Incidental Mutation 'R0742:Twf1'
| ID |
70743 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Twf1
|
| Ensembl Gene |
ENSMUSG00000022451 |
| Gene Name |
twinfilin actin binding protein 1 |
| Synonyms |
twinfilin, actin monomer-binding protein, Twinfilin-1, Ptk9, A6 |
| MMRRC Submission |
038923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
94475829-94487727 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94483411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 99
(M99T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023087
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023087]
[ENSMUST00000109248]
[ENSMUST00000152590]
|
| AlphaFold |
Q91YR1 |
| PDB Structure |
CRYSTAL STRUCTURE OF THE N-TERMINAL ADF-H DOMAIN OF MOUSE TWINFILIN ISOFORM-1 [X-RAY DIFFRACTION]
Solution structure of the second tandem cofilin-domain of mouse twinfilin [SOLUTION NMR]
Solution structure of C-teminal domain of twinfilin-1. [SOLUTION NMR]
Structure of the actin-depolymerizing factor homology domain in complex with actin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023087
AA Change: M99T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
AA Change: M99T
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
11 |
139 |
4.74e-35 |
SMART |
|
ADF
|
184 |
313 |
6.22e-30 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109248
|
| SMART Domains |
Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Death
|
20 |
101 |
1.6e-6 |
PFAM |
|
Pfam:Pkinase_Tyr
|
187 |
452 |
1.9e-51 |
PFAM |
|
Pfam:Pkinase
|
188 |
452 |
1.3e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127347
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000152590
AA Change: M73T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451
AA Change: M73T
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
1 |
113 |
1.9e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155654
|
| Meta Mutation Damage Score |
0.8932 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
T |
A |
6: 58,655,311 (GRCm39) |
D415E |
probably benign |
Het |
| Aff3 |
A |
G |
1: 38,666,189 (GRCm39) |
W12R |
probably damaging |
Het |
| Aldh3b2 |
G |
A |
19: 4,031,034 (GRCm39) |
G428S |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,264,156 (GRCm39) |
L736P |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 127,949,535 (GRCm39) |
E374* |
probably null |
Het |
| Casd1 |
T |
C |
6: 4,635,888 (GRCm39) |
|
probably null |
Het |
| Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,605 (GRCm39) |
|
probably null |
Het |
| Copg2 |
T |
C |
6: 30,840,548 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
C |
T |
9: 109,384,624 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,718 (GRCm39) |
I533N |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
| Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,327 (GRCm39) |
L912Q |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,881,359 (GRCm39) |
D264G |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,532,725 (GRCm39) |
I995K |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,769,011 (GRCm39) |
I48T |
possibly damaging |
Het |
| Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
| Thoc2l |
G |
A |
5: 104,670,020 (GRCm39) |
S1514N |
probably benign |
Het |
| Tmprss13 |
T |
C |
9: 45,243,765 (GRCm39) |
F167S |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,260,739 (GRCm39) |
C1408Y |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,281 (GRCm39) |
T644S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,507 (GRCm39) |
S2306G |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
probably benign |
Het |
|
| Other mutations in Twf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00495:Twf1
|
APN |
15 |
94,478,817 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02732:Twf1
|
APN |
15 |
94,478,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0122:Twf1
|
UTSW |
15 |
94,484,430 (GRCm39) |
splice site |
probably benign |
|
|
R0184:Twf1
|
UTSW |
15 |
94,478,948 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0507:Twf1
|
UTSW |
15 |
94,483,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1200:Twf1
|
UTSW |
15 |
94,484,239 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1858:Twf1
|
UTSW |
15 |
94,483,428 (GRCm39) |
splice site |
probably benign |
|
|
R2005:Twf1
|
UTSW |
15 |
94,483,328 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2290:Twf1
|
UTSW |
15 |
94,484,400 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3732:Twf1
|
UTSW |
15 |
94,482,295 (GRCm39) |
unclassified |
probably benign |
|
|
R4787:Twf1
|
UTSW |
15 |
94,482,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Twf1
|
UTSW |
15 |
94,480,654 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7893:Twf1
|
UTSW |
15 |
94,482,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8177:Twf1
|
UTSW |
15 |
94,482,276 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8415:Twf1
|
UTSW |
15 |
94,477,702 (GRCm39) |
makesense |
probably null |
|
|
R8729:Twf1
|
UTSW |
15 |
94,479,212 (GRCm39) |
missense |
probably benign |
|
|
R8768:Twf1
|
UTSW |
15 |
94,479,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8803:Twf1
|
UTSW |
15 |
94,479,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9150:Twf1
|
UTSW |
15 |
94,484,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Twf1
|
UTSW |
15 |
94,483,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTTATAGACCGGGACACTGAAAC -3'
(R):5'- CACGGCAAAGGCTGCTTTGTATTG -3'
Sequencing Primer
(F):5'- cctccctccctccctcc -3'
(R):5'- AAAGGCTGCTTTGTATTGATCCC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation