Incidental Mutation 'R3876:Flii'
| ID |
276856 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flii
|
| Ensembl Gene |
ENSMUSG00000002812 |
| Gene Name |
flightless I actin binding protein |
| Synonyms |
Fliih, 3632430F08Rik |
| MMRRC Submission |
041606-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3876 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60714123-60727263 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60719872 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 533
(T533A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
|
| AlphaFold |
Q9JJ28 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002889
AA Change: T533A
PolyPhen 2
Score 0.849 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: T533A
| 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 |
0.5323 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
G |
A |
14: 54,591,400 (GRCm38) |
R215* |
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,246,846 (GRCm38) |
L568F |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 86,152,790 (GRCm38) |
Y316C |
probably damaging |
Het |
| Cdk5rap2 |
ATGTG |
ATG |
4: 70,289,977 (GRCm38) |
|
probably null |
Het |
| Cfap69 |
G |
T |
5: 5,584,645 (GRCm38) |
|
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 55,043,898 (GRCm38) |
E27G |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,268,644 (GRCm38) |
V64A |
possibly damaging |
Het |
| Crygs |
A |
G |
16: 22,806,512 (GRCm38) |
Y60H |
probably damaging |
Het |
| Dpp10 |
T |
A |
1: 123,353,487 (GRCm38) |
Q611L |
probably damaging |
Het |
| Entpd1 |
T |
C |
19: 40,736,820 (GRCm38) |
L450P |
probably damaging |
Het |
| Eogt |
G |
A |
6: 97,120,190 (GRCm38) |
S317L |
probably damaging |
Het |
| Exosc10 |
T |
A |
4: 148,572,919 (GRCm38) |
S584T |
probably benign |
Het |
| Fam184a |
C |
T |
10: 53,699,061 (GRCm38) |
V151I |
probably damaging |
Het |
| Fbxo43 |
A |
G |
15: 36,152,112 (GRCm38) |
V517A |
probably damaging |
Het |
| Frmpd1 |
T |
G |
4: 45,284,093 (GRCm38) |
H971Q |
probably benign |
Het |
| Gata3 |
A |
T |
2: 9,863,143 (GRCm38) |
N333K |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,768,730 (GRCm38) |
S1525P |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,718,426 (GRCm38) |
I816T |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 87,089,151 (GRCm38) |
M380I |
probably null |
Het |
| Krt34 |
T |
C |
11: 100,040,965 (GRCm38) |
T143A |
probably benign |
Het |
| Lipn |
G |
T |
19: 34,069,428 (GRCm38) |
M43I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,445,194 (GRCm38) |
C779R |
probably damaging |
Het |
| Mios |
G |
A |
6: 8,233,189 (GRCm38) |
R779Q |
probably damaging |
Het |
| Mme |
A |
T |
3: 63,362,059 (GRCm38) |
|
probably benign |
Het |
| Ncstn |
A |
G |
1: 172,070,073 (GRCm38) |
S418P |
probably benign |
Het |
| Oprk1 |
T |
A |
1: 5,602,661 (GRCm38) |
C340* |
probably null |
Het |
| Or10d1c |
T |
A |
9: 38,982,870 (GRCm38) |
Y58F |
probably damaging |
Het |
| Or4c29 |
T |
C |
2: 88,909,608 (GRCm38) |
T262A |
possibly damaging |
Het |
| Or4k39 |
T |
C |
2: 111,408,622 (GRCm38) |
V69A |
possibly damaging |
Het |
| Or6c210 |
C |
T |
10: 129,660,274 (GRCm38) |
P156L |
probably benign |
Het |
| Or6z7 |
G |
A |
7: 6,481,132 (GRCm38) |
A8V |
probably benign |
Het |
| Pald1 |
T |
A |
10: 61,347,487 (GRCm38) |
N323Y |
probably damaging |
Het |
| Pcdhac1 |
C |
A |
18: 37,091,892 (GRCm38) |
A586E |
probably damaging |
Het |
| Pcnx2 |
C |
T |
8: 125,888,158 (GRCm38) |
A185T |
probably benign |
Het |
| Pik3r1 |
G |
A |
13: 101,684,957 (GRCm38) |
H430Y |
probably benign |
Het |
| Polr3b |
G |
A |
10: 84,720,518 (GRCm38) |
|
probably null |
Het |
| Prl8a6 |
A |
T |
13: 27,433,032 (GRCm38) |
L225* |
probably null |
Het |
| Psme4 |
T |
C |
11: 30,856,068 (GRCm38) |
S89P |
probably damaging |
Het |
| Pygl |
G |
A |
12: 70,201,339 (GRCm38) |
T250I |
probably damaging |
Het |
| Rgs13 |
T |
A |
1: 144,140,790 (GRCm38) |
K72* |
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,588,159 (GRCm38) |
I4514F |
probably damaging |
Het |
| Septin3 |
A |
T |
15: 82,285,801 (GRCm38) |
D32V |
probably damaging |
Het |
| Sfrp2 |
C |
T |
3: 83,767,028 (GRCm38) |
P163S |
possibly damaging |
Het |
| Spata31 |
A |
G |
13: 64,920,931 (GRCm38) |
T298A |
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,633,369 (GRCm38) |
|
probably null |
Het |
| Syne1 |
A |
T |
10: 5,052,345 (GRCm38) |
M282K |
possibly damaging |
Het |
| Timd2 |
T |
C |
11: 46,671,020 (GRCm38) |
|
probably null |
Het |
| Tlr11 |
G |
A |
14: 50,363,154 (GRCm38) |
V866I |
probably benign |
Het |
| Trappc10 |
T |
C |
10: 78,220,186 (GRCm38) |
|
probably null |
Het |
| Zfp512b |
AG |
AGG |
2: 181,588,763 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Flii |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Flii
|
APN |
11 |
60,723,415 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00331:Flii
|
APN |
11 |
60,715,833 (GRCm38) |
missense |
probably benign |
0.40 |
|
IGL01530:Flii
|
APN |
11 |
60,720,182 (GRCm38) |
nonsense |
probably null |
|
|
IGL01678:Flii
|
APN |
11 |
60,716,846 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01938:Flii
|
APN |
11 |
60,715,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02211:Flii
|
APN |
11 |
60,718,298 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02626:Flii
|
APN |
11 |
60,719,859 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL03038:Flii
|
APN |
11 |
60,724,832 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL03412:Flii
|
APN |
11 |
60,722,640 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0135:Flii
|
UTSW |
11 |
60,723,378 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0350:Flii
|
UTSW |
11 |
60,721,857 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0355:Flii
|
UTSW |
11 |
60,719,680 (GRCm38) |
splice site |
probably null |
|
|
R0524:Flii
|
UTSW |
11 |
60,720,061 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0636:Flii
|
UTSW |
11 |
60,715,552 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0639:Flii
|
UTSW |
11 |
60,722,997 (GRCm38) |
splice site |
probably null |
|
|
R1515:Flii
|
UTSW |
11 |
60,721,606 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1544:Flii
|
UTSW |
11 |
60,719,692 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1782:Flii
|
UTSW |
11 |
60,714,636 (GRCm38) |
missense |
probably benign |
|
|
R2922:Flii
|
UTSW |
11 |
60,718,916 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3691:Flii
|
UTSW |
11 |
60,719,757 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3753:Flii
|
UTSW |
11 |
60,715,480 (GRCm38) |
missense |
probably benign |
|
|
R3875:Flii
|
UTSW |
11 |
60,720,492 (GRCm38) |
missense |
probably benign |
|
|
R3924:Flii
|
UTSW |
11 |
60,720,076 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4621:Flii
|
UTSW |
11 |
60,716,111 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4789:Flii
|
UTSW |
11 |
60,715,093 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5153:Flii
|
UTSW |
11 |
60,716,686 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5326:Flii
|
UTSW |
11 |
60,718,862 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5340:Flii
|
UTSW |
11 |
60,717,268 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5364:Flii
|
UTSW |
11 |
60,720,128 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5542:Flii
|
UTSW |
11 |
60,718,862 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5592:Flii
|
UTSW |
11 |
60,720,399 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5859:Flii
|
UTSW |
11 |
60,716,311 (GRCm38) |
nonsense |
probably null |
|
|
R5968:Flii
|
UTSW |
11 |
60,720,212 (GRCm38) |
missense |
probably benign |
|
|
R6009:Flii
|
UTSW |
11 |
60,720,757 (GRCm38) |
nonsense |
probably null |
|
|
R6287:Flii
|
UTSW |
11 |
60,721,597 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6368:Flii
|
UTSW |
11 |
60,721,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6997:Flii
|
UTSW |
11 |
60,722,325 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7099:Flii
|
UTSW |
11 |
60,720,655 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7324:Flii
|
UTSW |
11 |
60,719,040 (GRCm38) |
missense |
probably benign |
|
|
R7366:Flii
|
UTSW |
11 |
60,721,119 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R7371:Flii
|
UTSW |
11 |
60,718,264 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7571:Flii
|
UTSW |
11 |
60,721,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7669:Flii
|
UTSW |
11 |
60,722,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7677:Flii
|
UTSW |
11 |
60,720,145 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7698:Flii
|
UTSW |
11 |
60,720,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8485:Flii
|
UTSW |
11 |
60,716,237 (GRCm38) |
missense |
probably benign |
|
|
R8821:Flii
|
UTSW |
11 |
60,725,248 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8831:Flii
|
UTSW |
11 |
60,725,248 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8839:Flii
|
UTSW |
11 |
60,718,607 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9380:Flii
|
UTSW |
11 |
60,715,471 (GRCm38) |
missense |
probably benign |
0.23 |
|
R9448:Flii
|
UTSW |
11 |
60,715,567 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9598:Flii
|
UTSW |
11 |
60,727,165 (GRCm38) |
missense |
probably benign |
0.01 |
|
RF011:Flii
|
UTSW |
11 |
60,716,243 (GRCm38) |
missense |
probably benign |
0.04 |
|
X0025:Flii
|
UTSW |
11 |
60,721,708 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
Z1176:Flii
|
UTSW |
11 |
60,722,313 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTACATGTGGCCCGAGTTC -3'
(R):5'- CCATGGCAAGTTCTACGAGG -3'
Sequencing Primer
(F):5'- TGCACCTGCAGGAACTCCTC -3'
(R):5'- AAGTTCTACGAGGCTGACTGCTAC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation