Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03001:Flnb'

407357

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 #

IGL03001

Quality Score

Status

Chromosome

Chromosomal Location

14518185-14651816 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7934680 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2251 (S2251P)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

AlphaFold

Q80X90

Predicted Effect

probably damaging
Transcript: ENSMUST00000052678
AA Change: S2251P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: S2251P

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	C	7: 78,761,042 (GRCm39)	D1918A	probably damaging	Het
Ahcy	C	A	2: 154,906,748 (GRCm39)	D182Y	probably damaging	Het
Aldob	T	G	4: 49,542,844 (GRCm39)	D110A	probably damaging	Het
Alkbh8	A	T	9: 3,344,602 (GRCm39)	M53L	probably benign	Het
Aqr	T	C	2: 113,977,400 (GRCm39)	D363G	probably benign	Het
Asxl3	A	G	18: 22,650,455 (GRCm39)	R815G	probably damaging	Het
Atf4	T	A	15: 80,140,858 (GRCm39)	W83R	probably damaging	Het
Baz1a	A	T	12: 54,969,896 (GRCm39)	M587K	possibly damaging	Het
Btbd8	T	C	5: 107,645,708 (GRCm39)	I9T	probably damaging	Het
Cactin	T	A	10: 81,161,568 (GRCm39)	I700N	probably damaging	Het
Catsperg2	T	C	7: 29,424,504 (GRCm39)	S95G	probably benign	Het
Cd1d1	C	T	3: 86,905,468 (GRCm39)	S175N	probably benign	Het
Chd4	C	A	6: 125,078,529 (GRCm39)	A217E	possibly damaging	Het
Cnbd2	T	C	2: 156,175,554 (GRCm39)		probably null	Het
Cntnap5c	G	A	17: 58,362,634 (GRCm39)	C329Y	probably damaging	Het
Col12a1	C	T	9: 79,540,955 (GRCm39)	G2391R	probably damaging	Het
Col5a3	T	A	9: 20,719,040 (GRCm39)	D238V	unknown	Het
Cuedc1	T	C	11: 88,073,315 (GRCm39)	V160A	probably benign	Het
Depdc5	T	C	5: 33,102,434 (GRCm39)	V342A	possibly damaging	Het
Dnah6	T	C	6: 73,126,123 (GRCm39)	D1338G	probably benign	Het
Dpyd	T	C	3: 118,710,891 (GRCm39)	V433A	probably benign	Het
Epb41l5	T	C	1: 119,545,374 (GRCm39)	H179R	probably damaging	Het
Fbf1	T	C	11: 116,056,712 (GRCm39)		probably benign	Het
Fsip2	A	T	2: 82,820,968 (GRCm39)		probably benign	Het
Grin2b	C	T	6: 135,716,113 (GRCm39)	V735M	probably damaging	Het
Itpr3	T	G	17: 27,308,586 (GRCm39)		probably benign	Het
Lingo4	C	T	3: 94,309,703 (GRCm39)	R214C	probably damaging	Het
Lrp1b	C	T	2: 40,817,901 (GRCm39)	R2329H	probably damaging	Het
Lrrc47	T	C	4: 154,100,450 (GRCm39)	L342P	probably damaging	Het
Mmp15	T	C	8: 96,094,845 (GRCm39)	S240P	probably damaging	Het
Ndufaf4	T	A	4: 24,901,747 (GRCm39)	N95K	probably benign	Het
Nms	C	T	1: 38,980,993 (GRCm39)	P60S	probably benign	Het
Npas3	A	T	12: 53,547,975 (GRCm39)	Y77F	probably damaging	Het
Or2ak7	T	G	11: 58,574,702 (GRCm39)	M1R	probably null	Het
Or51f5	G	T	7: 102,424,460 (GRCm39)	C243F	probably damaging	Het
Or5d43	T	A	2: 88,105,189 (GRCm39)	D68V	probably damaging	Het
Or8d2b	A	G	9: 38,789,374 (GRCm39)	M301V	probably benign	Het
Or9m2	T	A	2: 87,820,493 (GRCm39)	Y13N	probably benign	Het
Or9s27	T	A	1: 92,516,273 (GRCm39)	S74T	probably damaging	Het
Picalm	T	C	7: 89,831,454 (GRCm39)	V429A	probably benign	Het
Pkhd1l1	T	A	15: 44,421,400 (GRCm39)	I3056N	probably damaging	Het
Pomt1	G	T	2: 32,134,338 (GRCm39)	M286I	probably benign	Het
Popdc2	A	T	16: 38,189,881 (GRCm39)	Y176F	probably benign	Het
Psg21	A	T	7: 18,386,410 (GRCm39)	M192K	probably benign	Het
Psma1	C	A	7: 113,865,674 (GRCm39)	A219S	probably benign	Het
Rad21l	T	G	2: 151,510,389 (GRCm39)	H22P	probably damaging	Het
Rnf213	A	G	11: 119,370,767 (GRCm39)	T4791A	probably damaging	Het
Sdk2	A	G	11: 113,712,452 (GRCm39)	V1609A	probably benign	Het
Sema3e	T	A	5: 14,291,057 (GRCm39)	S606T	probably benign	Het
Slc16a4	A	T	3: 107,218,858 (GRCm39)	R486S	possibly damaging	Het
Slc17a3	T	C	13: 24,040,767 (GRCm39)	L331P	probably damaging	Het
Slc38a11	A	T	2: 65,184,159 (GRCm39)	V164D	probably damaging	Het
Slc38a6	A	G	12: 73,383,827 (GRCm39)	I173V	probably benign	Het
Synpo2	T	C	3: 122,873,604 (GRCm39)	T1121A	probably benign	Het
Tfcp2	T	C	15: 100,426,302 (GRCm39)	D83G	possibly damaging	Het
Thnsl1	A	G	2: 21,216,455 (GRCm39)	T70A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,786 (GRCm39)	I631V	probably damaging	Het
Tor2a	C	A	2: 32,647,329 (GRCm39)	H6Q	possibly damaging	Het
Ttn	T	C	2: 76,565,267 (GRCm39)	N19993S	probably benign	Het
Vps53	T	C	11: 76,029,150 (GRCm39)	E119G	probably damaging	Het
Zkscan6	T	C	11: 65,705,495 (GRCm39)	W69R	probably damaging	Het
Zng1	T	C	19: 24,900,002 (GRCm39)	K301E	probably benign	Het
Zswim8	T	C	14: 20,764,459 (GRCm39)	S610P	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
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

2016-08-02