Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03190:Flnc'

412634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flnc

Ensembl Gene

ENSMUSG00000068699

Gene Name

filamin C, gamma

Synonyms

1110055E19Rik, Fln2, actin binding protein 280

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03190

Quality Score

Status

Chromosome

Chromosomal Location

29433255-29461882 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 29445636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099139 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065090] [ENSMUST00000101617]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000065090

SMART Domains

Protein: ENSMUSP00000064163
Gene: ENSMUSG00000068699

Domain	Start	End	E-Value	Type
CH	39	141	1.17e-25	SMART
CH	162	258	2.09e-22	SMART
IG_FLMN	275	372	3.84e-38	SMART
IG_FLMN	375	472	3.73e-36	SMART
IG_FLMN	474	569	4.41e-38	SMART
IG_FLMN	571	662	3.61e-34	SMART
IG_FLMN	667	762	2.48e-41	SMART
IG_FLMN	764	865	6.7e-29	SMART
IG_FLMN	867	964	3.42e-35	SMART
IG_FLMN	966	1060	2.92e-29	SMART
IG_FLMN	1062	1153	3.69e-40	SMART
IG_FLMN	1155	1248	6.53e-41	SMART
IG_FLMN	1250	1348	7.23e-34	SMART
IG_FLMN	1350	1441	2.04e-42	SMART
IG_FLMN	1443	1537	1.75e-41	SMART
IG_FLMN	1539	1634	1.31e-40	SMART
IG_FLMN	1636	1738	1.05e-30	SMART
IG_FLMN	1777	1858	2.93e-11	SMART
IG_FLMN	1859	1950	2.55e-43	SMART
IG_FLMN	1951	2037	2.43e-17	SMART
IG_FLMN	2041	2132	1.52e-41	SMART
PDB:2E9I\|A	2133	2162	3e-7	PDB
IG_FLMN	2217	2310	2.93e-11	SMART
IG_FLMN	2314	2405	1.67e-38	SMART
IG_FLMN	2408	2500	2.56e-25	SMART
IG_FLMN	2505	2596	9.54e-34	SMART
low complexity region	2618	2628	N/A	INTRINSIC
IG_FLMN	2635	2737	2.11e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000101617

SMART Domains

Protein: ENSMUSP00000099139
Gene: ENSMUSG00000068699

Domain	Start	End	E-Value	Type
CH	39	141	1.17e-25	SMART
CH	162	258	2.09e-22	SMART
IG_FLMN	275	372	3.84e-38	SMART
IG_FLMN	375	472	3.73e-36	SMART
IG_FLMN	474	569	4.41e-38	SMART
IG_FLMN	571	662	3.61e-34	SMART
IG_FLMN	667	762	2.48e-41	SMART
IG_FLMN	764	865	6.7e-29	SMART
IG_FLMN	867	964	3.42e-35	SMART
IG_FLMN	966	1060	2.92e-29	SMART
IG_FLMN	1062	1153	3.69e-40	SMART
IG_FLMN	1155	1248	6.53e-41	SMART
IG_FLMN	1250	1348	7.23e-34	SMART
IG_FLMN	1350	1441	2.04e-42	SMART
IG_FLMN	1443	1537	1.75e-41	SMART
IG_FLMN	1539	1634	1.31e-40	SMART
IG_FLMN	1636	1738	6.11e-32	SMART
IG_FLMN	1744	1825	2.93e-11	SMART
IG_FLMN	1826	1917	2.55e-43	SMART
IG_FLMN	1918	2004	2.43e-17	SMART
IG_FLMN	2008	2099	1.52e-41	SMART
PDB:2E9I\|A	2100	2129	3e-7	PDB
IG_FLMN	2184	2277	2.93e-11	SMART
IG_FLMN	2281	2372	1.67e-38	SMART
IG_FLMN	2375	2467	2.56e-25	SMART
IG_FLMN	2472	2563	9.54e-34	SMART
low complexity region	2585	2595	N/A	INTRINSIC
IG_FLMN	2602	2704	2.11e-26	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 one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a hypomorphic allele display neonatal lethality, respiratory failure, reduced skeletal muscle mass, and abnormal skeletal muscle fiber morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	A	T	14: 56,016,510 (GRCm39)	C314S	probably damaging	Het
Agr2	T	A	12: 36,048,634 (GRCm39)	I128N	probably damaging	Het
Akr1c6	T	C	13: 4,496,412 (GRCm39)	I91T	possibly damaging	Het
Ankrd45	A	G	1: 160,990,909 (GRCm39)	I221V	probably benign	Het
Armc3	A	T	2: 19,293,761 (GRCm39)	L517F	probably damaging	Het
Atp13a3	A	T	16: 30,141,766 (GRCm39)	M1129K	probably benign	Het
Atp6v0a4	T	A	6: 38,031,491 (GRCm39)	Q670L	probably benign	Het
Bank1	T	C	3: 135,806,185 (GRCm39)	Y483C	probably damaging	Het
Bcan	A	T	3: 87,900,357 (GRCm39)		probably benign	Het
Bcl11a	G	A	11: 24,108,333 (GRCm39)	E104K	probably benign	Het
Clasp2	C	T	9: 113,673,208 (GRCm39)	Q368*	probably null	Het
Clcn1	T	A	6: 42,267,037 (GRCm39)	Y71N	probably benign	Het
Cul2	C	T	18: 3,429,634 (GRCm39)	T498I	possibly damaging	Het
Fat4	A	G	3: 39,035,390 (GRCm39)	D3014G	probably damaging	Het
Il36g	C	A	2: 24,077,272 (GRCm39)	S28*	probably null	Het
Itgb3bp	A	G	4: 99,677,923 (GRCm39)		probably benign	Het
Itm2b	G	A	14: 73,603,229 (GRCm39)	P120L	probably damaging	Het
Klk1b26	T	C	7: 43,662,151 (GRCm39)	F3S	possibly damaging	Het
Lin52	T	C	12: 84,504,732 (GRCm39)	V39A	probably damaging	Het
Magt1	A	C	X: 105,032,622 (GRCm39)	N242K	probably benign	Het
Nos3	A	G	5: 24,588,627 (GRCm39)	M1118V	probably damaging	Het
Or1j13	A	T	2: 36,369,734 (GRCm39)	M136K	probably damaging	Het
Or6k2	T	C	1: 173,987,110 (GRCm39)	V257A	probably damaging	Het
Paqr5	A	C	9: 61,880,084 (GRCm39)	L56R	probably damaging	Het
Pcdhb16	T	C	18: 37,612,396 (GRCm39)	F452S	probably damaging	Het
Prdm5	T	A	6: 65,833,116 (GRCm39)		probably benign	Het
Rps6ka5	A	G	12: 100,524,907 (GRCm39)		probably benign	Het
Slc22a5	A	G	11: 53,765,840 (GRCm39)	F249L	probably benign	Het
Spata31f1a	C	A	4: 42,848,362 (GRCm39)	G1265C	probably benign	Het
Ttll2	T	C	17: 7,618,779 (GRCm39)	K383E	probably benign	Het
Ube2o	G	A	11: 116,435,954 (GRCm39)	P353L	probably damaging	Het
Vmn1r63	T	C	7: 5,806,110 (GRCm39)	D174G	probably benign	Het
Vmn2r82	A	G	10: 79,192,643 (GRCm39)		probably null	Het
Xpnpep2	T	A	X: 47,207,205 (GRCm39)		probably benign	Het
Zfp352	T	A	4: 90,111,994 (GRCm39)	S45T	possibly damaging	Het
Zfp811	A	G	17: 33,017,855 (GRCm39)		probably benign	Het
Zfyve19	G	A	2: 119,046,717 (GRCm39)	A304T	probably damaging	Het

Other mutations in Flnc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Flnc	APN	6	29,459,546 (GRCm39)	nonsense	probably null
IGL01099:Flnc	APN	6	29,433,617 (GRCm39)	missense	probably damaging	0.99
IGL01656:Flnc	APN	6	29,443,507 (GRCm39)	splice site	probably benign
IGL01659:Flnc	APN	6	29,448,670 (GRCm39)	missense	probably damaging	0.98
IGL01780:Flnc	APN	6	29,438,492 (GRCm39)	nonsense	probably null
IGL01935:Flnc	APN	6	29,454,279 (GRCm39)	missense	probably damaging	1.00
IGL02039:Flnc	APN	6	29,450,718 (GRCm39)	missense	probably benign	0.05
IGL02119:Flnc	APN	6	29,447,511 (GRCm39)	missense	probably damaging	0.98
IGL02122:Flnc	APN	6	29,444,335 (GRCm39)	missense	possibly damaging	0.70
IGL02236:Flnc	APN	6	29,454,375 (GRCm39)	missense	probably damaging	1.00
IGL02350:Flnc	APN	6	29,438,492 (GRCm39)	nonsense	probably null
IGL02357:Flnc	APN	6	29,438,492 (GRCm39)	nonsense	probably null
IGL02428:Flnc	APN	6	29,451,484 (GRCm39)	missense	probably damaging	1.00
IGL02496:Flnc	APN	6	29,440,684 (GRCm39)	missense	probably damaging	0.98
IGL02516:Flnc	APN	6	29,450,840 (GRCm39)	missense	probably damaging	0.99
IGL02696:Flnc	APN	6	29,446,697 (GRCm39)	missense	probably damaging	0.98
IGL03165:Flnc	APN	6	29,449,377 (GRCm39)	missense	probably damaging	1.00
I1329:Flnc	UTSW	6	29,451,414 (GRCm39)	missense	probably damaging	1.00
R0111:Flnc	UTSW	6	29,454,339 (GRCm39)	missense	probably damaging	0.99
R0665:Flnc	UTSW	6	29,455,530 (GRCm39)	missense	probably damaging	1.00
R0748:Flnc	UTSW	6	29,446,343 (GRCm39)	missense	probably damaging	0.99
R0960:Flnc	UTSW	6	29,441,511 (GRCm39)	missense	probably damaging	1.00
R1328:Flnc	UTSW	6	29,438,612 (GRCm39)	missense	probably damaging	1.00
R1502:Flnc	UTSW	6	29,438,693 (GRCm39)	missense	probably benign	0.45
R1544:Flnc	UTSW	6	29,444,079 (GRCm39)	missense	probably benign	0.00
R1565:Flnc	UTSW	6	29,455,170 (GRCm39)	missense	probably damaging	1.00
R1640:Flnc	UTSW	6	29,433,806 (GRCm39)	missense	possibly damaging	0.78
R1691:Flnc	UTSW	6	29,441,213 (GRCm39)	missense	probably benign	0.09
R1818:Flnc	UTSW	6	29,457,447 (GRCm39)	missense	probably damaging	1.00
R1826:Flnc	UTSW	6	29,455,184 (GRCm39)	missense	probably damaging	0.99
R1851:Flnc	UTSW	6	29,443,478 (GRCm39)	missense	probably damaging	1.00
R1898:Flnc	UTSW	6	29,438,665 (GRCm39)	nonsense	probably null
R1905:Flnc	UTSW	6	29,459,459 (GRCm39)	missense	probably damaging	1.00
R1985:Flnc	UTSW	6	29,444,415 (GRCm39)	splice site	probably benign
R2016:Flnc	UTSW	6	29,443,796 (GRCm39)	critical splice donor site	probably null
R2017:Flnc	UTSW	6	29,443,796 (GRCm39)	critical splice donor site	probably null
R2020:Flnc	UTSW	6	29,444,362 (GRCm39)	missense	probably damaging	0.97
R2104:Flnc	UTSW	6	29,450,734 (GRCm39)	critical splice donor site	probably null
R2132:Flnc	UTSW	6	29,443,675 (GRCm39)	missense	probably damaging	1.00
R2141:Flnc	UTSW	6	29,448,674 (GRCm39)	missense	probably damaging	1.00
R2197:Flnc	UTSW	6	29,459,134 (GRCm39)	missense	probably damaging	1.00
R2202:Flnc	UTSW	6	29,459,507 (GRCm39)	missense	probably damaging	1.00
R2203:Flnc	UTSW	6	29,459,507 (GRCm39)	missense	probably damaging	1.00
R2204:Flnc	UTSW	6	29,459,507 (GRCm39)	missense	probably damaging	1.00
R2205:Flnc	UTSW	6	29,459,507 (GRCm39)	missense	probably damaging	1.00
R2209:Flnc	UTSW	6	29,455,844 (GRCm39)	missense	possibly damaging	0.91
R2248:Flnc	UTSW	6	29,451,400 (GRCm39)	missense	probably damaging	0.99
R2258:Flnc	UTSW	6	29,438,665 (GRCm39)	nonsense	probably null
R2259:Flnc	UTSW	6	29,438,665 (GRCm39)	nonsense	probably null
R2280:Flnc	UTSW	6	29,438,665 (GRCm39)	nonsense	probably null
R2281:Flnc	UTSW	6	29,438,665 (GRCm39)	nonsense	probably null
R2873:Flnc	UTSW	6	29,447,542 (GRCm39)	missense	probably damaging	0.96
R2900:Flnc	UTSW	6	29,448,584 (GRCm39)	missense	probably damaging	0.98
R3788:Flnc	UTSW	6	29,454,056 (GRCm39)	missense	probably damaging	0.99
R3799:Flnc	UTSW	6	29,443,738 (GRCm39)	missense	probably damaging	1.00
R3801:Flnc	UTSW	6	29,447,403 (GRCm39)	missense	probably damaging	0.98
R3851:Flnc	UTSW	6	29,453,718 (GRCm39)	missense	probably damaging	1.00
R3910:Flnc	UTSW	6	29,459,426 (GRCm39)	missense	probably damaging	1.00
R3982:Flnc	UTSW	6	29,442,940 (GRCm39)	missense	probably damaging	1.00
R3983:Flnc	UTSW	6	29,442,940 (GRCm39)	missense	probably damaging	1.00
R4023:Flnc	UTSW	6	29,451,634 (GRCm39)	missense	possibly damaging	0.95
R4676:Flnc	UTSW	6	29,445,153 (GRCm39)	splice site	probably null
R4694:Flnc	UTSW	6	29,443,447 (GRCm39)	missense	probably damaging	1.00
R4695:Flnc	UTSW	6	29,440,428 (GRCm39)	missense	probably damaging	0.99
R4735:Flnc	UTSW	6	29,455,812 (GRCm39)	missense	probably damaging	1.00
R4773:Flnc	UTSW	6	29,445,038 (GRCm39)	missense	possibly damaging	0.96
R4828:Flnc	UTSW	6	29,455,166 (GRCm39)	missense	probably damaging	1.00
R4856:Flnc	UTSW	6	29,447,889 (GRCm39)	missense	probably damaging	1.00
R4879:Flnc	UTSW	6	29,460,805 (GRCm39)	missense	probably damaging	0.99
R4899:Flnc	UTSW	6	29,446,842 (GRCm39)	missense	probably benign	0.17
R4906:Flnc	UTSW	6	29,447,524 (GRCm39)	missense	probably damaging	0.99
R5089:Flnc	UTSW	6	29,447,812 (GRCm39)	missense	probably damaging	0.96
R5173:Flnc	UTSW	6	29,455,537 (GRCm39)	missense	probably damaging	1.00
R5174:Flnc	UTSW	6	29,448,893 (GRCm39)	missense	possibly damaging	0.91
R5290:Flnc	UTSW	6	29,457,553 (GRCm39)	missense	probably damaging	1.00
R5338:Flnc	UTSW	6	29,444,063 (GRCm39)	missense	possibly damaging	0.47
R5352:Flnc	UTSW	6	29,449,317 (GRCm39)	missense	possibly damaging	0.85
R5397:Flnc	UTSW	6	29,441,160 (GRCm39)	missense	possibly damaging	0.87
R5431:Flnc	UTSW	6	29,456,383 (GRCm39)	missense	possibly damaging	0.74
R5481:Flnc	UTSW	6	29,441,216 (GRCm39)	missense	probably damaging	1.00
R5511:Flnc	UTSW	6	29,458,897 (GRCm39)	missense	probably damaging	1.00
R5539:Flnc	UTSW	6	29,446,229 (GRCm39)	missense	probably damaging	1.00
R5549:Flnc	UTSW	6	29,453,690 (GRCm39)	missense	probably damaging	1.00
R5567:Flnc	UTSW	6	29,444,044 (GRCm39)	nonsense	probably null
R5584:Flnc	UTSW	6	29,446,627 (GRCm39)	missense	probably damaging	0.98
R5689:Flnc	UTSW	6	29,441,591 (GRCm39)	missense	probably benign	0.03
R5753:Flnc	UTSW	6	29,433,488 (GRCm39)	missense	probably benign
R5786:Flnc	UTSW	6	29,459,536 (GRCm39)	nonsense	probably null
R5822:Flnc	UTSW	6	29,459,429 (GRCm39)	missense	probably damaging	0.98
R5823:Flnc	UTSW	6	29,461,201 (GRCm39)	missense	probably damaging	0.99
R5933:Flnc	UTSW	6	29,441,105 (GRCm39)	missense	probably damaging	0.99
R6043:Flnc	UTSW	6	29,446,607 (GRCm39)	missense	probably damaging	1.00
R6320:Flnc	UTSW	6	29,459,062 (GRCm39)	missense	probably damaging	1.00
R6337:Flnc	UTSW	6	29,454,318 (GRCm39)	missense	probably damaging	0.99
R6399:Flnc	UTSW	6	29,458,882 (GRCm39)	missense	probably damaging	1.00
R6423:Flnc	UTSW	6	29,445,155 (GRCm39)	splice site	probably null
R6540:Flnc	UTSW	6	29,446,376 (GRCm39)	missense	possibly damaging	0.96
R6547:Flnc	UTSW	6	29,448,607 (GRCm39)	missense	probably damaging	0.98
R6717:Flnc	UTSW	6	29,450,901 (GRCm39)	small deletion	probably benign
R6875:Flnc	UTSW	6	29,445,748 (GRCm39)	missense	probably damaging	1.00
R7193:Flnc	UTSW	6	29,450,870 (GRCm39)	missense	probably damaging	1.00
R7255:Flnc	UTSW	6	29,445,765 (GRCm39)	missense	probably damaging	1.00
R7303:Flnc	UTSW	6	29,460,849 (GRCm39)	missense	probably benign	0.31
R7413:Flnc	UTSW	6	29,452,258 (GRCm39)	missense	probably damaging	1.00
R7422:Flnc	UTSW	6	29,455,470 (GRCm39)	missense	probably damaging	1.00
R7559:Flnc	UTSW	6	29,459,009 (GRCm39)	missense	probably damaging	1.00
R7632:Flnc	UTSW	6	29,446,984 (GRCm39)	missense	probably damaging	0.98
R7651:Flnc	UTSW	6	29,444,049 (GRCm39)	missense	probably benign	0.08
R7679:Flnc	UTSW	6	29,456,789 (GRCm39)	missense	probably benign	0.00
R7697:Flnc	UTSW	6	29,456,516 (GRCm39)	missense	probably damaging	0.98
R7788:Flnc	UTSW	6	29,456,443 (GRCm39)	missense	possibly damaging	0.67
R7852:Flnc	UTSW	6	29,440,897 (GRCm39)	missense	probably damaging	1.00
R7870:Flnc	UTSW	6	29,454,306 (GRCm39)	missense	probably damaging	1.00
R7873:Flnc	UTSW	6	29,456,990 (GRCm39)	missense	possibly damaging	0.88
R7921:Flnc	UTSW	6	29,447,769 (GRCm39)	missense	possibly damaging	0.58
R7950:Flnc	UTSW	6	29,456,381 (GRCm39)	missense	possibly damaging	0.61
R7953:Flnc	UTSW	6	29,447,828 (GRCm39)	missense	probably damaging	0.99
R7970:Flnc	UTSW	6	29,447,525 (GRCm39)	missense	possibly damaging	0.96
R8071:Flnc	UTSW	6	29,457,445 (GRCm39)	missense	probably damaging	1.00
R8143:Flnc	UTSW	6	29,441,484 (GRCm39)	missense	probably benign	0.20
R8166:Flnc	UTSW	6	29,433,731 (GRCm39)	missense	probably damaging	0.99
R8167:Flnc	UTSW	6	29,455,921 (GRCm39)	missense	probably damaging	0.98
R8306:Flnc	UTSW	6	29,449,369 (GRCm39)	missense	probably benign	0.05
R8428:Flnc	UTSW	6	29,450,849 (GRCm39)	missense	probably benign	0.36
R8466:Flnc	UTSW	6	29,438,621 (GRCm39)	missense	probably damaging	0.98
R8671:Flnc	UTSW	6	29,443,501 (GRCm39)	critical splice donor site	probably null
R8885:Flnc	UTSW	6	29,455,410 (GRCm39)	missense	probably damaging	0.96
R8922:Flnc	UTSW	6	29,456,835 (GRCm39)	missense	probably damaging	0.99
R8923:Flnc	UTSW	6	29,452,236 (GRCm39)	missense	probably damaging	1.00
R8985:Flnc	UTSW	6	29,440,499 (GRCm39)	missense	probably benign	0.37
R9075:Flnc	UTSW	6	29,447,646 (GRCm39)	missense	probably damaging	0.96
R9098:Flnc	UTSW	6	29,455,518 (GRCm39)	nonsense	probably null
R9162:Flnc	UTSW	6	29,455,860 (GRCm39)	missense	probably damaging	1.00
R9199:Flnc	UTSW	6	29,441,490 (GRCm39)	missense	probably benign	0.31
R9204:Flnc	UTSW	6	29,452,353 (GRCm39)	missense	possibly damaging	0.93
R9273:Flnc	UTSW	6	29,447,815 (GRCm39)	missense	probably benign	0.08
R9411:Flnc	UTSW	6	29,441,484 (GRCm39)	missense	probably benign
R9412:Flnc	UTSW	6	29,441,484 (GRCm39)	missense	probably benign
R9413:Flnc	UTSW	6	29,441,484 (GRCm39)	missense	probably benign
R9451:Flnc	UTSW	6	29,445,462 (GRCm39)	missense	probably damaging	0.98
R9524:Flnc	UTSW	6	29,461,109 (GRCm39)	missense	probably damaging	1.00
R9575:Flnc	UTSW	6	29,454,399 (GRCm39)	missense	probably damaging	0.98
R9582:Flnc	UTSW	6	29,460,736 (GRCm39)	missense	probably damaging	0.99
R9595:Flnc	UTSW	6	29,433,720 (GRCm39)	missense	probably benign	0.05
R9664:Flnc	UTSW	6	29,457,214 (GRCm39)	missense	probably damaging	1.00
R9665:Flnc	UTSW	6	29,455,447 (GRCm39)	missense	probably damaging	1.00
R9686:Flnc	UTSW	6	29,456,434 (GRCm39)	missense	possibly damaging	0.84
Z1088:Flnc	UTSW	6	29,457,150 (GRCm39)	missense	probably damaging	1.00
Z1177:Flnc	UTSW	6	29,457,129 (GRCm39)	missense	probably damaging	1.00
Z1177:Flnc	UTSW	6	29,447,544 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02