Mutagenetix > Incidental Mutations

Incidental Mutation 'R0350:Flii'

29661

Institutional Source

Beutler Lab

Gene Symbol

Flii

Ensembl Gene

ENSMUSG00000002812

Gene Name

flightless I actin binding protein

Synonyms

Fliih, 3632430F08Rik

MMRRC Submission

038557-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0350 (G1)

Quality Score

174

Status

Not validated

Chromosome

Chromosomal Location

60714123-60727263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60721857 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 227 (D227G)

Ref Sequence

ENSEMBL: ENSMUSP00000002889 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000002889
AA Change: D227G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: D227G

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: 99.0%
3x: 97.9%
10x: 95.2%
20x: 89.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd13	T	A	8: 9,987,600	Y66N	probably damaging	Het
Apol6	C	T	15: 77,050,947	Q139*	probably null	Het
Armh1	C	A	4: 117,215,556	E244*	probably null	Het
BC052040	T	C	2: 115,776,930	Y255H	possibly damaging	Het
Ccdc130	C	T	8: 84,260,648	E99K	probably damaging	Het
Cd1d1	A	T	3: 86,997,573	H219Q	probably benign	Het
Cdca2	A	G	14: 67,713,119	L121P	probably benign	Het
Cog4	T	A	8: 110,853,696	L133I	possibly damaging	Het
Csf1	T	C	3: 107,748,606	M370V	probably benign	Het
Ddi2	G	A	4: 141,685,523	T26M	probably benign	Het
Dhcr7	A	G	7: 143,837,770	D32G	probably damaging	Het
Exd1	T	C	2: 119,523,566	N337S	possibly damaging	Het
Gm11639	T	C	11: 104,690,880	V16A	probably benign	Het
Hsf1	A	G	15: 76,500,479	T485A	probably benign	Het
Igfn1	G	A	1: 135,956,767	R2614*	probably null	Het
Iqch	T	C	9: 63,500,876	T630A	probably benign	Het
Itgal	T	A	7: 127,322,081	D770E	probably damaging	Het
Mroh1	T	A	15: 76,432,249	V759E	probably damaging	Het
Mrps17	A	G	5: 129,718,145		probably benign	Het
Mtpap	A	G	18: 4,396,195	S496G	possibly damaging	Het
Nkd1	T	A	8: 88,585,216	Y39*	probably null	Het
Nmd3	A	G	3: 69,743,574	Y359C	probably damaging	Het
Nr1h3	G	A	2: 91,191,825	L153F	possibly damaging	Het
Nuf2	T	A	1: 169,513,543		probably null	Het
Olfr1218	T	A	2: 89,055,356	K23N	probably benign	Het
Olfr1272	T	C	2: 90,282,582		probably null	Het
Olfr870	A	T	9: 20,170,736	Y278*	probably null	Het
Pnn	T	C	12: 59,067,117		probably null	Het
Ppm1j	A	G	3: 104,783,371	D230G	probably benign	Het
Ppp1r15a	A	T	7: 45,523,018	L650Q	probably damaging	Het
Prss37	T	C	6: 40,514,959	E229G	probably damaging	Het
Rbm19	T	C	5: 120,128,307	V465A	possibly damaging	Het
Rubcnl	G	T	14: 75,040,891	V372F	probably damaging	Het
Sema6a	G	T	18: 47,270,718	D595E	probably benign	Het
Slc35c1	A	G	2: 92,459,032	F43S	probably damaging	Het
Slc39a5	C	T	10: 128,396,750		probably null	Het
Slco4c1	A	G	1: 96,828,849	F583L	probably benign	Het
Sox9	A	G	11: 112,784,876	Y297C	probably damaging	Het
Taf1b	A	G	12: 24,514,885	D167G	possibly damaging	Het
Trpm6	T	C	19: 18,883,957		probably null	Het
Uba6	A	C	5: 86,144,378	V402G	possibly damaging	Het
Usp43	T	C	11: 67,876,498	Y682C	probably damaging	Het
Vmn1r195	A	G	13: 22,279,233	D291G	probably damaging	Het
Xpr1	A	T	1: 155,330,468	F156Y	probably damaging	Het
Zfp318	T	A	17: 46,413,198	H2042Q	probably benign	Het
Zfp937	T	A	2: 150,239,302	D417E	possibly 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
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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTAGAACAGAACCAGCACTCCTGC -3'
(R):5'- CATTGGGTTTCTGTCACTAGGCCAC -3'

Sequencing Primer
(F):5'- CAATGTCCCAGGCACAGG -3'
(R):5'- CCTGCTATGAGGAGTCTCTcaag -3'

Posted On

2013-04-24