Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Flii'

568757

Institutional Source

Beutler Lab

Gene Symbol

Flii

Ensembl Gene

ENSMUSG00000002812

Gene Name

flightless I actin binding protein

Synonyms

Fliih, 3632430F08Rik

MMRRC Submission

045418-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60604969-60618089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60609866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 615 (T615I)

Ref Sequence

ENSEMBL: ENSMUSP00000002889 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002889] [ENSMUST00000052346] [ENSMUST00000108719]

AlphaFold

Q9JJ28

Predicted Effect

probably benign
Transcript: ENSMUST00000002889
AA Change: T615I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: T615I

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: ENSMUST00000052346

SMART Domains

Protein: ENSMUSP00000060749
Gene: ENSMUSG00000020536

Domain	Start	End	E-Value	Type
WD40	22	62	4.42e1	SMART
WD40	64	103	1.65e1	SMART
WD40	187	223	2.74e2	SMART
WD40	226	264	2.06e0	SMART
Pfam:LLGL	278	379	1.2e-43	PFAM
WD40	424	460	3.2e0	SMART
Blast:WD40	498	541	2e-13	BLAST
Blast:WD40	585	624	4e-9	BLAST
Pfam:Lgl_C	732	978	1.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108719

SMART Domains

Protein: ENSMUSP00000104359
Gene: ENSMUSG00000020536

Domain	Start	End	E-Value	Type
WD40	22	62	4.42e1	SMART
WD40	64	103	1.65e1	SMART
WD40	187	223	2.74e2	SMART
WD40	226	264	2.06e0	SMART
Pfam:LLGL	275	379	2e-48	PFAM
WD40	424	460	3.2e0	SMART
Blast:WD40	498	540	2e-13	BLAST
Blast:WD40	585	624	4e-9	BLAST
Pfam:Lgl_C	804	976	1.3e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	T	C	17: 84,983,667 (GRCm39)	D124G	possibly damaging	Het
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	possibly damaging	Het

Other mutations in Flii

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Flii	APN	11	60,614,241 (GRCm39)	missense	probably benign	0.03
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCACCTTGGATCTAGTGAGG -3'
(R):5'- GCCCTGTGCTCCAGTATATACC -3'

Sequencing Primer
(F):5'- ATCTAGTGAGGACCCTTTGAGG -3'
(R):5'- CCTGTTTAGAATAACTGTAGGTTTGC -3'

Posted On

2019-09-13