Mutagenetix > Incidental Mutation

Incidental Mutation 'R7698:Flii'

593792

Institutional Source

Beutler Lab

Gene Symbol

Flii

Ensembl Gene

ENSMUSG00000002812

Gene Name

flightless I actin binding protein

Synonyms

Fliih, 3632430F08Rik

MMRRC Submission

045759-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7698 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60604969-60618089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60610918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 504 (W504R)

Ref Sequence

ENSEMBL: ENSMUSP00000002889 (fasta)

Gene Model

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

AlphaFold

Q9JJ28

Predicted Effect

probably damaging
Transcript: ENSMUST00000002889
AA Change: W504R

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

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: W504R

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: 99.7%
20x: 99.2%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630023A22Rik	C	A	14: 33,774,570 (GRCm39)	L140F	unknown	Het
Actn1	T	C	12: 80,221,311 (GRCm39)	T581A	probably benign	Het
Ak9	T	C	10: 41,224,072 (GRCm39)	L495S		Het
Aldh5a1	T	C	13: 25,095,731 (GRCm39)	D462G	probably damaging	Het
Amz2	A	G	11: 109,319,833 (GRCm39)	D73G	probably damaging	Het
Ank2	A	G	3: 126,825,860 (GRCm39)	Y361H	probably benign	Het
Atp8b1	A	G	18: 64,704,093 (GRCm39)	Y342H	probably benign	Het
Atp8b5	C	T	4: 43,366,735 (GRCm39)	T833I	probably benign	Het
Camkk2	A	G	5: 122,884,482 (GRCm39)	I313T	probably damaging	Het
Cdk18	T	C	1: 132,050,116 (GRCm39)	T20A	probably damaging	Het
Cenpf	A	T	1: 189,394,269 (GRCm39)	C479S	probably benign	Het
Cfap221	C	A	1: 119,889,659 (GRCm39)	E192*	probably null	Het
Cfap44	C	T	16: 44,254,149 (GRCm39)	H958Y	probably damaging	Het
Cic	A	T	7: 24,972,597 (GRCm39)	Q776L	possibly damaging	Het
Cldn17	C	A	16: 88,303,244 (GRCm39)	G162*	probably null	Het
Col19a1	T	A	1: 24,351,159 (GRCm39)	Y748F	probably benign	Het
Col27a1	C	T	4: 63,143,955 (GRCm39)	P548S	possibly damaging	Het
Cracdl	T	G	1: 37,664,452 (GRCm39)	E482A	probably benign	Het
Ctsr	T	A	13: 61,310,381 (GRCm39)	M92L	probably benign	Het
Cyp2d12	T	C	15: 82,443,171 (GRCm39)	V360A	probably benign	Het
Defa34	G	T	8: 22,156,645 (GRCm39)	C91F	probably damaging	Het
Dennd2c	G	A	3: 103,072,359 (GRCm39)	V815I	possibly damaging	Het
Dlgap4	C	T	2: 156,591,015 (GRCm39)	Q734*	probably null	Het
Dph1	A	T	11: 75,081,267 (GRCm39)	S7T	probably benign	Het
Dpp8	T	C	9: 64,949,618 (GRCm39)	V121A	probably benign	Het
Dst	G	A	1: 34,229,468 (GRCm39)	G2354S	probably benign	Het
Duox2	A	T	2: 122,111,245 (GRCm39)	L1453Q	probably damaging	Het
Ecpas	C	G	4: 58,832,660 (GRCm39)	C900S	unknown	Het
Exosc10	T	A	4: 148,642,955 (GRCm39)	S11T	probably benign	Het
Fetub	A	G	16: 22,758,059 (GRCm39)	T281A	probably benign	Het
Gm5093	T	C	17: 46,750,866 (GRCm39)	R54G	possibly damaging	Het
Gmcl1	T	C	6: 86,684,397 (GRCm39)	D375G	probably benign	Het
Hikeshi	A	T	7: 89,572,889 (GRCm39)	N101K	probably benign	Het
Hmcn2	T	C	2: 31,313,165 (GRCm39)	V3458A	probably damaging	Het
Hspa2	A	G	12: 76,452,083 (GRCm39)	N259S	possibly damaging	Het
Irf6	T	C	1: 192,844,075 (GRCm39)	I110T	probably damaging	Het
Kcnj8	T	A	6: 142,511,479 (GRCm39)	H376L	probably damaging	Het
Kdm6b	G	A	11: 69,296,807 (GRCm39)	P487S	probably benign	Het
Lcp1	C	A	14: 75,443,651 (GRCm39)	Y222*	probably null	Het
Manea	T	C	4: 26,327,763 (GRCm39)	D426G	probably damaging	Het
Map3k20	G	T	2: 72,195,025 (GRCm39)	E101*	probably null	Het
Map3k20	C	G	2: 72,268,658 (GRCm39)	S555C	probably benign	Het
Mtmr7	G	A	8: 41,059,927 (GRCm39)	A62V	possibly damaging	Het
Myo6	C	T	9: 80,124,938 (GRCm39)	P6S	unknown	Het
Myoc	A	T	1: 162,467,014 (GRCm39)	Q61L	probably damaging	Het
N4bp2	T	A	5: 65,965,500 (GRCm39)	M1183K	probably benign	Het
Or52e7	T	A	7: 104,685,114 (GRCm39)	H236Q	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,404 (GRCm39)	F26S	probably damaging	Het
Or5b21	T	C	19: 12,840,077 (GRCm39)	S313P	possibly damaging	Het
Or8b40	T	A	9: 38,027,188 (GRCm39)	L37*	probably null	Het
Osbpl11	C	G	16: 33,054,817 (GRCm39)	N633K	probably benign	Het
Pate7	T	C	9: 35,688,472 (GRCm39)	M38V	probably benign	Het
Pcdhgb5	A	G	18: 37,865,684 (GRCm39)	E493G	probably damaging	Het
Phf20	T	A	2: 156,136,058 (GRCm39)	W626R	probably damaging	Het
Pkp2	C	A	16: 16,058,523 (GRCm39)	Q402K	probably benign	Het
Plch2	C	T	4: 155,087,244 (GRCm39)	D336N	possibly damaging	Het
Plk1	T	C	7: 121,768,481 (GRCm39)	F535L	probably damaging	Het
Ppp1r9a	A	T	6: 4,906,430 (GRCm39)	E328D	probably benign	Het
Prss44	G	A	9: 110,646,379 (GRCm39)	V369M	probably benign	Het
Rilp	A	G	11: 75,401,798 (GRCm39)	S193G	probably benign	Het
Rusc2	C	T	4: 43,414,900 (GRCm39)	Q69*	probably null	Het
Ryr2	T	C	13: 11,776,201 (GRCm39)	D1112G	possibly damaging	Het
Smc6	A	G	12: 11,333,141 (GRCm39)	R238G	possibly damaging	Het
Spen	A	G	4: 141,200,156 (GRCm39)	S2824P	probably damaging	Het
Stk4	T	C	2: 163,925,663 (GRCm39)	M77T	probably damaging	Het
Syne2	A	T	12: 75,995,838 (GRCm39)	H2126L	probably damaging	Het
Thsd1	C	T	8: 22,749,003 (GRCm39)	R625*	probably null	Het
Tle3	A	T	9: 61,320,138 (GRCm39)	N522I	probably damaging	Het
Tmcc1	C	A	6: 116,020,763 (GRCm39)	E230*	probably null	Het
Vmn2r90	T	C	17: 17,953,596 (GRCm39)	S587P	probably benign	Het
Wt1	A	T	2: 104,957,161 (GRCm39)	Q7L	probably benign	Het
Zfhx2	T	C	14: 55,300,306 (GRCm39)	I2482V	probably benign	Het
Zfpm2	A	T	15: 40,959,487 (GRCm39)	I189F	probably benign	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
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
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'- TCATCCAGGAAGGTCTGAGG -3'
(R):5'- GGCCAGTCTTAGTGTCTCAG -3'

Sequencing Primer
(F):5'- TCTGAGGAGACCAAGTAATCAGCC -3'
(R):5'- CCAGTCTTAGTGTCTCAGTAGAGTC -3'

Posted On

2019-11-12