Incidental Mutation 'R5542:Flii'
| ID |
436047 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Flii
|
| Ensembl Gene |
ENSMUSG00000002812 |
| Gene Name |
flightless I actin binding protein |
| Synonyms |
Fliih, 3632430F08Rik |
| MMRRC Submission |
043100-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
60604969-60618089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60609688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 640
(S640P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002889]
[ENSMUST00000052346]
[ENSMUST00000108719]
|
| AlphaFold |
Q9JJ28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002889
AA Change: S640P
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000002889
Gene: ENSMUSG00000002812
AA Change: S640P
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.1%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
C |
T |
3: 59,932,484 (GRCm39) |
T333I |
probably damaging |
Het |
| Acacb |
C |
T |
5: 114,333,798 (GRCm39) |
R574C |
probably damaging |
Het |
| Actr10 |
T |
C |
12: 71,001,430 (GRCm39) |
|
probably benign |
Het |
| Ankdd1a |
T |
A |
9: 65,411,472 (GRCm39) |
|
probably null |
Het |
| Anks4b |
C |
T |
7: 119,781,646 (GRCm39) |
Q226* |
probably null |
Het |
| AW146154 |
C |
A |
7: 41,130,801 (GRCm39) |
G105V |
probably benign |
Het |
| Cdh4 |
T |
A |
2: 179,502,019 (GRCm39) |
N326K |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,860,517 (GRCm39) |
T410A |
possibly damaging |
Het |
| Cndp2 |
A |
T |
18: 84,690,201 (GRCm39) |
M247K |
probably damaging |
Het |
| Crx |
G |
A |
7: 15,602,262 (GRCm39) |
R139C |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,571,037 (GRCm39) |
Y68H |
probably damaging |
Het |
| Ddx4 |
T |
C |
13: 112,757,779 (GRCm39) |
D326G |
probably damaging |
Het |
| Edem1 |
C |
T |
6: 108,831,290 (GRCm39) |
R584C |
possibly damaging |
Het |
| Emcn |
A |
G |
3: 137,085,638 (GRCm39) |
T79A |
probably benign |
Het |
| Ext1 |
C |
A |
15: 52,939,213 (GRCm39) |
W612L |
probably damaging |
Het |
| Fbrsl1 |
C |
T |
5: 110,526,307 (GRCm39) |
G437R |
probably damaging |
Het |
| Fbxo7 |
A |
C |
10: 85,869,149 (GRCm39) |
Q201P |
probably benign |
Het |
| Fbxo9 |
T |
C |
9: 78,008,938 (GRCm39) |
M12V |
possibly damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,854,914 (GRCm39) |
I1847F |
probably damaging |
Het |
| Fsip2 |
A |
T |
2: 82,812,207 (GRCm39) |
N2842I |
possibly damaging |
Het |
| Fst |
G |
T |
13: 114,592,241 (GRCm39) |
Q159K |
probably damaging |
Het |
| Fuom |
A |
T |
7: 139,680,025 (GRCm39) |
*109R |
probably null |
Het |
| Hhipl2 |
A |
G |
1: 183,214,055 (GRCm39) |
D377G |
probably damaging |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Ighm |
A |
G |
12: 113,382,601 (GRCm39) |
|
probably benign |
Het |
| Ighv1-85 |
T |
A |
12: 115,963,847 (GRCm39) |
Y51F |
probably benign |
Het |
| Ighv2-3 |
A |
T |
12: 113,574,833 (GRCm39) |
D107E |
probably benign |
Het |
| Ighv2-6-8 |
T |
A |
12: 113,760,187 (GRCm39) |
M1L |
probably benign |
Het |
| Ipo5 |
T |
C |
14: 121,163,683 (GRCm39) |
V247A |
probably benign |
Het |
| Itga9 |
T |
C |
9: 118,672,729 (GRCm39) |
F154L |
possibly damaging |
Het |
| Itprid1 |
C |
A |
6: 55,955,380 (GRCm39) |
P996Q |
probably damaging |
Het |
| Knl1 |
T |
A |
2: 118,898,829 (GRCm39) |
C177S |
possibly damaging |
Het |
| Lrrc17 |
G |
A |
5: 21,780,156 (GRCm39) |
G377S |
probably damaging |
Het |
| Marveld3 |
A |
T |
8: 110,675,249 (GRCm39) |
I189K |
probably benign |
Het |
| Msantd2 |
G |
A |
9: 37,428,555 (GRCm39) |
G185R |
probably damaging |
Het |
| Mtcl1 |
G |
A |
17: 66,691,354 (GRCm39) |
|
probably benign |
Het |
| Muc21 |
T |
C |
17: 35,933,395 (GRCm39) |
|
probably benign |
Het |
| Mycbpap |
A |
T |
11: 94,398,572 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,316,353 (GRCm39) |
D1852G |
probably benign |
Het |
| Ndc80 |
A |
T |
17: 71,807,276 (GRCm39) |
V560D |
probably benign |
Het |
| Nscme3l |
A |
T |
19: 5,553,463 (GRCm39) |
V106D |
probably damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,030 (GRCm39) |
V208E |
possibly damaging |
Het |
| Or2t48 |
A |
C |
11: 58,420,710 (GRCm39) |
V34G |
probably benign |
Het |
| Or56a3 |
A |
T |
7: 104,735,565 (GRCm39) |
D214V |
probably damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,286 (GRCm39) |
S260R |
probably damaging |
Het |
| Or9i1b |
T |
C |
19: 13,896,411 (GRCm39) |
V9A |
probably benign |
Het |
| Pcdhga4 |
A |
T |
18: 37,819,651 (GRCm39) |
Y400F |
probably damaging |
Het |
| Pkd2 |
A |
G |
5: 104,634,515 (GRCm39) |
|
silent |
Het |
| Plxna4 |
T |
A |
6: 32,183,165 (GRCm39) |
I913F |
probably damaging |
Het |
| Psmc1 |
T |
C |
12: 100,086,399 (GRCm39) |
|
probably null |
Het |
| Robo2 |
G |
A |
16: 73,695,853 (GRCm39) |
T1430I |
probably benign |
Het |
| Safb2 |
G |
A |
17: 56,882,647 (GRCm39) |
R329C |
probably damaging |
Het |
| Septin14 |
T |
C |
5: 129,774,926 (GRCm39) |
H83R |
probably damaging |
Het |
| Slc16a10 |
A |
G |
10: 39,952,784 (GRCm39) |
F237L |
probably benign |
Het |
| Slc37a1 |
A |
T |
17: 31,559,236 (GRCm39) |
T439S |
probably damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,712,170 (GRCm39) |
F233S |
probably damaging |
Het |
| Smyd3 |
A |
T |
1: 179,238,024 (GRCm39) |
D114E |
probably benign |
Het |
| Sned1 |
T |
C |
1: 93,199,324 (GRCm39) |
I468T |
probably benign |
Het |
| Speer4a1 |
T |
A |
5: 26,241,736 (GRCm39) |
N130I |
probably damaging |
Het |
| Tdrd7 |
T |
C |
4: 46,029,757 (GRCm39) |
V1030A |
probably benign |
Het |
| Trip12 |
A |
T |
1: 84,727,065 (GRCm39) |
D1135E |
probably damaging |
Het |
| Tsga10 |
T |
A |
1: 37,800,598 (GRCm39) |
D542V |
probably damaging |
Het |
| Ubqlnl |
G |
A |
7: 103,798,904 (GRCm39) |
Q198* |
probably null |
Het |
| Unc93a2 |
A |
T |
17: 7,637,187 (GRCm39) |
C334S |
probably benign |
Het |
| Usp46 |
A |
T |
5: 74,189,902 (GRCm39) |
M43K |
probably benign |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,531 (GRCm39) |
I32N |
possibly damaging |
Het |
| Vmn1r29 |
C |
T |
6: 58,285,108 (GRCm39) |
T276I |
probably benign |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,034 (GRCm39) |
D191E |
probably damaging |
Het |
| Zbtb5 |
C |
A |
4: 44,995,052 (GRCm39) |
V111F |
probably damaging |
Het |
| Zfp12 |
C |
T |
5: 143,230,240 (GRCm39) |
P189L |
possibly damaging |
Het |
| Zfp729b |
A |
G |
13: 67,739,140 (GRCm39) |
F1042L |
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 |
|
|
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 |
|
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'- ACTGACTCAAAAGATGGGGC -3'
(R):5'- ATGACATCTCCTACATTGAAGGC -3'
Sequencing Primer
(F):5'- ACTCAAAAGATGGGGCTCTGGTTC -3'
(R):5'- TCTCCTACATTGAAGGCGGAACAG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation