Mutagenetix > Incidental Mutation

Incidental Mutation 'R2209:Flnb'

239282

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

040211-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2209 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14518185-14651816 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 7905507 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1086 (E1086*)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably null
Transcript: ENSMUST00000052678
AA Change: E1086*

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: E1086*

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,884,227 (GRCm39)	E330G	possibly damaging	Het
Apob	A	C	12: 8,057,752 (GRCm39)	D2078A	probably benign	Het
Arhgap21	T	A	2: 20,854,331 (GRCm39)	Q1681L	probably damaging	Het
Arsb	A	G	13: 93,998,609 (GRCm39)	T306A	probably benign	Het
Brpf3	G	A	17: 29,047,394 (GRCm39)	D1053N	probably damaging	Het
Cenpf	A	T	1: 189,384,795 (GRCm39)	I2495N	probably benign	Het
Col12a1	T	C	9: 79,599,634 (GRCm39)	K840E	possibly damaging	Het
Cry1	A	G	10: 84,982,619 (GRCm39)	L269P	probably damaging	Het
Cyp21a1	C	A	17: 35,021,701 (GRCm39)	E289*	probably null	Het
Dcp2	A	T	18: 44,538,581 (GRCm39)	K215*	probably null	Het
Dnaaf11	A	G	15: 66,321,400 (GRCm39)	I247T	probably benign	Het
Ecm2	A	G	13: 49,683,632 (GRCm39)	N537D	probably damaging	Het
Emid1	G	A	11: 5,085,407 (GRCm39)	T113M	probably benign	Het
Exoc8	C	T	8: 125,622,918 (GRCm39)	W483*	probably null	Het
Fes	A	T	7: 80,030,031 (GRCm39)	N582K	probably damaging	Het
Flnc	T	A	6: 29,455,844 (GRCm39)	D2058E	possibly damaging	Het
Gatb	G	A	3: 85,561,112 (GRCm39)	D543N	probably benign	Het
Gm14412	A	G	2: 177,009,229 (GRCm39)	V9A	probably damaging	Het
Gm4884	T	C	7: 40,692,745 (GRCm39)	V238A	possibly damaging	Het
Igfbp5	A	G	1: 72,913,096 (GRCm39)	V68A	possibly damaging	Het
Igflr1	T	A	7: 30,267,222 (GRCm39)	I330N	probably damaging	Het
Il1r2	A	G	1: 40,154,298 (GRCm39)	T222A	probably benign	Het
Krt87	T	C	15: 101,330,989 (GRCm39)	E419G	probably benign	Het
Lman2	A	G	13: 55,499,315 (GRCm39)	S187P	probably damaging	Het
Mrpl38	T	C	11: 116,029,288 (GRCm39)	E76G	possibly damaging	Het
Mtx3	A	G	13: 92,984,112 (GRCm39)	I130V	probably benign	Het
Naf1	T	G	8: 67,313,188 (GRCm39)		probably benign	Het
Nkx2-1	T	G	12: 56,580,293 (GRCm39)	M216L	probably benign	Het
Notch1	C	A	2: 26,350,019 (GRCm39)	V2374L	probably benign	Het
Nrxn2	A	G	19: 6,543,037 (GRCm39)	D1087G	probably benign	Het
Nudt8	T	C	19: 4,051,902 (GRCm39)	F171S	probably damaging	Het
Or5an1	T	G	19: 12,261,224 (GRCm39)	F271V	probably benign	Het
Pds5a	A	T	5: 65,785,357 (GRCm39)	C916*	probably null	Het
Phyhip	A	T	14: 70,699,334 (GRCm39)	N46Y	probably damaging	Het
Pomt1	A	G	2: 32,140,874 (GRCm39)	Y502C	possibly damaging	Het
Prkcg	A	C	7: 3,352,097 (GRCm39)		probably benign	Het
Prl8a6	C	T	13: 27,619,369 (GRCm39)	E118K	probably benign	Het
Prpf39	T	C	12: 65,104,689 (GRCm39)		probably null	Het
Ptprb	A	G	10: 116,205,262 (GRCm39)	H2159R	probably damaging	Het
Ripor2	A	T	13: 24,885,595 (GRCm39)	D571V	probably damaging	Het
Rps19	C	T	7: 24,584,552 (GRCm39)	L34F	probably benign	Het
Rusc1	A	G	3: 88,996,128 (GRCm39)	S145P	probably damaging	Het
Scn4a	T	A	11: 106,230,051 (GRCm39)	T586S	probably damaging	Het
Slc7a12	A	G	3: 14,546,124 (GRCm39)	S90G	possibly damaging	Het
Specc1l	A	G	10: 75,082,410 (GRCm39)	D619G	probably damaging	Het
Src	A	G	2: 157,304,710 (GRCm39)	D143G	probably benign	Het
Sst	T	C	16: 23,708,558 (GRCm39)	N91S	probably benign	Het
Stxbp5l	T	A	16: 37,036,398 (GRCm39)	I406F	probably damaging	Het
Thsd1	T	A	8: 22,748,887 (GRCm39)	I525N	probably damaging	Het
Ticam2	A	T	18: 46,693,467 (GRCm39)	F207I	probably damaging	Het
Tsc22d1	C	A	14: 76,656,180 (GRCm39)	N31K	probably damaging	Het
Tspan10	T	C	11: 120,336,989 (GRCm39)	V253A	probably benign	Het
Ttc33	A	G	15: 5,237,924 (GRCm39)	K99R	possibly damaging	Het
Vmn1r63	T	A	7: 5,806,212 (GRCm39)	N140I	probably damaging	Het
Yju2b	C	T	8: 84,990,498 (GRCm39)	V45I	probably benign	Het
Zbtb25	A	G	12: 76,395,903 (GRCm39)	*440Q	probably null	Het
Zfhx4	T	A	3: 5,461,978 (GRCm39)	C1218S	probably damaging	Het
Zfp84	T	A	7: 29,476,607 (GRCm39)	I433N	probably damaging	Het

Other mutations in Flnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Flnb	APN	14	7,917,390 (GRCm38)	splice site	probably benign
IGL01063:Flnb	APN	14	7,926,518 (GRCm38)	splice site	probably benign
IGL01135:Flnb	APN	14	7,909,736 (GRCm38)	missense	probably benign
IGL01139:Flnb	APN	14	7,945,989 (GRCm38)	missense	probably damaging	1.00
IGL01364:Flnb	APN	14	7,934,562 (GRCm38)	critical splice acceptor site	probably null
IGL01417:Flnb	APN	14	7,905,513 (GRCm38)	missense	probably damaging	0.99
IGL01505:Flnb	APN	14	7,902,003 (GRCm38)	critical splice donor site	probably null
IGL01560:Flnb	APN	14	7,893,829 (GRCm38)	missense	probably benign	0.07
IGL01621:Flnb	APN	14	7,950,470 (GRCm38)	missense	probably damaging	1.00
IGL01656:Flnb	APN	14	7,902,010 (GRCm38)	splice site	probably benign
IGL01889:Flnb	APN	14	7,935,967 (GRCm38)	missense	possibly damaging	0.85
IGL01987:Flnb	APN	14	7,922,748 (GRCm38)	critical splice donor site	probably null
IGL02322:Flnb	APN	14	7,894,676 (GRCm38)	missense	probably damaging	1.00
IGL02496:Flnb	APN	14	7,930,919 (GRCm38)	splice site	probably benign
IGL02752:Flnb	APN	14	7,917,338 (GRCm38)	missense	probably benign
IGL03001:Flnb	APN	14	7,934,680 (GRCm38)	missense	probably damaging	0.99
IGL03076:Flnb	APN	14	7,901,988 (GRCm38)	missense	probably benign	0.01
IGL03085:Flnb	APN	14	7,882,211 (GRCm38)	missense	probably benign
IGL03170:Flnb	APN	14	7,818,261 (GRCm38)	missense	possibly damaging	0.90
IGL03373:Flnb	APN	14	7,890,867 (GRCm38)	critical splice donor site	probably null
Boomerang	UTSW	14	7,901,945 (GRCm38)	missense	probably damaging	1.00
Queensland	UTSW	14	7,927,352 (GRCm38)	missense	probably damaging	1.00
R3437_Flnb_252	UTSW	14	7,942,057 (GRCm38)	missense	probably damaging	0.97
R8441_Flnb_221	UTSW	14	7,896,488 (GRCm38)	missense	probably benign	0.15
Rhodelinda	UTSW	14	7,887,682 (GRCm38)	splice site	probably benign
saul	UTSW	14	7,889,183 (GRCm38)	missense	probably damaging	0.99
Xerxes	UTSW	14	7,867,551 (GRCm38)	missense	probably damaging	1.00
R0068:Flnb	UTSW	14	7,915,290 (GRCm38)	missense	possibly damaging	0.49
R0068:Flnb	UTSW	14	7,915,290 (GRCm38)	missense	possibly damaging	0.49
R0084:Flnb	UTSW	14	7,935,979 (GRCm38)	missense	probably benign
R0128:Flnb	UTSW	14	7,901,951 (GRCm38)	missense	probably damaging	0.99
R0130:Flnb	UTSW	14	7,901,951 (GRCm38)	missense	probably damaging	0.99
R0148:Flnb	UTSW	14	7,939,077 (GRCm38)	missense	probably benign	0.01
R0166:Flnb	UTSW	14	7,896,115 (GRCm38)	missense	probably damaging	1.00
R0376:Flnb	UTSW	14	7,946,014 (GRCm38)	critical splice donor site	probably null
R0547:Flnb	UTSW	14	7,912,943 (GRCm38)	splice site	probably null
R0612:Flnb	UTSW	14	7,887,682 (GRCm38)	splice site	probably benign
R0656:Flnb	UTSW	14	7,927,352 (GRCm38)	missense	probably damaging	1.00
R0691:Flnb	UTSW	14	7,890,810 (GRCm38)	missense	probably benign	0.16
R1241:Flnb	UTSW	14	7,896,503 (GRCm38)	missense	probably benign	0.06
R1572:Flnb	UTSW	14	7,883,908 (GRCm38)	missense	probably damaging	0.97
R1682:Flnb	UTSW	14	7,913,121 (GRCm38)	missense	probably benign	0.04
R1807:Flnb	UTSW	14	7,934,645 (GRCm38)	missense	probably benign	0.26
R1848:Flnb	UTSW	14	7,892,113 (GRCm38)	missense	probably damaging	1.00
R1959:Flnb	UTSW	14	7,884,735 (GRCm38)	nonsense	probably null
R2078:Flnb	UTSW	14	7,927,466 (GRCm38)	missense	probably damaging	1.00
R2132:Flnb	UTSW	14	7,873,376 (GRCm38)	missense	probably benign	0.04
R2212:Flnb	UTSW	14	7,881,652 (GRCm38)	small deletion	probably benign
R2213:Flnb	UTSW	14	7,881,652 (GRCm38)	small deletion	probably benign
R2363:Flnb	UTSW	14	7,945,950 (GRCm38)	missense	possibly damaging	0.95
R2415:Flnb	UTSW	14	7,929,932 (GRCm38)	missense	probably benign	0.07
R2983:Flnb	UTSW	14	7,882,250 (GRCm38)	missense	probably damaging	1.00
R3001:Flnb	UTSW	14	7,907,162 (GRCm38)	missense	probably benign	0.22
R3002:Flnb	UTSW	14	7,907,162 (GRCm38)	missense	probably benign	0.22
R3436:Flnb	UTSW	14	7,942,057 (GRCm38)	missense	probably damaging	0.97
R3437:Flnb	UTSW	14	7,942,057 (GRCm38)	missense	probably damaging	0.97
R3778:Flnb	UTSW	14	7,915,353 (GRCm38)	missense	probably benign	0.06
R3783:Flnb	UTSW	14	7,889,236 (GRCm38)	missense	probably benign	0.04
R4162:Flnb	UTSW	14	7,915,374 (GRCm38)	missense	possibly damaging	0.81
R4163:Flnb	UTSW	14	7,915,374 (GRCm38)	missense	possibly damaging	0.81
R4164:Flnb	UTSW	14	7,915,374 (GRCm38)	missense	possibly damaging	0.81
R4356:Flnb	UTSW	14	7,922,700 (GRCm38)	missense	probably benign
R4369:Flnb	UTSW	14	7,942,216 (GRCm38)	missense	probably benign
R4783:Flnb	UTSW	14	7,905,701 (GRCm38)	missense	probably benign	0.12
R4785:Flnb	UTSW	14	7,905,701 (GRCm38)	missense	probably benign	0.12
R4790:Flnb	UTSW	14	7,905,661 (GRCm38)	missense	probably benign	0.34
R4828:Flnb	UTSW	14	7,919,238 (GRCm38)	missense	probably benign	0.13
R4882:Flnb	UTSW	14	7,929,936 (GRCm38)	missense	possibly damaging	0.56
R5002:Flnb	UTSW	14	7,945,882 (GRCm38)	missense	probably damaging	1.00
R5058:Flnb	UTSW	14	7,924,262 (GRCm38)	nonsense	probably null
R5184:Flnb	UTSW	14	7,901,945 (GRCm38)	missense	probably damaging	1.00
R5186:Flnb	UTSW	14	7,909,748 (GRCm38)	missense	probably damaging	1.00
R5395:Flnb	UTSW	14	7,883,881 (GRCm38)	missense	probably benign	0.02
R5421:Flnb	UTSW	14	7,926,494 (GRCm38)	missense	probably damaging	1.00
R5667:Flnb	UTSW	14	7,890,843 (GRCm38)	missense	probably benign	0.00
R5671:Flnb	UTSW	14	7,890,843 (GRCm38)	missense	probably benign	0.00
R5714:Flnb	UTSW	14	7,929,073 (GRCm38)	missense	probably damaging	1.00
R5860:Flnb	UTSW	14	7,931,135 (GRCm38)	missense	probably damaging	1.00
R5892:Flnb	UTSW	14	7,907,183 (GRCm38)	missense	probably damaging	1.00
R5924:Flnb	UTSW	14	7,890,765 (GRCm38)	missense	probably benign	0.00
R6131:Flnb	UTSW	14	7,894,635 (GRCm38)	missense	possibly damaging	0.79
R6244:Flnb	UTSW	14	7,892,092 (GRCm38)	missense	probably damaging	1.00
R6489:Flnb	UTSW	14	7,867,551 (GRCm38)	missense	probably damaging	1.00
R6582:Flnb	UTSW	14	7,892,275 (GRCm38)	critical splice donor site	probably null
R6586:Flnb	UTSW	14	7,929,138 (GRCm38)	missense	possibly damaging	0.93
R6611:Flnb	UTSW	14	7,915,318 (GRCm38)	missense	probably damaging	1.00
R6626:Flnb	UTSW	14	7,929,012 (GRCm38)	missense	probably damaging	1.00
R6700:Flnb	UTSW	14	7,892,189 (GRCm38)	missense	probably damaging	0.99
R6738:Flnb	UTSW	14	7,904,536 (GRCm38)	missense	probably benign	0.01
R6864:Flnb	UTSW	14	7,905,640 (GRCm38)	missense	possibly damaging	0.84
R6916:Flnb	UTSW	14	7,907,171 (GRCm38)	missense	probably damaging	0.99
R7117:Flnb	UTSW	14	7,894,214 (GRCm38)	missense	probably benign	0.02
R7164:Flnb	UTSW	14	7,915,944 (GRCm38)	splice site	probably null
R7328:Flnb	UTSW	14	7,894,660 (GRCm38)	nonsense	probably null
R7328:Flnb	UTSW	14	7,883,788 (GRCm38)	missense	possibly damaging	0.95
R7687:Flnb	UTSW	14	7,924,224 (GRCm38)	missense	probably damaging	1.00
R7716:Flnb	UTSW	14	7,917,274 (GRCm38)	missense	possibly damaging	0.64
R7763:Flnb	UTSW	14	7,926,478 (GRCm38)	missense	probably benign	0.00
R7821:Flnb	UTSW	14	7,939,113 (GRCm38)	missense	probably benign	0.00
R7921:Flnb	UTSW	14	7,933,800 (GRCm38)	missense	possibly damaging	0.57
R8008:Flnb	UTSW	14	7,892,155 (GRCm38)	missense	probably damaging	1.00
R8075:Flnb	UTSW	14	7,913,048 (GRCm38)	missense	probably benign	0.00
R8084:Flnb	UTSW	14	7,907,243 (GRCm38)	missense	probably benign	0.00
R8259:Flnb	UTSW	14	7,889,183 (GRCm38)	missense	probably damaging	0.99
R8441:Flnb	UTSW	14	7,896,488 (GRCm38)	missense	probably benign	0.15
R8493:Flnb	UTSW	14	7,869,822 (GRCm38)	missense	probably damaging	0.97
R8508:Flnb	UTSW	14	7,950,394 (GRCm38)	missense	probably damaging	0.98
R8531:Flnb	UTSW	14	7,929,939 (GRCm38)	missense	probably damaging	1.00
R8812:Flnb	UTSW	14	7,887,624 (GRCm38)	missense	probably benign	0.06
R8814:Flnb	UTSW	14	7,927,409 (GRCm38)	missense	probably damaging	1.00
R8825:Flnb	UTSW	14	7,887,566 (GRCm38)	missense	probably damaging	1.00
R8868:Flnb	UTSW	14	7,908,671 (GRCm38)	missense	probably benign	0.02
R8955:Flnb	UTSW	14	7,904,688 (GRCm38)	nonsense	probably null
R8955:Flnb	UTSW	14	7,892,874 (GRCm38)	missense	probably damaging	1.00
R8976:Flnb	UTSW	14	7,901,882 (GRCm38)	critical splice acceptor site	probably null
R9055:Flnb	UTSW	14	7,908,553 (GRCm38)	missense	probably benign	0.00
R9148:Flnb	UTSW	14	7,817,996 (GRCm38)	start gained	probably benign
R9179:Flnb	UTSW	14	7,887,541 (GRCm38)	nonsense	probably null
R9180:Flnb	UTSW	14	7,818,219 (GRCm38)	missense	probably damaging	1.00
R9189:Flnb	UTSW	14	7,892,976 (GRCm38)	missense	possibly damaging	0.90
R9286:Flnb	UTSW	14	7,873,414 (GRCm38)	missense	probably damaging	0.98
R9288:Flnb	UTSW	14	7,904,498 (GRCm38)	missense	probably benign	0.43
R9354:Flnb	UTSW	14	7,818,411 (GRCm38)	missense	probably benign	0.13
R9484:Flnb	UTSW	14	7,929,004 (GRCm38)	missense	probably benign	0.06
R9505:Flnb	UTSW	14	7,904,665 (GRCm38)	missense	probably benign
R9525:Flnb	UTSW	14	7,905,481 (GRCm38)	missense	probably damaging	1.00
R9621:Flnb	UTSW	14	7,926,421 (GRCm38)	missense	probably damaging	0.99
R9630:Flnb	UTSW	14	7,926,438 (GRCm38)	nonsense	probably null
R9739:Flnb	UTSW	14	7,935,954 (GRCm38)	nonsense	probably null
R9760:Flnb	UTSW	14	7,929,846 (GRCm38)	missense	probably damaging	0.98
X0066:Flnb	UTSW	14	7,908,636 (GRCm38)	missense	probably damaging	1.00
Z1088:Flnb	UTSW	14	7,905,871 (GRCm38)	missense	probably benign	0.04
Z1176:Flnb	UTSW	14	7,942,066 (GRCm38)	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- TGACTGGTCAGCAGTAGCAG -3'
(R):5'- CCCTGCTTCTGAACAATCAACG -3'

Sequencing Primer
(F):5'- GTCAGCAGTAGCAGCCACAG -3'
(R):5'- AAAGGATTCCGGGTTCACC -3'

Posted On

2014-10-15