Incidental Mutation 'R6009:Flii'
| ID |
479664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flii
|
| Ensembl Gene |
ENSMUSG00000002812 |
| Gene Name |
flightless I actin binding protein |
| Synonyms |
Fliih, 3632430F08Rik |
| MMRRC Submission |
044186-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 60611583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 376
(L376*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
|
| AlphaFold |
Q9JJ28 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000002889
AA Change: L376*
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: L376*
| 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 |
noncoding transcript
Transcript: ENSMUST00000137226
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154465
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.3%
- 20x: 91.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,700,454 (GRCm39) |
|
probably benign |
Het |
| Afap1 |
T |
C |
5: 36,154,904 (GRCm39) |
S683P |
probably damaging |
Het |
| Chid1 |
T |
A |
7: 141,109,493 (GRCm39) |
D131V |
probably damaging |
Het |
| Clstn2 |
C |
T |
9: 97,338,579 (GRCm39) |
R860Q |
probably benign |
Het |
| Crlf1 |
A |
C |
8: 70,956,129 (GRCm39) |
K403T |
probably damaging |
Het |
| Ctdspl2 |
T |
G |
2: 121,819,319 (GRCm39) |
N201K |
probably benign |
Het |
| Cyb561a3 |
G |
A |
19: 10,564,172 (GRCm39) |
V171I |
possibly damaging |
Het |
| Dazap1 |
T |
C |
10: 80,121,138 (GRCm39) |
|
probably benign |
Het |
| Dbf4 |
G |
T |
5: 8,453,718 (GRCm39) |
Q235K |
probably damaging |
Het |
| Dgka |
C |
T |
10: 128,559,548 (GRCm39) |
G471D |
probably damaging |
Het |
| Fam13b |
A |
T |
18: 34,630,458 (GRCm39) |
F100Y |
possibly damaging |
Het |
| Fnip1 |
G |
T |
11: 54,393,097 (GRCm39) |
G487V |
probably damaging |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,735,321 (GRCm39) |
A1523S |
probably damaging |
Het |
| Gstm4 |
A |
G |
3: 107,950,659 (GRCm39) |
V114A |
possibly damaging |
Het |
| Gtf3c1 |
A |
G |
7: 125,246,602 (GRCm39) |
F1569S |
possibly damaging |
Het |
| Gtf3c5 |
A |
T |
2: 28,461,177 (GRCm39) |
D312E |
probably benign |
Het |
| Gtpbp1 |
G |
A |
15: 79,596,297 (GRCm39) |
V149M |
probably damaging |
Het |
| Hoxa7 |
C |
T |
6: 52,194,367 (GRCm39) |
V7M |
probably damaging |
Het |
| Il17f |
C |
T |
1: 20,849,510 (GRCm39) |
|
probably null |
Het |
| Ints9 |
T |
C |
14: 65,245,531 (GRCm39) |
V263A |
probably benign |
Het |
| Kansl1l |
C |
T |
1: 66,774,759 (GRCm39) |
C689Y |
probably benign |
Het |
| Kctd7 |
G |
A |
5: 130,174,039 (GRCm39) |
G39E |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,453,540 (GRCm39) |
D282V |
probably benign |
Het |
| Lemd1 |
G |
T |
1: 132,155,990 (GRCm39) |
E11* |
probably null |
Het |
| Maml2 |
A |
G |
9: 13,532,294 (GRCm39) |
T503A |
probably benign |
Het |
| Mief2 |
A |
G |
11: 60,622,485 (GRCm39) |
T352A |
probably benign |
Het |
| Msantd1 |
C |
A |
5: 35,075,049 (GRCm39) |
T37K |
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,243,462 (GRCm39) |
E94G |
probably damaging |
Het |
| Naaa |
A |
T |
5: 92,407,440 (GRCm39) |
L353Q |
probably benign |
Het |
| Nek5 |
T |
C |
8: 22,610,838 (GRCm39) |
E55G |
probably benign |
Het |
| Npat |
T |
C |
9: 53,474,749 (GRCm39) |
M847T |
probably damaging |
Het |
| Nus1 |
G |
A |
10: 52,309,539 (GRCm39) |
V268I |
probably benign |
Het |
| Or51r1 |
A |
G |
7: 102,227,801 (GRCm39) |
N33S |
possibly damaging |
Het |
| Parn |
C |
T |
16: 13,485,428 (GRCm39) |
D23N |
probably damaging |
Het |
| Pdgfa |
T |
C |
5: 138,964,954 (GRCm39) |
E176G |
probably damaging |
Het |
| Plcl1 |
T |
A |
1: 55,735,405 (GRCm39) |
F249I |
probably damaging |
Het |
| Plscr5 |
C |
T |
9: 92,086,488 (GRCm39) |
Q153* |
probably null |
Het |
| Polr2b |
T |
C |
5: 77,468,099 (GRCm39) |
I133T |
probably benign |
Het |
| Polr3c |
A |
G |
3: 96,620,930 (GRCm39) |
S463P |
probably damaging |
Het |
| Pprc1 |
A |
T |
19: 46,060,171 (GRCm39) |
I1530L |
probably damaging |
Het |
| Prex1 |
C |
T |
2: 166,423,904 (GRCm39) |
S996N |
probably damaging |
Het |
| Rnf169 |
C |
A |
7: 99,576,330 (GRCm39) |
R291S |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,087,480 (GRCm39) |
K127R |
probably damaging |
Het |
| Slc25a26 |
G |
T |
6: 94,487,807 (GRCm39) |
V89L |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 61,877,034 (GRCm39) |
T16A |
probably benign |
Het |
| Smchd1 |
A |
T |
17: 71,747,951 (GRCm39) |
H430Q |
probably damaging |
Het |
| Ttll7 |
A |
T |
3: 146,640,290 (GRCm39) |
D503V |
probably damaging |
Het |
| Vav2 |
A |
T |
2: 27,161,912 (GRCm39) |
|
probably null |
Het |
| Zbtb47 |
T |
C |
9: 121,591,937 (GRCm39) |
S86P |
possibly damaging |
Het |
| Zfp345 |
A |
T |
2: 150,314,437 (GRCm39) |
C367S |
probably damaging |
Het |
| Zfp964 |
T |
A |
8: 70,116,106 (GRCm39) |
H235Q |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGCTACTGGACATACAGCC -3'
(R):5'- CCTTTGTGTCTGTCACTGAAGC -3'
Sequencing Primer
(F):5'- TACTGGACATACAGCCCGAGG -3'
(R):5'- TGTCACTGAAGCCCCACAGG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation