Incidental Mutation 'R5968:Flii'
ID |
470702 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flii
|
Ensembl Gene |
ENSMUSG00000002812 |
Gene Name |
flightless I actin binding protein |
Synonyms |
Fliih, 3632430F08Rik |
MMRRC Submission |
043249-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5968 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 60611038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 464
(I464L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
|
AlphaFold |
Q9JJ28 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002889
AA Change: I464L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002889 Gene: ENSMUSG00000002812 AA Change: I464L
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.8%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
T |
C |
17: 46,621,077 (GRCm39) |
T978A |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,116,606 (GRCm39) |
L638P |
probably damaging |
Het |
Adgrf2 |
A |
G |
17: 43,026,063 (GRCm39) |
|
probably null |
Het |
Anxa6 |
T |
C |
11: 54,885,167 (GRCm39) |
I461V |
probably damaging |
Het |
Arap1 |
T |
C |
7: 101,043,945 (GRCm39) |
L668P |
probably damaging |
Het |
Ces2e |
G |
T |
8: 105,659,627 (GRCm39) |
G498W |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,739 (GRCm39) |
C823R |
probably damaging |
Het |
Ehmt1 |
C |
T |
2: 24,726,469 (GRCm39) |
R772H |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,074,587 (GRCm39) |
L721S |
probably benign |
Het |
Gm57858 |
T |
C |
3: 36,064,840 (GRCm39) |
Q511R |
probably benign |
Het |
Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,418,828 (GRCm39) |
E1162G |
probably damaging |
Het |
Meioc |
A |
G |
11: 102,566,657 (GRCm39) |
S758G |
probably damaging |
Het |
Ndst1 |
A |
C |
18: 60,846,148 (GRCm39) |
S54A |
probably benign |
Het |
Ndufaf8 |
G |
T |
11: 119,990,055 (GRCm39) |
E56* |
probably null |
Het |
Ndufb7 |
A |
G |
8: 84,293,530 (GRCm39) |
D28G |
probably benign |
Het |
Or1e16 |
T |
C |
11: 73,286,018 (GRCm39) |
M277V |
possibly damaging |
Het |
Or2a25 |
A |
G |
6: 42,888,480 (GRCm39) |
I8V |
probably benign |
Het |
Prkg1 |
A |
T |
19: 30,570,324 (GRCm39) |
F443I |
probably damaging |
Het |
Pspc1 |
C |
T |
14: 57,001,693 (GRCm39) |
R227H |
probably benign |
Het |
Ptpn21 |
A |
G |
12: 98,677,149 (GRCm39) |
Y120H |
probably damaging |
Het |
Runx1t1 |
A |
T |
4: 13,841,890 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
C |
2: 112,477,394 (GRCm39) |
D4449G |
probably benign |
Het |
Sacs |
C |
A |
14: 61,427,078 (GRCm39) |
A159E |
probably damaging |
Het |
Slc16a14 |
T |
C |
1: 84,890,226 (GRCm39) |
I360V |
possibly damaging |
Het |
Tcstv5 |
T |
C |
13: 120,411,618 (GRCm39) |
|
probably benign |
Het |
Thop1 |
A |
G |
10: 80,911,393 (GRCm39) |
D93G |
probably benign |
Het |
Tmem92 |
A |
C |
11: 94,669,564 (GRCm39) |
M85R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,688,017 (GRCm39) |
|
probably benign |
Het |
Zdhhc5 |
T |
C |
2: 84,524,719 (GRCm39) |
|
probably null |
Het |
Zfp335 |
T |
C |
2: 164,734,314 (GRCm39) |
H1291R |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,451,496 (GRCm39) |
C101Y |
probably 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGAGCACAATGTAGCAGTCAG -3'
(R):5'- AAGGGCATGTCAGATGTTGC -3'
Sequencing Primer
(F):5'- CCTCGTAGAACTTGCCATGGAAG -3'
(R):5'- CATGTCAGATGTTGCCCAGGAG -3'
|
Posted On |
2017-03-31 |