Incidental Mutation 'IGL02965:Flna'
ID365549
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Flna
Ensembl Gene ENSMUSG00000031328
Gene Namefilamin, alpha
SynonymsGENA 379, ABP-280, filamin-1, Dilp2, F730004A14Rik, actin-binding protein 280, Fln1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.786) question?
Stock #IGL02965
Quality Score
Status
ChromosomeX
Chromosomal Location74223461-74249820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 74227210 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 2235 (V2235I)
Ref Sequence ENSEMBL: ENSMUSP00000121082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033699] [ENSMUST00000101454] [ENSMUST00000114299] [ENSMUST00000130007] [ENSMUST00000150554]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033699
AA Change: V2299I

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033699
Gene: ENSMUSG00000031328
AA Change: V2299I

DomainStartEndE-ValueType
CH 45 147 1.71e-27 SMART
CH 168 264 8.03e-24 SMART
IG_FLMN 280 377 1.08e-32 SMART
IG_FLMN 380 477 1.46e-38 SMART
IG_FLMN 479 573 3.42e-35 SMART
IG_FLMN 575 666 3.94e-26 SMART
IG_FLMN 671 766 1.9e-42 SMART
IG_FLMN 768 869 6.76e-25 SMART
IG_FLMN 871 968 2.96e-30 SMART
IG_FLMN 970 1064 1.66e-24 SMART
IG_FLMN 1066 1157 3.61e-43 SMART
IG_FLMN 1159 1252 3.29e-37 SMART
IG_FLMN 1254 1352 9.92e-32 SMART
IG_FLMN 1354 1445 1.56e-38 SMART
IG_FLMN 1447 1542 3.05e-41 SMART
IG_FLMN 1544 1639 7.8e-39 SMART
IG_FLMN 1641 1743 2.94e-34 SMART
IG_FLMN 1772 1863 9.8e-13 SMART
IG_FLMN 1864 1955 3.69e-40 SMART
IG_FLMN 1956 2042 2.13e-13 SMART
IG_FLMN 2046 2137 9.52e-43 SMART
IG_FLMN 2150 2233 1.61e-8 SMART
IG_FLMN 2237 2328 1.56e-38 SMART
IG_FLMN 2331 2423 3.17e-30 SMART
IG_FLMN 2428 2519 2.11e-35 SMART
IG_FLMN 2556 2647 1.84e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000101454
AA Change: V2291I

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000098997
Gene: ENSMUSG00000031328
AA Change: V2291I

DomainStartEndE-ValueType
CH 45 147 1.71e-27 SMART
CH 168 264 8.03e-24 SMART
IG_FLMN 280 377 1.08e-32 SMART
IG_FLMN 380 477 1.46e-38 SMART
IG_FLMN 479 573 3.42e-35 SMART
IG_FLMN 575 666 3.94e-26 SMART
IG_FLMN 671 766 1.9e-42 SMART
IG_FLMN 768 869 6.76e-25 SMART
IG_FLMN 871 968 2.96e-30 SMART
IG_FLMN 970 1064 1.66e-24 SMART
IG_FLMN 1066 1157 3.61e-43 SMART
IG_FLMN 1159 1252 3.29e-37 SMART
IG_FLMN 1254 1352 9.92e-32 SMART
IG_FLMN 1354 1445 1.56e-38 SMART
IG_FLMN 1447 1542 3.05e-41 SMART
IG_FLMN 1544 1639 7.8e-39 SMART
IG_FLMN 1641 1735 1.86e-36 SMART
IG_FLMN 1764 1855 9.8e-13 SMART
IG_FLMN 1856 1947 3.69e-40 SMART
IG_FLMN 1948 2034 2.13e-13 SMART
IG_FLMN 2038 2129 9.52e-43 SMART
IG_FLMN 2142 2225 1.61e-8 SMART
IG_FLMN 2229 2320 1.56e-38 SMART
IG_FLMN 2323 2415 3.17e-30 SMART
IG_FLMN 2420 2511 2.11e-35 SMART
IG_FLMN 2548 2639 1.84e-26 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000114299
AA Change: V2291I

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000109938
Gene: ENSMUSG00000031328
AA Change: V2291I

DomainStartEndE-ValueType
CH 45 147 1.71e-27 SMART
CH 168 264 8.03e-24 SMART
IG_FLMN 280 377 1.08e-32 SMART
IG_FLMN 380 477 1.46e-38 SMART
IG_FLMN 479 573 3.42e-35 SMART
IG_FLMN 575 666 3.94e-26 SMART
IG_FLMN 671 766 1.9e-42 SMART
IG_FLMN 768 869 6.76e-25 SMART
IG_FLMN 871 968 2.96e-30 SMART
IG_FLMN 970 1064 1.66e-24 SMART
IG_FLMN 1066 1157 3.61e-43 SMART
IG_FLMN 1159 1252 3.29e-37 SMART
IG_FLMN 1254 1352 9.92e-32 SMART
IG_FLMN 1354 1445 1.56e-38 SMART
IG_FLMN 1447 1542 3.05e-41 SMART
IG_FLMN 1544 1639 7.8e-39 SMART
IG_FLMN 1641 1735 1.86e-36 SMART
IG_FLMN 1764 1855 9.8e-13 SMART
IG_FLMN 1856 1947 3.69e-40 SMART
IG_FLMN 1948 2034 2.13e-13 SMART
IG_FLMN 2038 2129 9.52e-43 SMART
IG_FLMN 2142 2225 1.61e-8 SMART
IG_FLMN 2229 2320 1.56e-38 SMART
IG_FLMN 2323 2415 3.17e-30 SMART
IG_FLMN 2420 2511 2.11e-35 SMART
IG_FLMN 2548 2639 1.84e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124950
Predicted Effect probably benign
Transcript: ENSMUST00000127463
SMART Domains Protein: ENSMUSP00000114827
Gene: ENSMUSG00000031328

DomainStartEndE-ValueType
SCOP:d1qfha1 2 23 5e-5 SMART
IG_FLMN 55 146 9.8e-13 SMART
IG_FLMN 147 267 1.29e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127924
SMART Domains Protein: ENSMUSP00000117324
Gene: ENSMUSG00000031328

DomainStartEndE-ValueType
SCOP:d1qfha2 2 33 3e-6 SMART
Blast:IG_FLMN 16 72 9e-33 BLAST
PDB:2K7Q|A 16 72 3e-33 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000130007
AA Change: V2235I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000121082
Gene: ENSMUSG00000031328
AA Change: V2235I

DomainStartEndE-ValueType
CH 21 123 1.71e-27 SMART
CH 144 240 8.03e-24 SMART
IG_FLMN 256 353 1.08e-32 SMART
IG_FLMN 356 453 1.46e-38 SMART
IG_FLMN 455 549 3.42e-35 SMART
IG_FLMN 551 642 3.94e-26 SMART
IG_FLMN 647 742 1.9e-42 SMART
IG_FLMN 744 845 6.76e-25 SMART
IG_FLMN 847 944 2.96e-30 SMART
IG_FLMN 946 1040 1.66e-24 SMART
IG_FLMN 1042 1133 3.61e-43 SMART
IG_FLMN 1135 1228 3.29e-37 SMART
IG_FLMN 1230 1328 9.92e-32 SMART
IG_FLMN 1330 1421 1.56e-38 SMART
IG_FLMN 1423 1518 3.05e-41 SMART
IG_FLMN 1520 1615 7.8e-39 SMART
IG_FLMN 1617 1711 3.67e-35 SMART
IG_FLMN 1715 1799 1.19e-11 SMART
IG_FLMN 1800 1891 3.69e-40 SMART
IG_FLMN 1892 1978 2.13e-13 SMART
IG_FLMN 1982 2073 9.52e-43 SMART
IG_FLMN 2086 2169 1.61e-8 SMART
IG_FLMN 2173 2264 1.56e-38 SMART
IG_FLMN 2267 2359 3.17e-30 SMART
IG_FLMN 2364 2455 2.11e-35 SMART
IG_FLMN 2492 2583 1.84e-26 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130203
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133174
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133609
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141528
Predicted Effect probably benign
Transcript: ENSMUST00000144429
SMART Domains Protein: ENSMUSP00000123278
Gene: ENSMUSG00000031328

DomainStartEndE-ValueType
CH 33 135 1.71e-27 SMART
CH 156 252 8.03e-24 SMART
IG_FLMN 268 365 1.08e-32 SMART
IG_FLMN 368 465 1.46e-38 SMART
internal_repeat_1 467 510 3.09e-8 PROSPERO
Predicted Effect possibly damaging
Transcript: ENSMUST00000150554
AA Change: V239I

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116758
Gene: ENSMUSG00000031328
AA Change: V239I

DomainStartEndE-ValueType
IG_FLMN 27 173 2.11e-35 SMART
IG_FLMN 177 268 1.56e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156766
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an actin-binding protein that crosslinks actin filaments and links actin filaments to membrane glycoproteins. The encoded protein is involved in remodeling the cytoskeleton to effect changes in cell shape and migration. This protein interacts with integrins, transmembrane receptor complexes, and second messengers. Defects in this gene are a cause of several syndromes, including periventricular nodular heterotopias (PVNH1, PVNH4), otopalatodigital syndromes (OPD1, OPD2), frontometaphyseal dysplasia (FMD), Melnick-Needles syndrome (MNS), and X-linked congenital idiopathic intestinal pseudoobstruction (CIIPX). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]
PHENOTYPE: Females heterozygous for an X-linked, ENU-induced mutation exhibit dilated pupils and milder cardiac, sternum, and palate defects than males. Hemizygous males are inviable and exhibit incomplete septation of the outflow tract, septal defects, cleft palate and incomplete fusion of the sternum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,180,613 K1471R probably benign Het
Add1 A G 5: 34,620,123 S77G probably damaging Het
Atm G T 9: 53,453,563 N2642K probably damaging Het
Atp6v0a2 T A 5: 124,629,202 M10K possibly damaging Het
Btd T A 14: 31,667,236 S305T probably damaging Het
Cmya5 C T 13: 93,092,557 V2008I probably benign Het
Cpd T G 11: 76,790,988 probably benign Het
Dis3l A G 9: 64,310,484 F772L probably damaging Het
Dlg5 A T 14: 24,172,023 I517N probably damaging Het
Fig4 G A 10: 41,285,665 T34M probably damaging Het
Flot2 T C 11: 78,059,205 I371T possibly damaging Het
Fsip2 G A 2: 82,983,054 S3239N probably benign Het
Gbp3 A G 3: 142,567,582 I297V probably benign Het
Gcnt3 T C 9: 70,034,953 E111G probably benign Het
Gdi1 G T X: 74,307,725 A148S probably benign Het
Heatr5b G A 17: 78,753,073 H2058Y probably benign Het
Hsp90aa1 A G 12: 110,695,679 M1T probably null Het
Iltifb A G 10: 118,294,857 S45P probably damaging Het
Inppl1 C A 7: 101,828,271 V715F possibly damaging Het
Kansl1 T C 11: 104,335,165 Y975C probably damaging Het
Kif18b A G 11: 102,916,512 probably benign Het
Krt40 T A 11: 99,541,666 R175W probably damaging Het
Map3k19 T C 1: 127,824,066 D516G probably damaging Het
Mfsd3 A G 15: 76,703,152 H345R probably benign Het
Mlkl A T 8: 111,331,837 I162N probably benign Het
Mtnr1a A T 8: 45,069,382 N58I probably damaging Het
Nsmf T C 2: 25,061,762 V499A probably damaging Het
Nudt6 A G 3: 37,419,506 L22P probably damaging Het
Nxf7 T G X: 135,589,410 E35A probably damaging Het
Olfr748 A C 14: 50,711,196 I289L probably damaging Het
Paf1 T C 7: 28,396,204 probably null Het
Pcdhb11 G T 18: 37,423,968 V784L probably benign Het
Pglyrp2 T C 17: 32,418,586 D156G probably benign Het
Pnpt1 A G 11: 29,156,939 D670G probably damaging Het
Polr1b T A 2: 129,125,523 H945Q probably benign Het
Ptk6 C T 2: 181,199,068 probably benign Het
Rftn1 C T 17: 50,055,252 E273K probably benign Het
Rnf125 A G 18: 20,983,111 I117V probably benign Het
Robo4 A G 9: 37,410,469 K742R possibly damaging Het
Sez6l T C 5: 112,475,574 E37G probably damaging Het
Skint4 A T 4: 112,136,021 I306L probably benign Het
Sntb1 A T 15: 55,642,685 Y497* probably null Het
Snx27 C A 3: 94,582,426 V42L probably damaging Het
Sorbs1 T A 19: 40,376,743 T199S probably benign Het
Sorcs2 A G 5: 36,077,957 Y72H probably benign Het
Spef2 G T 15: 9,725,106 probably benign Het
Sucla2 G T 14: 73,579,431 V204L probably benign Het
Tescl C A 7: 24,333,673 V76F probably damaging Het
Tnxb T A 17: 34,709,654 Y2681N possibly damaging Het
Usp42 T C 5: 143,728,014 T2A probably damaging Het
Vdac3-ps1 T A 13: 18,030,846 noncoding transcript Het
Wapl T A 14: 34,739,224 probably benign Het
Other mutations in Flna
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00901:Flna APN X 74229928 missense probably damaging 1.00
IGL02048:Flna APN X 74228500 missense probably benign 0.05
IGL02413:Flna APN X 74241282 missense probably benign 0.01
IGL02620:Flna APN X 74229976 unclassified probably benign
IGL02930:Flna APN X 74223900 missense probably damaging 1.00
IGL03218:Flna APN X 74234602 critical splice donor site probably null
R1864:Flna UTSW X 74240263 missense probably benign 0.00
R3969:Flna UTSW X 74235667 missense probably damaging 1.00
R3970:Flna UTSW X 74235667 missense probably damaging 1.00
R4084:Flna UTSW X 74236925 missense possibly damaging 0.61
Posted On2015-12-18