Incidental Mutation 'R1200:Twf1'
| ID |
101327 |
| 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 |
039270-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1200 (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 T
at 94484239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 94
(H94Q)
|
| 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 benign
Transcript: ENSMUST00000023087
AA Change: H94Q
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
AA Change: H94Q
| 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
AA Change: H68Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451
AA Change: H68Q
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
1 |
113 |
1.9e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155654
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.2%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
C |
16: 4,667,536 (GRCm39) |
F309S |
unknown |
Het |
| Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
| Acat1 |
T |
A |
9: 53,494,810 (GRCm39) |
I361F |
possibly damaging |
Het |
| Akp3 |
T |
A |
1: 87,052,982 (GRCm39) |
I57N |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Axin2 |
C |
A |
11: 108,822,376 (GRCm39) |
D309E |
probably damaging |
Het |
| Clstn3 |
G |
T |
6: 124,436,129 (GRCm39) |
P207T |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,107,626 (GRCm39) |
A1212E |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,246,403 (GRCm39) |
I580M |
possibly damaging |
Het |
| Dpp3 |
T |
C |
19: 4,973,157 (GRCm39) |
T146A |
probably benign |
Het |
| Fam227a |
A |
G |
15: 79,496,738 (GRCm39) |
F613S |
possibly damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,594 (GRCm39) |
D503G |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,945,631 (GRCm39) |
T2M |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,393,406 (GRCm39) |
L4095S |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,607,739 (GRCm39) |
Y614C |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,466,742 (GRCm39) |
F616L |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,916,882 (GRCm39) |
Y401N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,057,657 (GRCm39) |
Y6144C |
probably damaging |
Het |
| Nr1h5 |
A |
G |
3: 102,855,178 (GRCm39) |
F308L |
probably damaging |
Het |
| Ntn5 |
G |
T |
7: 45,341,806 (GRCm39) |
V309L |
possibly damaging |
Het |
| Or51aa2 |
T |
A |
7: 103,188,274 (GRCm39) |
T56S |
probably benign |
Het |
| Or8k21 |
A |
T |
2: 86,145,477 (GRCm39) |
L51Q |
probably damaging |
Het |
| Pex1 |
G |
A |
5: 3,656,411 (GRCm39) |
|
probably null |
Het |
| Pld1 |
A |
T |
3: 28,103,435 (GRCm39) |
D380V |
probably damaging |
Het |
| Prdm1 |
A |
G |
10: 44,326,126 (GRCm39) |
Y148H |
probably damaging |
Het |
| Ptchd3 |
T |
C |
11: 121,722,087 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,705,163 (GRCm39) |
T689I |
probably benign |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Vmn2r13 |
T |
G |
5: 109,322,068 (GRCm39) |
I210L |
probably damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,370,675 (GRCm39) |
E402G |
probably damaging |
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 |
|
R0742:Twf1
|
UTSW |
15 |
94,483,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATGTGCTCGATTAGTGAGGAGCCG -3'
(R):5'- TCCGATACGACACTGCATTCATCTG -3'
Sequencing Primer
(F):5'- CTCAGGGGTCACGATTAATTAGC -3'
(R):5'- TCCTTTCATAGAGCAACTGGTG -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation