Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02802:Fblim1'

392080

Institutional Source

Beutler Lab

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 #

IGL02802 (G1)

Quality Score

168

Status

Validated

Chromosome

Chromosomal Location

141303373-141333351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 141317431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 85 (S85P)

Ref Sequence

ENSEMBL: ENSMUSP00000123322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006381] [ENSMUST00000105784] [ENSMUST00000105785] [ENSMUST00000127455] [ENSMUST00000129602] [ENSMUST00000130181] [ENSMUST00000131317] [ENSMUST00000141518] [ENSMUST00000147764] [ENSMUST00000147785] [ENSMUST00000153189]

AlphaFold

Q71FD7

Predicted Effect

probably benign
Transcript: ENSMUST00000006381
AA Change: S85P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000006381
Gene: ENSMUSG00000006219
AA Change: S85P

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: ENSMUST00000105784
AA Change: S85P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101410
Gene: ENSMUSG00000006219
AA Change: S85P

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: ENSMUST00000105785
AA Change: S85P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101411
Gene: ENSMUSG00000006219
AA Change: S85P

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

unknown
Transcript: ENSMUST00000127455
AA Change: S85P

SMART Domains

Protein: ENSMUSP00000120028
Gene: ENSMUSG00000006219
AA Change: S85P

Domain	Start	End	E-Value	Type
PDB:2K9U\|B	1	24	3e-9	PDB
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000129602
AA Change: S85P

SMART Domains

Protein: ENSMUSP00000118647
Gene: ENSMUSG00000006219
AA Change: S85P

Domain	Start	End	E-Value	Type
PDB:2K9U\|B	1	24	3e-9	PDB
low complexity region	85	102	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130181
AA Change: S85P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115992
Gene: ENSMUSG00000006219
AA Change: S85P

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: ENSMUST00000131317
AA Change: S85P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000116395
Gene: ENSMUSG00000006219
AA Change: S85P

Domain	Start	End	E-Value	Type
PDB:2K9U\|B	1	24	3e-9	PDB

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141518
AA Change: S85P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123669
Gene: ENSMUSG00000006219
AA Change: S85P

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
AA Change: S85P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000120600
Gene: ENSMUSG00000006219
AA Change: S85P

Domain	Start	End	E-Value	Type
PDB:2K9U\|B	1	24	1e-8	PDB
low complexity region	86	120	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000147785
AA Change: S85P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114313
Gene: ENSMUSG00000006219
AA Change: S85P

Domain	Start	End	E-Value	Type
PDB:2K9U\|B	1	24	5e-9	PDB
low complexity region	86	120	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153189
AA Change: S85P

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123322
Gene: ENSMUSG00000006219
AA Change: S85P

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

noncoding transcript
Transcript: ENSMUST00000137491

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (63/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	C	1: 130,671,130 (GRCm39)	T451P	probably benign	Het
Actbl2	A	G	13: 111,392,310 (GRCm39)	E215G	probably damaging	Het
Adh6b	A	G	3: 138,058,545 (GRCm39)	T198A	possibly damaging	Het
Bicd2	A	G	13: 49,531,804 (GRCm39)	K349E	probably damaging	Het
Bsnd	T	A	4: 106,349,231 (GRCm39)	D3V	probably damaging	Het
Cd83	T	A	13: 43,953,147 (GRCm39)	L142Q	probably null	Het
Cdh20	A	G	1: 110,065,655 (GRCm39)	E643G	probably damaging	Het
Ces1b	T	G	8: 93,783,594 (GRCm39)	E542A	possibly damaging	Het
Cfhr2	A	G	1: 139,738,762 (GRCm39)		probably benign	Het
Clip1	T	C	5: 123,769,186 (GRCm39)	D471G	probably damaging	Het
Cntn5	C	A	9: 10,048,683 (GRCm39)		probably null	Het
Cntnap2	A	T	6: 46,147,179 (GRCm39)	D475V	probably damaging	Het
Cntnap5c	T	C	17: 58,612,679 (GRCm39)	F906S	probably benign	Het
Cobll1	A	T	2: 64,928,663 (GRCm39)	S888T	probably damaging	Het
Csf2rb	G	A	15: 78,223,103 (GRCm39)	R105Q	probably benign	Het
Ctnnd1	C	A	2: 84,454,806 (GRCm39)	M1I	probably null	Het
Cxxc1	C	T	18: 74,352,481 (GRCm39)	Q354*	probably null	Het
Dnhd1	A	G	7: 105,304,930 (GRCm39)	D324G	possibly damaging	Het
Donson	T	C	16: 91,478,196 (GRCm39)	D435G	possibly damaging	Het
Ephb1	T	C	9: 101,887,218 (GRCm39)	K474E	possibly damaging	Het
Erbin	A	G	13: 104,004,638 (GRCm39)	L130P	probably damaging	Het
Fam221a	C	T	6: 49,355,411 (GRCm39)	T171I	probably damaging	Het
Farp2	A	G	1: 93,456,332 (GRCm39)	E5G	probably damaging	Het
Fhl2	A	T	1: 43,162,761 (GRCm39)	C251*	probably null	Het
Glis2	T	C	16: 4,429,735 (GRCm39)		probably null	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,031,999 (GRCm39)	P127S	probably benign	Het
Heatr6	T	C	11: 83,651,762 (GRCm39)	L246P	probably damaging	Het
Igkv5-39	G	A	6: 69,877,457 (GRCm39)	P100S	probably benign	Het
Jup	T	C	11: 100,269,204 (GRCm39)	D403G	probably benign	Het
Kank1	T	C	19: 25,388,963 (GRCm39)	Y879H	probably damaging	Het
Kcna3	G	A	3: 106,944,369 (GRCm39)	E211K	probably damaging	Het
Klc3	A	T	7: 19,129,049 (GRCm39)	I440N	possibly damaging	Het
Mmp1b	T	C	9: 7,384,709 (GRCm39)	T280A	probably benign	Het
Nat3	A	T	8: 68,000,160 (GRCm39)	Q13L	probably benign	Het
Nckap1l	A	G	15: 103,372,963 (GRCm39)	N272S	probably benign	Het
Nrn1	C	A	13: 36,914,080 (GRCm39)		probably null	Het
Nsd3	T	C	8: 26,130,922 (GRCm39)	S96P	probably damaging	Het
Ntaq1	A	G	15: 58,011,833 (GRCm39)	S65G	probably benign	Het
Nudt16l1	C	T	16: 4,757,131 (GRCm39)	R43C	probably damaging	Het
Obscn	T	A	11: 58,891,310 (GRCm39)	Q7074L	unknown	Het
Or4p20	A	G	2: 88,253,832 (GRCm39)	V179A	probably benign	Het
Or5m12	A	G	2: 85,734,733 (GRCm39)	S222P	probably damaging	Het
Or5p78	A	T	7: 108,211,669 (GRCm39)	I52F	probably damaging	Het
Or6c206	T	A	10: 129,097,136 (GRCm39)		probably null	Het
Or8b37	T	G	9: 37,959,345 (GRCm39)	Y276D	probably damaging	Het
Or8k30	T	A	2: 86,339,290 (GRCm39)	N162K	probably benign	Het
P4htm	C	T	9: 108,460,055 (GRCm39)	D240N	probably benign	Het
Plekhm2	A	T	4: 141,369,835 (GRCm39)		probably benign	Het
Plppr5	T	C	3: 117,456,228 (GRCm39)	S250P	probably damaging	Het
Pmis2	T	C	7: 30,370,919 (GRCm39)	K12E	probably benign	Het
Ppox	A	T	1: 171,105,066 (GRCm39)	L374*	probably null	Het
Rcc1	C	T	4: 132,065,067 (GRCm39)	R139H	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Tdo2	A	G	3: 81,883,004 (GRCm39)		probably benign	Het
Tent2	A	T	13: 93,285,449 (GRCm39)	N436K	probably damaging	Het
Thbs2	A	G	17: 14,904,389 (GRCm39)	I326T	probably benign	Het
Thrap3	T	C	4: 126,059,157 (GRCm39)		probably benign	Het
Ttc6	A	T	12: 57,622,654 (GRCm39)	M18L	probably benign	Het
Ttn	C	T	2: 76,604,924 (GRCm39)	V18337I	probably damaging	Het
Txndc2	A	G	17: 65,946,601 (GRCm39)	S34P	possibly damaging	Het
Vps72	T	A	3: 95,026,545 (GRCm39)	C163*	probably null	Het
Zfp831	T	A	2: 174,486,945 (GRCm39)	I540N	possibly damaging	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
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

Predicted Primers

PCR Primer
(F):5'- CTGGGGACACTCAAAGTTTACC -3'
(R):5'- CTGACAAGAGCCATAGGGTTTG -3'

Sequencing Primer
(F):5'- GGACACTCAAAGTTTACCTGTGGC -3'
(R):5'- GGTTTGAGGCTCACTTTCCAAAGAAG -3'

Posted On

2016-06-09