Mutagenetix > Incidental Mutation

Incidental Mutation 'R1975:Fblim1'

221541

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

039988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1975 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

141303373-141333351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141312175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 183 (D183E)

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: D183E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006381
Gene: ENSMUSG00000006219
AA Change: D183E

Domain	Start	End	E-Value	Type
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: D183E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101410
Gene: ENSMUSG00000006219
AA Change: D183E

Domain	Start	End	E-Value	Type
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: D183E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101411
Gene: ENSMUSG00000006219
AA Change: D183E

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

96% (71/74)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad12	T	C	5: 121,742,322 (GRCm39)	T429A	probably benign	Het
Afmid	A	C	11: 117,727,300 (GRCm39)	I275L	probably benign	Het
Aimp1	A	C	3: 132,382,860 (GRCm39)	D5E	possibly damaging	Het
Aldob	G	A	4: 49,538,171 (GRCm39)	A319V	probably benign	Het
Ankar	C	T	1: 72,697,600 (GRCm39)	V1068I	possibly damaging	Het
Ccr2	C	T	9: 123,906,830 (GRCm39)	S370L	probably benign	Het
Chrnb4	A	G	9: 54,942,102 (GRCm39)	Y391H	probably damaging	Het
Clip1	A	G	5: 123,761,281 (GRCm39)	M873T	possibly damaging	Het
Cspg4	G	C	9: 56,797,762 (GRCm39)	G1409R	probably damaging	Het
Dnah17	A	T	11: 117,987,362 (GRCm39)	L1320*	probably null	Het
Dock4	T	C	12: 40,829,641 (GRCm39)		probably benign	Het
Eml4	T	C	17: 83,717,622 (GRCm39)	S65P	probably benign	Het
Foxn1	T	C	11: 78,256,763 (GRCm39)		probably benign	Het
Gm973	A	T	1: 59,601,930 (GRCm39)	T515S	possibly damaging	Het
Hdac7	G	A	15: 97,704,386 (GRCm39)	Q495*	probably null	Het
Hipk3	T	C	2: 104,301,518 (GRCm39)	I225V	probably benign	Het
Hrc	A	T	7: 44,985,638 (GRCm39)	D263V	probably damaging	Het
Hs6st3	T	C	14: 119,375,888 (GRCm39)	I21T	probably benign	Het
Il15ra	A	G	2: 11,728,334 (GRCm39)	T133A	possibly damaging	Het
Krt78	T	C	15: 101,854,603 (GRCm39)	*1069W	probably null	Het
Lama3	T	A	18: 12,586,920 (GRCm39)	M761K	probably damaging	Het
Lonp1	T	C	17: 56,922,068 (GRCm39)	T771A	possibly damaging	Het
Macf1	T	C	4: 123,383,005 (GRCm39)	T1320A	probably damaging	Het
Mark3	A	T	12: 111,581,875 (GRCm39)	I115L	probably damaging	Het
Mcph1	T	G	8: 18,739,081 (GRCm39)		probably benign	Het
Med23	T	A	10: 24,786,664 (GRCm39)	N923K	probably benign	Het
Msrb2	T	G	2: 19,398,032 (GRCm39)	Y97D	probably damaging	Het
Muc6	C	T	7: 141,234,368 (GRCm39)	G708S	probably damaging	Het
Mylk	T	C	16: 34,700,673 (GRCm39)		probably null	Het
Nfrkb	T	A	9: 31,325,980 (GRCm39)	V1141E	possibly damaging	Het
Obscn	T	C	11: 58,958,555 (GRCm39)	E3675G	probably damaging	Het
Or11h7	T	A	14: 50,890,821 (GRCm39)	N42K	probably damaging	Het
Or2l5	G	A	16: 19,333,586 (GRCm39)	P267S	probably damaging	Het
Or2t6	A	T	14: 14,175,446 (GRCm38)	V212E	probably damaging	Het
Or51aa2	A	T	7: 103,188,201 (GRCm39)	F80Y	probably damaging	Het
Or52z14	A	G	7: 103,253,219 (GRCm39)		probably null	Het
Or5ac21	T	C	16: 59,124,091 (GRCm39)	S193P	probably damaging	Het
Or8k21	C	G	2: 86,145,498 (GRCm39)	G44A	probably damaging	Het
Pan2	T	C	10: 128,156,282 (GRCm39)	V1171A	probably damaging	Het
Pdgfc	C	T	3: 81,116,552 (GRCm39)	T302I	probably damaging	Het
Pkhd1l1	G	T	15: 44,393,109 (GRCm39)	V1815F	probably damaging	Het
Pnpt1	A	G	11: 29,091,256 (GRCm39)	I337V	probably benign	Het
Psma8	T	G	18: 14,864,033 (GRCm39)		probably null	Het
Rbl2	T	C	8: 91,812,090 (GRCm39)	S220P	probably benign	Het
Rere	T	A	4: 150,700,190 (GRCm39)	D1091E	probably damaging	Het
Rpa1	A	G	11: 75,197,002 (GRCm39)	C540R	probably damaging	Het
Sema3d	T	A	5: 12,613,285 (GRCm39)	V454E	probably damaging	Het
Sema3d	T	C	5: 12,634,965 (GRCm39)	V677A	probably benign	Het
Sgk2	A	G	2: 162,846,080 (GRCm39)	N207S	probably benign	Het
Sirpb1a	T	C	3: 15,444,141 (GRCm39)	I370V	probably benign	Het
Slc22a19	A	G	19: 7,661,224 (GRCm39)		probably benign	Het
Slc26a1	T	A	5: 108,820,338 (GRCm39)	D287V	probably damaging	Het
Slc36a4	T	A	9: 15,645,506 (GRCm39)	V311D	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Slco2a1	T	A	9: 102,956,653 (GRCm39)	Y488*	probably null	Het
Stab2	A	C	10: 86,732,360 (GRCm39)		probably null	Het
Strn	T	C	17: 78,999,928 (GRCm39)		probably null	Het
Tbxas1	A	G	6: 38,925,575 (GRCm39)		probably benign	Het
Thumpd3	A	G	6: 113,032,838 (GRCm39)	N192S	possibly damaging	Het
Tns3	T	A	11: 8,385,738 (GRCm39)	I1386F	probably benign	Het
Treml4	T	A	17: 48,579,821 (GRCm39)	V219E	probably damaging	Het
Triobp	T	C	15: 78,850,908 (GRCm39)	V354A	probably benign	Het
Tspan8	A	G	10: 115,680,035 (GRCm39)	I217V	probably benign	Het
Tub	G	A	7: 108,627,042 (GRCm39)	G314R	possibly damaging	Het
Ube3b	C	T	5: 114,537,926 (GRCm39)	T339M	possibly damaging	Het
Vmn2r43	A	G	7: 8,258,550 (GRCm39)	I221T	possibly damaging	Het
Vmn2r5	C	T	3: 64,411,642 (GRCm39)	E309K	probably damaging	Het
Zfp110	C	T	7: 12,582,429 (GRCm39)	T359I	probably benign	Het
Zfp322a	A	T	13: 23,541,074 (GRCm39)	C223S	probably damaging	Het
Zfp512b	G	A	2: 181,228,878 (GRCm39)	R696*	probably null	Het

Other mutations in Fblim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAGCTCAGTCAGTGCAAC -3'
(R):5'- TGAAGGCCAACTCTGCTTTC -3'

Sequencing Primer
(F):5'- GCTACATGCAGGGGAGTACC -3'
(R):5'- GAAGGCCAACTCTGCTTTCTTTTC -3'

Posted On

2014-08-25