Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00225:Flii'

2222

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00225

Quality Score

Status

Chromosome

Chromosomal Location

60604969-60618089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60614241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 93 (N93D)

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: N93D

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: N93D

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: 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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Gm8356	T	C	14: 17,693,287 (GRCm39)	K24E	probably damaging	Het
Hars1	G	A	18: 36,901,225 (GRCm39)	T409M	probably damaging	Het
Ivns1abp	A	G	1: 151,226,863 (GRCm39)		probably null	Het
Kcnq4	G	A	4: 120,555,213 (GRCm39)	Q657*	probably null	Het
Kdm4c	T	G	4: 74,263,804 (GRCm39)	V696G	probably benign	Het
Klrb1f	T	A	6: 129,030,138 (GRCm39)		probably benign	Het
Lrp4	G	A	2: 91,325,371 (GRCm39)	V1399I	probably benign	Het
LTO1	G	A	7: 144,471,405 (GRCm39)	G86D	possibly damaging	Het
Mki67	A	G	7: 135,291,849 (GRCm39)	V3168A	probably benign	Het
Nf1	T	A	11: 79,286,731 (GRCm39)	I177K	probably damaging	Het
Nnt	A	T	13: 119,506,533 (GRCm39)	N371K	probably damaging	Het
Or13a27	A	G	7: 139,925,123 (GRCm39)	Y260H	probably damaging	Het
Or5p52	C	T	7: 107,502,311 (GRCm39)	P129L	probably damaging	Het
Prkdc	G	T	16: 15,627,508 (GRCm39)	V3389L	possibly damaging	Het
Prr16	T	A	18: 51,436,192 (GRCm39)	Y224N	possibly damaging	Het
Ptgs1	G	A	2: 36,127,231 (GRCm39)	C39Y	probably damaging	Het
Sla	T	C	15: 66,654,479 (GRCm39)	D269G	possibly damaging	Het
Stk38l	T	A	6: 146,659,971 (GRCm39)	M1K	probably null	Het
Trim24	T	A	6: 37,880,583 (GRCm39)	N160K	possibly damaging	Het
Zfp451	A	G	1: 33,825,621 (GRCm39)		probably benign	Het

Other mutations in Flii

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Flii	APN	11	60,606,659 (GRCm39)	missense	probably benign	0.40
IGL01530:Flii	APN	11	60,611,008 (GRCm39)	nonsense	probably null
IGL01678:Flii	APN	11	60,607,672 (GRCm39)	unclassified	probably benign
IGL01938:Flii	APN	11	60,605,942 (GRCm39)	missense	probably damaging	1.00
IGL02211:Flii	APN	11	60,609,124 (GRCm39)	unclassified	probably benign
IGL02626:Flii	APN	11	60,610,685 (GRCm39)	missense	probably benign	0.37
IGL03038:Flii	APN	11	60,615,658 (GRCm39)	missense	probably benign	0.01
IGL03412:Flii	APN	11	60,613,466 (GRCm39)	missense	probably damaging	0.99
R0135:Flii	UTSW	11	60,614,204 (GRCm39)	missense	probably damaging	0.99
R0350:Flii	UTSW	11	60,612,683 (GRCm39)	missense	probably damaging	1.00
R0355:Flii	UTSW	11	60,610,506 (GRCm39)	splice site	probably null
R0524:Flii	UTSW	11	60,610,887 (GRCm39)	missense	probably damaging	0.98
R0636:Flii	UTSW	11	60,606,378 (GRCm39)	missense	probably damaging	1.00
R0639:Flii	UTSW	11	60,613,823 (GRCm39)	splice site	probably null
R1515:Flii	UTSW	11	60,612,432 (GRCm39)	critical splice acceptor site	probably null
R1544:Flii	UTSW	11	60,610,518 (GRCm39)	critical splice donor site	probably null
R1782:Flii	UTSW	11	60,605,462 (GRCm39)	missense	probably benign
R2922:Flii	UTSW	11	60,609,742 (GRCm39)	missense	probably damaging	1.00
R3691:Flii	UTSW	11	60,610,583 (GRCm39)	missense	probably benign	0.03
R3753:Flii	UTSW	11	60,606,306 (GRCm39)	missense	probably benign
R3875:Flii	UTSW	11	60,611,318 (GRCm39)	missense	probably benign
R3876:Flii	UTSW	11	60,610,698 (GRCm39)	missense	possibly damaging	0.85
R3924:Flii	UTSW	11	60,610,902 (GRCm39)	missense	probably damaging	1.00
R4621:Flii	UTSW	11	60,606,937 (GRCm39)	missense	possibly damaging	0.95
R4789:Flii	UTSW	11	60,605,919 (GRCm39)	missense	probably benign	0.33
R5153:Flii	UTSW	11	60,607,512 (GRCm39)	missense	possibly damaging	0.89
R5326:Flii	UTSW	11	60,609,688 (GRCm39)	missense	probably benign	0.30
R5340:Flii	UTSW	11	60,608,094 (GRCm39)	missense	probably damaging	0.99
R5364:Flii	UTSW	11	60,610,954 (GRCm39)	missense	probably benign	0.00
R5542:Flii	UTSW	11	60,609,688 (GRCm39)	missense	probably benign	0.30
R5592:Flii	UTSW	11	60,611,225 (GRCm39)	missense	probably benign	0.00
R5859:Flii	UTSW	11	60,607,137 (GRCm39)	nonsense	probably null
R5968:Flii	UTSW	11	60,611,038 (GRCm39)	missense	probably benign
R6009:Flii	UTSW	11	60,611,583 (GRCm39)	nonsense	probably null
R6287:Flii	UTSW	11	60,612,423 (GRCm39)	missense	probably damaging	1.00
R6368:Flii	UTSW	11	60,611,962 (GRCm39)	missense	probably damaging	1.00
R6997:Flii	UTSW	11	60,613,151 (GRCm39)	missense	probably benign	0.14
R7099:Flii	UTSW	11	60,611,481 (GRCm39)	missense	probably benign	0.05
R7324:Flii	UTSW	11	60,609,866 (GRCm39)	missense	probably benign
R7366:Flii	UTSW	11	60,611,945 (GRCm39)	missense	possibly damaging	0.67
R7371:Flii	UTSW	11	60,609,090 (GRCm39)	missense	probably benign	0.41
R7571:Flii	UTSW	11	60,611,962 (GRCm39)	missense	probably damaging	1.00
R7669:Flii	UTSW	11	60,613,490 (GRCm39)	missense	probably damaging	1.00
R7677:Flii	UTSW	11	60,610,971 (GRCm39)	missense	probably damaging	0.99
R7698:Flii	UTSW	11	60,610,918 (GRCm39)	missense	probably damaging	1.00
R8485:Flii	UTSW	11	60,607,063 (GRCm39)	missense	probably benign
R8821:Flii	UTSW	11	60,616,074 (GRCm39)	missense	probably benign	0.00
R8831:Flii	UTSW	11	60,616,074 (GRCm39)	missense	probably benign	0.00
R8839:Flii	UTSW	11	60,609,433 (GRCm39)	missense	possibly damaging	0.82
R9380:Flii	UTSW	11	60,606,297 (GRCm39)	missense	probably benign	0.23
R9448:Flii	UTSW	11	60,606,393 (GRCm39)	missense	probably benign	0.04
R9598:Flii	UTSW	11	60,617,991 (GRCm39)	missense	probably benign	0.01
RF011:Flii	UTSW	11	60,607,069 (GRCm39)	missense	probably benign	0.04
X0025:Flii	UTSW	11	60,612,534 (GRCm39)	missense	possibly damaging	0.62
Z1176:Flii	UTSW	11	60,613,139 (GRCm39)	missense	possibly damaging	0.69

Posted On

2011-12-09