Incidental Mutation 'IGL00331:Flii'
ID |
4585 |
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)
|
Stock # |
IGL00331
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60606659 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 1061
(I1061T)
|
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: I1061T
PolyPhen 2
Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000002889 Gene: ENSMUSG00000002812 AA Change: I1061T
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154141
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
C |
A |
1: 74,320,595 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
T |
A |
18: 59,140,397 (GRCm39) |
|
probably benign |
Het |
Afg3l1 |
T |
A |
8: 124,214,128 (GRCm39) |
F190I |
probably benign |
Het |
Alms1 |
T |
A |
6: 85,618,353 (GRCm39) |
S2800T |
possibly damaging |
Het |
Alox5 |
A |
T |
6: 116,392,478 (GRCm39) |
W348R |
probably damaging |
Het |
Atp13a5 |
G |
A |
16: 29,085,766 (GRCm39) |
Q823* |
probably null |
Het |
Atp6v1b2 |
T |
C |
8: 69,541,586 (GRCm39) |
|
probably null |
Het |
Chuk |
T |
C |
19: 44,076,462 (GRCm39) |
I416M |
possibly damaging |
Het |
Cimip2b |
G |
A |
4: 43,428,158 (GRCm39) |
R100W |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,701,020 (GRCm39) |
Q1066L |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,421,766 (GRCm39) |
T3873A |
probably damaging |
Het |
Endog |
C |
T |
2: 30,062,912 (GRCm39) |
T184M |
probably damaging |
Het |
Fcgbp |
T |
C |
7: 27,800,966 (GRCm39) |
|
probably benign |
Het |
Hdac2 |
T |
A |
10: 36,873,067 (GRCm39) |
N308K |
probably damaging |
Het |
Hoxa2 |
T |
G |
6: 52,140,497 (GRCm39) |
Y163S |
probably damaging |
Het |
Hsd3b7 |
T |
C |
7: 127,402,144 (GRCm39) |
L263P |
probably damaging |
Het |
Klf17 |
T |
C |
4: 117,618,235 (GRCm39) |
T41A |
probably benign |
Het |
Lrrfip1 |
T |
C |
1: 90,996,343 (GRCm39) |
M42T |
probably damaging |
Het |
Mapk8ip1 |
C |
T |
2: 92,215,533 (GRCm39) |
V614I |
probably benign |
Het |
Mocs1 |
T |
G |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
Moxd1 |
T |
C |
10: 24,158,453 (GRCm39) |
|
probably benign |
Het |
Mterf1a |
T |
C |
5: 3,941,610 (GRCm39) |
E86G |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,574,613 (GRCm39) |
D1021G |
probably benign |
Het |
Nomo1 |
T |
C |
7: 45,694,760 (GRCm39) |
S212P |
possibly damaging |
Het |
Or5b116 |
A |
G |
19: 13,422,988 (GRCm39) |
D204G |
probably benign |
Het |
Or8c15 |
T |
A |
9: 38,120,534 (GRCm39) |
Y60N |
probably damaging |
Het |
Phf21a |
A |
C |
2: 92,178,374 (GRCm39) |
T385P |
probably damaging |
Het |
Piwil4 |
A |
T |
9: 14,626,327 (GRCm39) |
|
probably benign |
Het |
Pknox1 |
T |
C |
17: 31,818,619 (GRCm39) |
|
probably null |
Het |
Prr14l |
T |
C |
5: 32,988,410 (GRCm39) |
I362V |
probably benign |
Het |
Sergef |
C |
T |
7: 46,284,844 (GRCm39) |
|
probably null |
Het |
Sez6l |
T |
C |
5: 112,572,511 (GRCm39) |
D948G |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,053,723 (GRCm39) |
L54Q |
probably damaging |
Het |
Sntn |
C |
T |
14: 13,679,086 (GRCm38) |
Q87* |
probably null |
Het |
Syde2 |
A |
G |
3: 145,720,096 (GRCm39) |
K772E |
possibly damaging |
Het |
Taf2 |
T |
A |
15: 54,934,845 (GRCm39) |
|
probably null |
Het |
Tbc1d13 |
T |
A |
2: 30,030,523 (GRCm39) |
Y113N |
probably damaging |
Het |
Tmem154 |
T |
C |
3: 84,591,722 (GRCm39) |
F91L |
probably benign |
Het |
Tmem63a |
A |
G |
1: 180,794,062 (GRCm39) |
D533G |
possibly damaging |
Het |
Tmprss15 |
A |
T |
16: 78,782,882 (GRCm39) |
N712K |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,708,262 (GRCm39) |
D603E |
probably damaging |
Het |
Trmt11 |
T |
C |
10: 30,442,445 (GRCm39) |
D246G |
probably damaging |
Het |
Vmn1r174 |
T |
A |
7: 23,453,958 (GRCm39) |
M208K |
possibly damaging |
Het |
Wdr54 |
T |
C |
6: 83,132,755 (GRCm39) |
H33R |
probably benign |
Het |
Zfp207 |
A |
G |
11: 80,279,828 (GRCm39) |
D111G |
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 |
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 |
2012-04-20 |