Incidental Mutation 'IGL03036:Fblim1'
ID408675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fblim1
Ensembl Gene ENSMUSG00000006219
Gene Namefilamin binding LIM protein 1
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03036
Quality Score
Status
Chromosome4
Chromosomal Location141576062-141606096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 141583124 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 276 (R276S)
Ref Sequence ENSEMBL: ENSMUSP00000101411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006381] [ENSMUST00000105784] [ENSMUST00000105785]
Predicted Effect possibly damaging
Transcript: ENSMUST00000006381
AA Change: R276S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000006381
Gene: ENSMUSG00000006219
AA Change: R276S

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 possibly damaging
Transcript: ENSMUST00000105784
AA Change: R276S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101410
Gene: ENSMUSG00000006219
AA Change: R276S

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 possibly damaging
Transcript: ENSMUST00000105785
AA Change: R276S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000101411
Gene: ENSMUSG00000006219
AA Change: R276S

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17a A T 10: 80,585,700 Y145* probably null Het
Afdn T G 17: 13,888,088 I1291S probably benign Het
Arfgap3 T G 15: 83,306,926 I16L possibly damaging Het
Bbs12 T A 3: 37,319,194 H45Q possibly damaging Het
Brpf3 T C 17: 28,824,048 L1021P possibly damaging Het
Cep170 A G 1: 176,769,337 S485P possibly damaging Het
Cgref1 A T 5: 30,933,593 N292K probably damaging Het
Chst3 A T 10: 60,186,439 Y195* probably null Het
Clmn T C 12: 104,774,523 Y125C probably damaging Het
Col13a1 A G 10: 61,893,913 probably null Het
Cpeb3 A T 19: 37,024,948 I688N probably damaging Het
Cpn2 A T 16: 30,260,829 L18H probably benign Het
Crybg3 T A 16: 59,555,179 H1904L possibly damaging Het
Csde1 C T 3: 103,043,839 P249S probably damaging Het
Dcaf1 T C 9: 106,844,140 L377P probably damaging Het
Dmwd A T 7: 19,081,129 K568M probably damaging Het
Dsg2 T C 18: 20,579,077 I90T probably damaging Het
Dytn A G 1: 63,641,122 I426T probably damaging Het
Edc4 G A 8: 105,887,311 probably null Het
Elac1 G T 18: 73,738,914 Q337K probably benign Het
Exd2 G T 12: 80,489,411 A272S probably damaging Het
F13b A G 1: 139,508,115 I220V possibly damaging Het
Fn1 A C 1: 71,629,773 L671R probably damaging Het
Frem1 A T 4: 82,959,339 F1334I possibly damaging Het
Gm6614 T G 6: 142,008,607 I47L possibly damaging Het
H2-T23 T A 17: 36,032,357 I43F possibly damaging Het
Hp1bp3 G A 4: 138,228,732 G202D probably damaging Het
Kdm5b A G 1: 134,608,937 M632V probably damaging Het
Klra5 T A 6: 129,908,867 S20C probably damaging Het
Lancl1 A T 1: 67,006,915 C276S probably damaging Het
Lect2 A G 13: 56,542,707 *152Q probably null Het
Maff C A 15: 79,357,458 S25* probably null Het
Mtr A G 13: 12,247,377 L171P probably damaging Het
Ndufs1 A T 1: 63,163,696 Y236* probably null Het
Neb A C 2: 52,244,153 Y3273D probably damaging Het
Nup133 A T 8: 123,946,594 I66K probably benign Het
Olfr1215 T C 2: 89,002,115 M58V possibly damaging Het
Psmd14 A G 2: 61,783,861 Y200C probably damaging Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Ptk2b T A 14: 66,173,895 probably benign Het
Pum3 G A 19: 27,421,313 T279M probably damaging Het
Rabl6 C T 2: 25,584,856 G614D probably benign Het
Ripk3 T C 14: 55,787,339 D128G probably benign Het
Serinc4 A T 2: 121,439,558 probably benign Het
Sorbs2 T C 8: 45,782,865 S322P probably benign Het
Srebf1 A T 11: 60,220,458 I29N possibly damaging Het
Stk38l T C 6: 146,768,874 L238S probably damaging Het
Supt20 T A 3: 54,709,302 C298* probably null Het
Tbc1d19 A G 5: 53,897,047 D459G probably damaging Het
Thegl A C 5: 77,016,350 K67Q possibly damaging Het
Ulk2 A T 11: 61,834,834 L139M probably damaging Het
Unc13b A G 4: 43,235,249 N3279S probably damaging Het
Ush2a A G 1: 188,864,621 R3853G possibly damaging Het
Usp7 C T 16: 8,738,214 M24I probably benign Het
Vil1 A G 1: 74,419,612 T131A probably damaging Het
Vmn2r2 C T 3: 64,116,900 M753I probably benign Het
Vmn2r74 A T 7: 85,952,692 Y579* probably null Het
Zdhhc3 A T 9: 123,100,517 Y18N probably damaging Het
Zfp609 C T 9: 65,702,645 S1012N possibly damaging Het
Zfr2 A T 10: 81,242,151 M271L probably benign Het
Other mutations in Fblim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02634:Fblim1 APN 4 141583111 missense probably benign 0.43
IGL02802:Fblim1 UTSW 4 141590120 missense possibly damaging 0.90
PIT4377001:Fblim1 UTSW 4 141595409 missense probably damaging 1.00
R0840:Fblim1 UTSW 4 141581009 missense possibly damaging 0.88
R1793:Fblim1 UTSW 4 141595238 missense probably damaging 1.00
R1975:Fblim1 UTSW 4 141584864 missense probably damaging 1.00
R4829:Fblim1 UTSW 4 141584709 missense probably damaging 1.00
R6066:Fblim1 UTSW 4 141577909 missense probably damaging 1.00
R6101:Fblim1 UTSW 4 141584722 missense probably damaging 1.00
R6126:Fblim1 UTSW 4 141584722 missense probably damaging 1.00
R6127:Fblim1 UTSW 4 141584722 missense probably damaging 1.00
R6128:Fblim1 UTSW 4 141584722 missense probably damaging 1.00
R7525:Fblim1 UTSW 4 141590080 missense probably damaging 1.00
Z1176:Fblim1 UTSW 4 141595371 missense possibly damaging 0.74
Posted On2016-08-02