Mutagenetix > Incidental Mutation

Incidental Mutation 'R6126:Fblim1'

487386

Institutional Source

Beutler Lab

Gene Symbol

Fblim1

Ensembl Gene

ENSMUSG00000006219

Gene Name

filamin binding LIM protein 1

Synonyms

MMRRC Submission

044273-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6126 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141576062-141606096 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 141584722 bp (GRCm38)

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: 99.7%
10x: 98.5%
20x: 95.8%

Validation Efficiency

93% (51/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	G	A	3: 90,056,574 (GRCm38)	R111H	probably damaging	Het
Alk	G	A	17: 71,875,042 (GRCm38)	L1329F	possibly damaging	Het
Apoh	A	T	11: 108,397,373 (GRCm38)	I106F	probably damaging	Het
Atp8a2	C	T	14: 60,044,326 (GRCm38)	M126I	probably benign	Het
Cactin	G	A	10: 81,324,309 (GRCm38)	R412H	possibly damaging	Het
Chd7	T	C	4: 8,826,482 (GRCm38)	S949P	probably damaging	Het
Clec11a	C	T	7: 44,304,921 (GRCm38)	A203T	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038 (GRCm38)		probably null	Het
Dst	T	A	1: 34,228,183 (GRCm38)	I5080K	probably damaging	Het
Ecd	T	C	14: 20,338,425 (GRCm38)		probably null	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Fan1	T	A	7: 64,364,570 (GRCm38)	K638*	probably null	Het
Fig4	A	G	10: 41,265,447 (GRCm38)	I272T	probably damaging	Het
Foxd2	C	A	4: 114,908,505 (GRCm38)	G106V	unknown	Het
Ggcx	A	T	6: 72,417,983 (GRCm38)	M115L	possibly damaging	Het
Gm21976	G	A	13: 98,287,313 (GRCm38)	R72H	unknown	Het
Gm906	G	T	13: 50,246,290 (GRCm38)	Q667K	probably benign	Het
Hsf2	T	C	10: 57,495,917 (GRCm38)	V38A	probably damaging	Het
Ifi208	A	G	1: 173,677,708 (GRCm38)	Y8C	possibly damaging	Het
Il31ra	A	C	13: 112,530,374 (GRCm38)	L390R	probably damaging	Het
Kif1a	A	T	1: 93,019,899 (GRCm38)	Y1614N	probably damaging	Het
Mef2b	C	A	8: 70,166,876 (GRCm38)	T267K	probably benign	Het
Mfsd8	A	G	3: 40,832,011 (GRCm38)		probably null	Het
Mnx1	G	T	5: 29,478,112 (GRCm38)	A55E	possibly damaging	Het
Muc5ac	A	T	7: 141,801,232 (GRCm38)	I949F	possibly damaging	Het
Muc6	G	T	7: 141,638,772 (GRCm38)	T1996N	possibly damaging	Het
Ntpcr	G	A	8: 125,735,887 (GRCm38)		probably null	Het
Olfr530	T	G	7: 140,373,253 (GRCm38)	Y119S	probably damaging	Het
Otx1	T	C	11: 21,996,457 (GRCm38)		probably benign	Het
Panx1	T	A	9: 15,007,790 (GRCm38)	I258F	probably benign	Het
Pask	T	C	1: 93,314,359 (GRCm38)	Y1212C	probably damaging	Het
Pdgfra	A	G	5: 75,170,529 (GRCm38)	K265R	probably benign	Het
Phf20l1	A	G	15: 66,636,824 (GRCm38)	H844R	probably benign	Het
Ppp6r1	T	C	7: 4,643,377 (GRCm38)	T136A	possibly damaging	Het
Rab35	A	G	5: 115,645,708 (GRCm38)	N185D	probably benign	Het
Rdh1	A	T	10: 127,763,214 (GRCm38)	D188V	probably damaging	Het
Rimbp3	A	T	16: 17,212,276 (GRCm38)	D1188V	probably benign	Het
Robo2	C	T	16: 73,920,682 (GRCm38)	G100S	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904 (GRCm38)		probably benign	Het
Ryr1	A	C	7: 29,076,239 (GRCm38)	D2282E	probably null	Het
Ryr3	A	G	2: 112,757,670 (GRCm38)	L2642P	probably damaging	Het
Sez6	A	T	11: 77,973,804 (GRCm38)	Y530F	probably damaging	Het
Slc12a2	A	G	18: 57,944,044 (GRCm38)	Y1205C	possibly damaging	Het
Slc4a5	A	T	6: 83,226,265 (GRCm38)	H49L	probably benign	Het
Smchd1	A	T	17: 71,370,285 (GRCm38)	V1503D	probably damaging	Het
Srsf11	C	T	3: 158,023,344 (GRCm38)		probably benign	Het
Tex15	A	G	8: 33,573,563 (GRCm38)	N1007S	probably benign	Het
Tpk1	A	T	6: 43,423,660 (GRCm38)	C143S	probably damaging	Het
Wdr20	A	T	12: 110,794,102 (GRCm38)	H474L	probably benign	Het
Wnk4	A	G	11: 101,276,348 (GRCm38)		probably benign	Het
Zfp292	T	C	4: 34,808,497 (GRCm38)	T1516A	probably benign	Het
Zfp462	G	A	4: 55,023,573 (GRCm38)	A2121T	probably benign	Het
Zfp647	G	A	15: 76,912,085 (GRCm38)	P125L	probably damaging	Het

Other mutations in Fblim1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02634:Fblim1	APN	4	141,583,111 (GRCm38)	missense	probably benign	0.43
IGL03036:Fblim1	APN	4	141,583,124 (GRCm38)	missense	possibly damaging	0.65
IGL02802:Fblim1	UTSW	4	141,590,120 (GRCm38)	missense	possibly damaging	0.90
PIT4377001:Fblim1	UTSW	4	141,595,409 (GRCm38)	missense	probably damaging	1.00
R0840:Fblim1	UTSW	4	141,581,009 (GRCm38)	missense	possibly damaging	0.88
R1793:Fblim1	UTSW	4	141,595,238 (GRCm38)	missense	probably damaging	1.00
R1975:Fblim1	UTSW	4	141,584,864 (GRCm38)	missense	probably damaging	1.00
R4829:Fblim1	UTSW	4	141,584,709 (GRCm38)	missense	probably damaging	1.00
R6066:Fblim1	UTSW	4	141,577,909 (GRCm38)	missense	probably damaging	1.00
R6101:Fblim1	UTSW	4	141,584,722 (GRCm38)	missense	probably damaging	1.00
R6127:Fblim1	UTSW	4	141,584,722 (GRCm38)	missense	probably damaging	1.00
R6128:Fblim1	UTSW	4	141,584,722 (GRCm38)	missense	probably damaging	1.00
R7525:Fblim1	UTSW	4	141,590,080 (GRCm38)	missense	probably damaging	1.00
R8737:Fblim1	UTSW	4	141,583,076 (GRCm38)	missense	probably benign	0.36
Z1176:Fblim1	UTSW	4	141,595,371 (GRCm38)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GAAACTAATCCTGCTTGGTTGAG -3'
(R):5'- TCAGTTGAGGAAGCCTTTGAGG -3'

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

Posted On

2017-10-10