Mutagenetix > Incidental Mutation

Incidental Mutation 'R7669:Flii'

592055

Institutional Source

Beutler Lab

Gene Symbol

Flii

Ensembl Gene

ENSMUSG00000002812

Gene Name

flightless I actin binding protein

Synonyms

Fliih, 3632430F08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60714123-60727263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60722664 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 166 (L166F)

Ref Sequence

ENSEMBL: ENSMUSP00000002889 (fasta)

Gene Model

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

AlphaFold

Q9JJ28

Predicted Effect

probably damaging
Transcript: ENSMUST00000002889
AA Change: L166F

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

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: L166F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (52/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930435E12Rik	C	T	16: 38,828,091	D219N	possibly damaging	Het
5830411N06Rik	A	G	7: 140,296,321	S569G	possibly damaging	Het
Aars2	C	T	17: 45,520,295	P930S	probably benign	Het
Ada	T	A	2: 163,728,191	K301*	probably null	Het
Alb	T	C	5: 90,463,991	L93P	possibly damaging	Het
Aldh1l1	G	A	6: 90,570,862	G435S	probably benign	Het
Alox12b	A	T	11: 69,169,341	I627F	probably benign	Het
Aloxe3	A	G	11: 69,135,120	I503V	probably benign	Het
Arhgap29	C	T	3: 121,992,812	A342V	probably damaging	Het
BC024139	G	A	15: 76,120,568	P636L	possibly damaging	Het
Bmp6	G	T	13: 38,484,920	R293L	probably damaging	Het
Cfd	G	A	10: 79,891,613		probably null	Het
Csmd1	C	T	8: 15,917,273	A3197T	probably damaging	Het
Fmn1	T	A	2: 113,365,477	N507K	unknown	Het
Foxe1	C	A	4: 46,344,545	R118S	possibly damaging	Het
Fras1	T	C	5: 96,692,624	V1646A	probably benign	Het
Gm14496	A	G	2: 181,995,918	T262A	possibly damaging	Het
Gpbp1	A	T	13: 111,439,124	S282T	probably benign	Het
Gria4	A	T	9: 4,462,029	N641K	probably damaging	Het
Grin2a	T	G	16: 9,992,463	N24T	probably benign	Het
Gstm2	T	G	3: 107,985,676	D40A	probably benign	Het
H2afy	T	C	13: 56,128,333	Y39C	probably damaging	Het
Heatr1	T	A	13: 12,411,262	I657N	probably benign	Het
Kmt2b	T	C	7: 30,583,231	E1102G	possibly damaging	Het
Mgam	T	A	6: 40,659,010	N366K	probably benign	Het
Mier2	A	T	10: 79,549,676	V35E	probably damaging	Het
Mlxipl	T	C	5: 135,132,370	F381S	possibly damaging	Het
Mroh1	A	G	15: 76,451,848	H1474R	possibly damaging	Het
Mtrf1l	G	T	10: 5,815,620	A239E	probably damaging	Het
Nbea	G	T	3: 55,717,779	A2297E	probably damaging	Het
Nectin4	A	G	1: 171,380,259	E73G	probably benign	Het
Neurl1b	C	G	17: 26,438,746	H219Q	probably benign	Het
Nfia	G	A	4: 97,783,505	V151I	probably damaging	Het
Nol6	A	G	4: 41,118,717	L720P	probably damaging	Het
Olfr58	A	G	9: 19,783,543	N137D	possibly damaging	Het
Olfr772	A	G	10: 129,174,259	F254S	probably damaging	Het
Patj	A	G	4: 98,518,942	E1054G	probably damaging	Het
Pcnx	A	G	12: 81,990,551	D1861G	probably damaging	Het
Prss12	A	G	3: 123,447,396	T80A	probably benign	Het
Sgsm1	C	A	5: 113,253,024	R1000L	probably damaging	Het
Sulf2	T	C	2: 166,093,596	D199G	possibly damaging	Het
Suox	T	C	10: 128,670,911	D416G	probably benign	Het
Syne1	G	A	10: 5,061,531	T38M	probably damaging	Het
Tcf7l2	T	A	19: 55,924,543	C421*	probably null	Het
Traf7	C	A	17: 24,513,308	G143*	probably null	Het
Trappc12	T	C	12: 28,711,958	I544V	probably benign	Het
Trmt1	G	A	8: 84,697,551	V434I	probably benign	Het
Ttc5	T	C	14: 50,777,330	H160R	probably benign	Het
Xirp2	T	A	2: 67,512,177	H1587Q	probably benign	Het
Zfp523	C	T	17: 28,201,041	T220M	probably damaging	Het
Zfp804b	A	T	5: 6,769,362	S1234T	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- ATAGCAAGCACAGGCCAGTG -3'
(R):5'- GAACATGCTGGTGCTCAAC -3'

Sequencing Primer
(F):5'- ACAGGCCAGTGCTGAGG -3'
(R):5'- TCAGCCACAACGGGTACTG -3'

Posted On

2019-11-12