Incidental Mutation 'IGL02903:Cfl1'
| ID |
363712 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cfl1
|
| Ensembl Gene |
ENSMUSG00000056201 |
| Gene Name |
cofilin 1, non-muscle |
| Synonyms |
cofilin, n-cofilin, Cof |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02903
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
5540483-5544059 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5542828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 103
(F103L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112259
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025841]
[ENSMUST00000070172]
[ENSMUST00000116560]
[ENSMUST00000124334]
[ENSMUST00000126471]
[ENSMUST00000209469]
|
| AlphaFold |
P18760 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025841
|
| SMART Domains |
Protein: ENSMUSP00000025841
Gene: ENSMUSG00000024906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jmsa1
|
9 |
73 |
7e-3 |
SMART |
|
PDB:2KP7|A
|
11 |
90 |
5e-51 |
PDB |
|
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
|
PDB:2MC3|A
|
121 |
229 |
1e-48 |
PDB |
|
ERCC4
|
270 |
372 |
8.31e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070172
|
| SMART Domains |
Protein: ENSMUSP00000070915
Gene: ENSMUSG00000056185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PX
|
24 |
165 |
1.4e-19 |
PFAM |
|
Pfam:Vps5
|
183 |
394 |
9.9e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116560
AA Change: F103L
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112259
Gene: ENSMUSG00000056201
AA Change: F103L
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
19 |
154 |
5.3e-56 |
SMART |
|
low complexity region
|
195 |
205 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124334
|
| SMART Domains |
Protein: ENSMUSP00000114895
Gene: ENSMUSG00000024906
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jmsa1
|
9 |
73 |
9e-3 |
SMART |
|
PDB:2KP7|A
|
11 |
90 |
9e-51 |
PDB |
|
low complexity region
|
92 |
107 |
N/A |
INTRINSIC |
|
PDB:2MC3|A
|
121 |
229 |
3e-48 |
PDB |
|
ERCC4
|
270 |
372 |
8.31e-26 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126471
|
| SMART Domains |
Protein: ENSMUSP00000121435
Gene: ENSMUSG00000024906
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KP7|A
|
11 |
72 |
8e-21 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133436
|
| SMART Domains |
Protein: ENSMUSP00000118580
Gene: ENSMUSG00000024906
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KP7|A
|
2 |
55 |
5e-30 |
PDB |
|
low complexity region
|
57 |
72 |
N/A |
INTRINSIC |
|
PDB:2MC3|A
|
86 |
194 |
8e-50 |
PDB |
|
ERCC4
|
235 |
337 |
8.31e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144422
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209469
AA Change: F103L
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147961
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can polymerize and depolymerize F-actin and G-actin in a pH-dependent manner. Increased phosphorylation of this protein by LIM kinase aids in Rho-induced reorganization of the actin cytoskeleton. Cofilin is a widely distributed intracellular actin-modulating protein that binds and depolymerizes filamentous F-actin and inhibits the polymerization of monomeric G-actin in a pH-dependent manner. It is involved in the translocation of actin-cofilin complex from cytoplasm to nucleus.[supplied by OMIM, Apr 2004]
PHENOTYPE: Homozygous null mice display embryonic lethality with impaired neural crest cell migration, an open neural tube, and abnormal somite and eye development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
G |
6: 116,397,296 (GRCm39) |
N296T |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,045,004 (GRCm39) |
E301K |
probably damaging |
Het |
| Astn1 |
A |
G |
1: 158,516,120 (GRCm39) |
S1237G |
probably damaging |
Het |
| Atf6 |
G |
A |
1: 170,627,283 (GRCm39) |
P394S |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,415,344 (GRCm39) |
M321I |
probably benign |
Het |
| C4bp |
G |
A |
1: 130,583,722 (GRCm39) |
T82I |
probably damaging |
Het |
| Cask |
A |
T |
X: 13,418,686 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,379,073 (GRCm39) |
S2906T |
probably damaging |
Het |
| Chrnb3 |
A |
T |
8: 27,876,834 (GRCm39) |
T83S |
probably damaging |
Het |
| Cmtr2 |
A |
G |
8: 110,949,510 (GRCm39) |
T607A |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,299,262 (GRCm39) |
R3150M |
unknown |
Het |
| Cplane1 |
G |
T |
15: 8,299,263 (GRCm39) |
R3150S |
unknown |
Het |
| Cts7 |
A |
T |
13: 61,504,440 (GRCm39) |
|
probably benign |
Het |
| Dgkz |
A |
T |
2: 91,770,307 (GRCm39) |
Y514N |
possibly damaging |
Het |
| Dmrtc1b |
T |
A |
X: 101,757,173 (GRCm39) |
L206Q |
probably benign |
Het |
| Dus3l |
C |
T |
17: 57,075,363 (GRCm39) |
L397F |
probably damaging |
Het |
| Gm6356 |
C |
T |
14: 6,973,735 (GRCm38) |
G27E |
probably damaging |
Het |
| Hkdc1 |
C |
T |
10: 62,235,970 (GRCm39) |
|
probably null |
Het |
| Jkampl |
A |
G |
6: 73,446,103 (GRCm39) |
Y149H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,835,866 (GRCm39) |
V21E |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,480 (GRCm39) |
T75S |
possibly damaging |
Het |
| Lemd2 |
A |
G |
17: 27,412,184 (GRCm39) |
|
probably benign |
Het |
| Magee1 |
G |
T |
X: 104,166,945 (GRCm39) |
R910L |
probably damaging |
Het |
| Mcm3ap |
T |
C |
10: 76,307,092 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
T |
A |
10: 39,823,639 (GRCm39) |
E207V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,340,917 (GRCm39) |
S75P |
probably damaging |
Het |
| Or7a38 |
A |
G |
10: 78,753,250 (GRCm39) |
D192G |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,180,217 (GRCm39) |
V1026A |
probably damaging |
Het |
| Paxip1 |
A |
G |
5: 27,953,870 (GRCm39) |
L942P |
probably damaging |
Het |
| Ppp1r12b |
A |
T |
1: 134,883,387 (GRCm39) |
L45Q |
probably benign |
Het |
| Pramel23 |
A |
T |
4: 143,425,736 (GRCm39) |
M69K |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,502,447 (GRCm39) |
T824A |
possibly damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,004,861 (GRCm39) |
T574A |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,835,885 (GRCm39) |
S308P |
probably damaging |
Het |
| Shisal2b |
T |
A |
13: 105,000,118 (GRCm39) |
Y35F |
probably benign |
Het |
| Smr2 |
A |
T |
5: 88,256,489 (GRCm39) |
I56F |
probably benign |
Het |
| Wdfy4 |
C |
T |
14: 32,831,607 (GRCm39) |
R873H |
probably damaging |
Het |
|
| Other mutations in Cfl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01020:Cfl1
|
APN |
19 |
5,543,709 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1657:Cfl1
|
UTSW |
19 |
5,543,583 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4041:Cfl1
|
UTSW |
19 |
5,542,556 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5193:Cfl1
|
UTSW |
19 |
5,542,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5449:Cfl1
|
UTSW |
19 |
5,543,521 (GRCm39) |
makesense |
probably null |
|
|
R6981:Cfl1
|
UTSW |
19 |
5,542,644 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7287:Cfl1
|
UTSW |
19 |
5,542,562 (GRCm39) |
missense |
probably benign |
0.25 |
|
R8163:Cfl1
|
UTSW |
19 |
5,543,528 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9246:Cfl1
|
UTSW |
19 |
5,543,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9346:Cfl1
|
UTSW |
19 |
5,543,641 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation