438	T964S	possibly damaging	Het
Hdac5	A	G	11: 102,196,252	V1042A	possibly damaging	Het
Hoxa2	T	A	6: 52,163,560	T149S	probably damaging	Het
Igsf8	G	T	1: 172,319,407	*108L	probably null	Het
Il1rap	C	T	16: 26,701,105	T307M	possibly damaging	Het
Itih2	T	C	2: 10,117,394	D232G	probably benign	Het
Jak3	A	G	8: 71,683,377	Y607C	probably damaging	Het
Kcnh1	C	T	1: 192,277,053	P305L	probably damaging	Het
Lrrc7	T	A	3: 158,164,353	I644F	probably damaging	Het
Lrrn2	T	C	1: 132,937,728	L177P	probably damaging	Het
Map4k3	C	A	17: 80,602,193	K712N	probably damaging	Het
Med11	A	G	11: 70,452,084	T36A	probably benign	Het
Mmp14	A	G	14: 54,440,434	D504G	probably damaging	Het
Mob1a	A	G	6: 83,334,158	T120A	probably benign	Het
Mr1	T	A	1: 155,137,690	D47V	probably damaging	Het
Nacad	G	T	11: 6,601,382	A603E	possibly damaging	Het
Nwd1	T	A	8: 72,667,680	W524R	probably damaging	Het
Olfr1508	T	C	14: 52,463,551	T153A	probably benign	Het
Olfr525	T	A	7: 140,323,188	M163K	possibly damaging	Het
Olfr742	A	T	14: 50,515,482	T93S	probably benign	Het
Parp14	G	A	16: 35,856,760	A946V	probably benign	Het
Pde6c	T	A	19: 38,133,246	C101S	probably benign	Het
Pdia3	G	A	2: 121,432,377	G275S	probably damaging	Het
Pdlim4	G	A	11: 54,068,887	R16C	probably damaging	Het
Pet2	G	A	X: 89,405,366	R386*	probably null	Het
Pfkp	A	G	13: 6,605,634		probably null	Het
Plcg2	T	A	8: 117,573,365	S225T	probably benign	Het
Pramel1	T	C	4: 143,397,531	S259P	probably damaging	Het
Rc3h2	T	C	2: 37,411,215	N92D	possibly damaging	Het
Ric8b	C	A	10: 85,001,881	N517K	probably damaging	Het
Rnf34	G	A	5: 122,864,174	R65H	probably damaging	Het
Rraga	C	T	4: 86,576,327	R137C	probably damaging	Het
Scube2	C	T	7: 109,804,764		probably benign	Het
Spata31d1d	T	C	13: 59,727,973	I583V	probably benign	Het
Suox	T	C	10: 128,670,656	E501G	probably benign	Het
Susd1	A	G	4: 59,390,561		probably benign	Het
Tac1	T	C	6: 7,555,653	S14P	probably damaging	Het
Tbc1d8	T	C	1: 39,372,515	E1080G	possibly damaging	Het
Tll1	A	C	8: 64,071,310	S447R	possibly damaging	Het
Tmem132e	G	A	11: 82,443,372	V662M	probably damaging	Het
Upf2	G	T	2: 6,034,098		probably benign	Het
Uspl1	A	G	5: 149,214,957	E989G	probably damaging	Het
Vmn1r58	T	C	7: 5,410,619	H204R	probably damaging	Het
Vmn2r25	A	T	6: 123,839,522	C367S	probably damaging	Het
Vps13b	A	T	15: 35,623,657	Q1240L	probably benign	Het
Xrcc1	C	T	7: 24,570,319		probably benign	Het
Yeats2	T	G	16: 20,186,425	V385G	probably benign	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
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
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'- TGTAGCCTGCAACCCAAATGCC -3'
(R):5'- GGGAGGGATATGTTGTCCTCAAAGC -3'

Sequencing Primer
(F):5'- GACTTTAAGGTGGACACCAAGG -3'
(R):5'- GTCAAACCACTCACTGGTCTTG -3'

Posted On

2013-07-11