Incidental Mutation 'R3875:Flii'
| ID |
276803 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flii
|
| Ensembl Gene |
ENSMUSG00000002812 |
| Gene Name |
flightless I actin binding protein |
| Synonyms |
Fliih, 3632430F08Rik |
| MMRRC Submission |
068967-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3875 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60611318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 418
(S418G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
|
| AlphaFold |
Q9JJ28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002889
AA Change: S418G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: S418G
| 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
|
| Meta Mutation Damage Score |
0.0702 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (50/50) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
C |
2: 152,276,000 (GRCm39) |
S72P |
probably benign |
Het |
| Abca5 |
T |
A |
11: 110,201,059 (GRCm39) |
Y447F |
probably damaging |
Het |
| Adgrg2 |
A |
G |
X: 159,261,992 (GRCm39) |
S337G |
probably benign |
Het |
| Akap12 |
G |
A |
10: 4,307,590 (GRCm39) |
V1467I |
probably benign |
Het |
| Baz2a |
T |
A |
10: 127,959,979 (GRCm39) |
M1419K |
probably damaging |
Het |
| Cacna1g |
G |
A |
11: 94,328,749 (GRCm39) |
T1033I |
probably damaging |
Het |
| Car12 |
C |
A |
9: 66,624,834 (GRCm39) |
|
probably benign |
Het |
| Cpne1 |
G |
A |
2: 155,918,202 (GRCm39) |
H352Y |
probably damaging |
Het |
| D630039A03Rik |
T |
A |
4: 57,910,606 (GRCm39) |
T69S |
probably benign |
Het |
| Dhodh |
T |
C |
8: 110,321,592 (GRCm39) |
D310G |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,320,174 (GRCm39) |
I3965T |
probably damaging |
Het |
| Drd5 |
T |
G |
5: 38,477,157 (GRCm39) |
V50G |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,210,328 (GRCm39) |
H934Q |
probably damaging |
Het |
| Eif1ad10 |
T |
C |
12: 88,216,476 (GRCm39) |
D132G |
unknown |
Het |
| Far2 |
G |
A |
6: 148,052,089 (GRCm39) |
E123K |
probably benign |
Het |
| Fbxo43 |
A |
T |
15: 36,162,249 (GRCm39) |
F319L |
probably benign |
Het |
| Glyctk |
T |
A |
9: 106,034,820 (GRCm39) |
Y82F |
probably damaging |
Het |
| Gm11353 |
G |
T |
13: 26,676,651 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6505 |
T |
A |
3: 28,819,286 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr151 |
A |
G |
18: 42,711,661 (GRCm39) |
V339A |
probably benign |
Het |
| H2-T22 |
T |
C |
17: 36,351,195 (GRCm39) |
I296V |
probably benign |
Het |
| Igfn1 |
T |
C |
1: 135,882,352 (GRCm39) |
N2831S |
probably damaging |
Het |
| Igkv13-85 |
A |
G |
6: 68,907,484 (GRCm39) |
V39A |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,793 (GRCm39) |
T242A |
probably benign |
Het |
| Krt26 |
T |
C |
11: 99,225,570 (GRCm39) |
K304E |
probably damaging |
Het |
| Mcoln1 |
A |
G |
8: 3,558,355 (GRCm39) |
D203G |
probably benign |
Het |
| Mlph |
T |
C |
1: 90,855,844 (GRCm39) |
C57R |
probably damaging |
Het |
| Myh13 |
C |
A |
11: 67,249,020 (GRCm39) |
H1275Q |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,233,758 (GRCm39) |
|
probably benign |
Het |
| Orc5 |
T |
A |
5: 22,742,564 (GRCm39) |
M115L |
probably benign |
Het |
| Pcdha6 |
T |
A |
18: 37,101,119 (GRCm39) |
I104N |
probably damaging |
Het |
| Plcb4 |
T |
C |
2: 135,844,552 (GRCm39) |
S157P |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,894,389 (GRCm39) |
D1787G |
probably damaging |
Het |
| Prkar2b |
T |
G |
12: 32,015,122 (GRCm39) |
I142L |
probably benign |
Het |
| Ptprq |
A |
G |
10: 107,520,965 (GRCm39) |
S736P |
possibly damaging |
Het |
| Qrich2 |
A |
T |
11: 116,336,477 (GRCm39) |
V2046D |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,833,361 (GRCm39) |
F373I |
probably damaging |
Het |
| Rcvrn |
A |
G |
11: 67,590,880 (GRCm39) |
I155V |
probably benign |
Het |
| Rsrc2 |
C |
T |
5: 123,874,691 (GRCm39) |
|
probably benign |
Het |
| Sgsh |
A |
G |
11: 119,241,773 (GRCm39) |
L111P |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,930,261 (GRCm39) |
D114V |
probably damaging |
Het |
| St6gal2 |
C |
A |
17: 55,789,698 (GRCm39) |
P244Q |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,165,538 (GRCm39) |
|
probably benign |
Het |
| Tmem221 |
T |
C |
8: 72,008,399 (GRCm39) |
|
probably null |
Het |
| Trh |
A |
T |
6: 92,220,679 (GRCm39) |
V61E |
possibly damaging |
Het |
| Trim32 |
A |
T |
4: 65,531,703 (GRCm39) |
I87F |
possibly damaging |
Het |
| Tti2 |
A |
G |
8: 31,641,175 (GRCm39) |
K100E |
probably benign |
Het |
| Usp34 |
C |
T |
11: 23,439,033 (GRCm39) |
P3532S |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,917,114 (GRCm39) |
Y17H |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,365,094 (GRCm39) |
K438E |
probably benign |
Het |
| Zfp60 |
T |
C |
7: 27,449,006 (GRCm39) |
I558T |
probably damaging |
Het |
| Zzef1 |
A |
C |
11: 72,779,866 (GRCm39) |
I1880L |
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 |
|
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 |
|
|
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'- ATTAGCCATTCTCTGCTCAGG -3'
(R):5'- TCGCTACAGAACCAGCTGAG -3'
Sequencing Primer
(F):5'- GGCCCCTCTTCCTTCTGAGAG -3'
(R):5'- GCAAGGGCACTTCTCTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation