Mutagenetix > Incidental Mutation

Incidental Mutation 'R1793:Fblim1'

201914

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

039823-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1793 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

141303373-141333351 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141322549 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 78 (Q78R)

Ref Sequence

ENSEMBL: ENSMUSP00000116395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006381] [ENSMUST00000105784] [ENSMUST00000105785] [ENSMUST00000123150] [ENSMUST00000127455] [ENSMUST00000129602] [ENSMUST00000130181] [ENSMUST00000153189] [ENSMUST00000141518] [ENSMUST00000147764] [ENSMUST00000131317] [ENSMUST00000147785] [ENSMUST00000133874] [ENSMUST00000136831]

AlphaFold

Q71FD7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006381
AA Change: Q78R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000006381
Gene: ENSMUSG00000006219
AA Change: Q78R

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

possibly damaging
Transcript: ENSMUST00000105784
AA Change: Q78R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101410
Gene: ENSMUSG00000006219
AA Change: Q78R

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

possibly damaging
Transcript: ENSMUST00000105785
AA Change: Q78R

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101411
Gene: ENSMUSG00000006219
AA Change: Q78R

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: ENSMUST00000123150

SMART Domains

Protein: ENSMUSP00000121037
Gene: ENSMUSG00000006219

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000127455
AA Change: Q78R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120028
Gene: ENSMUSG00000006219
AA Change: Q78R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000129602
AA Change: Q78R

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118647
Gene: ENSMUSG00000006219
AA Change: Q78R

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: Q78R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115992
Gene: ENSMUSG00000006219
AA Change: Q78R

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

possibly damaging
Transcript: ENSMUST00000153189
AA Change: Q78R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123322
Gene: ENSMUSG00000006219
AA Change: Q78R

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

possibly damaging
Transcript: ENSMUST00000141518
AA Change: Q78R

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123669
Gene: ENSMUSG00000006219
AA Change: Q78R

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 damaging
Transcript: ENSMUST00000147764
AA Change: Q78R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120600
Gene: ENSMUSG00000006219
AA Change: Q78R

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 damaging
Transcript: ENSMUST00000131317
AA Change: Q78R

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

SMART Domains

Protein: ENSMUSP00000116395
Gene: ENSMUSG00000006219
AA Change: Q78R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147785
AA Change: Q78R

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114313
Gene: ENSMUSG00000006219
AA Change: Q78R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137491

Predicted Effect

probably benign
Transcript: ENSMUST00000133874

Predicted Effect

probably benign
Transcript: ENSMUST00000136831

SMART Domains

Protein: ENSMUSP00000116596
Gene: ENSMUSG00000006219

Domain	Start	End	E-Value	Type
PDB:2K9U\|B	1	24	9e-10	PDB

Meta Mutation Damage Score

0.1784

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

100% (122/122)

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,144 (GRCm39)	H571Q	probably damaging	Het
Abcf2	T	A	5: 24,773,774 (GRCm39)	M372L	probably benign	Het
Acaca	A	C	11: 84,206,795 (GRCm39)	T1552P	probably damaging	Het
Acaca	A	G	11: 84,229,219 (GRCm39)	D1682G	probably damaging	Het
Acvr1b	T	C	15: 101,091,906 (GRCm39)	V62A	probably benign	Het
Aimp1	C	T	3: 132,379,825 (GRCm39)	V97M	probably benign	Het
Aldh1l1	C	T	6: 90,554,813 (GRCm39)	T557I	possibly damaging	Het
Alpk1	T	C	3: 127,471,447 (GRCm39)	T1012A	probably damaging	Het
Amot	G	A	X: 144,233,585 (GRCm39)		probably benign	Het
Arap1	T	A	7: 101,037,829 (GRCm39)	H477Q	probably benign	Het
Arhgap18	T	A	10: 26,736,732 (GRCm39)		probably benign	Het
Arhgef10l	C	T	4: 140,242,684 (GRCm39)	V862M	probably damaging	Het
Arl4d	A	G	11: 101,557,554 (GRCm39)	I27V	probably benign	Het
Asb18	G	A	1: 89,942,277 (GRCm39)	P8L	probably damaging	Het
Ash1l	A	G	3: 88,977,616 (GRCm39)	H2682R	probably damaging	Het
Aspm	T	A	1: 139,385,079 (GRCm39)	V241E	probably benign	Het
Atf7ip	G	T	6: 136,586,217 (GRCm39)		probably benign	Het
AY358078	T	G	14: 52,042,051 (GRCm39)	M142R	unknown	Het
C3	T	A	17: 57,526,592 (GRCm39)	K796N	possibly damaging	Het
Ceacam16	T	C	7: 19,590,041 (GRCm39)	T301A	probably damaging	Het
Ceacam5	T	G	7: 17,481,320 (GRCm39)	Y356D	probably benign	Het
Cep192	C	T	18: 67,984,838 (GRCm39)	A1616V	possibly damaging	Het
Cfap91	T	A	16: 38,141,781 (GRCm39)	N384Y	possibly damaging	Het
Cherp	A	T	8: 73,216,994 (GRCm39)	H645Q	probably benign	Het
CK137956	T	C	4: 127,845,242 (GRCm39)	D167G	probably benign	Het
Clcn1	T	A	6: 42,275,860 (GRCm39)		probably null	Het
Cntn1	C	T	15: 92,189,552 (GRCm39)	T625I	possibly damaging	Het
Cpn2	T	A	16: 30,078,142 (GRCm39)	N520Y	probably damaging	Het
Crocc	G	A	4: 140,746,620 (GRCm39)	R1762W	probably damaging	Het
Cts3	C	A	13: 61,715,967 (GRCm39)	V100F	probably benign	Het
Ddx56	A	T	11: 6,216,934 (GRCm39)	V87D	probably damaging	Het
Dnah9	C	T	11: 66,010,420 (GRCm39)		probably null	Het
Dock1	T	A	7: 134,700,456 (GRCm39)		probably null	Het
Dst	T	A	1: 34,191,552 (GRCm39)	Y291*	probably null	Het
Eif4g3	T	C	4: 137,898,442 (GRCm39)	I1071T	probably damaging	Het
Fcamr	C	T	1: 130,739,284 (GRCm39)	P195S	probably benign	Het
Fcho1	G	A	8: 72,161,666 (GRCm39)	Q835*	probably null	Het
Frem3	A	G	8: 81,339,741 (GRCm39)	N678S	probably benign	Het
Frk	G	A	10: 34,483,878 (GRCm39)	R413H	probably benign	Het
Gm10619	C	A	7: 73,459,758 (GRCm39)		noncoding transcript	Het
Gm12185	G	A	11: 48,806,583 (GRCm39)	R203*	probably null	Het
Gm12886	A	G	4: 121,280,174 (GRCm39)	V34A	probably benign	Het
Gna12	A	T	5: 140,746,707 (GRCm39)	I246N	probably damaging	Het
Gpm6a	T	C	8: 55,507,867 (GRCm39)	M201T	probably benign	Het
Gpsm2	T	G	3: 108,608,225 (GRCm39)	D220A	probably benign	Het
Grip2	C	G	6: 91,760,623 (GRCm39)	V325L	probably benign	Het
Grk5	C	A	19: 61,065,200 (GRCm39)	A288D	probably damaging	Het
Herpud2	G	A	9: 25,021,953 (GRCm39)	A231V	possibly damaging	Het
Hmcn1	T	C	1: 150,624,834 (GRCm39)	S1024G	probably benign	Het
Hp1bp3	A	G	4: 137,957,820 (GRCm39)	D295G	probably damaging	Het
Igsf21	T	C	4: 139,761,703 (GRCm39)	H325R	probably damaging	Het
Ing2	T	A	8: 48,122,364 (GRCm39)	L61F	probably damaging	Het
Jak3	T	C	8: 72,138,590 (GRCm39)		probably benign	Het
Kcnn3	T	A	3: 89,516,712 (GRCm39)	C374S	probably benign	Het
Klk1b22	A	G	7: 43,765,775 (GRCm39)		probably benign	Het
Larp1	T	C	11: 57,940,764 (GRCm39)	M630T	possibly damaging	Het
Lhx5	T	A	5: 120,572,725 (GRCm39)	C115S	probably damaging	Het
Lmcd1	C	A	6: 112,305,712 (GRCm39)	T271K	probably benign	Het
Lpar1	G	A	4: 58,486,798 (GRCm39)	R158*	probably null	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Map3k8	G	A	18: 4,332,389 (GRCm39)	Q441*	probably null	Het
Mboat1	T	C	13: 30,403,633 (GRCm39)	V144A	probably damaging	Het
Mcur1	C	T	13: 43,713,491 (GRCm39)	G38S	unknown	Het
Med13	T	A	11: 86,220,177 (GRCm39)	M276L	probably benign	Het
Mefv	A	G	16: 3,526,528 (GRCm39)	S699P	possibly damaging	Het
Mfsd4a	C	A	1: 131,987,077 (GRCm39)	A62S	probably damaging	Het
Mmp27	A	G	9: 7,571,459 (GRCm39)	M1V	probably null	Het
Myo1c	C	T	11: 75,548,415 (GRCm39)	T58I	probably damaging	Het
Myom3	A	T	4: 135,538,066 (GRCm39)	D1316V	probably benign	Het
Naa25	T	A	5: 121,555,478 (GRCm39)	C235S	possibly damaging	Het
Naa25	C	A	5: 121,558,656 (GRCm39)	R333S	probably damaging	Het
Nav3	G	A	10: 109,539,233 (GRCm39)	T2056I	probably benign	Het
Nol4	A	G	18: 22,902,878 (GRCm39)	Y378H	probably damaging	Het
Npat	G	A	9: 53,463,589 (GRCm39)	R124Q	probably damaging	Het
Npr3	T	A	15: 11,848,665 (GRCm39)	E434V	probably benign	Het
Nptx2	A	G	5: 144,485,130 (GRCm39)	T208A	probably benign	Het
Obscn	C	T	11: 58,968,606 (GRCm39)	V2798M	probably damaging	Het
Odad4	C	A	11: 100,460,679 (GRCm39)		probably null	Het
Or10j7	A	T	1: 173,011,976 (GRCm39)	H8Q	probably benign	Het
Or52r1	A	G	7: 102,537,250 (GRCm39)	Y37H	probably benign	Het
Or5b122	C	T	19: 13,562,779 (GRCm39)	T37I	probably benign	Het
Padi1	G	A	4: 140,541,967 (GRCm39)	P652S	probably damaging	Het
Pcdh1	G	T	18: 38,331,938 (GRCm39)	P355Q	probably damaging	Het
Pck2	G	A	14: 55,781,422 (GRCm39)	R189H	possibly damaging	Het
Pcsk5	T	A	19: 17,432,114 (GRCm39)	K1500N	possibly damaging	Het
Phc3	A	T	3: 31,002,865 (GRCm39)	S218T	probably damaging	Het
Piezo2	T	A	18: 63,239,355 (GRCm39)	M510L	possibly damaging	Het
Polr1g	T	C	7: 19,091,904 (GRCm39)	T68A	possibly damaging	Het
Ppp1r3a	A	T	6: 14,754,717 (GRCm39)	Y177N	probably damaging	Het
Psme2b	A	T	11: 48,836,361 (GRCm39)	D195E	probably damaging	Het
Ptprr	T	C	10: 116,088,827 (GRCm39)	V463A	probably damaging	Het
Pwwp2b	G	A	7: 138,836,281 (GRCm39)	R574Q	probably damaging	Het
Rap1gds1	T	A	3: 138,756,314 (GRCm39)	T14S	possibly damaging	Het
Rbm11	A	T	16: 75,397,685 (GRCm39)	K205M	probably damaging	Het
Rfx1	T	A	8: 84,793,050 (GRCm39)		probably benign	Het
Rnasel	C	A	1: 153,630,169 (GRCm39)	H228Q	probably damaging	Het
Sap130	T	A	18: 31,831,640 (GRCm39)	I710K	probably benign	Het
Slc27a4	C	A	2: 29,695,733 (GRCm39)	D89E	probably benign	Het
Spata31d1b	T	C	13: 59,863,779 (GRCm39)	V309A	probably benign	Het
Syt7	T	G	19: 10,421,354 (GRCm39)	Y420D	probably damaging	Het
Tanc2	A	G	11: 105,515,859 (GRCm39)		probably null	Het
Tbc1d10b	A	G	7: 126,802,930 (GRCm39)	S333P	possibly damaging	Het
Tenm2	G	A	11: 35,914,209 (GRCm39)	P2442S	probably damaging	Het
Tenm3	C	T	8: 49,127,579 (GRCm39)	C33Y	probably damaging	Het
Timmdc1	A	G	16: 38,319,419 (GRCm39)	L245P	possibly damaging	Het
Tlr5	T	C	1: 182,800,012 (GRCm39)	F5L	probably benign	Het
Ttll4	T	A	1: 74,726,999 (GRCm39)	F784L	possibly damaging	Het
Tulp4	A	G	17: 6,189,387 (GRCm39)	T70A	possibly damaging	Het
Txndc17	T	A	11: 72,099,571 (GRCm39)	N81K	probably benign	Het
Ubr3	C	T	2: 69,830,895 (GRCm39)		probably benign	Het
Uri1	A	C	7: 37,681,116 (GRCm39)	V96G	probably damaging	Het
Uspl1	T	A	5: 149,150,246 (GRCm39)	I482N	probably damaging	Het
Vmn1r229	A	G	17: 21,034,974 (GRCm39)	N73S	possibly damaging	Het
Vwa7	G	T	17: 35,243,388 (GRCm39)	G689*	probably null	Het
Zfp114	T	A	7: 23,877,164 (GRCm39)		probably null	Het
Zfp618	A	G	4: 63,051,474 (GRCm39)	S659G	probably damaging	Het
Zfp872	A	G	9: 22,111,349 (GRCm39)	K275R	probably damaging	Het
Zzef1	C	T	11: 72,777,535 (GRCm39)	P1789S	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
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'- TGTGTGTACCCATGTACCCA -3'
(R):5'- CGAGATGTAGCCGTGAGTGA -3'

Sequencing Primer
(F):5'- AGCATTTTTACCGGCAGAGC -3'
(R):5'- TGTAGCCGTGAGTGAGGAAGTG -3'

Posted On

2014-06-23