Incidental Mutation 'IGL02930:Flna'
ID364054
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? Possibly essential (E-score: 0.708) question?
Stock #IGL02930
Quality Score
Status
ChromosomeX
Chromosomal Location74223461-74249820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 74223900 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 2548 (R2548C)
Ref Sequence ENSEMBL: ENSMUSP00000121082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033699] [ENSMUST00000101454] [ENSMUST00000114299] [ENSMUST00000130007] [ENSMUST00000150554]
Predicted Effect probably damaging
Transcript: ENSMUST00000033699
AA Change: R2612C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033699
Gene: ENSMUSG00000031328
AA Change: R2612C

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 probably damaging
Transcript: ENSMUST00000101454
AA Change: R2604C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098997
Gene: ENSMUSG00000031328
AA Change: R2604C

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 probably damaging
Transcript: ENSMUST00000114299
AA Change: R2604C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109938
Gene: ENSMUSG00000031328
AA Change: R2604C

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: R2548C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121082
Gene: ENSMUSG00000031328
AA Change: R2548C

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: 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 probably benign
Transcript: ENSMUST00000150554
SMART Domains Protein: ENSMUSP00000116758
Gene: ENSMUSG00000031328

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,378,226 N3433S possibly damaging Het
Actl9 T C 17: 33,434,099 S378P probably damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Ankef1 T C 2: 136,550,325 I478T possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cmtm2b A C 8: 104,329,770 M104L probably benign Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Elobl T G 11: 88,965,186 D17A possibly damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Prokr2 T C 2: 132,373,474 S195G probably benign Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rps6kl1 T C 12: 85,149,774 T39A probably benign Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Tbx21 A G 11: 97,100,039 I271T probably damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R 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
IGL02965:Flna APN X 74227210 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