Incidental Mutation 'IGL01938:Flii'
| ID |
180753 |
| 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 # |
IGL01938
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60605942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1177
(Y1177C)
|
| 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: Y1177C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: Y1177C
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
C |
T |
5: 88,119,567 (GRCm39) |
T108I |
probably damaging |
Het |
| Adam34 |
A |
G |
8: 44,104,053 (GRCm39) |
Y531H |
probably damaging |
Het |
| Arhgef10 |
T |
A |
8: 15,041,062 (GRCm39) |
N1077K |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,108,338 (GRCm39) |
|
probably null |
Het |
| Cachd1 |
A |
G |
4: 100,831,325 (GRCm39) |
I706V |
possibly damaging |
Het |
| Cebpz |
A |
T |
17: 79,242,390 (GRCm39) |
C421* |
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,705,614 (GRCm39) |
V699A |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,886,885 (GRCm39) |
N935S |
unknown |
Het |
| Dnah1 |
C |
T |
14: 31,005,844 (GRCm39) |
V2312I |
probably benign |
Het |
| Ebf3 |
T |
C |
7: 136,911,047 (GRCm39) |
T156A |
probably damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,483 (GRCm39) |
V457A |
probably benign |
Het |
| Fryl |
T |
A |
5: 73,279,707 (GRCm39) |
K197M |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,729,825 (GRCm39) |
F515S |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,603 (GRCm39) |
I1233T |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,858,714 (GRCm39) |
Y286C |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,812,009 (GRCm39) |
N807S |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,296,059 (GRCm39) |
V2992M |
probably benign |
Het |
| Myocd |
A |
G |
11: 65,077,914 (GRCm39) |
L627P |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,417,484 (GRCm39) |
I40T |
probably benign |
Het |
| Niban1 |
A |
G |
1: 151,565,365 (GRCm39) |
T232A |
probably benign |
Het |
| Nipsnap1 |
C |
T |
11: 4,843,134 (GRCm39) |
H269Y |
probably benign |
Het |
| Nlrp4g |
G |
A |
9: 124,349,068 (GRCm38) |
|
noncoding transcript |
Het |
| Nup188 |
A |
T |
2: 30,219,371 (GRCm39) |
R862S |
probably benign |
Het |
| Or1e16 |
T |
A |
11: 73,286,471 (GRCm39) |
I126F |
probably damaging |
Het |
| Or4a80 |
G |
T |
2: 89,582,692 (GRCm39) |
A160D |
probably benign |
Het |
| Or6c33 |
T |
A |
10: 129,853,981 (GRCm39) |
Y250* |
probably null |
Het |
| Pde4c |
A |
T |
8: 71,202,027 (GRCm39) |
K549N |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,361,933 (GRCm39) |
T992A |
probably benign |
Het |
| Pramel32 |
A |
G |
4: 88,547,600 (GRCm39) |
S24P |
possibly damaging |
Het |
| Smyd2 |
A |
G |
1: 189,621,079 (GRCm39) |
V213A |
probably benign |
Het |
| Sult1c2 |
C |
T |
17: 54,138,954 (GRCm39) |
V208M |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,042 (GRCm39) |
L3277P |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,056,056 (GRCm39) |
V304A |
probably benign |
Het |
| Xrra1 |
T |
C |
7: 99,528,676 (GRCm39) |
|
probably null |
Het |
| Zscan29 |
C |
T |
2: 120,996,690 (GRCm39) |
A344T |
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation