Mutagenetix > Incidental Mutation

Incidental Mutation 'R6127:Fblim1'

487437

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

044274-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141303373-141333351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141312033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 231 (R231C)

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: R231C

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

SMART Domains

Protein: ENSMUSP00000006381
Gene: ENSMUSG00000006219
AA Change: R231C

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: R231C

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

SMART Domains

Protein: ENSMUSP00000101410
Gene: ENSMUSG00000006219
AA Change: R231C

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: R231C

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

SMART Domains

Protein: ENSMUSP00000101411
Gene: ENSMUSG00000006219
AA Change: R231C

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (49/50)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	A	G	2: 154,391,509 (GRCm39)	E92G	probably damaging	Het
4931429L15Rik	T	A	9: 46,220,220 (GRCm39)	D104V	probably damaging	Het
Actl9	T	C	17: 33,652,354 (GRCm39)	V138A	probably benign	Het
Agl	T	A	3: 116,551,978 (GRCm39)	I1204F	probably damaging	Het
Akna	G	T	4: 63,286,356 (GRCm39)	T1381N	possibly damaging	Het
Atm	A	C	9: 53,435,809 (GRCm39)	L167W	probably damaging	Het
Atp2b2	C	T	6: 113,790,838 (GRCm39)	E189K	probably damaging	Het
Bend7	A	G	2: 4,768,088 (GRCm39)	D348G	probably damaging	Het
Cactin	G	A	10: 81,160,143 (GRCm39)	R412H	possibly damaging	Het
Carmil1	T	C	13: 24,220,335 (GRCm39)	T726A	probably benign	Het
Csmd3	T	A	15: 47,513,624 (GRCm39)	I2829F	probably damaging	Het
Ddx50	A	T	10: 62,457,342 (GRCm39)		probably null	Het
Epha5	T	G	5: 84,218,953 (GRCm39)	K937N	probably damaging	Het
Fuca1	T	A	4: 135,662,122 (GRCm39)	I350N	probably damaging	Het
Hagh	G	T	17: 25,079,978 (GRCm39)	M152I	probably damaging	Het
Hexd	T	C	11: 121,107,825 (GRCm39)	V185A	possibly damaging	Het
Ireb2	A	G	9: 54,789,652 (GRCm39)	T109A	probably benign	Het
Kcnh2	A	G	5: 24,530,001 (GRCm39)	Y702H	probably damaging	Het
Leng1	G	A	7: 3,665,866 (GRCm39)	P157L	probably damaging	Het
Maea	C	T	5: 33,492,862 (GRCm39)		probably benign	Het
Mertk	G	T	2: 128,580,211 (GRCm39)	V222F	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Muc13	G	A	16: 33,619,317 (GRCm39)	A22T	unknown	Het
Muc16	T	A	9: 18,569,174 (GRCm39)	H1115L	unknown	Het
Or2y1d	C	A	11: 49,321,633 (GRCm39)	T110K	probably damaging	Het
Or5ae2	T	A	7: 84,506,410 (GRCm39)	L278M	probably damaging	Het
Or5l13	T	A	2: 87,779,705 (GRCm39)	S291C	probably damaging	Het
Or6c69	A	G	10: 129,747,284 (GRCm39)	Y288H	probably damaging	Het
Pak5	G	A	2: 135,929,326 (GRCm39)	P619L	probably damaging	Het
Pcdh17	A	G	14: 84,770,500 (GRCm39)	K993E	probably damaging	Het
Pcdhga3	A	T	18: 37,807,757 (GRCm39)	Q70L	probably damaging	Het
Pcdhgb5	C	A	18: 37,865,932 (GRCm39)	R576S	probably damaging	Het
Pold1	T	C	7: 44,191,545 (GRCm39)	Y147C	probably damaging	Het
Prag1	T	C	8: 36,614,555 (GRCm39)	L1369P	unknown	Het
Psg29	T	A	7: 16,945,671 (GRCm39)	F414I	probably benign	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rp1	C	A	1: 4,419,534 (GRCm39)	S526I	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setd7	G	A	3: 51,437,502 (GRCm39)	T251I	probably damaging	Het
Slc25a41	T	A	17: 57,341,914 (GRCm39)	Y145F	probably damaging	Het
Stag1	T	C	9: 100,833,750 (GRCm39)	V1121A	probably benign	Het
Svip	T	C	7: 51,653,201 (GRCm39)	T38A	probably benign	Het
Tacc2	A	T	7: 130,227,845 (GRCm39)	H1510L	possibly damaging	Het
Trav19	A	G	14: 54,082,999 (GRCm39)	T25A	probably benign	Het
Trip4	A	T	9: 65,773,752 (GRCm39)		probably null	Het
Tulp1	T	A	17: 28,575,124 (GRCm39)	H447L	probably benign	Het
Vmn1r200	A	T	13: 22,579,373 (GRCm39)	T59S	probably benign	Het
Vmn2r51	A	T	7: 9,839,558 (GRCm39)	L10H	probably damaging	Het
Wee2	T	C	6: 40,426,701 (GRCm39)	Y157H	probably damaging	Het
Xrn1	T	C	9: 95,851,542 (GRCm39)	S187P	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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
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'- CAGAAACTAATCCTGCTTGGTTGAG -3'
(R):5'- AGTTGAGGAAGCCTTTGAGG -3'

Sequencing Primer
(F):5'- AACTAATCCTGCTTGGTTGAGTTTGC -3'
(R):5'- TGCACACACTGGGGGATTG -3'

Posted On

2017-10-10