Incidental Mutation 'R0636:Flii'
| ID |
56696 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flii
|
| Ensembl Gene |
ENSMUSG00000002812 |
| Gene Name |
flightless I actin binding protein |
| Synonyms |
Fliih, 3632430F08Rik |
| MMRRC Submission |
038825-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0636 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60606378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 1104
(Y1104F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
[ENSMUST00000052346]
[ENSMUST00000108719]
|
| AlphaFold |
Q9JJ28 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002889
AA Change: Y1104F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: Y1104F
| 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
|
| Meta Mutation Damage Score |
0.4059 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
96% (74/77) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,414 (GRCm39) |
Y264C |
probably damaging |
Het |
| 8030423J24Rik |
T |
C |
13: 71,032,344 (GRCm39) |
F139L |
unknown |
Het |
| Aco1 |
A |
G |
4: 40,175,697 (GRCm39) |
E146G |
probably damaging |
Het |
| Adam2 |
T |
G |
14: 66,272,265 (GRCm39) |
D639A |
probably benign |
Het |
| Adh4 |
G |
T |
3: 138,133,835 (GRCm39) |
R315L |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,298,702 (GRCm39) |
D76G |
probably damaging |
Het |
| Akip1 |
T |
C |
7: 109,306,726 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
T |
A |
10: 80,555,216 (GRCm39) |
K370* |
probably null |
Het |
| Arfgef1 |
C |
A |
1: 10,270,076 (GRCm39) |
V358L |
probably benign |
Het |
| Arpp21 |
A |
T |
9: 112,012,566 (GRCm39) |
D85E |
probably benign |
Het |
| Azi2 |
A |
T |
9: 117,891,125 (GRCm39) |
L383F |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,481,222 (GRCm39) |
D206E |
probably benign |
Het |
| Bsn |
T |
C |
9: 107,985,033 (GRCm39) |
D3007G |
unknown |
Het |
| Ccdc142 |
T |
G |
6: 83,084,179 (GRCm39) |
|
probably benign |
Het |
| Cep135 |
T |
C |
5: 76,763,504 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn6 |
A |
T |
6: 104,840,109 (GRCm39) |
Q1003L |
probably benign |
Het |
| Cntnap2 |
T |
A |
6: 47,273,642 (GRCm39) |
|
probably benign |
Het |
| Csf2rb2 |
G |
A |
15: 78,176,160 (GRCm39) |
Q139* |
probably null |
Het |
| Cyp3a16 |
A |
G |
5: 145,399,895 (GRCm39) |
V101A |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,173,713 (GRCm39) |
T152A |
probably benign |
Het |
| Def8 |
G |
A |
8: 124,181,096 (GRCm39) |
W176* |
probably null |
Het |
| Dgkg |
A |
G |
16: 22,398,479 (GRCm39) |
|
probably benign |
Het |
| Ear10 |
T |
C |
14: 44,160,451 (GRCm39) |
|
probably null |
Het |
| Fbxw2 |
A |
T |
2: 34,712,859 (GRCm39) |
Y67* |
probably null |
Het |
| Gm973 |
G |
A |
1: 59,590,303 (GRCm39) |
R270K |
probably benign |
Het |
| Gnl3 |
T |
A |
14: 30,739,110 (GRCm39) |
K75N |
probably damaging |
Het |
| Gpc6 |
A |
T |
14: 117,861,905 (GRCm39) |
M274L |
probably benign |
Het |
| Ifi47 |
A |
G |
11: 48,987,478 (GRCm39) |
E415G |
possibly damaging |
Het |
| Ift57 |
A |
G |
16: 49,532,259 (GRCm39) |
T130A |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,072,910 (GRCm39) |
D2373V |
probably damaging |
Het |
| Kat6a |
T |
C |
8: 23,429,339 (GRCm39) |
S1565P |
possibly damaging |
Het |
| Klhl6 |
A |
T |
16: 19,766,823 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
C |
6: 131,197,067 (GRCm39) |
|
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,831,124 (GRCm39) |
|
probably null |
Het |
| Mapk4 |
A |
G |
18: 74,063,525 (GRCm39) |
S566P |
probably benign |
Het |
| Mindy4 |
C |
A |
6: 55,253,570 (GRCm39) |
R480S |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,070,817 (GRCm39) |
|
probably benign |
Het |
| Mtmr2 |
A |
G |
9: 13,713,209 (GRCm39) |
|
probably null |
Het |
| Myef2l |
T |
C |
3: 10,153,843 (GRCm39) |
L204P |
possibly damaging |
Het |
| Naip5 |
T |
C |
13: 100,356,196 (GRCm39) |
T1140A |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,426,529 (GRCm39) |
T1648A |
probably damaging |
Het |
| Nlk |
A |
T |
11: 78,586,670 (GRCm39) |
D141E |
probably benign |
Het |
| Noxa1 |
C |
A |
2: 24,976,106 (GRCm39) |
|
probably benign |
Het |
| Or4g16 |
A |
G |
2: 111,136,757 (GRCm39) |
N69S |
probably benign |
Het |
| Or5b121 |
A |
T |
19: 13,507,613 (GRCm39) |
Y236F |
possibly damaging |
Het |
| Or5p55 |
T |
C |
7: 107,566,679 (GRCm39) |
V25A |
probably benign |
Het |
| Otog |
G |
A |
7: 45,913,652 (GRCm39) |
|
probably null |
Het |
| Pebp4 |
T |
C |
14: 70,285,796 (GRCm39) |
|
probably benign |
Het |
| Phgdh |
G |
T |
3: 98,240,607 (GRCm39) |
N100K |
possibly damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,800 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,702,242 (GRCm39) |
H346R |
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,226 (GRCm39) |
V652A |
possibly damaging |
Het |
| Rubcn |
G |
A |
16: 32,649,056 (GRCm39) |
H624Y |
probably damaging |
Het |
| Semp2l2a |
T |
C |
8: 13,887,870 (GRCm39) |
R74G |
probably benign |
Het |
| Setdb2 |
T |
C |
14: 59,644,153 (GRCm39) |
N656D |
probably benign |
Het |
| Slc22a23 |
T |
C |
13: 34,483,076 (GRCm39) |
T268A |
probably benign |
Het |
| Slc3a1 |
A |
T |
17: 85,340,222 (GRCm39) |
T215S |
possibly damaging |
Het |
| Srsf2 |
A |
G |
11: 116,742,904 (GRCm39) |
S206P |
probably benign |
Het |
| Susd2 |
T |
A |
10: 75,475,184 (GRCm39) |
D542V |
probably damaging |
Het |
| Svep1 |
G |
A |
4: 58,073,121 (GRCm39) |
Q2063* |
probably null |
Het |
| Syne2 |
G |
A |
12: 75,977,757 (GRCm39) |
V1401M |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 36,834,803 (GRCm39) |
L64P |
probably damaging |
Het |
| Tigd2 |
A |
G |
6: 59,188,272 (GRCm39) |
T380A |
possibly damaging |
Het |
| Trmt12 |
G |
T |
15: 58,745,834 (GRCm39) |
V411F |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,163,613 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,554,935 (GRCm39) |
C3571Y |
probably benign |
Het |
| Usp8 |
A |
G |
2: 126,562,030 (GRCm39) |
M75V |
possibly damaging |
Het |
| Vcan |
C |
T |
13: 89,852,825 (GRCm39) |
D712N |
probably damaging |
Het |
| Vcan |
C |
A |
13: 89,860,386 (GRCm39) |
R327L |
probably damaging |
Het |
| Vps8 |
A |
G |
16: 21,253,683 (GRCm39) |
E8G |
probably benign |
Het |
| Washc5 |
T |
C |
15: 59,231,258 (GRCm39) |
D335G |
probably benign |
Het |
| Zbtb39 |
A |
G |
10: 127,578,704 (GRCm39) |
N426S |
probably benign |
Het |
| Zfp184 |
T |
A |
13: 22,133,919 (GRCm39) |
D55E |
probably damaging |
Het |
| Zfp882 |
T |
C |
8: 72,668,181 (GRCm39) |
V336A |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGAAGTTCTCTGGCTCCTCGC -3'
(R):5'- TGGAGGTAACACTGCTGACACCAC -3'
Sequencing Primer
(F):5'- GGCTCCTCGCCTTCATTG -3'
(R):5'- TGCTGACACCACCACCC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation