Incidental Mutation 'IGL02626:Flii'
| ID |
301070 |
| 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 # |
IGL02626
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 60610685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 537
(D537G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
|
| AlphaFold |
Q9JJ28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002889
AA Change: D537G
PolyPhen 2
Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: D537G
| 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
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930407I10Rik |
A |
G |
15: 81,949,810 (GRCm39) |
K1236E |
probably damaging |
Het |
| Actl7a |
A |
T |
4: 56,744,353 (GRCm39) |
E293D |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,667,082 (GRCm39) |
Y460H |
probably damaging |
Het |
| Aoc1 |
G |
A |
6: 48,883,044 (GRCm39) |
V307I |
probably benign |
Het |
| Ar |
C |
T |
X: 97,358,492 (GRCm39) |
H756Y |
probably damaging |
Het |
| Atg3 |
C |
T |
16: 45,004,048 (GRCm39) |
R224W |
probably benign |
Het |
| Atp5po |
G |
A |
16: 91,483,201 (GRCm39) |
P47S |
probably damaging |
Het |
| Bicd1 |
A |
G |
6: 149,311,054 (GRCm39) |
E43G |
probably damaging |
Het |
| Ccdc88c |
A |
G |
12: 100,934,059 (GRCm39) |
|
probably benign |
Het |
| Cd33 |
A |
G |
7: 43,179,736 (GRCm39) |
|
probably benign |
Het |
| Cd36 |
T |
A |
5: 18,002,126 (GRCm39) |
R292* |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,227,580 (GRCm39) |
D1167G |
probably damaging |
Het |
| Cdk5rap1 |
A |
G |
2: 154,207,880 (GRCm39) |
|
probably null |
Het |
| Chd6 |
A |
G |
2: 160,881,270 (GRCm39) |
|
probably benign |
Het |
| Chd7 |
A |
T |
4: 8,826,519 (GRCm39) |
Y961F |
probably damaging |
Het |
| Cpe |
T |
C |
8: 65,145,829 (GRCm39) |
E52G |
probably benign |
Het |
| Cpne5 |
C |
T |
17: 29,379,311 (GRCm39) |
G491S |
probably damaging |
Het |
| Csmd3 |
A |
T |
15: 47,567,503 (GRCm39) |
|
probably benign |
Het |
| Ctbp2 |
T |
A |
7: 132,600,940 (GRCm39) |
T608S |
probably benign |
Het |
| Cybb |
A |
G |
X: 9,335,439 (GRCm39) |
|
probably null |
Het |
| Daam2 |
T |
C |
17: 49,797,282 (GRCm39) |
T168A |
possibly damaging |
Het |
| Dnah5 |
G |
T |
15: 28,307,422 (GRCm39) |
V1717F |
possibly damaging |
Het |
| Dse |
G |
A |
10: 34,029,158 (GRCm39) |
T644I |
probably damaging |
Het |
| Dtd2 |
A |
C |
12: 52,051,708 (GRCm39) |
Y45* |
probably null |
Het |
| Fgfr1op2 |
T |
A |
6: 146,491,509 (GRCm39) |
M124K |
probably benign |
Het |
| Fntb |
T |
A |
12: 76,944,145 (GRCm39) |
I217N |
probably benign |
Het |
| Foxi1 |
A |
G |
11: 34,155,860 (GRCm39) |
S257P |
probably benign |
Het |
| Fyn |
G |
A |
10: 39,402,798 (GRCm39) |
R190H |
probably damaging |
Het |
| Gm28557 |
T |
A |
13: 67,223,008 (GRCm39) |
T8S |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,209,306 (GRCm39) |
K873E |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,895,503 (GRCm39) |
T329A |
probably benign |
Het |
| Haus5 |
A |
G |
7: 30,356,675 (GRCm39) |
L477P |
probably damaging |
Het |
| Hectd4 |
A |
T |
5: 121,491,944 (GRCm39) |
E3761V |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,421,840 (GRCm39) |
I930V |
probably benign |
Het |
| Itprid1 |
T |
A |
6: 55,945,631 (GRCm39) |
V784D |
probably benign |
Het |
| Izumo2 |
A |
G |
7: 44,358,560 (GRCm39) |
|
probably benign |
Het |
| Map4k4 |
A |
G |
1: 40,053,257 (GRCm39) |
|
probably benign |
Het |
| Morc1 |
A |
G |
16: 48,436,123 (GRCm39) |
S753G |
probably damaging |
Het |
| Mpzl2 |
C |
T |
9: 44,955,590 (GRCm39) |
T167I |
probably damaging |
Het |
| Mta2 |
T |
A |
19: 8,926,532 (GRCm39) |
I491N |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 113,025,951 (GRCm39) |
I33N |
unknown |
Het |
| Nub1 |
C |
T |
5: 24,908,462 (GRCm39) |
H404Y |
possibly damaging |
Het |
| Or10ak13 |
T |
C |
4: 118,639,531 (GRCm39) |
M84V |
probably damaging |
Het |
| Or4f58 |
A |
T |
2: 111,851,458 (GRCm39) |
V247E |
probably damaging |
Het |
| Or5d47 |
T |
C |
2: 87,804,068 (GRCm39) |
N314D |
probably benign |
Het |
| Or8d2b |
T |
C |
9: 38,788,784 (GRCm39) |
L104S |
probably benign |
Het |
| Ralyl |
A |
T |
3: 13,842,094 (GRCm39) |
M77L |
probably benign |
Het |
| Rap1gap |
T |
A |
4: 137,454,364 (GRCm39) |
V649E |
probably benign |
Het |
| Rnf40 |
C |
A |
7: 127,195,744 (GRCm39) |
Q663K |
probably damaging |
Het |
| Slc22a18 |
T |
C |
7: 143,052,837 (GRCm39) |
L354P |
probably damaging |
Het |
| Slc9a8 |
T |
C |
2: 167,309,597 (GRCm39) |
|
probably benign |
Het |
| Surf4 |
C |
T |
2: 26,815,619 (GRCm39) |
|
probably null |
Het |
| T |
A |
T |
17: 8,654,069 (GRCm39) |
N85Y |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,630,216 (GRCm39) |
E732G |
probably damaging |
Het |
| Tas2r138 |
A |
G |
6: 40,589,649 (GRCm39) |
V199A |
possibly damaging |
Het |
| Trim43b |
T |
C |
9: 88,967,541 (GRCm39) |
Y365C |
possibly damaging |
Het |
| Ubd |
T |
C |
17: 37,506,573 (GRCm39) |
L153P |
probably damaging |
Het |
| Xpnpep2 |
A |
C |
X: 47,215,786 (GRCm39) |
M513L |
probably benign |
Het |
| Zar1l |
C |
T |
5: 150,441,210 (GRCm39) |
G139R |
probably damaging |
Het |
| Zc3hav1 |
T |
G |
6: 38,309,926 (GRCm39) |
T299P |
probably damaging |
Het |
| Zfp236 |
C |
A |
18: 82,676,120 (GRCm39) |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation