Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02211:Flii'

284729

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Flii

Ensembl Gene

ENSMUSG00000002812

Gene Name

flightless I actin binding protein

Synonyms

Fliih, 3632430F08Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02211

Quality Score

Status

Chromosome

Chromosomal Location

60714123-60727263 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 60718298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000104359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002889] [ENSMUST00000052346] [ENSMUST00000108719]

AlphaFold

Q9JJ28

Predicted Effect

probably benign
Transcript: ENSMUST00000002889

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812

Domain	Start	End	E-Value	Type
LRR	55	78	1.08e-1	SMART
LRR	103	126	4.08e0	SMART
LRR	127	149	2.27e1	SMART
LRR	150	173	1.25e-1	SMART
LRR	222	244	6.78e1	SMART
LRR	245	268	2.86e-1	SMART
LRR	269	291	3.78e-1	SMART
LRR	316	339	2.82e0	SMART
LRR	340	362	2.27e2	SMART
low complexity region	403	420	N/A	INTRINSIC
GEL	499	597	4.17e-25	SMART
GEL	617	709	1.72e-26	SMART
low complexity region	727	740	N/A	INTRINSIC
GEL	745	838	2.24e-25	SMART
GEL	905	1039	1.13e-3	SMART
GEL	1056	1152	7.28e-16	SMART
GEL	1167	1263	5.51e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000052346

SMART Domains

Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536

Domain	Start	End	E-Value	Type
WD40	22	62	4.42e1	SMART
WD40	64	103	1.65e1	SMART
WD40	187	223	2.74e2	SMART
WD40	226	264	2.06e0	SMART
Pfam:LLGL	278	379	1.2e-43	PFAM
WD40	424	460	3.2e0	SMART
Blast:WD40	498	541	2e-13	BLAST
Blast:WD40	585	624	4e-9	BLAST
Pfam:Lgl_C	732	978	1.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108719

SMART Domains

Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536

Domain	Start	End	E-Value	Type
WD40	22	62	4.42e1	SMART
WD40	64	103	1.65e1	SMART
WD40	187	223	2.74e2	SMART
WD40	226	264	2.06e0	SMART
Pfam:LLGL	275	379	2e-48	PFAM
WD40	424	460	3.2e0	SMART
Blast:WD40	498	540	2e-13	BLAST
Blast:WD40	585	624	4e-9	BLAST
Pfam:Lgl_C	804	976	1.3e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154465

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein with gelsolin-like repeats and an N-terminal leucine-rich repeat domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. This protein may act as an actin-remodelling protein as well as a transcriptional coactivator. Homozygous knockout mice show embryonic lethality. This protein may act to regulate wound repair. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
PHENOTYPE: Embryos homozygous for a knock-out allele are able to initiate uterine implantation but degenerate rapidly thereafter. Heterozygous mutant mice display enhanced wound healing with increased epithelial migration and improved wound contraction. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apoc3	C	A	9: 46,233,215		probably benign	Het
Atp8a2	C	T	14: 60,027,976	G304R	probably benign	Het
Brd8	C	T	18: 34,602,727	S899N	probably damaging	Het
Cct4	A	G	11: 22,993,327		probably benign	Het
Cd28	T	C	1: 60,762,994	V24A	probably damaging	Het
Cfap70	T	C	14: 20,394,972	N1080S	probably damaging	Het
Cpa6	A	T	1: 10,595,636	I59K	possibly damaging	Het
Cramp1l	A	G	17: 24,977,636	S835P	possibly damaging	Het
Crim1	T	C	17: 78,355,145	L799S	probably damaging	Het
Cxcl16	T	C	11: 70,456,032	H95R	possibly damaging	Het
Dip2c	T	A	13: 9,610,847	C915S	probably damaging	Het
Dytn	T	A	1: 63,674,930	N137Y	possibly damaging	Het
Exoc5	T	A	14: 49,014,210	Q628L	probably damaging	Het
Hnrnph3	A	T	10: 63,017,342		probably benign	Het
Iqsec1	A	G	6: 90,671,609	L830P	probably damaging	Het
Kank1	G	T	19: 25,430,338	G1232V	probably damaging	Het
Kcnmb2	A	G	3: 32,198,334	E228G	probably damaging	Het
Limk1	A	T	5: 134,657,637	V538E	probably damaging	Het
Mmp20	T	A	9: 7,655,070	I393K	probably damaging	Het
Mtmr1	A	G	X: 71,412,257	D574G	possibly damaging	Het
Nr1h2	A	C	7: 44,550,460	M345R	probably damaging	Het
Nyap1	T	C	5: 137,739,675	H15R	probably damaging	Het
Olfr316	G	T	11: 58,758,370	S235I	possibly damaging	Het
Olfr652	A	T	7: 104,565,126	K302*	probably null	Het
Pde4b	T	G	4: 102,590,822		probably benign	Het
Pgrmc2	A	G	3: 41,082,633	V121A	probably damaging	Het
Ptges3	T	C	10: 128,076,058		probably benign	Het
Ranbp2	T	C	10: 58,478,242	S1595P	probably benign	Het
Rhbdf2	A	G	11: 116,600,435	F625L	possibly damaging	Het
Rhpn1	T	C	15: 75,711,056	S281P	possibly damaging	Het
Samd3	G	T	10: 26,233,557	G128W	probably damaging	Het
Sept5	T	C	16: 18,624,879	K51E	probably damaging	Het
Serpina7	G	A	X: 139,081,313	T185I	probably damaging	Het
Slc25a25	A	G	2: 32,417,440	V303A	probably damaging	Het
Slc5a4b	A	T	10: 76,060,463		probably benign	Het
Srpk3	A	T	X: 73,775,148	H114L	probably benign	Het
Sybu	T	G	15: 44,673,466	Q360P	probably damaging	Het
Vmn1r179	A	T	7: 23,929,205	I274F	probably benign	Het
Wdsub1	G	T	2: 59,858,736	R381S	probably damaging	Het
Wscd1	G	A	11: 71,788,975	R558H	probably damaging	Het

Other mutations in Flii

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Flii	APN	11	60723415	missense	probably benign	0.03
IGL00331:Flii	APN	11	60715833	missense	probably benign	0.40
IGL01530:Flii	APN	11	60720182	nonsense	probably null
IGL01678:Flii	APN	11	60716846	unclassified	probably benign
IGL01938:Flii	APN	11	60715116	missense	probably damaging	1.00
IGL02626:Flii	APN	11	60719859	missense	probably benign	0.37
IGL03038:Flii	APN	11	60724832	missense	probably benign	0.01
IGL03412:Flii	APN	11	60722640	missense	probably damaging	0.99
R0135:Flii	UTSW	11	60723378	missense	probably damaging	0.99
R0350:Flii	UTSW	11	60721857	missense	probably damaging	1.00
R0355:Flii	UTSW	11	60719680	splice site	probably null
R0524:Flii	UTSW	11	60720061	missense	probably damaging	0.98
R0636:Flii	UTSW	11	60715552	missense	probably damaging	1.00
R0639:Flii	UTSW	11	60722997	splice site	probably null
R1515:Flii	UTSW	11	60721606	critical splice acceptor site	probably null
R1544:Flii	UTSW	11	60719692	critical splice donor site	probably null
R1782:Flii	UTSW	11	60714636	missense	probably benign
R2922:Flii	UTSW	11	60718916	missense	probably damaging	1.00
R3691:Flii	UTSW	11	60719757	missense	probably benign	0.03
R3753:Flii	UTSW	11	60715480	missense	probably benign
R3875:Flii	UTSW	11	60720492	missense	probably benign
R3876:Flii	UTSW	11	60719872	missense	possibly damaging	0.85
R3924:Flii	UTSW	11	60720076	missense	probably damaging	1.00
R4621:Flii	UTSW	11	60716111	missense	possibly damaging	0.95
R4789:Flii	UTSW	11	60715093	missense	probably benign	0.33
R5153:Flii	UTSW	11	60716686	missense	possibly damaging	0.89
R5326:Flii	UTSW	11	60718862	missense	probably benign	0.30
R5340:Flii	UTSW	11	60717268	missense	probably damaging	0.99
R5364:Flii	UTSW	11	60720128	missense	probably benign	0.00
R5542:Flii	UTSW	11	60718862	missense	probably benign	0.30
R5592:Flii	UTSW	11	60720399	missense	probably benign	0.00
R5859:Flii	UTSW	11	60716311	nonsense	probably null
R5968:Flii	UTSW	11	60720212	missense	probably benign
R6009:Flii	UTSW	11	60720757	nonsense	probably null
R6287:Flii	UTSW	11	60721597	missense	probably damaging	1.00
R6368:Flii	UTSW	11	60721136	missense	probably damaging	1.00
R6997:Flii	UTSW	11	60722325	missense	probably benign	0.14
R7099:Flii	UTSW	11	60720655	missense	probably benign	0.05
R7324:Flii	UTSW	11	60719040	missense	probably benign
R7366:Flii	UTSW	11	60721119	missense	possibly damaging	0.67
R7371:Flii	UTSW	11	60718264	missense	probably benign	0.41
R7571:Flii	UTSW	11	60721136	missense	probably damaging	1.00
R7669:Flii	UTSW	11	60722664	missense	probably damaging	1.00
R7677:Flii	UTSW	11	60720145	missense	probably damaging	0.99
R7698:Flii	UTSW	11	60720092	missense	probably damaging	1.00
R8485:Flii	UTSW	11	60716237	missense	probably benign
R8821:Flii	UTSW	11	60725248	missense	probably benign	0.00
R8831:Flii	UTSW	11	60725248	missense	probably benign	0.00
R8839:Flii	UTSW	11	60718607	missense	possibly damaging	0.82
R9380:Flii	UTSW	11	60715471	missense	probably benign	0.23
R9448:Flii	UTSW	11	60715567	missense	probably benign	0.04
R9598:Flii	UTSW	11	60727165	missense	probably benign	0.01
RF011:Flii	UTSW	11	60716243	missense	probably benign	0.04
X0025:Flii	UTSW	11	60721708	missense	possibly damaging	0.62
Z1176:Flii	UTSW	11	60722313	missense	possibly damaging	0.69

Posted On

2015-04-16