Incidental Mutation 'IGL00495:Twf1'
| ID |
14665 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Twf1
|
| Ensembl Gene |
ENSMUSG00000022451 |
| Gene Name |
twinfilin actin binding protein 1 |
| Synonyms |
twinfilin, actin monomer-binding protein, Twinfilin-1, Ptk9, A6 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00495
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
94475829-94487727 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 94478817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023087]
[ENSMUST00000109248]
[ENSMUST00000152590]
|
| AlphaFold |
Q91YR1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023087
|
| SMART Domains |
Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
| 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 benign
Transcript: ENSMUST00000152590
|
| SMART Domains |
Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
1 |
113 |
1.9e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155654
|
| Coding Region Coverage |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankk1 |
T |
C |
9: 49,327,143 (GRCm39) |
T679A |
probably benign |
Het |
| Bhlhe40 |
T |
A |
6: 108,638,139 (GRCm39) |
M33K |
probably benign |
Het |
| Cacna2d1 |
T |
C |
5: 16,575,607 (GRCm39) |
S1059P |
probably benign |
Het |
| Cdkn1a |
C |
A |
17: 29,317,494 (GRCm39) |
A38E |
possibly damaging |
Het |
| Chrm2 |
A |
T |
6: 36,500,355 (GRCm39) |
I71F |
possibly damaging |
Het |
| Cntnap5c |
A |
G |
17: 58,469,272 (GRCm39) |
Q618R |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,887,308 (GRCm39) |
N476K |
probably benign |
Het |
| Dhx36 |
G |
A |
3: 62,377,979 (GRCm39) |
|
probably benign |
Het |
| Dnajb8 |
G |
T |
6: 88,199,836 (GRCm39) |
R124L |
possibly damaging |
Het |
| Dnajc16 |
A |
T |
4: 141,490,874 (GRCm39) |
|
probably null |
Het |
| Dzip1 |
T |
C |
14: 119,120,806 (GRCm39) |
D717G |
probably benign |
Het |
| Eps15 |
G |
T |
4: 109,166,346 (GRCm39) |
V80L |
probably damaging |
Het |
| Fmn1 |
G |
A |
2: 113,274,812 (GRCm39) |
|
probably benign |
Het |
| Gm12185 |
A |
G |
11: 48,798,688 (GRCm39) |
S602P |
probably damaging |
Het |
| Gm28539 |
T |
G |
16: 18,773,530 (GRCm39) |
|
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,562,290 (GRCm39) |
N520S |
probably benign |
Het |
| Hivep2 |
A |
G |
10: 14,017,988 (GRCm39) |
N1825S |
probably damaging |
Het |
| Igfbp2 |
A |
G |
1: 72,888,287 (GRCm39) |
H143R |
probably benign |
Het |
| Igsf8 |
T |
G |
1: 172,145,111 (GRCm39) |
V146G |
possibly damaging |
Het |
| Kif13b |
T |
G |
14: 64,951,562 (GRCm39) |
S68A |
probably benign |
Het |
| Lrrc15 |
T |
A |
16: 30,092,848 (GRCm39) |
I164F |
possibly damaging |
Het |
| Mrrf |
G |
A |
2: 36,031,643 (GRCm39) |
R53H |
possibly damaging |
Het |
| Ms4a6d |
G |
A |
19: 11,579,249 (GRCm39) |
T76I |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,818,493 (GRCm39) |
R1332G |
probably benign |
Het |
| Plekha1 |
A |
G |
7: 130,479,569 (GRCm39) |
Y29C |
probably damaging |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,162 (GRCm39) |
H221L |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,171,630 (GRCm39) |
D380G |
probably damaging |
Het |
| Ppm1f |
C |
A |
16: 16,728,835 (GRCm39) |
T79N |
possibly damaging |
Het |
| Ppp4r3b |
A |
C |
11: 29,161,782 (GRCm39) |
T719P |
possibly damaging |
Het |
| Socs4 |
G |
A |
14: 47,527,709 (GRCm39) |
V215I |
probably benign |
Het |
| Spg11 |
A |
G |
2: 121,924,937 (GRCm39) |
|
probably null |
Het |
| Stk31 |
T |
A |
6: 49,414,377 (GRCm39) |
C459S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,546 (GRCm39) |
V26153A |
possibly damaging |
Het |
| Vrk3 |
A |
T |
7: 44,419,071 (GRCm39) |
K383M |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,806,443 (GRCm39) |
N118K |
probably damaging |
Het |
|
| Other mutations in Twf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R0742: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 |
|
| Posted On |
2012-12-06 |
Incidental Mutation