Incidental Mutation 'R4023:Flnc'
ID 313342
Institutional Source Beutler Lab
Gene Symbol Flnc
Ensembl Gene ENSMUSG00000068699
Gene Name filamin C, gamma
Synonyms 1110055E19Rik, Fln2, actin binding protein 280
MMRRC Submission 040957-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4023 (G1)
Quality Score 215
Status Not validated
Chromosome 6
Chromosomal Location 29433255-29461882 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29451634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1591 (I1591T)
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: I1591T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000064163
Gene: ENSMUSG00000068699
AA Change: I1591T

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: I1591T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099139
Gene: ENSMUSG00000068699
AA Change: I1591T

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: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.2%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik CGGG CGGGGGG 15: 76,833,863 (GRCm39) probably benign Het
Acad8 T C 9: 26,890,481 (GRCm39) I276V probably benign Het
Adgrg7 A T 16: 56,550,661 (GRCm39) Y684N probably damaging Het
Akap9 C T 5: 4,042,077 (GRCm39) T1370I possibly damaging Het
Akna C G 4: 63,292,627 (GRCm39) G1094A probably benign Het
Catsperb C A 12: 101,568,942 (GRCm39) Y871* probably null Het
Clcn4 T G 7: 7,293,427 (GRCm39) Y443S probably damaging Het
Clcn6 T A 4: 148,098,740 (GRCm39) T463S possibly damaging Het
Colec10 A G 15: 54,325,947 (GRCm39) D259G probably damaging Het
Ctnna2 A T 6: 77,613,827 (GRCm39) D254E possibly damaging Het
Depdc1a G A 3: 159,221,786 (GRCm39) probably null Het
Dlec1 T C 9: 118,966,408 (GRCm39) Y1126H probably damaging Het
Fezf2 A T 14: 12,343,986 (GRCm38) C302S probably damaging Het
Kidins220 A G 12: 25,107,143 (GRCm39) probably null Het
Mctp2 C A 7: 71,739,987 (GRCm39) C801F possibly damaging Het
Myo1e A G 9: 70,232,157 (GRCm39) I229V probably benign Het
Or5t17 A T 2: 86,833,266 (GRCm39) K318* probably null Het
Or8c17 G A 9: 38,180,757 (GRCm39) C308Y possibly damaging Het
Ppp3r1 T C 11: 17,144,786 (GRCm39) V133A probably damaging Het
Rif1 T A 2: 52,011,099 (GRCm39) Y2389N probably benign Het
Sidt1 A G 16: 44,102,249 (GRCm39) S304P possibly damaging Het
Siglecf T A 7: 43,004,995 (GRCm39) S408R possibly damaging Het
Stat5a T A 11: 100,765,752 (GRCm39) C279* probably null Het
Tas2r105 A G 6: 131,663,789 (GRCm39) V213A probably benign Het
Tasor2 T C 13: 3,634,554 (GRCm39) D751G probably damaging Het
Tektl1 T C 10: 78,588,727 (GRCm39) T28A probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp46 A G 5: 74,193,136 (GRCm39) Y47H probably damaging Het
Vmn1r34 T A 6: 66,614,688 (GRCm39) M17L probably benign Het
Vmn2r120 T A 17: 57,843,718 (GRCm39) D42V possibly damaging Het
Wdr20 A G 12: 110,759,950 (GRCm39) T279A probably benign Het
Zfyve1 A G 12: 83,641,296 (GRCm39) V120A probably benign 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
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'- CCCATGATGCCAGCAAAGTG -3'
(R):5'- GTGCTCACCTGTAACAAGGC -3'

Sequencing Primer
(F):5'- CAAAGTGCGGGCCAGTG -3'
(R):5'- GCACTTGCTGGCATCCC -3'
Posted On 2015-04-30