Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03038:Flii'

408790

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 #

IGL03038

Quality Score

Status

Chromosome

Chromosomal Location

60714123-60727263 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60724832 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 69 (T69A)

Ref Sequence

ENSEMBL: ENSMUSP00000002889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002889] [ENSMUST00000018743]

AlphaFold

Q9JJ28

Predicted Effect

probably benign
Transcript: ENSMUST00000002889
AA Change: T69A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: T69A

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: ENSMUST00000018743

SMART Domains

Protein: ENSMUSP00000018743
Gene: ENSMUSG00000018599

Domain	Start	End	E-Value	Type
transmembrane domain	30	47	N/A	INTRINSIC
low complexity region	97	104	N/A	INTRINSIC
Mab-21	181	448	2.78e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146159

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154465

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154890

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174993

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadsb	T	C	7: 131,428,456	Y111H	probably damaging	Het
Arhgef6	C	T	X: 57,245,606	V262I	probably benign	Het
Arsk	C	A	13: 76,065,513		probably benign	Het
Ces1b	T	C	8: 93,067,052	E303G	probably benign	Het
Chst9	T	C	18: 15,495,303	Q55R	probably benign	Het
Cntnap3	A	T	13: 64,741,025	D1153E	possibly damaging	Het
D130043K22Rik	A	G	13: 24,879,619	E681G	probably damaging	Het
Fhad1	T	C	4: 142,002,494	E66G	probably benign	Het
Foxl1	A	C	8: 121,128,419	E153A	probably damaging	Het
Gstm3	T	C	3: 107,966,169	D162G	possibly damaging	Het
Gtpbp3	G	A	8: 71,489,303	V96I	possibly damaging	Het
Insig2	G	A	1: 121,319,674	T56I	probably damaging	Het
Kif13a	A	G	13: 46,772,838	L264P	probably damaging	Het
Lama3	T	G	18: 12,419,250	C420G	probably damaging	Het
Lrp2	C	T	2: 69,475,464	G2918S	probably damaging	Het
Lrrc8b	T	C	5: 105,481,492	L568P	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Malrd1	G	A	2: 16,127,967	D1900N	unknown	Het
Mastl	C	A	2: 23,140,615		probably benign	Het
Med24	T	G	11: 98,716,184	T276P	possibly damaging	Het
Naip1	A	C	13: 100,437,333	Y239*	probably null	Het
Nhsl2	A	G	X: 102,078,885	K765E	probably damaging	Het
Npy	A	G	6: 49,823,608	N4S	probably benign	Het
Nsun2	A	G	13: 69,619,584	D188G	probably damaging	Het
Olfr794	A	G	10: 129,570,921	T89A	probably benign	Het
Pde1a	C	A	2: 79,887,946		probably benign	Het
Pik3cb	G	A	9: 99,065,597	A509V	probably damaging	Het
Pou2f2	C	T	7: 25,097,152	S315N	probably damaging	Het
Prdm2	A	C	4: 143,134,001	S906R	probably damaging	Het
Prkaca	C	A	8: 83,994,951	Q300K	probably benign	Het
Prox2	T	C	12: 85,095,264	D55G	possibly damaging	Het
Ryr3	T	A	2: 112,668,120	T3612S	possibly damaging	Het
S1pr1	T	A	3: 115,712,694	I84L	possibly damaging	Het
Slc47a1	C	T	11: 61,353,092	V384M	probably benign	Het
Slc6a20b	T	C	9: 123,597,329	N497S	possibly damaging	Het
Spen	C	A	4: 141,538,239	R3L	unknown	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Ttll6	T	C	11: 96,151,960	F444S	probably damaging	Het
Vwce	T	A	19: 10,646,671	Y309N	possibly damaging	Het
Vwf	T	C	6: 125,604,157	L586P	possibly damaging	Het
Wdr35	T	C	12: 8,974,185		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
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
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

2016-08-02