Incidental Mutation 'IGL02634:Fblim1'
ID 301419
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fblim1
Ensembl Gene ENSMUSG00000006219
Gene Name filamin binding LIM protein 1
Synonyms migfilin(s), Fblp1, migfilin, Cal, 2410043F08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02634
Quality Score
Status
Chromosome 4
Chromosomal Location 141303373-141333351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141310422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 280 (D280G)
Ref Sequence ENSEMBL: ENSMUSP00000101411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006381] [ENSMUST00000105784] [ENSMUST00000105785]
AlphaFold Q71FD7
Predicted Effect probably benign
Transcript: ENSMUST00000006381
AA Change: D280G

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006381
Gene: ENSMUSG00000006219
AA Change: D280G

DomainStartEndE-ValueType
PDB:2K9U|B 1 24 3e-7 PDB
low complexity region 86 120 N/A INTRINSIC
low complexity region 160 179 N/A INTRINSIC
LIM 184 237 6e-18 SMART
LIM 244 296 2.98e-13 SMART
LIM 304 365 3.32e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105784
AA Change: D280G

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101410
Gene: ENSMUSG00000006219
AA Change: D280G

DomainStartEndE-ValueType
PDB:2K9U|B 1 24 3e-7 PDB
low complexity region 86 120 N/A INTRINSIC
low complexity region 160 179 N/A INTRINSIC
LIM 184 237 6e-18 SMART
LIM 244 296 2.98e-13 SMART
LIM 304 365 3.32e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105785
AA Change: D280G

PolyPhen 2 Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000101411
Gene: ENSMUSG00000006219
AA Change: D280G

DomainStartEndE-ValueType
PDB:2K9U|B 1 24 3e-7 PDB
low complexity region 86 120 N/A INTRINSIC
low complexity region 160 179 N/A INTRINSIC
LIM 184 237 6e-18 SMART
LIM 244 296 2.98e-13 SMART
LIM 304 365 3.32e-11 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 a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit severe osteopenia with decreased osteoblasts and increased osteoclasts. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T A 11: 50,683,548 (GRCm39) C943* probably null Het
Arhgef28 A T 13: 98,187,566 (GRCm39) V243D probably benign Het
Arrdc3 T A 13: 81,038,884 (GRCm39) I62K probably damaging Het
Atm T C 9: 53,427,863 (GRCm39) T416A probably benign Het
AW209491 A G 13: 14,812,268 (GRCm39) T374A probably damaging Het
Brcc3 T C X: 74,479,704 (GRCm39) probably benign Het
Ccdc181 T G 1: 164,107,514 (GRCm39) S66A probably benign Het
Ccdc62 T C 5: 124,092,320 (GRCm39) I435T probably benign Het
Cdc14b C A 13: 64,364,117 (GRCm39) probably benign Het
Chst5 A G 8: 112,617,477 (GRCm39) S48P probably damaging Het
Ciita C A 16: 10,326,577 (GRCm39) S253Y probably damaging Het
Dock7 C T 4: 98,877,533 (GRCm39) R1005H probably damaging Het
Dsg4 A T 18: 20,591,637 (GRCm39) I459F probably benign Het
Enpep T C 3: 129,103,506 (GRCm39) E361G probably damaging Het
Fignl1 G A 11: 11,752,756 (GRCm39) R100* probably null Het
Ggcx G T 6: 72,395,286 (GRCm39) A126S probably damaging Het
Hdgfl1 A G 13: 26,953,786 (GRCm39) S96P probably benign Het
Iqgap2 G A 13: 95,764,622 (GRCm39) L1541F probably damaging Het
Itga8 T C 2: 12,145,289 (GRCm39) E888G possibly damaging Het
Kank4 T A 4: 98,667,064 (GRCm39) Q461L probably benign Het
Klhl20 C T 1: 160,925,935 (GRCm39) V438M probably damaging Het
Klrc3 A T 6: 129,620,171 (GRCm39) S27R probably damaging Het
Ksr2 T C 5: 117,901,394 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,389,938 (GRCm39) S1829N probably benign Het
Obscn A G 11: 58,945,611 (GRCm39) L4585P probably damaging Het
Or5p57 T C 7: 107,665,978 (GRCm39) N9S probably benign Het
Palm3 T G 8: 84,755,494 (GRCm39) S335R probably damaging Het
Pcsk7 C T 9: 45,830,560 (GRCm39) A446V possibly damaging Het
Penk A G 4: 4,134,065 (GRCm39) L194P possibly damaging Het
Pkhd1l1 T C 15: 44,403,063 (GRCm39) F2255S probably damaging Het
Plcd3 G A 11: 102,968,653 (GRCm39) S31F probably damaging Het
Pou2af2 A G 9: 51,203,055 (GRCm39) L33P possibly damaging Het
Ppp6r2 C T 15: 89,159,680 (GRCm39) Q456* probably null Het
Rbbp8nl T C 2: 179,922,688 (GRCm39) D235G probably benign Het
Ror1 T A 4: 100,283,307 (GRCm39) N457K probably benign Het
Rpgrip1l C A 8: 91,951,972 (GRCm39) probably benign Het
Sdk1 T C 5: 141,595,787 (GRCm39) F148L probably benign Het
Slc45a2 A T 15: 11,023,440 (GRCm39) H348L probably benign Het
Smg8 C T 11: 86,977,498 (GRCm39) A28T probably benign Het
Snx14 A G 9: 88,285,356 (GRCm39) I436T probably damaging Het
Synj2 G A 17: 6,080,035 (GRCm39) R1088H probably damaging Het
Tubb6 T C 18: 67,535,366 (GRCm39) Y422H probably damaging Het
Unc13a T A 8: 72,108,345 (GRCm39) I503F probably benign Het
Unc13d A G 11: 115,961,382 (GRCm39) probably benign Het
Zp1 T C 19: 10,896,871 (GRCm39) probably benign Het
Other mutations in Fblim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03036:Fblim1 APN 4 141,310,435 (GRCm39) missense possibly damaging 0.65
IGL02802:Fblim1 UTSW 4 141,317,431 (GRCm39) missense possibly damaging 0.90
PIT4377001:Fblim1 UTSW 4 141,322,720 (GRCm39) missense probably damaging 1.00
R0840:Fblim1 UTSW 4 141,308,320 (GRCm39) missense possibly damaging 0.88
R1793:Fblim1 UTSW 4 141,322,549 (GRCm39) missense probably damaging 1.00
R1975:Fblim1 UTSW 4 141,312,175 (GRCm39) missense probably damaging 1.00
R4829:Fblim1 UTSW 4 141,312,020 (GRCm39) missense probably damaging 1.00
R6066:Fblim1 UTSW 4 141,305,220 (GRCm39) missense probably damaging 1.00
R6101:Fblim1 UTSW 4 141,312,033 (GRCm39) missense probably damaging 1.00
R6126:Fblim1 UTSW 4 141,312,033 (GRCm39) missense probably damaging 1.00
R6127:Fblim1 UTSW 4 141,312,033 (GRCm39) missense probably damaging 1.00
R6128:Fblim1 UTSW 4 141,312,033 (GRCm39) missense probably damaging 1.00
R7525:Fblim1 UTSW 4 141,317,391 (GRCm39) missense probably damaging 1.00
R8737:Fblim1 UTSW 4 141,310,387 (GRCm39) missense probably benign 0.36
Z1176:Fblim1 UTSW 4 141,322,682 (GRCm39) missense possibly damaging 0.74
Posted On 2015-04-16