Mutagenetix > Incidental Mutation

Incidental Mutation 'R0130:Flnb'

50119

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

038415-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0130 (G1)

Quality Score

214

Status

Validated (trace)

Chromosome

Chromosomal Location

14518185-14651816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7901951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 938 (V938A)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably damaging
Transcript: ENSMUST00000052678
AA Change: V938A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: V938A

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

0.3388

Coding Region Coverage

1x: 99.0%
3x: 97.7%
10x: 93.4%
20x: 80.2%

Validation Efficiency

99% (84/85)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	T	17: 84,994,094 (GRCm39)	Y37F	probably damaging	Het
Ablim2	G	A	5: 35,966,520 (GRCm39)		probably benign	Het
Anxa9	A	G	3: 95,209,733 (GRCm39)	S129P	probably benign	Het
Apol7c	A	G	15: 77,410,562 (GRCm39)	I128T	possibly damaging	Het
Arfgef2	T	G	2: 166,677,639 (GRCm39)	I88S	probably damaging	Het
Arfip2	A	G	7: 105,288,205 (GRCm39)		probably benign	Het
Atp5mf	A	T	5: 145,124,992 (GRCm39)		probably benign	Het
Atp7b	C	T	8: 22,518,188 (GRCm39)	E205K	possibly damaging	Het
Atp8b5	T	A	4: 43,369,715 (GRCm39)		probably null	Het
Cd22	A	G	7: 30,569,389 (GRCm39)	Y402H	possibly damaging	Het
Cd248	A	G	19: 5,119,990 (GRCm39)	T613A	probably benign	Het
Cdcp2	C	T	4: 106,963,904 (GRCm39)		probably benign	Het
Cenpc1	A	T	5: 86,194,405 (GRCm39)	D120E	probably benign	Het
Chd3	T	A	11: 69,250,656 (GRCm39)	H691L	probably damaging	Het
Colec12	C	T	18: 9,858,921 (GRCm39)	P568L	unknown	Het
Cped1	T	A	6: 22,121,038 (GRCm39)	Y373N	probably benign	Het
Cr2	A	T	1: 194,848,539 (GRCm39)	V328D	probably damaging	Het
Ctnnd2	A	T	15: 30,922,059 (GRCm39)	E895V	probably damaging	Het
D630045J12Rik	A	T	6: 38,126,706 (GRCm39)		probably benign	Het
Dcdc2a	A	T	13: 25,371,655 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,585,108 (GRCm39)	T837K	probably benign	Het
Eif2ak3	C	A	6: 70,858,716 (GRCm39)		probably benign	Het
Epb41l5	A	C	1: 119,477,632 (GRCm39)	V705G	possibly damaging	Het
Fat2	T	A	11: 55,142,944 (GRCm39)	M4302L	probably benign	Het
Frmd4a	T	C	2: 4,608,903 (GRCm39)	Y928H	probably damaging	Het
Fyn	C	T	10: 39,387,978 (GRCm39)	T78M	probably benign	Het
Gdap2	A	G	3: 100,109,311 (GRCm39)	T443A	probably damaging	Het
Gde1	A	T	7: 118,294,283 (GRCm39)	F63L	probably benign	Het
Gjc3	A	G	5: 137,956,202 (GRCm39)	S28P	probably benign	Het
Gm10250	G	A	15: 5,150,473 (GRCm39)		probably null	Het
Hp1bp3	C	T	4: 137,964,520 (GRCm39)	S348F	probably damaging	Het
Klhl23	T	C	2: 69,664,310 (GRCm39)	V553A	probably damaging	Het
Lman2l	G	T	1: 36,463,945 (GRCm39)	S171*	probably null	Het
Lrp1b	T	C	2: 41,401,520 (GRCm39)	D378G	probably damaging	Het
Map3k11	T	C	19: 5,740,843 (GRCm39)	L190P	probably damaging	Het
Mki67	T	A	7: 135,298,188 (GRCm39)	Q2282L	probably damaging	Het
Mthfd2	T	A	6: 83,285,990 (GRCm39)	I272F	probably damaging	Het
Myom1	A	T	17: 71,352,750 (GRCm39)	D358V	probably damaging	Het
Nebl	T	C	2: 17,395,737 (GRCm39)		probably benign	Het
Nebl	T	A	2: 17,397,834 (GRCm39)	Q487H	possibly damaging	Het
Nlrp2	T	A	7: 5,325,417 (GRCm39)	N14Y	possibly damaging	Het
Or14a258	T	C	7: 86,035,514 (GRCm39)	Y118C	probably damaging	Het
Or1j11	T	A	2: 36,312,299 (GRCm39)	D296E	probably benign	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5ak22	T	A	2: 85,230,305 (GRCm39)	S191C	probably damaging	Het
Or8k40	T	C	2: 86,584,231 (GRCm39)	M284V	probably benign	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Paxip1	C	T	5: 27,949,183 (GRCm39)		probably benign	Het
Pclo	A	G	5: 14,729,811 (GRCm39)		probably benign	Het
Pld2	T	G	11: 70,445,174 (GRCm39)	N591K	probably benign	Het
Plekha7	A	G	7: 115,769,939 (GRCm39)	M276T	probably damaging	Het
Prss39	T	A	1: 34,541,281 (GRCm39)		probably benign	Het
Prtg	A	G	9: 72,716,998 (GRCm39)	Y113C	probably damaging	Het
Rab38	T	A	7: 88,099,749 (GRCm39)	I88N	probably damaging	Het
Rbfox2	A	G	15: 76,976,057 (GRCm39)		probably benign	Het
Samd5	A	G	10: 9,550,683 (GRCm39)	W9R	probably damaging	Het
Sec14l1	A	T	11: 117,047,233 (GRCm39)	K637I	possibly damaging	Het
Sh2b1	A	T	7: 126,070,620 (GRCm39)	D360E	possibly damaging	Het
Sh3bp4	A	G	1: 89,073,036 (GRCm39)	N628S	possibly damaging	Het
Sim1	A	T	10: 50,784,057 (GRCm39)	I104F	probably damaging	Het
Smcp	T	A	3: 92,491,827 (GRCm39)	T7S	unknown	Het
Sp4	A	G	12: 118,264,551 (GRCm39)		probably benign	Het
Tectb	G	T	19: 55,170,393 (GRCm39)	K81N	probably damaging	Het
Thbs4	G	T	13: 92,890,918 (GRCm39)	H850N	probably benign	Het
Tiam1	T	C	16: 89,694,642 (GRCm39)	M272V	probably benign	Het
Trav13-3	T	A	14: 53,967,233 (GRCm39)		noncoding transcript	Het
Ubap2l	A	T	3: 89,928,680 (GRCm39)	S478T	possibly damaging	Het
Vmn2r85	A	G	10: 130,255,054 (GRCm39)		probably benign	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
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
R2209:Flnb	UTSW	14	7,905,507 (GRCm38)	nonsense	probably null
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'- GTTTCCTGAAGCCAGTAAGAGGCATAC -3'
(R):5'- AACATCGGCAGTCTCACAGAGC -3'

Sequencing Primer
(F):5'- ggctccctgaaagatatgagac -3'
(R):5'- ACTTCCATGAGTCTAAGTGACC -3'

Posted On

2013-06-12