Incidental Mutation 'R3799:Flnc'
ID 272876
Institutional Source Beutler Lab
Gene Symbol Flnc
Ensembl Gene ENSMUSG00000068699
Gene Name filamin C, gamma
Synonyms 1110055E19Rik, Fln2, actin binding protein 280
MMRRC Submission 040877-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3799 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 29433255-29461882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 29443738 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 587 (V587M)
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: V587M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064163
Gene: ENSMUSG00000068699
AA Change: V587M

DomainStartEndE-ValueType
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: V587M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099139
Gene: ENSMUSG00000068699
AA Change: V587M

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148404
Meta Mutation Damage Score 0.5775 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 97% (35/36)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 A G 4: 128,660,863 (GRCm39) T140A probably damaging Het
Adgrf3 T C 5: 30,401,821 (GRCm39) I736V possibly damaging Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Ccna1 G T 3: 54,958,040 (GRCm39) T155K probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Dnah12 T C 14: 26,492,880 (GRCm39) W1214R probably damaging Het
Ehbp1l1 A G 19: 5,769,143 (GRCm39) V720A probably benign Het
Exog T G 9: 119,278,876 (GRCm39) N186K probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Gm1527 A G 3: 28,980,745 (GRCm39) N615S possibly damaging Het
Gm5799 G A 14: 43,781,150 (GRCm39) G17E probably damaging Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Mastl T C 2: 23,030,504 (GRCm39) probably benign Het
Mogat1 A G 1: 78,505,775 (GRCm39) I216V probably benign Het
Nans A G 4: 46,492,839 (GRCm39) E89G probably benign Het
Nuggc T A 14: 65,857,087 (GRCm39) M396K probably benign Het
Nup214 T C 2: 31,924,694 (GRCm39) F236S probably damaging Het
Osbp2 T C 11: 3,667,883 (GRCm39) E145G probably damaging Het
Paqr3 T C 5: 97,259,175 (GRCm39) N43S probably damaging Het
Pard3b A G 1: 62,200,388 (GRCm39) N309S probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Ralgapa1 T C 12: 55,705,915 (GRCm39) Y1869C probably damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Tcaf3 T C 6: 42,574,014 (GRCm39) E66G probably damaging Het
Tdpoz8 A T 3: 92,981,393 (GRCm39) D137V probably damaging Het
Tmem8b A G 4: 43,673,892 (GRCm39) probably benign Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Vmn2r25 A T 6: 123,830,143 (GRCm39) L3I probably benign Het
Vmn2r76 T C 7: 85,875,244 (GRCm39) T578A probably benign Het
Vwa8 T A 14: 79,302,336 (GRCm39) F1002I probably damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F probably damaging Het
Other mutations in Flnc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGGTAAGCACAATGCCTCCTC -3'
(R):5'- CAATCTTGGCTTGTGAGGGC -3'

Sequencing Primer
(F):5'- GTAAGCACAATGCCTCCTCCCTATC -3'
(R):5'- AGGCAGGTCCCCCATGTTTC -3'
Posted On 2015-03-25