Mutagenetix > Incidental Mutations

Incidental Mutation 'R1515:Flii'

168235

Institutional Source

Beutler Lab

Gene Symbol

Flii

Ensembl Gene

ENSMUSG00000002812

Gene Name

flightless I actin binding protein

Synonyms

Fliih, 3632430F08Rik

MMRRC Submission

039562-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1515 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60714123-60727263 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 60721606 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002889 (fasta)

Gene Model

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

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000137226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154465

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.4%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	A	G	7: 27,637,158	T401A	probably damaging	Het
Arhgap32	G	T	9: 32,116,202	V23L	probably benign	Het
Atmin	T	A	8: 116,954,840	C193S	possibly damaging	Het
Atp13a5	C	T	16: 29,333,974	V225I	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
BC024139	A	G	15: 76,124,326	V350A	possibly damaging	Het
Birc6	G	T	17: 74,528,636	E29*	probably null	Het
Bnc2	T	C	4: 84,414,326	N104S	probably null	Het
C030048H21Rik	T	C	2: 26,257,503		probably null	Het
Cd320	G	T	17: 33,847,639	C117F	probably damaging	Het
Cdkal1	A	G	13: 29,326,150	S542P	probably damaging	Het
Crocc	T	C	4: 141,019,737	T1587A	probably benign	Het
Defb41	T	C	1: 18,260,593		probably null	Het
Dmtf1	A	G	5: 9,140,384		probably null	Het
Dnhd1	A	G	7: 105,704,148	N2836S	probably benign	Het
Dpp8	G	A	9: 65,078,748	S840N	probably benign	Het
Dsc2	A	G	18: 20,034,701	F111L	probably damaging	Het
Dsc2	T	A	18: 20,045,565	I261F	probably benign	Het
Ece1	T	C	4: 137,951,508	V509A	probably benign	Het
Ecm2	T	C	13: 49,518,332	M103T	possibly damaging	Het
Emsy	T	C	7: 98,590,856	H1064R	probably damaging	Het
Engase	T	C	11: 118,487,140	V252A	possibly damaging	Het
F13b	A	G	1: 139,510,965	Y369C	probably damaging	Het
Fzd10	T	A	5: 128,602,559	F448I	probably damaging	Het
Gpr35	T	G	1: 92,983,048	F161V	probably damaging	Het
Gprin2	T	C	14: 34,195,273	D180G	possibly damaging	Het
Grik3	A	G	4: 125,670,728	N501S	probably benign	Het
Hells	A	G	19: 38,967,765	K802E	probably damaging	Het
Il1r1	T	A	1: 40,293,349	C96*	probably null	Het
Kcnk16	T	A	14: 20,265,277	I73F	probably damaging	Het
Kcnq5	A	G	1: 21,402,681	S652P	probably benign	Het
Lamc3	A	G	2: 31,940,751	D1500G	probably damaging	Het
Macf1	A	G	4: 123,378,480	F6468L	probably damaging	Het
Mgrn1	T	A	16: 4,915,780	F198I	probably benign	Het
Mmp3	A	G	9: 7,451,232	T323A	probably benign	Het
N4bp2	A	G	5: 65,790,498	Y157C	probably benign	Het
Nfkbid	C	A	7: 30,425,356	H190Q	probably benign	Het
Olfr1474	T	C	19: 13,471,680	S237P	probably damaging	Het
Olfr512	T	C	7: 108,713,941	V184A	possibly damaging	Het
Olfr790	T	C	10: 129,501,591	S236P	probably damaging	Het
Osgin2	C	T	4: 15,998,380	G414D	probably benign	Het
Pkd1	G	A	17: 24,594,853	R4097H	probably benign	Het
Pnkd	T	A	1: 74,349,809	L213Q	probably null	Het
Ppfibp1	A	G	6: 147,027,432	H850R	probably benign	Het
Ppp6r1	T	C	7: 4,643,258	D148G	probably damaging	Het
Ptprt	A	T	2: 162,238,034	S282T	probably damaging	Het
Sgsm3	T	C	15: 81,010,256	V536A	probably benign	Het
Slc22a23	T	A	13: 34,203,964	Q383L	probably benign	Het
Snx29	T	C	16: 11,399,837		probably null	Het
Tmem229b-ps	T	A	10: 53,475,446		noncoding transcript	Het
Tmod4	A	T	3: 95,128,679	Y317F	possibly damaging	Het
Trim13	T	C	14: 61,605,659	M375T	probably benign	Het
Txndc11	A	G	16: 11,075,062	S935P	probably damaging	Het
Umod	T	C	7: 119,465,497	N592D	probably benign	Het
Vmn2r118	A	G	17: 55,610,643	Y290H	probably benign	Het
Vps26b	A	G	9: 27,012,745	M234T	probably damaging	Het
Zbtb48	A	G	4: 152,020,201		probably null	Het
Zfc3h1	T	A	10: 115,416,742	F1320Y	probably benign	Het
Zfp784	A	T	7: 5,036,040		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
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
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
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
X0025:Flii	UTSW	11	60721708	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- TGCAGACAGATCGCCAAGTGTGAG -3'
(R):5'- TGTCGTGCAATGACTTGACAAGGG -3'

Sequencing Primer
(F):5'- ACCTGCAGAGACTTTCAGGA -3'
(R):5'- TGACTTGACAAGGGTGCCG -3'

Posted On

2014-04-13