Incidental Mutation 'R5539:Flnc'
ID 501156
Institutional Source Beutler Lab
Gene Symbol Flnc
Ensembl Gene ENSMUSG00000068699
Gene Name filamin C, gamma
Synonyms 1110055E19Rik, Fln2, actin binding protein 280
MMRRC Submission 043097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5539 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 29433255-29461882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 29446229 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 882 (G882V)
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: G882V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064163
Gene: ENSMUSG00000068699
AA Change: G882V

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: G882V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099139
Gene: ENSMUSG00000068699
AA Change: G882V

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,555,917 (GRCm39) S44C probably damaging Het
Abca4 A G 3: 121,963,557 (GRCm39) I846V probably damaging Het
Aldh4a1 T C 4: 139,365,833 (GRCm39) S275P probably benign Het
Arhgap12 A T 18: 6,111,932 (GRCm39) L144H probably benign Het
Ccdc141 A T 2: 76,845,437 (GRCm39) I1210N probably damaging Het
Ccdc175 T C 12: 72,191,587 (GRCm39) T330A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dnah17 T C 11: 117,964,486 (GRCm39) K2444E probably benign Het
Dnajc3 G A 14: 119,208,159 (GRCm39) V265M probably damaging Het
Flg2 T A 3: 93,127,753 (GRCm39) Y2222N unknown Het
Fndc5 T A 4: 129,032,514 (GRCm39) V39D probably damaging Het
Gabrr3 A T 16: 59,281,758 (GRCm39) H371L probably benign Het
Gm10717 A T 9: 3,030,438 (GRCm39) H33L probably damaging Het
Gm5422 A G 10: 31,124,646 (GRCm39) noncoding transcript Het
Kri1 G A 9: 21,190,668 (GRCm39) Q280* probably null Het
Lcp1 T C 14: 75,466,738 (GRCm39) V615A probably benign Het
Ltbp4 T C 7: 27,027,149 (GRCm39) Y407C probably damaging Het
Med30 G T 15: 52,584,462 (GRCm39) D127Y probably damaging Het
Mybpc2 A G 7: 44,164,317 (GRCm39) V416A probably benign Het
Notch2 C T 3: 98,044,898 (GRCm39) R1607C probably damaging Het
Nr4a3 T A 4: 48,056,525 (GRCm39) probably null Het
Ntf5 G T 7: 45,065,354 (GRCm39) R162L probably benign Het
Nxpe3 A G 16: 55,711,034 (GRCm39) W2R possibly damaging Het
Or10d1c T C 9: 38,893,573 (GRCm39) I256V possibly damaging Het
Or14j4 T A 17: 37,921,646 (GRCm39) M1L probably benign Het
Or1m1 G A 9: 18,666,134 (GRCm39) R266C probably damaging Het
Or5p58 A T 7: 107,694,433 (GRCm39) C115S probably benign Het
Pan2 C A 10: 128,144,002 (GRCm39) D99E probably benign Het
Pcdh12 T C 18: 38,414,797 (GRCm39) H776R possibly damaging Het
Prdm2 T C 4: 142,859,264 (GRCm39) H1342R possibly damaging Het
Prpf8 A G 11: 75,394,464 (GRCm39) T1800A probably benign Het
Prss40 T C 1: 34,591,760 (GRCm39) *148W probably null Het
Pygo1 C T 9: 72,852,061 (GRCm39) P83S probably damaging Het
Raf1 G T 6: 115,596,317 (GRCm39) S619R probably damaging Het
Rtf1 A G 2: 119,560,405 (GRCm39) M596V possibly damaging Het
Slc12a5 T A 2: 164,829,126 (GRCm39) D578E possibly damaging Het
Slc35b4 A G 6: 34,153,737 (GRCm39) V18A probably damaging Het
Spata31 T A 13: 65,070,783 (GRCm39) I977K probably benign Het
Tor2a T C 2: 32,650,672 (GRCm39) I222T probably damaging Het
Trim23 T C 13: 104,334,541 (GRCm39) V347A probably damaging Het
Trip11 A G 12: 101,851,386 (GRCm39) S893P probably damaging Het
Trmt10c G A 16: 55,855,324 (GRCm39) P104S probably damaging Het
Ubr3 A T 2: 69,850,877 (GRCm39) Y1765F probably damaging Het
Zfp951 C T 5: 104,962,712 (GRCm39) E285K 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
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
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'- AGTCCCTTCCACATCAAGGTG -3'
(R):5'- CTGAAGAGGCCATTCTCAGGTG -3'

Sequencing Primer
(F):5'- TCAAGGTGGACCCATCCCATG -3'
(R):5'- GCCATTCTCAGGTGCCATCAG -3'
Posted On 2017-12-01