Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03218:Flna'

413563

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flna

Ensembl Gene

ENSMUSG00000031328

Gene Name

filamin, alpha

Synonyms

filamin-1, GENA 379, ABP-280, Dilp2, Fln1, actin-binding protein 280, F730004A14Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.734) question?

Stock #

IGL03218

Quality Score

Status

Chromosome

Chromosomal Location

73267067-73293426 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 73278208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000121082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033699] [ENSMUST00000101454] [ENSMUST00000114299] [ENSMUST00000130007]

AlphaFold

Q8BTM8

Predicted Effect

probably null
Transcript: ENSMUST00000033699

SMART Domains

Protein: ENSMUSP00000033699
Gene: ENSMUSG00000031328

Domain	Start	End	E-Value	Type
CH	45	147	1.71e-27	SMART
CH	168	264	8.03e-24	SMART
IG_FLMN	280	377	1.08e-32	SMART
IG_FLMN	380	477	1.46e-38	SMART
IG_FLMN	479	573	3.42e-35	SMART
IG_FLMN	575	666	3.94e-26	SMART
IG_FLMN	671	766	1.9e-42	SMART
IG_FLMN	768	869	6.76e-25	SMART
IG_FLMN	871	968	2.96e-30	SMART
IG_FLMN	970	1064	1.66e-24	SMART
IG_FLMN	1066	1157	3.61e-43	SMART
IG_FLMN	1159	1252	3.29e-37	SMART
IG_FLMN	1254	1352	9.92e-32	SMART
IG_FLMN	1354	1445	1.56e-38	SMART
IG_FLMN	1447	1542	3.05e-41	SMART
IG_FLMN	1544	1639	7.8e-39	SMART
IG_FLMN	1641	1743	2.94e-34	SMART
IG_FLMN	1772	1863	9.8e-13	SMART
IG_FLMN	1864	1955	3.69e-40	SMART
IG_FLMN	1956	2042	2.13e-13	SMART
IG_FLMN	2046	2137	9.52e-43	SMART
IG_FLMN	2150	2233	1.61e-8	SMART
IG_FLMN	2237	2328	1.56e-38	SMART
IG_FLMN	2331	2423	3.17e-30	SMART
IG_FLMN	2428	2519	2.11e-35	SMART
IG_FLMN	2556	2647	1.84e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000101454

SMART Domains

Protein: ENSMUSP00000098997
Gene: ENSMUSG00000031328

Domain	Start	End	E-Value	Type
CH	45	147	1.71e-27	SMART
CH	168	264	8.03e-24	SMART
IG_FLMN	280	377	1.08e-32	SMART
IG_FLMN	380	477	1.46e-38	SMART
IG_FLMN	479	573	3.42e-35	SMART
IG_FLMN	575	666	3.94e-26	SMART
IG_FLMN	671	766	1.9e-42	SMART
IG_FLMN	768	869	6.76e-25	SMART
IG_FLMN	871	968	2.96e-30	SMART
IG_FLMN	970	1064	1.66e-24	SMART
IG_FLMN	1066	1157	3.61e-43	SMART
IG_FLMN	1159	1252	3.29e-37	SMART
IG_FLMN	1254	1352	9.92e-32	SMART
IG_FLMN	1354	1445	1.56e-38	SMART
IG_FLMN	1447	1542	3.05e-41	SMART
IG_FLMN	1544	1639	7.8e-39	SMART
IG_FLMN	1641	1735	1.86e-36	SMART
IG_FLMN	1764	1855	9.8e-13	SMART
IG_FLMN	1856	1947	3.69e-40	SMART
IG_FLMN	1948	2034	2.13e-13	SMART
IG_FLMN	2038	2129	9.52e-43	SMART
IG_FLMN	2142	2225	1.61e-8	SMART
IG_FLMN	2229	2320	1.56e-38	SMART
IG_FLMN	2323	2415	3.17e-30	SMART
IG_FLMN	2420	2511	2.11e-35	SMART
IG_FLMN	2548	2639	1.84e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114299

SMART Domains

Protein: ENSMUSP00000109938
Gene: ENSMUSG00000031328

Domain	Start	End	E-Value	Type
CH	45	147	1.71e-27	SMART
CH	168	264	8.03e-24	SMART
IG_FLMN	280	377	1.08e-32	SMART
IG_FLMN	380	477	1.46e-38	SMART
IG_FLMN	479	573	3.42e-35	SMART
IG_FLMN	575	666	3.94e-26	SMART
IG_FLMN	671	766	1.9e-42	SMART
IG_FLMN	768	869	6.76e-25	SMART
IG_FLMN	871	968	2.96e-30	SMART
IG_FLMN	970	1064	1.66e-24	SMART
IG_FLMN	1066	1157	3.61e-43	SMART
IG_FLMN	1159	1252	3.29e-37	SMART
IG_FLMN	1254	1352	9.92e-32	SMART
IG_FLMN	1354	1445	1.56e-38	SMART
IG_FLMN	1447	1542	3.05e-41	SMART
IG_FLMN	1544	1639	7.8e-39	SMART
IG_FLMN	1641	1735	1.86e-36	SMART
IG_FLMN	1764	1855	9.8e-13	SMART
IG_FLMN	1856	1947	3.69e-40	SMART
IG_FLMN	1948	2034	2.13e-13	SMART
IG_FLMN	2038	2129	9.52e-43	SMART
IG_FLMN	2142	2225	1.61e-8	SMART
IG_FLMN	2229	2320	1.56e-38	SMART
IG_FLMN	2323	2415	3.17e-30	SMART
IG_FLMN	2420	2511	2.11e-35	SMART
IG_FLMN	2548	2639	1.84e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127463

SMART Domains

Protein: ENSMUSP00000114827
Gene: ENSMUSG00000031328

Domain	Start	End	E-Value	Type
SCOP:d1qfha1	2	23	5e-5	SMART
IG_FLMN	55	146	9.8e-13	SMART
IG_FLMN	147	267	1.29e-21	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000130007

SMART Domains

Protein: ENSMUSP00000121082
Gene: ENSMUSG00000031328

Domain	Start	End	E-Value	Type
CH	21	123	1.71e-27	SMART
CH	144	240	8.03e-24	SMART
IG_FLMN	256	353	1.08e-32	SMART
IG_FLMN	356	453	1.46e-38	SMART
IG_FLMN	455	549	3.42e-35	SMART
IG_FLMN	551	642	3.94e-26	SMART
IG_FLMN	647	742	1.9e-42	SMART
IG_FLMN	744	845	6.76e-25	SMART
IG_FLMN	847	944	2.96e-30	SMART
IG_FLMN	946	1040	1.66e-24	SMART
IG_FLMN	1042	1133	3.61e-43	SMART
IG_FLMN	1135	1228	3.29e-37	SMART
IG_FLMN	1230	1328	9.92e-32	SMART
IG_FLMN	1330	1421	1.56e-38	SMART
IG_FLMN	1423	1518	3.05e-41	SMART
IG_FLMN	1520	1615	7.8e-39	SMART
IG_FLMN	1617	1711	3.67e-35	SMART
IG_FLMN	1715	1799	1.19e-11	SMART
IG_FLMN	1800	1891	3.69e-40	SMART
IG_FLMN	1892	1978	2.13e-13	SMART
IG_FLMN	1982	2073	9.52e-43	SMART
IG_FLMN	2086	2169	1.61e-8	SMART
IG_FLMN	2173	2264	1.56e-38	SMART
IG_FLMN	2267	2359	3.17e-30	SMART
IG_FLMN	2364	2455	2.11e-35	SMART
IG_FLMN	2492	2583	1.84e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133288

Predicted Effect

probably benign
Transcript: ENSMUST00000144429

SMART Domains

Protein: ENSMUSP00000123278
Gene: ENSMUSG00000031328

Domain	Start	End	E-Value	Type
CH	33	135	1.71e-27	SMART
CH	156	252	8.03e-24	SMART
IG_FLMN	268	365	1.08e-32	SMART
IG_FLMN	368	465	1.46e-38	SMART
internal_repeat_1	467	510	3.09e-8	PROSPERO

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
PHENOTYPE: Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,561,727 (GRCm39)		probably null	Het
Acot9	T	A	X: 154,078,207 (GRCm39)	V251E	possibly damaging	Het
Agtpbp1	A	G	13: 59,648,021 (GRCm39)	S600P	possibly damaging	Het
Amfr	A	T	8: 94,726,964 (GRCm39)	M157K	probably damaging	Het
Arvcf	T	C	16: 18,222,875 (GRCm39)		probably benign	Het
Ascc3	T	C	10: 50,699,949 (GRCm39)	V1924A	possibly damaging	Het
Atp10a	T	A	7: 58,438,196 (GRCm39)		probably null	Het
Atp1a2	T	A	1: 172,116,870 (GRCm39)	E249V	probably null	Het
C1qc	A	G	4: 136,617,598 (GRCm39)	L166P	probably damaging	Het
Col4a3	C	A	1: 82,620,927 (GRCm39)		probably benign	Het
Def8	A	G	8: 124,183,175 (GRCm39)	D258G	probably damaging	Het
Dll1	T	C	17: 15,593,830 (GRCm39)	D179G	probably benign	Het
Dnah14	C	A	1: 181,582,834 (GRCm39)	H3124Q	probably benign	Het
Fabp5	T	A	3: 10,080,023 (GRCm39)		probably benign	Het
Fam133b	C	T	5: 3,604,684 (GRCm39)	Q24*	probably null	Het
Fam13c	A	C	10: 70,284,599 (GRCm39)	D25A	possibly damaging	Het
Frem1	T	A	4: 82,832,883 (GRCm39)	T1917S	probably benign	Het
Frmd4b	T	C	6: 97,285,075 (GRCm39)	T337A	probably benign	Het
Fxyd7	C	T	7: 30,743,995 (GRCm39)		probably null	Het
Galnt5	T	G	2: 57,889,401 (GRCm39)	S334A	possibly damaging	Het
Gm10220	T	C	5: 26,323,696 (GRCm39)	K117R	probably damaging	Het
Gpd2	T	A	2: 57,197,066 (GRCm39)	L207H	probably damaging	Het
H2-M10.3	T	A	17: 36,678,279 (GRCm39)	Y182F	probably damaging	Het
Itga8	T	C	2: 12,115,836 (GRCm39)	I1018V	possibly damaging	Het
Letmd1	T	C	15: 100,367,709 (GRCm39)	F89S	probably damaging	Het
Mcm3ap	A	G	10: 76,318,567 (GRCm39)	Y696C	probably damaging	Het
Mcpt9	A	G	14: 56,264,908 (GRCm39)	Y198H	probably damaging	Het
Mmp1b	A	G	9: 7,387,907 (GRCm39)	V29A	probably benign	Het
Myom1	A	G	17: 71,391,311 (GRCm39)	D940G	possibly damaging	Het
Myzap	A	G	9: 71,462,871 (GRCm39)	M225T	probably benign	Het
Naa25	A	G	5: 121,564,133 (GRCm39)	Y516C	probably damaging	Het
Nsdhl	T	A	X: 72,000,052 (GRCm39)		probably benign	Het
Olfml1	A	G	7: 107,170,476 (GRCm39)	E121G	possibly damaging	Het
Or11j4	A	T	14: 50,631,115 (GRCm39)	M301L	probably damaging	Het
Or4a72	A	G	2: 89,405,935 (GRCm39)	V45A	probably benign	Het
Or8k38	A	G	2: 86,488,703 (GRCm39)	I33T	probably benign	Het
Phex	C	T	X: 155,961,783 (GRCm39)	G636E	probably damaging	Het
Pkd2l2	A	T	18: 34,563,373 (GRCm39)	I475F	probably damaging	Het
Polr2b	T	A	5: 77,463,764 (GRCm39)	S54T	probably benign	Het
Prkx	A	T	X: 76,829,806 (GRCm39)	L85Q	probably damaging	Het
Smc1b	A	T	15: 84,973,914 (GRCm39)	I914N	probably benign	Het
Susd2	A	G	10: 75,478,459 (GRCm39)	L39P	probably benign	Het
Teddm2	C	T	1: 153,726,770 (GRCm39)	V35I	probably benign	Het
Tspo	T	A	15: 83,455,631 (GRCm39)	V6E	possibly damaging	Het
Vps41	G	T	13: 19,013,440 (GRCm39)	V353F	possibly damaging	Het
Wfdc18	T	A	11: 83,600,033 (GRCm39)		probably null	Het
Wsb1	C	T	11: 79,139,324 (GRCm39)	S124N	probably damaging	Het
Zfp445	T	C	9: 122,686,594 (GRCm39)	E177G	probably benign	Het
Zfp759	G	T	13: 67,287,480 (GRCm39)	V344L	probably benign	Het

Other mutations in Flna

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00901:Flna	APN	X	73,273,534 (GRCm39)	missense	probably damaging	1.00
IGL02048:Flna	APN	X	73,272,106 (GRCm39)	missense	probably benign	0.05
IGL02413:Flna	APN	X	73,284,888 (GRCm39)	missense	probably benign	0.01
IGL02620:Flna	APN	X	73,273,582 (GRCm39)	unclassified	probably benign
IGL02930:Flna	APN	X	73,267,506 (GRCm39)	missense	probably damaging	1.00
IGL02965:Flna	APN	X	73,270,816 (GRCm39)	missense	probably damaging	1.00
R1864:Flna	UTSW	X	73,283,869 (GRCm39)	missense	probably benign	0.00
R3969:Flna	UTSW	X	73,279,273 (GRCm39)	missense	probably damaging	1.00
R3970:Flna	UTSW	X	73,279,273 (GRCm39)	missense	probably damaging	1.00
R4084:Flna	UTSW	X	73,280,531 (GRCm39)	missense	possibly damaging	0.61

Posted On

2016-08-02