Mutagenetix > Incidental Mutations

Incidental Mutation 'R6738:Flnb'

530330

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6738 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7817957-7951588 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7904536 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 980 (T980A)

Ref Sequence

ENSEMBL: ENSMUSP00000052020 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000052678
AA Change: T980A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000052020
Gene: ENSMUSG00000025278
AA Change: T980A

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (55/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	G	A	1: 93,159,985	L49F	probably benign	Het
Abat	C	T	16: 8,602,436		probably benign	Het
Abl1	T	C	2: 31,794,574	Y454H	probably damaging	Het
Ambp	A	T	4: 63,149,474	D166E	probably benign	Het
Amigo2	A	G	15: 97,245,464	V359A	possibly damaging	Het
Ankrd11	A	T	8: 122,891,921	S1710T	probably damaging	Het
Ankrd31	T	C	13: 96,904,127	S1713P	possibly damaging	Het
Arhgap45	A	T	10: 80,027,597	K758M	probably damaging	Het
Bclaf1	T	C	10: 20,323,769	I304T	possibly damaging	Het
C1ra	A	G	6: 124,517,759	Y327C	probably damaging	Het
Ccdc73	C	T	2: 104,992,088	S794L	probably benign	Het
Cd24a	A	G	10: 43,582,676	N48D	possibly damaging	Het
Col11a1	A	G	3: 114,112,467		probably benign	Het
Cyp11b2	G	A	15: 74,853,514	T252I	possibly damaging	Het
Dlx2	A	G	2: 71,546,062	Y111H	probably benign	Het
Dsp	T	C	13: 38,192,210	S1324P	possibly damaging	Het
Esyt3	A	T	9: 99,320,293	F522I	probably damaging	Het
Fam193b	C	T	13: 55,550,361	A45T	probably benign	Het
Gabrb2	G	T	11: 42,593,931	A272S	possibly damaging	Het
H2al2a	G	T	2: 17,996,618	Q86K	possibly damaging	Het
Ikbkb	T	G	8: 22,675,036	I243L	probably damaging	Het
Il18r1	A	G	1: 40,498,656	E527G	probably benign	Het
Krt35	A	T	11: 100,093,709	V320D	probably damaging	Het
Krt76	C	T	15: 101,887,478	R419H	probably benign	Het
Lrp2	T	A	2: 69,458,488	Y3678F	probably damaging	Het
Mnat1	T	G	12: 73,272,472	S290A	probably benign	Het
Mptx2	T	C	1: 173,274,855	E89G	probably benign	Het
Myom1	T	A	17: 71,100,398		probably null	Het
Naaladl2	A	G	3: 24,171,642	V541A	probably benign	Het
Nbeal2	T	C	9: 110,636,905	T851A	possibly damaging	Het
Ncoa4	A	G	14: 32,170,793	Y11C	probably benign	Het
Ntn5	T	A	7: 45,694,356		probably null	Het
Olfr347	C	T	2: 36,734,432	T37I	probably benign	Het
Olfr961	A	G	9: 39,646,661		probably benign	Het
Otop2	A	G	11: 115,329,492	Y386C	probably damaging	Het
Ppp2r1a	T	A	17: 20,954,717		probably null	Het
Prkd2	C	A	7: 16,865,905	N764K	possibly damaging	Het
Ralgapa1	A	G	12: 55,762,727	L421S	probably damaging	Het
Ric3	G	A	7: 109,048,062	R184*	probably null	Het
Sfswap	A	G	5: 129,541,441	K480E	probably damaging	Het
Siah2	A	G	3: 58,691,553	V88A	probably benign	Het
Slc22a16	T	C	10: 40,585,302	F367L	probably damaging	Het
Slc23a2	T	C	2: 132,078,436	D183G	probably benign	Het
Svep1	T	C	4: 58,123,180	N712S	possibly damaging	Het
Tex21	A	G	12: 76,239,509	V72A	probably benign	Het
Tfap4	A	G	16: 4,549,447	Y184H	probably damaging	Het
Timeless	T	C	10: 128,240,635	Y138H	probably damaging	Het
Tln2	A	T	9: 67,386,664	N227K	possibly damaging	Het
Trip10	C	T	17: 57,256,899	P342S	probably benign	Het
Ttc6	A	T	12: 57,688,640	E1156V	probably damaging	Het
Ttn	T	C	2: 76,898,128		probably benign	Het
Vmn2r109	G	A	17: 20,554,523	S190L	possibly damaging	Het
Wdr54	A	G	6: 83,155,127	S99P	probably damaging	Het
Ythdf2	A	C	4: 132,204,961	I296R	probably benign	Het
Zfp445	A	G	9: 122,862,058	V24A	probably damaging	Het

Other mutations in Flnb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Flnb	APN	14	7917390	splice site	probably benign
IGL01063:Flnb	APN	14	7926518	splice site	probably benign
IGL01135:Flnb	APN	14	7909736	missense	probably benign
IGL01139:Flnb	APN	14	7945989	missense	probably damaging	1.00
IGL01364:Flnb	APN	14	7934562	critical splice acceptor site	probably null
IGL01417:Flnb	APN	14	7905513	missense	probably damaging	0.99
IGL01505:Flnb	APN	14	7902003	critical splice donor site	probably null
IGL01560:Flnb	APN	14	7893829	missense	probably benign	0.07
IGL01621:Flnb	APN	14	7950470	missense	probably damaging	1.00
IGL01656:Flnb	APN	14	7902010	splice site	probably benign
IGL01889:Flnb	APN	14	7935967	missense	possibly damaging	0.85
IGL01987:Flnb	APN	14	7922748	critical splice donor site	probably null
IGL02322:Flnb	APN	14	7894676	missense	probably damaging	1.00
IGL02496:Flnb	APN	14	7930919	splice site	probably benign
IGL02752:Flnb	APN	14	7917338	missense	probably benign
IGL03001:Flnb	APN	14	7934680	missense	probably damaging	0.99
IGL03076:Flnb	APN	14	7901988	missense	probably benign	0.01
IGL03085:Flnb	APN	14	7882211	missense	probably benign
IGL03170:Flnb	APN	14	7818261	missense	possibly damaging	0.90
IGL03373:Flnb	APN	14	7890867	critical splice donor site	probably null
R0068:Flnb	UTSW	14	7915290	missense	possibly damaging	0.49
R0068:Flnb	UTSW	14	7915290	missense	possibly damaging	0.49
R0084:Flnb	UTSW	14	7935979	missense	probably benign
R0128:Flnb	UTSW	14	7901951	missense	probably damaging	0.99
R0130:Flnb	UTSW	14	7901951	missense	probably damaging	0.99
R0148:Flnb	UTSW	14	7939077	missense	probably benign	0.01
R0166:Flnb	UTSW	14	7896115	missense	probably damaging	1.00
R0376:Flnb	UTSW	14	7946014	critical splice donor site	probably null
R0547:Flnb	UTSW	14	7912943	splice site	probably null
R0612:Flnb	UTSW	14	7887682	splice site	probably benign
R0656:Flnb	UTSW	14	7927352	missense	probably damaging	1.00
R0691:Flnb	UTSW	14	7890810	missense	probably benign	0.16
R1241:Flnb	UTSW	14	7896503	missense	probably benign	0.06
R1572:Flnb	UTSW	14	7883908	missense	probably damaging	0.97
R1682:Flnb	UTSW	14	7913121	missense	probably benign	0.04
R1807:Flnb	UTSW	14	7934645	missense	probably benign	0.26
R1848:Flnb	UTSW	14	7892113	missense	probably damaging	1.00
R1959:Flnb	UTSW	14	7884735	nonsense	probably null
R2078:Flnb	UTSW	14	7927466	missense	probably damaging	1.00
R2132:Flnb	UTSW	14	7873376	missense	probably benign	0.04
R2209:Flnb	UTSW	14	7905507	nonsense	probably null
R2212:Flnb	UTSW	14	7881652	small deletion	probably benign
R2213:Flnb	UTSW	14	7881652	small deletion	probably benign
R2363:Flnb	UTSW	14	7945950	missense	possibly damaging	0.95
R2415:Flnb	UTSW	14	7929932	missense	probably benign	0.07
R2983:Flnb	UTSW	14	7882250	missense	probably damaging	1.00
R3001:Flnb	UTSW	14	7907162	missense	probably benign	0.22
R3002:Flnb	UTSW	14	7907162	missense	probably benign	0.22
R3436:Flnb	UTSW	14	7942057	missense	probably damaging	0.97
R3437:Flnb	UTSW	14	7942057	missense	probably damaging	0.97
R3778:Flnb	UTSW	14	7915353	missense	probably benign	0.06
R3783:Flnb	UTSW	14	7889236	missense	probably benign	0.04
R4162:Flnb	UTSW	14	7915374	missense	possibly damaging	0.81
R4163:Flnb	UTSW	14	7915374	missense	possibly damaging	0.81
R4164:Flnb	UTSW	14	7915374	missense	possibly damaging	0.81
R4356:Flnb	UTSW	14	7922700	missense	probably benign
R4369:Flnb	UTSW	14	7942216	missense	probably benign
R4783:Flnb	UTSW	14	7905701	missense	probably benign	0.12
R4785:Flnb	UTSW	14	7905701	missense	probably benign	0.12
R4790:Flnb	UTSW	14	7905661	missense	probably benign	0.34
R4828:Flnb	UTSW	14	7919238	missense	probably benign	0.13
R4882:Flnb	UTSW	14	7929936	missense	possibly damaging	0.56
R5002:Flnb	UTSW	14	7945882	missense	probably damaging	1.00
R5058:Flnb	UTSW	14	7924262	nonsense	probably null
R5184:Flnb	UTSW	14	7901945	missense	probably damaging	1.00
R5186:Flnb	UTSW	14	7909748	missense	probably damaging	1.00
R5395:Flnb	UTSW	14	7883881	missense	probably benign	0.02
R5421:Flnb	UTSW	14	7926494	missense	probably damaging	1.00
R5667:Flnb	UTSW	14	7890843	missense	probably benign	0.00
R5671:Flnb	UTSW	14	7890843	missense	probably benign	0.00
R5714:Flnb	UTSW	14	7929073	missense	probably damaging	1.00
R5860:Flnb	UTSW	14	7931135	missense	probably damaging	1.00
R5892:Flnb	UTSW	14	7907183	missense	probably damaging	1.00
R5924:Flnb	UTSW	14	7890765	missense	probably benign	0.00
R6131:Flnb	UTSW	14	7894635	missense	possibly damaging	0.79
R6244:Flnb	UTSW	14	7892092	missense	probably damaging	1.00
R6489:Flnb	UTSW	14	7867551	missense	probably damaging	1.00
R6582:Flnb	UTSW	14	7892275	critical splice donor site	probably null
R6586:Flnb	UTSW	14	7929138	missense	possibly damaging	0.93
R6611:Flnb	UTSW	14	7915318	missense	probably damaging	1.00
R6626:Flnb	UTSW	14	7929012	missense	probably damaging	1.00
R6700:Flnb	UTSW	14	7892189	missense	probably damaging	0.99
R6864:Flnb	UTSW	14	7905640	missense	possibly damaging	0.84
R6916:Flnb	UTSW	14	7907171	missense	probably damaging	0.99
R7117:Flnb	UTSW	14	7894214	missense	probably benign	0.02
R7164:Flnb	UTSW	14	7915944	splice site	probably null
R7328:Flnb	UTSW	14	7883788	missense	possibly damaging	0.95
R7328:Flnb	UTSW	14	7894660	nonsense	probably null
R7687:Flnb	UTSW	14	7924224	missense	probably damaging	1.00
R7716:Flnb	UTSW	14	7917274	missense	possibly damaging	0.64
R7763:Flnb	UTSW	14	7926478	missense	probably benign	0.00
R7821:Flnb	UTSW	14	7939113	missense	probably benign	0.00
R8008:Flnb	UTSW	14	7892155	missense	probably damaging	1.00
R8075:Flnb	UTSW	14	7913048	missense	probably benign	0.00
R8084:Flnb	UTSW	14	7907243	missense	probably benign	0.00
X0066:Flnb	UTSW	14	7908636	missense	probably damaging	1.00
Z1088:Flnb	UTSW	14	7905871	missense	probably benign	0.04
Z1176:Flnb	UTSW	14	7942066	missense	probably benign	0.25

Predicted Primers

PCR Primer
(F):5'- ATGCCATTGTGTTAGTCCTGC -3'
(R):5'- AAACCGACCTTGGTGGGATC -3'

Sequencing Primer
(F):5'- GCTGTTACTTACTGAGGGAAACACC -3'
(R):5'- CTGGTGGTAGTGAGGCCTCC -3'

Posted On

2018-08-01