Mutagenetix > Incidental Mutation

Incidental Mutation 'R6399:Flnc'

516098

Institutional Source

Beutler Lab

Gene Symbol

Flnc

Ensembl Gene

ENSMUSG00000068699

Gene Name

filamin C, gamma

Synonyms

1110055E19Rik, Fln2, actin binding protein 280

MMRRC Submission

044546-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6399 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29433255-29461882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29458882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 2421 (E2421G)

Ref Sequence

ENSEMBL: ENSMUSP00000099139 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000065090
AA Change: E2454G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064163
Gene: ENSMUSG00000068699
AA Change: E2454G

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 damaging
Transcript: ENSMUST00000101617
AA Change: E2421G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099139
Gene: ENSMUSG00000068699
AA Change: E2421G

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

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 95.7%

Validation Efficiency

97% (28/29)

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,645,821 (GRCm39)	C569R	probably damaging	Het
Acadsb	T	A	7: 131,031,784 (GRCm39)	W207R	probably damaging	Het
Apbb2	C	T	5: 66,608,810 (GRCm39)		probably null	Het
Atad2b	T	C	12: 5,007,558 (GRCm39)	V415A	probably damaging	Het
Ccdc150	G	A	1: 54,303,116 (GRCm39)		probably null	Het
Cep20	TTGTG	TTG	16: 14,118,009 (GRCm39)		probably null	Het
Chd7	A	G	4: 8,828,274 (GRCm39)	T1072A	probably damaging	Het
Depdc1b	T	A	13: 108,460,580 (GRCm39)	F63L	probably damaging	Het
Dnah2	C	T	11: 69,349,344 (GRCm39)	V2431M	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Kcna4	T	C	2: 107,126,894 (GRCm39)	S543P	probably damaging	Het
Lrrc30	T	A	17: 67,939,681 (GRCm39)		probably benign	Het
Msh6	T	A	17: 88,294,319 (GRCm39)	S1025T	probably damaging	Het
Ndrg3	C	G	2: 156,782,294 (GRCm39)	A191P	probably damaging	Het
Or1o4	T	C	17: 37,590,666 (GRCm39)	Y215C	probably damaging	Het
Or5aq7	C	T	2: 86,938,330 (GRCm39)	V134I	probably benign	Het
Or5p5	A	G	7: 107,413,961 (GRCm39)	T57A	possibly damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Rnf34	T	C	5: 122,999,839 (GRCm39)	F32L	probably benign	Het
Serpinb9g	A	T	13: 33,676,834 (GRCm39)	L205F	probably benign	Het
Tbc1d24	T	A	17: 24,427,303 (GRCm39)	I220F	probably damaging	Het
Thsd7b	A	T	1: 129,744,385 (GRCm39)	T758S	probably benign	Het
Trak1	A	G	9: 121,282,562 (GRCm39)		probably null	Het
Ttn	G	C	2: 76,556,407 (GRCm39)	F30199L	probably benign	Het
Ttn	T	G	2: 76,556,406 (GRCm39)	S30200R	probably damaging	Het
Uggt1	T	C	1: 36,202,447 (GRCm39)	D1050G	possibly damaging	Het
Veph1	T	A	3: 66,033,312 (GRCm39)	S605C	probably benign	Het
Wbp1	A	G	6: 83,096,982 (GRCm39)		probably benign	Het
Ythdc2	C	A	18: 45,019,469 (GRCm39)	Q1413K	possibly 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
IGL03190:Flnc	APN	6	29,445,636 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCCTTCCCTGCAATCTGG -3'
(R):5'- TGAGTGGACACCGTTCTCATG -3'

Sequencing Primer
(F):5'- CTGAGCTGGCCGTACAGTAAAAAC -3'
(R):5'- ACACCGTTCTCATGGGGGATG -3'

Posted On

2018-05-04