Mutagenetix > Incidental Mutation

Incidental Mutation 'R3778:Flnb'

271925

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

040750-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3778 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14518185-14651816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7915353 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1495 (V1495I)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably benign
Transcript: ENSMUST00000052678
AA Change: V1495I

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: V1495I

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: 97.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	T	15: 64,618,846 (GRCm39)	L769H	probably damaging	Het
Aldh1a7	A	T	19: 20,696,675 (GRCm39)	M106K	possibly damaging	Het
Ankfn1	G	T	11: 89,332,220 (GRCm39)	P442Q	probably damaging	Het
Aox1	A	C	1: 58,092,862 (GRCm39)	D158A	possibly damaging	Het
Apc	A	G	18: 34,446,134 (GRCm39)	N976S	probably damaging	Het
Cfap54	C	T	10: 92,740,206 (GRCm39)		probably benign	Het
Cldn1	C	T	16: 26,190,216 (GRCm39)	C54Y	probably damaging	Het
Col22a1	A	T	15: 71,845,541 (GRCm39)	I407N	probably damaging	Het
Cyp2e1	T	C	7: 140,343,822 (GRCm39)	V20A	possibly damaging	Het
Erp27	A	T	6: 136,896,901 (GRCm39)	N100K	possibly damaging	Het
Fbn1	C	T	2: 125,159,006 (GRCm39)	C2253Y	probably damaging	Het
Fhip1b	T	A	7: 105,037,435 (GRCm39)	T383S	probably damaging	Het
Fscn3	A	C	6: 28,430,031 (GRCm39)	K67T	possibly damaging	Het
Gls	A	G	1: 52,208,071 (GRCm39)	V571A	probably benign	Het
Gm14569	T	A	X: 35,696,085 (GRCm39)	M875L	probably benign	Het
Gm4871	A	G	5: 144,966,893 (GRCm39)	S197P	probably damaging	Het
Gm7104	A	T	12: 88,252,441 (GRCm39)		noncoding transcript	Het
Gp9	A	T	6: 87,755,987 (GRCm39)	M1L	probably benign	Het
Greb1l	T	A	18: 10,469,444 (GRCm39)	L153H	possibly damaging	Het
H1f8	T	C	6: 115,926,708 (GRCm39)		probably null	Het
Hadha	A	T	5: 30,325,127 (GRCm39)	C688S	probably damaging	Het
Hif1an	A	G	19: 44,557,847 (GRCm39)	D243G	probably damaging	Het
Hmcn1	A	T	1: 150,678,575 (GRCm39)	D515E	possibly damaging	Het
Hsfy2	A	T	1: 56,675,847 (GRCm39)	V230E	possibly damaging	Het
Ighv1-72	A	T	12: 115,721,636 (GRCm39)	S107T	probably damaging	Het
Inpp4b	T	A	8: 82,768,621 (GRCm39)	V710D	possibly damaging	Het
Itpr3	A	G	17: 27,314,446 (GRCm39)	D632G	possibly damaging	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Lrig2	A	G	3: 104,365,277 (GRCm39)	I625T	probably benign	Het
Lrp2	A	T	2: 69,339,548 (GRCm39)	M1121K	probably benign	Het
Man2b2	T	C	5: 36,972,871 (GRCm39)	N548D	probably benign	Het
Mei1	T	C	15: 81,966,209 (GRCm39)	L277P	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mycbp2	T	A	14: 103,434,721 (GRCm39)	I2241F	probably damaging	Het
Nalcn	G	A	14: 123,702,128 (GRCm39)	T461M	probably damaging	Het
Ncoa6	A	G	2: 155,263,115 (GRCm39)	S440P	probably damaging	Het
Ncoa7	A	G	10: 30,565,752 (GRCm39)	Y632H	probably damaging	Het
Notch2	T	C	3: 98,053,939 (GRCm39)	S2201P	probably damaging	Het
Or10c1	T	C	17: 37,522,649 (GRCm39)	T32A	probably benign	Het
Or5p52	C	A	7: 107,501,954 (GRCm39)	A10E	probably benign	Het
Pard6g	A	T	18: 80,123,038 (GRCm39)		probably null	Het
Pask	T	A	1: 93,255,189 (GRCm39)	I294F	probably damaging	Het
Pax9	A	G	12: 56,743,533 (GRCm39)	Y60C	probably damaging	Het
Pcdh15	G	A	10: 73,782,983 (GRCm39)		probably null	Het
Pik3c2g	A	T	6: 139,599,385 (GRCm39)	Y167F	probably damaging	Het
Ppfibp2	A	G	7: 107,328,396 (GRCm39)	T476A	probably benign	Het
Ppm1e	T	C	11: 87,139,754 (GRCm39)		probably null	Het
Rsph14	T	G	10: 74,793,420 (GRCm39)	Q360P	possibly damaging	Het
Rsph14	C	G	10: 74,793,419 (GRCm39)	Q360H	possibly damaging	Het
Sec24c	A	G	14: 20,733,375 (GRCm39)	Q234R	possibly damaging	Het
Shcbp1	A	T	8: 4,786,295 (GRCm39)	N602K	probably benign	Het
Sirt5	A	G	13: 43,536,583 (GRCm39)		probably null	Het
Slc66a1	T	C	4: 139,026,293 (GRCm39)		probably null	Het
Sp8	G	T	12: 118,812,750 (GRCm39)	V202L	possibly damaging	Het
Tle6	G	T	10: 81,431,987 (GRCm39)	P86T	probably benign	Het
Tmem235	A	T	11: 117,753,126 (GRCm39)	H83L	probably benign	Het
Trappc10	A	G	10: 78,036,636 (GRCm39)	V861A	possibly damaging	Het
Trpm2	A	C	10: 77,771,824 (GRCm39)	L605R	probably benign	Het
Vat1l	T	C	8: 114,963,540 (GRCm39)		probably null	Het
Wnt6	A	C	1: 74,821,941 (GRCm39)	D174A	possibly damaging	Het
Wwox	T	C	8: 115,601,347 (GRCm39)	C355R	probably benign	Het
Zfp229	A	T	17: 21,964,183 (GRCm39)	T138S	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
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
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
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'- CATGGGAATGGACGTGATTCTC -3'
(R):5'- GGTTGACCCTAGAACAGAAGCC -3'

Sequencing Primer
(F):5'- ACGTGATTCTCTTTTATGTGTAGC -3'
(R):5'- TGGATGCCACCACAATGCTC -3'

Posted On

2015-03-25