Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00331:Flii'

4585

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

60714123-60727263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60715833 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1061 (I1061T)

Ref Sequence

ENSEMBL: ENSMUSP00000002889 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000002889
AA Change: I1061T

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: I1061T

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,281,436		probably benign	Het
Adamts19	T	A	18: 59,007,325		probably benign	Het
Afg3l1	T	A	8: 123,487,389	F190I	probably benign	Het
Alms1	T	A	6: 85,641,371	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,415,517	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,267,014	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,088,934		probably null	Het
Chuk	T	C	19: 44,088,023	I416M	possibly damaging	Het
Dmbt1	A	T	7: 131,099,290	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,620	T3873A	probably damaging	Het
Endog	C	T	2: 30,172,900	T184M	probably damaging	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgbp	T	C	7: 28,101,541		probably benign	Het
Hdac2	T	A	10: 36,997,071	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,163,517	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,802,972	L263P	probably damaging	Het
Klf17	T	C	4: 117,761,038	T41A	probably benign	Het
Lrrfip1	T	C	1: 91,068,621	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,385,188	V614I	probably benign	Het
Mocs1	T	G	17: 49,435,264		probably null	Het
Moxd1	T	C	10: 24,282,555		probably benign	Het
Mterf1a	T	C	5: 3,891,610	E86G	probably damaging	Het
Muc4	A	G	16: 32,753,185	D1021G	probably benign	Het
Nomo1	T	C	7: 46,045,336	S212P	possibly damaging	Het
Olfr1471	A	G	19: 13,445,624	D204G	probably benign	Het
Olfr893	T	A	9: 38,209,238	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,348,029	T385P	probably damaging	Het
Piwil4	A	T	9: 14,715,031		probably benign	Het
Pknox1	T	C	17: 31,599,645		probably null	Het
Prr14l	T	C	5: 32,831,066	I362V	probably benign	Het
Sergef	C	T	7: 46,635,420		probably null	Het
Sez6l	T	C	5: 112,424,645	D948G	probably damaging	Het
Skor1	A	T	9: 63,146,441	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086	Q87*	probably null	Het
Syde2	A	G	3: 146,014,341	K772E	possibly damaging	Het
Taf2	T	A	15: 55,071,449		probably null	Het
Tbc1d13	T	A	2: 30,140,511	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,684,415	F91L	probably benign	Het
Tmem63a	A	G	1: 180,966,497	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,985,994	N712K	possibly damaging	Het
Trip12	A	T	1: 84,730,541	D603E	probably damaging	Het
Trmt11	T	C	10: 30,566,449	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,754,533	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,155,773	H33R	probably benign	Het
Zfp207	A	G	11: 80,389,002	D111G	probably benign	Het

Other mutations in Flii

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Flii	APN	11	60723415	missense	probably benign	0.03
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
IGL02211:Flii	APN	11	60718298	unclassified	probably benign
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
Dry_tortugas	UTSW	11	60720757	nonsense	probably null
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
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

2012-04-20