Incidental Mutation 'R5859:Flii'
ID |
455079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Flii
|
Ensembl Gene |
ENSMUSG00000002812 |
Gene Name |
flightless I actin binding protein |
Synonyms |
Fliih, 3632430F08Rik |
MMRRC Submission |
044071-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5859 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 60607137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 946
(Y946*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
[ENSMUST00000052346]
[ENSMUST00000108719]
|
AlphaFold |
Q9JJ28 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002889
AA Change: Y946*
|
SMART Domains |
Protein: ENSMUSP00000002889 Gene: ENSMUSG00000002812 AA Change: Y946*
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 |
0.9711 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.9%
|
Validation Efficiency |
93% (70/75) |
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 |
Adam5 |
A |
T |
8: 25,303,477 (GRCm39) |
V150E |
probably benign |
Het |
Alg11 |
A |
G |
8: 22,555,857 (GRCm39) |
K373E |
probably benign |
Het |
Arl14ep |
C |
T |
2: 106,799,398 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
G |
A |
11: 4,608,284 (GRCm39) |
G227R |
probably benign |
Het |
Ash1l |
C |
T |
3: 88,976,300 (GRCm39) |
P2627S |
probably damaging |
Het |
Btla |
T |
G |
16: 45,059,402 (GRCm39) |
|
probably null |
Het |
Btnl10 |
C |
T |
11: 58,813,138 (GRCm39) |
P256S |
probably benign |
Het |
Cep162 |
C |
T |
9: 87,086,145 (GRCm39) |
A1060T |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,852,386 (GRCm39) |
K907* |
probably null |
Het |
Chpf |
A |
T |
1: 75,452,072 (GRCm39) |
F461I |
probably damaging |
Het |
Chrdl2 |
A |
G |
7: 99,670,114 (GRCm39) |
Y79C |
probably damaging |
Het |
Copb2 |
G |
A |
9: 98,450,161 (GRCm39) |
C40Y |
probably benign |
Het |
Cyfip1 |
T |
C |
7: 55,574,929 (GRCm39) |
L1060P |
probably damaging |
Het |
Drg1 |
G |
A |
11: 3,209,273 (GRCm39) |
|
probably benign |
Het |
Erich3 |
A |
G |
3: 154,468,134 (GRCm39) |
D862G |
possibly damaging |
Het |
Glt8d2 |
T |
C |
10: 82,507,915 (GRCm39) |
M1V |
probably null |
Het |
Gm21136 |
T |
A |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
Gramd1c |
T |
C |
16: 43,812,454 (GRCm39) |
T393A |
possibly damaging |
Het |
Gucy2d |
T |
A |
7: 98,101,090 (GRCm39) |
I471N |
probably benign |
Het |
Hps3 |
G |
A |
3: 20,063,034 (GRCm39) |
T711M |
probably benign |
Het |
Hs3st4 |
A |
T |
7: 123,582,831 (GRCm39) |
D143V |
probably benign |
Het |
Kif17 |
T |
A |
4: 138,018,744 (GRCm39) |
M461K |
possibly damaging |
Het |
Klhdc7a |
T |
A |
4: 139,694,885 (GRCm39) |
S21C |
probably damaging |
Het |
Klk15 |
G |
A |
7: 43,587,800 (GRCm39) |
R76H |
probably benign |
Het |
Lnpk |
G |
A |
2: 74,399,372 (GRCm39) |
T57I |
possibly damaging |
Het |
Ltbp2 |
A |
G |
12: 84,840,837 (GRCm39) |
V999A |
possibly damaging |
Het |
Ltbr |
T |
C |
6: 125,289,771 (GRCm39) |
H141R |
probably damaging |
Het |
Lvrn |
T |
C |
18: 47,026,816 (GRCm39) |
F805L |
probably damaging |
Het |
Ms4a13 |
A |
T |
19: 11,161,280 (GRCm39) |
C86* |
probably null |
Het |
Ncbp1 |
A |
G |
4: 46,163,026 (GRCm39) |
N480S |
probably benign |
Het |
Nelfcd |
T |
G |
2: 174,268,856 (GRCm39) |
*592G |
probably null |
Het |
Neurog2 |
T |
C |
3: 127,427,664 (GRCm39) |
V96A |
probably benign |
Het |
Nod1 |
A |
T |
6: 54,907,162 (GRCm39) |
W902R |
probably benign |
Het |
Or12d13 |
T |
C |
17: 37,647,260 (GRCm39) |
I288V |
possibly damaging |
Het |
Or4k15c |
T |
A |
14: 50,321,484 (GRCm39) |
Y218F |
probably damaging |
Het |
Or55b3 |
T |
C |
7: 102,126,957 (GRCm39) |
Y40C |
possibly damaging |
Het |
Or6d13 |
T |
C |
6: 116,517,861 (GRCm39) |
L149P |
probably damaging |
Het |
Pcdha11 |
A |
T |
18: 37,140,336 (GRCm39) |
H655L |
probably damaging |
Het |
Plpp7 |
A |
G |
2: 31,985,996 (GRCm39) |
E58G |
probably benign |
Het |
Psph |
A |
T |
5: 129,867,685 (GRCm39) |
|
probably benign |
Het |
Rab11fip1 |
A |
C |
8: 27,644,748 (GRCm39) |
S346A |
probably damaging |
Het |
Rreb1 |
C |
A |
13: 38,131,384 (GRCm39) |
P1513T |
probably benign |
Het |
Rreb1 |
C |
T |
13: 38,131,385 (GRCm39) |
P1513L |
probably benign |
Het |
Rsf1 |
C |
T |
7: 97,334,766 (GRCm39) |
R1300C |
probably damaging |
Het |
Scap |
A |
G |
9: 110,203,115 (GRCm39) |
N263S |
probably benign |
Het |
Sec24d |
A |
T |
3: 123,072,961 (GRCm39) |
|
probably benign |
Het |
Slain2 |
T |
C |
5: 73,105,888 (GRCm39) |
|
probably benign |
Het |
Slc6a18 |
G |
T |
13: 73,816,278 (GRCm39) |
T367N |
probably benign |
Het |
Slk |
T |
A |
19: 47,597,481 (GRCm39) |
D96E |
probably benign |
Het |
Spag5 |
G |
A |
11: 78,204,360 (GRCm39) |
V514I |
probably benign |
Het |
St8sia2 |
T |
C |
7: 73,616,654 (GRCm39) |
D107G |
probably damaging |
Het |
Tgfbr3 |
T |
A |
5: 107,288,381 (GRCm39) |
I427F |
probably benign |
Het |
Tlr2 |
T |
G |
3: 83,743,810 (GRCm39) |
T758P |
possibly damaging |
Het |
Tmem270 |
A |
G |
5: 134,931,738 (GRCm39) |
V68A |
probably benign |
Het |
Vmn2r106 |
T |
A |
17: 20,505,583 (GRCm39) |
H37L |
possibly damaging |
Het |
Vmn2r27 |
T |
G |
6: 124,177,647 (GRCm39) |
R452S |
probably damaging |
Het |
Wdr5 |
A |
G |
2: 27,423,362 (GRCm39) |
Y252C |
probably damaging |
Het |
Zswim9 |
C |
T |
7: 12,995,371 (GRCm39) |
V262M |
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 |
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'- AATGTGAAGGTCAGCCAGC -3'
(R):5'- TGATGACGGCTAACAGGCAG -3'
Sequencing Primer
(F):5'- TCAGCCAGCCCATGTTG -3'
(R):5'- TGAGGACCTGGATGGCATG -3'
|
Posted On |
2017-02-10 |