Incidental Mutation 'R8485:Flii'
| ID |
657691 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flii
|
| Ensembl Gene |
ENSMUSG00000002812 |
| Gene Name |
flightless I actin binding protein |
| Synonyms |
Fliih, 3632430F08Rik |
| MMRRC Submission |
067928-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8485 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 60607063 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 971
(A971E)
|
| 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: A971E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: A971E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
A |
G |
3: 97,066,302 (GRCm39) |
|
probably benign |
Het |
| Adamts16 |
T |
C |
13: 70,886,794 (GRCm39) |
T999A |
possibly damaging |
Het |
| Adgrb1 |
A |
C |
15: 74,420,153 (GRCm39) |
T829P |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,290,711 (GRCm39) |
S1574N |
probably benign |
Het |
| Ankrd2 |
G |
A |
19: 42,030,384 (GRCm39) |
|
probably null |
Het |
| Ano3 |
T |
A |
2: 110,498,200 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
T |
C |
10: 26,722,104 (GRCm39) |
I25T |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,297,945 (GRCm39) |
F572S |
probably damaging |
Het |
| Aspdh |
G |
T |
7: 44,117,093 (GRCm39) |
G165W |
probably damaging |
Het |
| Btnl10 |
G |
T |
11: 58,811,142 (GRCm39) |
R155L |
possibly damaging |
Het |
| Cacng7 |
A |
G |
7: 3,414,541 (GRCm39) |
E168G |
probably benign |
Het |
| Cadps |
G |
A |
14: 12,439,872 (GRCm38) |
T1215M |
probably damaging |
Het |
| Cbfa2t3 |
C |
A |
8: 123,357,517 (GRCm39) |
G598C |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,584,105 (GRCm39) |
S69P |
probably damaging |
Het |
| Cwc27 |
G |
T |
13: 104,940,772 (GRCm39) |
P196T |
probably benign |
Het |
| Cwc27 |
C |
A |
13: 104,940,776 (GRCm39) |
L194F |
possibly damaging |
Het |
| Dlec1 |
T |
G |
9: 118,957,659 (GRCm39) |
V881G |
probably benign |
Het |
| Dnah7c |
A |
C |
1: 46,719,952 (GRCm39) |
D2801A |
probably benign |
Het |
| Efhc1 |
T |
C |
1: 21,030,460 (GRCm39) |
M131T |
possibly damaging |
Het |
| Ercc2 |
G |
A |
7: 19,122,165 (GRCm39) |
V386I |
possibly damaging |
Het |
| Exoc4 |
T |
A |
6: 33,898,436 (GRCm39) |
I885N |
probably damaging |
Het |
| Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
T |
A |
3: 79,388,844 (GRCm39) |
E599V |
probably benign |
Het |
| Glb1l2 |
G |
A |
9: 26,679,036 (GRCm39) |
L453F |
probably benign |
Het |
| Gm49368 |
C |
T |
7: 127,711,611 (GRCm39) |
P624L |
probably damaging |
Het |
| Gpa33 |
T |
A |
1: 165,992,261 (GRCm39) |
D268E |
probably benign |
Het |
| Gpi1 |
A |
T |
7: 33,918,677 (GRCm39) |
|
probably null |
Het |
| Iqgap2 |
T |
C |
13: 95,796,659 (GRCm39) |
N1165S |
probably damaging |
Het |
| Irag2 |
A |
T |
6: 145,117,400 (GRCm39) |
N379I |
probably damaging |
Het |
| Kctd2 |
G |
T |
11: 115,320,434 (GRCm39) |
|
probably benign |
Het |
| L1td1 |
C |
T |
4: 98,625,911 (GRCm39) |
A702V |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Mycbpap |
A |
G |
11: 94,402,534 (GRCm39) |
L267P |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,405,359 (GRCm39) |
R57G |
probably benign |
Het |
| Myo1b |
A |
C |
1: 51,818,760 (GRCm39) |
L505R |
probably damaging |
Het |
| Nfatc2 |
A |
C |
2: 168,432,012 (GRCm39) |
F34V |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,165,598 (GRCm39) |
N655S |
probably damaging |
Het |
| Nsd2 |
A |
T |
5: 34,040,189 (GRCm39) |
I909F |
probably damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,601 (GRCm39) |
M290L |
probably benign |
Het |
| Or8b37 |
T |
A |
9: 37,959,253 (GRCm39) |
M245K |
probably benign |
Het |
| Pak2 |
G |
A |
16: 31,871,083 (GRCm39) |
A33V |
probably benign |
Het |
| Phb1 |
A |
G |
11: 95,566,055 (GRCm39) |
D113G |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,593,257 (GRCm39) |
I1619F |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,423,796 (GRCm39) |
I3113V |
probably damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,102,105 (GRCm39) |
M726K |
possibly damaging |
Het |
| Rai14 |
A |
G |
15: 10,575,122 (GRCm39) |
L612P |
probably damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,600,186 (GRCm39) |
S598P |
probably damaging |
Het |
| Rdm1 |
G |
A |
11: 101,518,816 (GRCm39) |
V8I |
probably benign |
Het |
| Rrbp1 |
A |
G |
2: 143,796,933 (GRCm39) |
F1148L |
probably benign |
Het |
| Slc12a2 |
T |
C |
18: 58,074,218 (GRCm39) |
|
probably null |
Het |
| Slc7a8 |
T |
A |
14: 54,962,264 (GRCm39) |
T457S |
probably benign |
Het |
| Stk32a |
T |
A |
18: 43,376,075 (GRCm39) |
M48K |
possibly damaging |
Het |
| Svil |
T |
C |
18: 5,064,566 (GRCm39) |
S642P |
probably benign |
Het |
| Taok3 |
G |
A |
5: 117,389,142 (GRCm39) |
V516M |
possibly damaging |
Het |
| Ugdh |
T |
C |
5: 65,584,902 (GRCm39) |
I7V |
possibly damaging |
Het |
| Zc3h11a |
T |
A |
1: 133,553,633 (GRCm39) |
S504C |
possibly damaging |
Het |
| Zfp512 |
C |
T |
5: 31,637,401 (GRCm39) |
R497W |
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 |
|
|
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 |
|
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'- GCCTGGTTTGATCATACTACCATCC -3'
(R):5'- ATGTCTTCCTCTGCAGGTGC -3'
Sequencing Primer
(F):5'- GGTTTGATCATACTACCATCCCAAGC -3'
(R):5'- TTCCTCTGCAGGTGCCAGAG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation