Incidental Mutation 'R4829:Fblim1'
ID 372653
Institutional Source Beutler Lab
Gene Symbol Fblim1
Ensembl Gene ENSMUSG00000006219
Gene Name filamin binding LIM protein 1
Synonyms migfilin(s), Fblp1, migfilin, Cal, 2410043F08Rik
MMRRC Submission 042445-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4829 (G1)
Quality Score 206
Status Validated
Chromosome 4
Chromosomal Location 141303373-141333351 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141312020 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 235 (E235G)
Ref Sequence ENSEMBL: ENSMUSP00000101411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006381] [ENSMUST00000105784] [ENSMUST00000105785] [ENSMUST00000130181] [ENSMUST00000141518] [ENSMUST00000147764] [ENSMUST00000153189]
AlphaFold Q71FD7
Predicted Effect probably damaging
Transcript: ENSMUST00000006381
AA Change: E235G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006381
Gene: ENSMUSG00000006219
AA Change: E235G

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 damaging
Transcript: ENSMUST00000105784
AA Change: E235G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101410
Gene: ENSMUSG00000006219
AA Change: E235G

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 damaging
Transcript: ENSMUST00000105785
AA Change: E235G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101411
Gene: ENSMUSG00000006219
AA Change: E235G

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: ENSMUST00000130181
SMART Domains Protein: ENSMUSP00000115992
Gene: ENSMUSG00000006219

DomainStartEndE-ValueType
PDB:2K9U|B 1 24 1e-8 PDB
low complexity region 86 120 N/A INTRINSIC
low complexity region 162 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141518
SMART Domains Protein: ENSMUSP00000123669
Gene: ENSMUSG00000006219

DomainStartEndE-ValueType
PDB:2K9U|B 1 24 1e-8 PDB
low complexity region 86 120 N/A INTRINSIC
low complexity region 160 179 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147764
SMART Domains Protein: ENSMUSP00000120600
Gene: ENSMUSG00000006219

DomainStartEndE-ValueType
PDB:2K9U|B 1 24 1e-8 PDB
low complexity region 86 120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000153189
SMART Domains Protein: ENSMUSP00000123322
Gene: ENSMUSG00000006219

DomainStartEndE-ValueType
PDB:2K9U|B 1 24 1e-8 PDB
low complexity region 86 120 N/A INTRINSIC
low complexity region 162 172 N/A INTRINSIC
Meta Mutation Damage Score 0.3447 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
Validation Efficiency 98% (109/111)
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: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T C 3: 137,774,780 (GRCm39) V1323A probably damaging Het
Abcb1a T C 5: 8,773,214 (GRCm39) L814P probably damaging Het
Acat1 C A 9: 53,502,756 (GRCm39) G191V probably damaging Het
Acsbg3 A G 17: 57,190,500 (GRCm39) probably null Het
Adamts20 A T 15: 94,224,277 (GRCm39) D1184E probably benign Het
Adss1 T C 12: 112,601,147 (GRCm39) L283P probably damaging Het
Arid4a A G 12: 71,070,272 (GRCm39) probably null Het
Arid4b T A 13: 14,359,023 (GRCm39) D599E probably benign Het
AW146154 T C 7: 41,130,057 (GRCm39) K353R possibly damaging Het
Axdnd1 G T 1: 156,204,216 (GRCm39) R547S possibly damaging Het
Bcat1 A T 6: 144,961,201 (GRCm39) F134Y probably damaging Het
Camk2d C A 3: 126,573,646 (GRCm39) probably benign Het
Catsperg2 T G 7: 29,400,550 (GRCm39) K268T probably damaging Het
Ccar1 A C 10: 62,581,114 (GRCm39) F1103L unknown Het
Ccdc141 T A 2: 76,905,260 (GRCm39) E395D probably damaging Het
Cdc37l1 A G 19: 28,967,983 (GRCm39) T16A probably benign Het
Cdca2 T A 14: 67,931,202 (GRCm39) probably null Het
Cfap96 T C 8: 46,420,952 (GRCm39) I159V probably damaging Het
Cntn5 T G 9: 9,976,288 (GRCm39) K219Q probably damaging Het
Col23a1 C A 11: 51,448,413 (GRCm39) A202E unknown Het
Csmd1 G A 8: 16,177,310 (GRCm39) L1318F probably damaging Het
Csnk1g3 C T 18: 54,028,895 (GRCm39) A16V possibly damaging Het
Cspg4b A G 13: 113,504,696 (GRCm39) I1942V probably benign Het
Dab2 A G 15: 6,454,162 (GRCm39) D224G probably damaging Het
Ddr1 A T 17: 35,996,005 (GRCm39) C625S probably damaging Het
Dennd4a T C 9: 64,796,338 (GRCm39) V788A probably damaging Het
Dgcr2 T C 16: 17,660,617 (GRCm39) E402G possibly damaging Het
Dhcr7 T G 7: 143,391,654 (GRCm39) I81S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Fat1 C T 8: 45,489,199 (GRCm39) T3467I probably damaging Het
Fbxo38 T A 18: 62,651,662 (GRCm39) M548L probably benign Het
Fstl5 T C 3: 76,229,489 (GRCm39) Y97H probably damaging Het
Glb1l A T 1: 75,176,994 (GRCm39) S481T probably damaging Het
Gp2 A T 7: 119,056,407 (GRCm39) V22E possibly damaging Het
Grin1 A G 2: 25,208,736 (GRCm39) S55P possibly damaging Het
Herc2 A G 7: 55,756,240 (GRCm39) D760G probably benign Het
Hpn A G 7: 30,798,300 (GRCm39) probably benign Het
Hsf2 T C 10: 57,372,266 (GRCm39) V73A probably damaging Het
Ighv1-42 T C 12: 114,900,788 (GRCm39) Y80C probably benign Het
Ighv1-64 T C 12: 115,471,346 (GRCm39) K57R probably benign Het
Klc1 T C 12: 111,762,037 (GRCm39) I569T probably damaging Het
Klra3 T G 6: 130,300,579 (GRCm39) K263N probably benign Het
Lrcol1 C A 5: 110,502,393 (GRCm39) H90N probably benign Het
Mamdc4 T C 2: 25,455,368 (GRCm39) E921G possibly damaging Het
Mark1 G A 1: 184,637,724 (GRCm39) R622W possibly damaging Het
Mdga1 A G 17: 30,065,343 (GRCm39) S696P possibly damaging Het
Mmp1b C T 9: 7,370,729 (GRCm39) probably null Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtnr1a T C 8: 45,538,652 (GRCm39) probably benign Het
Myo5a T C 9: 75,043,689 (GRCm39) I226T probably damaging Het
Ncoa6 G T 2: 155,257,147 (GRCm39) P799T probably damaging Het
Npc1l1 C T 11: 6,164,010 (GRCm39) probably null Het
Nxph3 T C 11: 95,402,321 (GRCm39) E31G probably benign Het
Obscn T C 11: 58,945,072 (GRCm39) I4649V probably null Het
Or10d4b A T 9: 39,534,734 (GRCm39) H103L probably damaging Het
Or8b12b G T 9: 37,684,243 (GRCm39) C96F probably damaging Het
Or8g35 A T 9: 39,381,663 (GRCm39) Y120N probably damaging Het
Or8h10 G A 2: 86,808,918 (GRCm39) S74L probably damaging Het
P3h3 G A 6: 124,818,601 (GRCm39) probably benign Het
Pcnx2 A T 8: 126,587,797 (GRCm39) probably null Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Pla2g4d A G 2: 120,097,224 (GRCm39) S792P probably damaging Het
Plppr4 A T 3: 117,129,240 (GRCm39) L76M possibly damaging Het
Ppp2r3d A T 9: 101,089,709 (GRCm39) S205T possibly damaging Het
Prkdc G A 16: 15,519,939 (GRCm39) D1126N possibly damaging Het
Prrt4 G A 6: 29,177,181 (GRCm39) S196L probably benign Het
Ptpn21 A C 12: 98,655,555 (GRCm39) S471A probably damaging Het
Ptprk C A 10: 28,456,480 (GRCm39) S9* probably null Het
Rassf4 A T 6: 116,622,103 (GRCm39) I163K possibly damaging Het
Rgs22 C A 15: 36,104,034 (GRCm39) R142S probably damaging Het
Rit2 C A 18: 31,345,726 (GRCm39) L73F probably damaging Het
Rrbp1 A C 2: 143,831,607 (GRCm39) S187A probably benign Het
Rspo2 A T 15: 42,956,583 (GRCm39) Y83* probably null Het
Scn5a C T 9: 119,363,773 (GRCm39) V456M probably benign Het
Scn9a T A 2: 66,382,057 (GRCm39) H290L probably benign Het
Smarca4 T C 9: 21,550,623 (GRCm39) I452T probably damaging Het
Smc2 T A 4: 52,449,612 (GRCm39) I198K probably damaging Het
Smim14 G A 5: 65,617,946 (GRCm39) probably benign Het
Spg11 A C 2: 121,938,936 (GRCm39) N339K probably benign Het
Spta1 A G 1: 174,065,493 (GRCm39) E2014G probably benign Het
Stk4 T C 2: 163,941,747 (GRCm39) probably null Het
Sypl1 C T 12: 33,017,645 (GRCm39) T121M probably damaging Het
Tas2r120 T A 6: 132,634,331 (GRCm39) F138I probably benign Het
Tcstv4 G A 13: 120,769,926 (GRCm39) C82Y possibly damaging Het
Tet2 A C 3: 133,182,381 (GRCm39) C1194W possibly damaging Het
Tex29 T C 8: 11,905,668 (GRCm39) probably benign Het
Tnfrsf22 T A 7: 143,197,067 (GRCm39) T91S possibly damaging Het
Tnik A T 3: 28,593,690 (GRCm39) probably benign Het
Tnr A T 1: 159,685,974 (GRCm39) I402F probably benign Het
Unc93b1 A T 19: 3,994,293 (GRCm39) S475C probably damaging Het
Utrn T A 10: 12,539,205 (GRCm39) E1937D probably benign Het
Vmn1r227 A T 17: 20,955,927 (GRCm39) noncoding transcript Het
Vmn2r101 G A 17: 19,832,229 (GRCm39) V742I probably benign Het
Vmn2r81 T C 10: 79,083,635 (GRCm39) L3P possibly damaging Het
Zfp882 T G 8: 72,668,233 (GRCm39) H353Q probably damaging Het
Other mutations in Fblim1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02634:Fblim1 APN 4 141,310,422 (GRCm39) missense probably benign 0.43
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
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
Predicted Primers PCR Primer
(F):5'- GAAACTAATCCTGCTTGGTTGAG -3'
(R):5'- CAGTTGAGGAAGCCTTTGAGG -3'

Sequencing Primer
(F):5'- AACTAATCCTGCTTGGTTGAGTTTGC -3'
(R):5'- TGCACACACTGGGGGATTG -3'
Posted On 2016-03-01