Mutagenetix > Incidental Mutation

Incidental Mutation 'R8821:Flii'

673056

Institutional Source

Beutler Lab

Gene Symbol

Flii

Ensembl Gene

ENSMUSG00000002812

Gene Name

flightless I actin binding protein

Synonyms

Fliih, 3632430F08Rik

MMRRC Submission

068654-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8821 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60604969-60618089 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60616074 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 28 (N28K)

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: N28K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: N28K

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

Meta Mutation Damage Score

0.1272

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A230072I06Rik	A	T	8: 12,329,688 (GRCm39)	I48L	unknown	Het
Abca8a	A	T	11: 109,949,362 (GRCm39)	I927K	probably damaging	Het
Abcc3	A	C	11: 94,241,787 (GRCm39)	C1415G	probably damaging	Het
Abcf3	C	T	16: 20,369,214 (GRCm39)	R205C	probably damaging	Het
Aldh3a1	A	G	11: 61,107,142 (GRCm39)	Y282C	probably damaging	Het
Alyref	CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG	CCCGCG	11: 120,489,023 (GRCm39)		probably null	Het
Arfgef3	A	G	10: 18,528,491 (GRCm39)	S299P	possibly damaging	Het
Asic2	A	T	11: 81,858,726 (GRCm39)	N95K	probably damaging	Het
Atp2c2	A	G	8: 120,476,033 (GRCm39)		probably null	Het
Btbd18	A	G	2: 84,497,601 (GRCm39)	D413G	probably damaging	Het
C8b	A	G	4: 104,647,874 (GRCm39)	Y355C	probably damaging	Het
Carm1	A	G	9: 21,491,663 (GRCm39)	E244G	probably damaging	Het
Castor2	T	A	5: 134,164,092 (GRCm39)	V96E	possibly damaging	Het
Catsperg1	A	T	7: 28,904,361 (GRCm39)		probably benign	Het
Cish	T	A	9: 107,177,671 (GRCm39)	F116I	probably damaging	Het
Ckmt1	G	A	2: 121,191,302 (GRCm39)		probably benign	Het
Clasrp	C	T	7: 19,320,362 (GRCm39)	R432H	unknown	Het
Clstn1	G	A	4: 149,730,780 (GRCm39)	R837Q	probably benign	Het
Col27a1	A	G	4: 63,143,148 (GRCm39)	T279A	probably benign	Het
Cox10	A	G	11: 63,855,306 (GRCm39)	F325S	probably damaging	Het
Cpne5	T	C	17: 29,430,668 (GRCm39)	I81V	probably benign	Het
Ctps1	A	T	4: 120,424,507 (GRCm39)	S36T	possibly damaging	Het
Dchs2	T	C	3: 83,192,670 (GRCm39)	L1705P	probably benign	Het
Dcstamp	A	G	15: 39,618,185 (GRCm39)	H198R	probably benign	Het
Dhx58	T	A	11: 100,594,806 (GRCm39)	K30M	probably damaging	Het
Dnah1	C	T	14: 31,018,455 (GRCm39)	A1392T	probably benign	Het
Dnah14	C	A	1: 181,619,569 (GRCm39)	Y3964*	probably null	Het
Dnah8	T	C	17: 31,013,712 (GRCm39)	S3818P	probably damaging	Het
Dnmt3b	T	A	2: 153,518,734 (GRCm39)	N632K	probably benign	Het
Drc7	G	A	8: 95,788,845 (GRCm39)	R301Q	probably damaging	Het
Dsg1a	T	C	18: 20,453,365 (GRCm39)	V21A	probably damaging	Het
Dtd1	T	C	2: 144,459,261 (GRCm39)	L95P	probably benign	Het
Efhb	A	T	17: 53,707,772 (GRCm39)		probably benign	Het
Fam186b	T	A	15: 99,178,733 (GRCm39)	M198L	possibly damaging	Het
Fam193a	A	G	5: 34,616,374 (GRCm39)	T850A	probably benign	Het
Fan1	G	A	7: 64,004,249 (GRCm39)	P739L	probably damaging	Het
Fmo3	T	C	1: 162,796,407 (GRCm39)	Y55C	probably damaging	Het
Gfi1	G	A	5: 107,868,138 (GRCm39)	R377C	probably damaging	Het
Gm9195	C	T	14: 72,717,536 (GRCm39)	E266K	possibly damaging	Het
Hdac1-ps	T	A	17: 78,799,969 (GRCm39)	L320Q	probably damaging	Het
Helz	A	T	11: 107,525,919 (GRCm39)	M825L	probably damaging	Het
Hsd3b9	A	T	3: 98,354,047 (GRCm39)	W151R	probably benign	Het
Ift80	G	A	3: 68,869,583 (GRCm39)	A236V	probably damaging	Het
Il1rn	A	T	2: 24,239,505 (GRCm39)	T134S	possibly damaging	Het
Imp4	T	C	1: 34,483,445 (GRCm39)	M257T	probably benign	Het
Impdh2	T	C	9: 108,441,957 (GRCm39)	L377S	probably damaging	Het
Kcnrg	T	C	14: 61,844,981 (GRCm39)	V7A	possibly damaging	Het
Kdm1b	C	A	13: 47,217,617 (GRCm39)	L359I	possibly damaging	Het
Lima1	T	A	15: 99,704,306 (GRCm39)	T288S	probably benign	Het
Lrrc37	A	T	11: 103,510,470 (GRCm39)	D499E	unknown	Het
Lrrc4c	A	T	2: 97,460,040 (GRCm39)	D222V	possibly damaging	Het
Mybpc3	T	A	2: 90,948,524 (GRCm39)	V4E	probably null	Het
Ncor1	A	T	11: 62,260,234 (GRCm39)	D505E	probably benign	Het
Nell1	A	G	7: 50,476,097 (GRCm39)	S579G	probably damaging	Het
Npc1	T	A	18: 12,333,877 (GRCm39)	M735L	probably benign	Het
Or1j13	G	A	2: 36,369,794 (GRCm39)	T116I	possibly damaging	Het
Or2at4	A	G	7: 99,384,893 (GRCm39)	H181R	possibly damaging	Het
Or4a73	A	G	2: 89,420,880 (GRCm39)	I193T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,386 (GRCm39)	M511V	probably benign	Het
Peli2	G	A	14: 48,490,130 (GRCm39)	E201K	possibly damaging	Het
Phf3	T	A	1: 30,860,347 (GRCm39)	K828*	probably null	Het
Pih1d1	A	G	7: 44,806,196 (GRCm39)	D44G	possibly damaging	Het
Prag1	A	T	8: 36,613,891 (GRCm39)	T1148S	probably benign	Het
Ptpn18	A	T	1: 34,511,271 (GRCm39)	R338W	probably null	Het
Slc7a6os	A	T	8: 106,937,189 (GRCm39)	D90E	probably benign	Het
Sp7	T	A	15: 102,267,227 (GRCm39)	H211L	possibly damaging	Het
Ssh3	A	G	19: 4,319,053 (GRCm39)	V19A	possibly damaging	Het
Tcp11l2	A	G	10: 84,449,522 (GRCm39)	I496V	probably damaging	Het
Tenm3	C	T	8: 48,729,417 (GRCm39)	A1530T		Het
Tmem232	A	G	17: 65,743,367 (GRCm39)	L308P	probably damaging	Het
Tulp4	A	G	17: 6,189,409 (GRCm39)	N77S	probably damaging	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Usp48	A	T	4: 137,341,080 (GRCm39)	D360V	probably damaging	Het
Vmn2r84	G	A	10: 130,226,968 (GRCm39)	A290V	probably benign	Het
Zfp1007	A	T	5: 109,824,174 (GRCm39)	S425R	probably benign	Het
Zfp512b	T	C	2: 181,228,525 (GRCm39)	N738S	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
R7698:Flii	UTSW	11	60,610,918 (GRCm39)	missense	probably damaging	1.00
R8485:Flii	UTSW	11	60,607,063 (GRCm39)	missense	probably benign
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'- AGCCCTGTAACTGCACCATC -3'
(R):5'- AGCTGGAGAGACACGTTTGG -3'

Sequencing Primer
(F):5'- CTGTAACTGCACCATCTGGGAAG -3'
(R):5'- ACACGTTTGGGCCAGGATG -3'

Posted On

2021-04-30