Incidental Mutation 'IGL02413:Flna'
ID292346
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: 0.656) question?
Stock #IGL02413
Quality Score
Status
ChromosomeX
Chromosomal Location74223461-74249820 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 74241282 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 417 (E417G)
Ref Sequence ENSEMBL: ENSMUSP00000033699 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033699] [ENSMUST00000101454] [ENSMUST00000114299] [ENSMUST00000130007]
Predicted Effect probably benign
Transcript: ENSMUST00000033699
AA Change: E417G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000033699
Gene: ENSMUSG00000031328
AA Change: E417G

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 benign
Transcript: ENSMUST00000101454
AA Change: E417G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000098997
Gene: ENSMUSG00000031328
AA Change: E417G

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 benign
Transcript: ENSMUST00000114299
AA Change: E417G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000109938
Gene: ENSMUSG00000031328
AA Change: E417G

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 benign
Transcript: ENSMUST00000130007
AA Change: E393G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121082
Gene: ENSMUSG00000031328
AA Change: E393G

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: ENSMUST00000133288
Predicted Effect unknown
Transcript: ENSMUST00000144429
AA Change: E404G
SMART Domains Protein: ENSMUSP00000123278
Gene: ENSMUSG00000031328
AA Change: E404G

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
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
Abcc5 C A 16: 20,422,437 probably benign Het
Afap1l1 A G 18: 61,733,789 L733P probably benign Het
Aqr G A 2: 114,118,780 A979V possibly damaging Het
Axin1 A G 17: 26,188,179 E582G probably benign Het
Catsper1 T C 19: 5,336,236 S166P possibly damaging Het
Cd248 G T 19: 5,070,173 G683V probably damaging Het
Celsr1 G T 15: 86,031,226 Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 V324F probably benign Het
Ctrc C A 4: 141,843,717 V71L possibly damaging Het
Exoc3l C A 8: 105,292,438 D465Y probably damaging Het
Fam205c T C 4: 42,868,549 D358G probably damaging Het
Grm6 T A 11: 50,859,939 V643D probably damaging Het
Inpp4b A G 8: 82,033,171 Y615C probably benign Het
Itga3 T C 11: 95,068,771 Y92C probably damaging Het
Jak3 T C 8: 71,686,119 probably null Het
Kcnh6 T A 11: 106,027,634 I823N possibly damaging Het
Klhl38 A T 15: 58,323,021 V104D probably damaging Het
Lpo C T 11: 87,806,906 V692M possibly damaging Het
Mnd1 T C 3: 84,116,479 H100R probably benign Het
Mterf4 A G 1: 93,302,804 F207L probably damaging Het
Olfr1395 T C 11: 49,148,557 L100P probably damaging Het
Oog3 C A 4: 144,158,151 W405L probably benign Het
Ptpn3 A G 4: 57,205,020 Y714H probably damaging Het
Steap3 T C 1: 120,241,772 Y265C probably damaging Het
Tcl1 C A 12: 105,218,823 E43* probably null Het
Terb1 A G 8: 104,494,868 probably null Het
Tmprss11a T A 5: 86,422,648 I151F possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Usp17le T C 7: 104,769,726 N70D probably benign Het
Vmn1r45 T C 6: 89,933,521 S36G possibly damaging Het
Vsig8 A C 1: 172,560,376 Y11S probably damaging Het
Vwa5b2 T A 16: 20,598,101 L516Q probably damaging 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
IGL02620:Flna APN X 74229976 unclassified probably benign
IGL02930:Flna APN X 74223900 missense probably damaging 1.00
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 On2015-04-16