Incidental Mutation 'IGL03036:Fblim1'
ID 408675
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 # IGL03036
Quality Score
Status
Chromosome 4
Chromosomal Location 141303373-141333351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 141310435 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q71FD7
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: 80,421,534 (GRCm39) Y145* probably null Het
Afdn T G 17: 14,108,350 (GRCm39) I1291S probably benign Het
Arfgap3 T G 15: 83,191,127 (GRCm39) I16L possibly damaging Het
Bbs12 T A 3: 37,373,343 (GRCm39) H45Q possibly damaging Het
Brpf3 T C 17: 29,043,022 (GRCm39) L1021P possibly damaging Het
Cep170 A G 1: 176,596,903 (GRCm39) S485P possibly damaging Het
Cgref1 A T 5: 31,090,937 (GRCm39) N292K probably damaging Het
Chst3 A T 10: 60,022,261 (GRCm39) Y195* probably null Het
Clmn T C 12: 104,740,782 (GRCm39) Y125C probably damaging Het
Col13a1 A G 10: 61,729,692 (GRCm39) probably null Het
Cpeb3 A T 19: 37,002,348 (GRCm39) I688N probably damaging Het
Cpn2 A T 16: 30,079,647 (GRCm39) L18H probably benign Het
Crybg3 T A 16: 59,375,542 (GRCm39) H1904L possibly damaging Het
Csde1 C T 3: 102,951,155 (GRCm39) P249S probably damaging Het
Dcaf1 T C 9: 106,721,339 (GRCm39) L377P probably damaging Het
Dmwd A T 7: 18,815,054 (GRCm39) K568M probably damaging Het
Dsg2 T C 18: 20,712,134 (GRCm39) I90T probably damaging Het
Dytn A G 1: 63,680,281 (GRCm39) I426T probably damaging Het
Edc4 G A 8: 106,613,943 (GRCm39) probably null Het
Elac1 G T 18: 73,871,985 (GRCm39) Q337K probably benign Het
Exd2 G T 12: 80,536,185 (GRCm39) A272S probably damaging Het
F13b A G 1: 139,435,853 (GRCm39) I220V possibly damaging Het
Fn1 A C 1: 71,668,932 (GRCm39) L671R probably damaging Het
Frem1 A T 4: 82,877,576 (GRCm39) F1334I possibly damaging Het
H2-T23 T A 17: 36,343,249 (GRCm39) I43F possibly damaging Het
Hp1bp3 G A 4: 137,956,043 (GRCm39) G202D probably damaging Het
Kdm5b A G 1: 134,536,675 (GRCm39) M632V probably damaging Het
Klra5 T A 6: 129,885,830 (GRCm39) S20C probably damaging Het
Lancl1 A T 1: 67,046,074 (GRCm39) C276S probably damaging Het
Lect2 A G 13: 56,690,520 (GRCm39) *152Q probably null Het
Maff C A 15: 79,241,658 (GRCm39) S25* probably null Het
Mtr A G 13: 12,262,263 (GRCm39) L171P probably damaging Het
Ndufs1 A T 1: 63,202,855 (GRCm39) Y236* probably null Het
Neb A C 2: 52,134,165 (GRCm39) Y3273D probably damaging Het
Nup133 A T 8: 124,673,333 (GRCm39) I66K probably benign Het
Or4c110 T C 2: 88,832,459 (GRCm39) M58V possibly damaging Het
Psmd14 A G 2: 61,614,205 (GRCm39) Y200C probably damaging Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Ptk2b T A 14: 66,411,344 (GRCm39) probably benign Het
Pum3 G A 19: 27,398,713 (GRCm39) T279M probably damaging Het
Rabl6 C T 2: 25,474,868 (GRCm39) G614D probably benign Het
Ripk3 T C 14: 56,024,796 (GRCm39) D128G probably benign Het
Serinc4 A T 2: 121,270,039 (GRCm39) probably benign Het
Slco1a8 T G 6: 141,954,333 (GRCm39) I47L possibly damaging Het
Sorbs2 T C 8: 46,235,902 (GRCm39) S322P probably benign Het
Spmap2l A C 5: 77,164,197 (GRCm39) K67Q possibly damaging Het
Srebf1 A T 11: 60,111,284 (GRCm39) I29N possibly damaging Het
Stk38l T C 6: 146,670,372 (GRCm39) L238S probably damaging Het
Supt20 T A 3: 54,616,723 (GRCm39) C298* probably null Het
Tbc1d19 A G 5: 54,054,389 (GRCm39) D459G probably damaging Het
Ulk2 A T 11: 61,725,660 (GRCm39) L139M probably damaging Het
Unc13b A G 4: 43,235,249 (GRCm39) N3279S probably damaging Het
Ush2a A G 1: 188,596,818 (GRCm39) R3853G possibly damaging Het
Usp7 C T 16: 8,556,078 (GRCm39) M24I probably benign Het
Vil1 A G 1: 74,458,771 (GRCm39) T131A probably damaging Het
Vmn2r2 C T 3: 64,024,321 (GRCm39) M753I probably benign Het
Vmn2r74 A T 7: 85,601,900 (GRCm39) Y579* probably null Het
Zdhhc3 A T 9: 122,929,582 (GRCm39) Y18N probably damaging Het
Zfp609 C T 9: 65,609,927 (GRCm39) S1012N possibly damaging Het
Zfr2 A T 10: 81,077,985 (GRCm39) M271L probably benign Het
Other mutations in Fblim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02634:Fblim1 APN 4 141,310,422 (GRCm39) missense probably benign 0.43
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 2016-08-02