Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01063:Flnb'

52642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01063

Quality Score

Status

Chromosome

Chromosomal Location

14518185-14651816 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 7926518 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

Coding Region Coverage

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
4930444P10Rik	A	T	1: 16,148,870 (GRCm39)	L61*	probably null	Het
Abca7	T	C	10: 79,847,131 (GRCm39)	I1705T	probably damaging	Het
Ablim1	T	A	19: 57,049,760 (GRCm39)	I393F	probably damaging	Het
Adamts5	A	G	16: 85,696,722 (GRCm39)	L145P	probably damaging	Het
Ano6	T	C	15: 95,846,310 (GRCm39)	I537T	probably damaging	Het
AU018091	T	C	7: 3,212,153 (GRCm39)	I190V	possibly damaging	Het
Camk1	T	A	6: 113,315,333 (GRCm39)	D155V	probably damaging	Het
Cdh6	A	C	15: 13,064,581 (GRCm39)	I103S	probably damaging	Het
Cntnap1	A	G	11: 101,072,614 (GRCm39)	D537G	probably benign	Het
Col6a3	T	C	1: 90,730,054 (GRCm39)	K1144E	probably damaging	Het
Cpeb1	T	A	7: 81,021,929 (GRCm39)	E71D	probably benign	Het
Cps1	T	C	1: 67,234,325 (GRCm39)	L904P	possibly damaging	Het
Cyfip1	T	A	7: 55,553,958 (GRCm39)	F700I	probably damaging	Het
Dmp1	G	A	5: 104,354,965 (GRCm39)	M1I	probably null	Het
Efcab6	A	T	15: 83,938,713 (GRCm39)	M1K	probably null	Het
Extl2	A	T	3: 115,821,131 (GRCm39)	H312L	possibly damaging	Het
Fat4	C	A	3: 38,944,728 (GRCm39)	A1207D	possibly damaging	Het
Hdac10	G	T	15: 89,008,071 (GRCm39)	A593E	possibly damaging	Het
Hdhd2	T	C	18: 77,052,969 (GRCm39)		probably null	Het
Kcnq2	A	G	2: 180,751,582 (GRCm39)		probably benign	Het
Kdm7a	A	G	6: 39,142,064 (GRCm39)	F405L	probably damaging	Het
Lypd6b	C	A	2: 49,833,642 (GRCm39)		probably benign	Het
Mki67	A	T	7: 135,296,651 (GRCm39)	D2794E	possibly damaging	Het
Mtmr14	T	A	6: 113,243,287 (GRCm39)	F40I	probably damaging	Het
Or2y3	G	T	17: 38,393,544 (GRCm39)	S108R	possibly damaging	Het
Or5p55	A	T	7: 107,566,741 (GRCm39)	I46F	probably damaging	Het
Or6d13	T	A	6: 116,517,968 (GRCm39)	C185S	probably damaging	Het
Or6x1	A	T	9: 40,099,052 (GRCm39)	I214F	probably benign	Het
Ppargc1a	C	A	5: 51,631,664 (GRCm39)	V322L	probably benign	Het
Ppfibp1	T	A	6: 146,931,195 (GRCm39)	M917K	probably benign	Het
Prkg2	C	T	5: 99,117,795 (GRCm39)		probably null	Het
Rfx4	A	G	10: 84,704,246 (GRCm39)	E296G	possibly damaging	Het
Rfx8	T	A	1: 39,722,110 (GRCm39)	K292*	probably null	Het
Scamp3	C	A	3: 89,084,973 (GRCm39)		probably benign	Het
Scn4a	A	T	11: 106,221,190 (GRCm39)	I823N	possibly damaging	Het
Sdk2	A	G	11: 113,721,668 (GRCm39)	V1316A	probably damaging	Het
Setd2	T	C	9: 110,402,741 (GRCm39)	V1794A	probably damaging	Het
Stard8	G	T	X: 98,116,694 (GRCm39)	R983L	probably damaging	Het
Tbc1d23	A	T	16: 57,013,038 (GRCm39)	D311E	probably benign	Het
Tex21	T	C	12: 76,245,592 (GRCm39)	H568R	probably benign	Het
Tex35	T	C	1: 156,932,667 (GRCm39)		probably benign	Het
Tgs1	T	A	4: 3,591,292 (GRCm39)	F442I	possibly damaging	Het
Traf2	C	A	2: 25,414,931 (GRCm39)	C303F	probably benign	Het
Trim56	A	T	5: 137,143,354 (GRCm39)	V54D	possibly damaging	Het
Yars2	C	T	16: 16,124,406 (GRCm39)	R338*	probably null	Het
Zfp668	A	T	7: 127,465,454 (GRCm39)	C577S	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
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
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

Posted On

2013-06-21