Incidental Mutation 'IGL02122:Flnc'
ID 280662
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 # IGL02122
Quality Score
Status
Chromosome 6
Chromosomal Location 29433255-29461882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 29444335 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 684 (I684L)
Ref Sequence ENSEMBL: ENSMUSP00000099139 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065090] [ENSMUST00000101617]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000065090
AA Change: I684L

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000064163
Gene: ENSMUSG00000068699
AA Change: I684L

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 possibly damaging
Transcript: ENSMUST00000101617
AA Change: I684L

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099139
Gene: ENSMUSG00000068699
AA Change: I684L

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,217,299 (GRCm39) T756I possibly damaging Het
Abi3bp T C 16: 56,507,491 (GRCm39) probably benign Het
Adcy5 G A 16: 35,103,982 (GRCm39) probably benign Het
Adcy6 T A 15: 98,496,763 (GRCm39) H504L possibly damaging Het
Ank2 A G 3: 126,731,523 (GRCm39) probably benign Het
Atxn2 A G 5: 121,916,093 (GRCm39) D34G probably damaging Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Carmil1 T C 13: 24,220,541 (GRCm39) E657G possibly damaging Het
Cdc25c T C 18: 34,877,038 (GRCm39) I212V probably benign Het
Chl1 A G 6: 103,652,098 (GRCm39) D338G probably benign Het
Cog6 T C 3: 52,905,763 (GRCm39) I361V probably benign Het
Dip2c T C 13: 9,556,695 (GRCm39) S80P possibly damaging Het
Dmrtc2 A T 7: 24,572,008 (GRCm39) R34S possibly damaging Het
Exph5 A G 9: 53,284,974 (GRCm39) N685S probably benign Het
Foxk1 T A 5: 142,437,184 (GRCm39) probably benign Het
Gprc6a T C 10: 51,502,819 (GRCm39) N348S probably benign Het
Gspt1 T C 16: 11,047,080 (GRCm39) K445R probably damaging Het
Hace1 T C 10: 45,494,700 (GRCm39) V170A probably damaging Het
Hydin T C 8: 111,221,047 (GRCm39) I1481T possibly damaging Het
Ighv4-1 A T 12: 113,912,145 (GRCm39) L36Q possibly damaging Het
Ints1 G A 5: 139,750,905 (GRCm39) Q833* probably null Het
Myo15a T C 11: 60,374,292 (GRCm39) F96L probably benign Het
Myom1 G T 17: 71,399,132 (GRCm39) R998L probably damaging Het
Nacc2 A G 2: 25,979,960 (GRCm39) S159P probably benign Het
Or5k15 T C 16: 58,710,134 (GRCm39) T150A probably benign Het
Or5w10 A G 2: 87,375,447 (GRCm39) V147A probably benign Het
Or7e177 T A 9: 20,211,880 (GRCm39) L128Q probably damaging Het
Pbrm1 A G 14: 30,811,573 (GRCm39) I1197V probably damaging Het
Pde4dip G A 3: 97,674,737 (GRCm39) R60C probably damaging Het
Pfkfb4 C T 9: 108,854,178 (GRCm39) R351W probably damaging Het
Pitpnm1 T C 19: 4,157,796 (GRCm39) Y499H probably damaging Het
Plekhn1 C T 4: 156,308,313 (GRCm39) probably null Het
Prmt8 A G 6: 127,667,680 (GRCm39) Y332H probably benign Het
Prpf38a A G 4: 108,436,238 (GRCm39) I25T possibly damaging Het
Rpf1 T C 3: 146,227,022 (GRCm39) K44E probably benign Het
Rusc2 T C 4: 43,421,685 (GRCm39) F702L possibly damaging Het
Ryr2 A T 13: 11,756,755 (GRCm39) I1633K probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Tkt T C 14: 30,293,158 (GRCm39) V510A possibly damaging Het
Tmem106a C A 11: 101,481,240 (GRCm39) N249K probably damaging Het
Tmpo A T 10: 90,999,998 (GRCm39) S157T possibly damaging Het
Tspan32 A T 7: 142,569,372 (GRCm39) I144F probably damaging Het
Ufsp2 G A 8: 46,448,685 (GRCm39) V429I probably benign Het
Unc13c T A 9: 73,641,679 (GRCm39) probably benign Het
Usp47 A T 7: 111,706,115 (GRCm39) K1259M probably damaging Het
Zdhhc18 A T 4: 133,340,946 (GRCm39) probably benign Het
Zfp507 G T 7: 35,475,520 (GRCm39) L898I 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
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
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 2015-04-16