Mutagenetix > Incidental Mutation

Incidental Mutation 'R9148:Flnb'

694836

Institutional Source

Beutler Lab

Gene Symbol

Flnb

Ensembl Gene

ENSMUSG00000025278

Gene Name

filamin, beta

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9148 (G1)

Quality Score

123.008

Status

Validated

Chromosome

Chromosomal Location

7817957-7951588 bp(+) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 7817996 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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (94/98)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	T	A	3: 68,870,012	I102N	probably damaging	Het
2210407C18Rik	T	A	11: 58,608,512	D160V	probably benign	Het
2610008E11Rik	A	T	10: 79,067,572	C303*	probably null	Het
A430033K04Rik	T	A	5: 138,646,285	V144D	possibly damaging	Het
Adamts13	T	A	2: 26,993,012	M858K	probably benign	Het
Ankrd29	T	C	18: 12,275,703		probably benign	Het
Arg1	A	C	10: 24,920,757	D57E	probably benign	Het
Bend4	G	A	5: 67,400,072	T467M	probably damaging	Het
C1s1	T	C	6: 124,540,799	D74G	probably damaging	Het
Cacnb2	G	A	2: 14,967,962	G227S	possibly damaging	Het
Cbs	T	C	17: 31,625,915	D137G	probably damaging	Het
Ccdc136	A	G	6: 29,418,071	E846G	probably damaging	Het
Cd6	A	T	19: 10,799,491	S57T	probably benign	Het
Col11a2	T	A	17: 34,054,145		probably benign	Het
Col7a1	T	C	9: 108,960,206	S829P	unknown	Het
Ctsj	T	C	13: 61,001,435	Y264C	probably damaging	Het
Dennd3	T	A	15: 73,557,614	N915K	probably damaging	Het
E2f2	A	T	4: 136,181,284		probably null	Het
Eme1	T	C	11: 94,648,029	T342A	possibly damaging	Het
Epc1	A	T	18: 6,453,266		probably benign	Het
Fam19a5	T	C	15: 87,544,574	I28T	probably benign	Het
Fat1	T	C	8: 44,952,645	V811A	possibly damaging	Het
Fbxo2	A	G	4: 148,165,709	E232G	probably damaging	Het
Fmn1	A	C	2: 113,441,628	N114H	unknown	Het
Fopnl	G	A	16: 14,317,358		probably benign	Het
Foxp2	A	T	6: 15,286,712	Q67L	possibly damaging	Het
Galntl5	A	T	5: 25,210,355	I295L	possibly damaging	Het
Gjd4	T	A	18: 9,280,095	T328S	probably benign	Het
Hint2	A	G	4: 43,654,952	I59T	probably damaging	Het
Hpn	C	T	7: 31,102,618	R252Q	probably benign	Het
Hspa12a	T	G	19: 58,805,458	T324P	probably damaging	Het
Ighv4-1	A	T	12: 113,948,380	D84E	possibly damaging	Het
Il1r2	T	A	1: 40,112,098	I171N	probably damaging	Het
Il31ra	C	T	13: 112,533,742	E371K	probably benign	Het
Klhl24	C	T	16: 20,117,940	R433C	probably damaging	Het
Klra5	C	T	6: 129,909,948	C39Y	probably benign	Het
Macc1	T	C	12: 119,450,356	S756P	possibly damaging	Het
Mael	A	G	1: 166,201,690	V388A	probably benign	Het
Mast3	A	G	8: 70,780,447	S1074P	probably damaging	Het
Med13	A	G	11: 86,301,471	C823R	probably benign	Het
Megf6	A	G	4: 154,254,673	T556A	probably benign	Het
Mlip	A	G	9: 77,138,412	F14L	possibly damaging	Het
Moxd2	C	A	6: 40,884,044	C271F	probably damaging	Het
Myo1e	A	T	9: 70,376,548	D842V	probably damaging	Het
Ndst4	C	T	3: 125,438,073	A97V	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nptx2	A	G	5: 144,556,170	T356A	probably benign	Het
Nup160	A	G	2: 90,703,145	D646G	probably damaging	Het
Nup98	C	A	7: 102,138,830	R1011L	probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Olfr1058	A	G	2: 86,385,980	V146A	probably benign	Het
Olfr348	A	G	2: 36,786,926	T134A	probably benign	Het
Olfr368	T	C	2: 37,332,005	L86P	possibly damaging	Het
Olfr59	A	C	11: 74,289,343	Q232H	probably damaging	Het
Olfr871	T	A	9: 20,213,062	F238I	probably damaging	Het
Osbp2	A	G	11: 3,715,143	L67P	probably damaging	Het
Pabpc6	C	T	17: 9,668,008	S538N	probably benign	Het
Pcdhga1	C	A	18: 37,663,380	A479D	possibly damaging	Het
Pdgfd	A	T	9: 6,333,328	D172V	probably benign	Het
Pdzd3	A	G	9: 44,249,379	C240R	probably damaging	Het
Pfpl	A	T	19: 12,428,440	E18D	possibly damaging	Het
Plat	A	G	8: 22,778,450	T373A	probably damaging	Het
Plekhg1	G	A	10: 3,957,527	D870N		Het
Ppp1r13b	T	C	12: 111,833,834	H626R	probably benign	Het
Ppp6r3	A	T	19: 3,493,974	V347D	probably damaging	Het
Prr12	G	T	7: 45,047,818	P891H	unknown	Het
Psg22	T	A	7: 18,726,757	I437K	probably benign	Het
Ptpa	T	A	2: 30,438,243	M192K	probably damaging	Het
Ptpa	G	T	2: 30,438,244	M192I	probably benign	Het
Ptprj	G	A	2: 90,458,218	S801L	probably benign	Het
Relb	T	C	7: 19,616,351	Y228C	probably damaging	Het
Rfx3	A	T	19: 27,900,807	V30E	possibly damaging	Het
Rgs2	A	G	1: 144,002,187	S124P	probably damaging	Het
Rph3a	T	C	5: 120,948,817	N440S	possibly damaging	Het
Ryr2	T	C	13: 11,885,538	T104A	probably benign	Het
Scn7a	T	C	2: 66,684,163	D1089G	possibly damaging	Het
Sebox	A	G	11: 78,504,396	D188G	possibly damaging	Het
Serpinf2	A	T	11: 75,432,592	F429L	probably damaging	Het
Six4	A	C	12: 73,108,907	S429A	probably benign	Het
Slc2a10	A	T	2: 165,515,623	H401L	possibly damaging	Het
Spag16	G	C	1: 70,381,300	L482F	probably damaging	Het
Ssbp2	T	C	13: 91,694,022	S321P	probably damaging	Het
Syne2	A	G	12: 75,890,384	E252G	probably damaging	Het
Synj2	T	C	17: 6,033,897	I1178T	probably damaging	Het
Tmem132b	C	A	5: 125,787,103	Q758K	probably damaging	Het
Tril	A	G	6: 53,818,152	L695P	probably damaging	Het
Ubap1l	T	C	9: 65,369,321	L35P	probably damaging	Het
Vmn1r225	T	A	17: 20,502,315	M6K	possibly damaging	Het
Vmn1r229	T	C	17: 20,814,496	M1T	probably null	Het
Vmn2r80	A	T	10: 79,194,853	I838F	probably damaging	Het
Vmn2r98	T	A	17: 19,066,121	W294R	probably benign	Het
Wnk1	A	G	6: 119,948,670	S1527P	unknown	Het
Wnt11	G	A	7: 98,839,034		probably benign	Het
Zdhhc17	A	T	10: 110,949,642	S436R	possibly damaging	Het
Zfp12	T	C	5: 143,244,634	S271P	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
Boomerang	UTSW	14	7901945	missense	probably damaging	1.00
Queensland	UTSW	14	7927352	missense	probably damaging	1.00
R3437_Flnb_252	UTSW	14	7942057	missense	probably damaging	0.97
R8441_Flnb_221	UTSW	14	7896488	missense	probably benign	0.15
Rhodelinda	UTSW	14	7887682	splice site	probably benign
saul	UTSW	14	7889183	missense	probably damaging	0.99
Xerxes	UTSW	14	7867551	missense	probably damaging	1.00
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
R6738:Flnb	UTSW	14	7904536	missense	probably benign	0.01
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
R7921:Flnb	UTSW	14	7933800	missense	possibly damaging	0.57
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
R8259:Flnb	UTSW	14	7889183	missense	probably damaging	0.99
R8441:Flnb	UTSW	14	7896488	missense	probably benign	0.15
R8493:Flnb	UTSW	14	7869822	missense	probably damaging	0.97
R8508:Flnb	UTSW	14	7950394	missense	probably damaging	0.98
R8531:Flnb	UTSW	14	7929939	missense	probably damaging	1.00
R8812:Flnb	UTSW	14	7887624	missense	probably benign	0.06
R8814:Flnb	UTSW	14	7927409	missense	probably damaging	1.00
R8825:Flnb	UTSW	14	7887566	missense	probably damaging	1.00
R8868:Flnb	UTSW	14	7908671	missense	probably benign	0.02
R8955:Flnb	UTSW	14	7892874	missense	probably damaging	1.00
R8955:Flnb	UTSW	14	7904688	nonsense	probably null
R8976:Flnb	UTSW	14	7901882	critical splice acceptor site	probably null
R9055:Flnb	UTSW	14	7908553	missense	probably benign	0.00
R9179:Flnb	UTSW	14	7887541	nonsense	probably null
R9180:Flnb	UTSW	14	7818219	missense	probably damaging	1.00
R9189:Flnb	UTSW	14	7892976	missense	possibly damaging	0.90
R9286:Flnb	UTSW	14	7873414	missense	probably damaging	0.98
R9288:Flnb	UTSW	14	7904498	missense	probably benign	0.43
R9354:Flnb	UTSW	14	7818411	missense	probably benign	0.13
R9484:Flnb	UTSW	14	7929004	missense	probably benign	0.06
R9505:Flnb	UTSW	14	7904665	missense	probably benign
R9525:Flnb	UTSW	14	7905481	missense	probably damaging	1.00
R9621:Flnb	UTSW	14	7926421	missense	probably damaging	0.99
R9630:Flnb	UTSW	14	7926438	nonsense	probably null
R9739:Flnb	UTSW	14	7935954	nonsense	probably null
R9760:Flnb	UTSW	14	7929846	missense	probably damaging	0.98
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'- TTGCTGGGCAGTACATCAGG -3'
(R):5'- TGAATCTTCTTCCACGGCG -3'

Sequencing Primer
(F):5'- CAGTACATCAGGTTGGGGATACTTAG -3'
(R):5'- GCCAGGTCTTTCTCCGTCAC -3'

Posted On

2022-01-20