Incidental Mutation 'R9357:Twf2'
| ID |
708463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Twf2
|
| Ensembl Gene |
ENSMUSG00000023277 |
| Gene Name |
twinfilin actin binding protein 2 |
| Synonyms |
Ptk9l, Twinfilin-2, A6-related, Twf2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9357 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106080307-106092586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 106092100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 319
(F319S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024047
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024047]
[ENSMUST00000187647]
[ENSMUST00000187944]
[ENSMUST00000188650]
[ENSMUST00000216348]
|
| AlphaFold |
Q9Z0P5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024047
AA Change: F319S
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000024047
Gene: ENSMUSG00000023277
AA Change: F319S
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
11 |
139 |
4.24e-23 |
SMART |
|
ADF
|
184 |
313 |
1.51e-19 |
SMART |
|
low complexity region
|
325 |
337 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187647
|
| SMART Domains |
Protein: ENSMUSP00000140617
Gene: ENSMUSG00000023277
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1f7sa_
|
5 |
34 |
5e-4 |
SMART |
|
PDB:2VAC|A
|
6 |
44 |
1e-12 |
PDB |
|
Blast:ADF
|
11 |
48 |
6e-8 |
BLAST |
|
low complexity region
|
56 |
70 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188650
AA Change: F317S
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277
AA Change: F317S
| Domain | Start | End | E-Value | Type |
|---|
|
ADF
|
9 |
137 |
4.24e-23 |
SMART |
|
ADF
|
182 |
311 |
1.51e-19 |
SMART |
|
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216348
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216850
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified by its interaction with the catalytic domain of protein kinase C-zeta. The encoded protein contains an actin-binding site and an ATP-binding site. It is most closely related to twinfilin (PTK9), a conserved actin monomer-binding protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele are viable, fertile, and do not display obvious morphological or behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(33) : Gene trapped(33) |
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,901,696 (GRCm39) |
V900A |
probably benign |
Het |
| Adam28 |
C |
T |
14: 68,879,479 (GRCm39) |
A190T |
probably benign |
Het |
| Ager |
T |
C |
17: 34,817,541 (GRCm39) |
V116A |
probably damaging |
Het |
| Agt |
G |
T |
8: 125,291,065 (GRCm39) |
H81N |
probably benign |
Het |
| Apc2 |
T |
C |
10: 80,146,872 (GRCm39) |
V642A |
probably damaging |
Het |
| Atg4b |
C |
T |
1: 93,713,648 (GRCm39) |
T325M |
probably damaging |
Het |
| Atp10b |
A |
G |
11: 43,150,711 (GRCm39) |
S1470G |
probably benign |
Het |
| Cacul1 |
A |
G |
19: 60,533,942 (GRCm39) |
I220T |
probably benign |
Het |
| Ccdc7a |
T |
C |
8: 129,671,136 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
C |
19: 43,429,827 (GRCm39) |
D315A |
probably damaging |
Het |
| Fbxo24 |
A |
G |
5: 137,611,096 (GRCm39) |
F565L |
probably damaging |
Het |
| Fpr-rs4 |
T |
A |
17: 18,242,211 (GRCm39) |
S73T |
probably damaging |
Het |
| Gbp7 |
T |
C |
3: 142,248,889 (GRCm39) |
V384A |
probably benign |
Het |
| Gcnt2 |
A |
T |
13: 41,041,732 (GRCm39) |
H297L |
possibly damaging |
Het |
| Glo1 |
T |
C |
17: 30,831,518 (GRCm39) |
E3G |
probably benign |
Het |
| Gsdmc4 |
T |
C |
15: 63,772,196 (GRCm39) |
D161G |
probably benign |
Het |
| Ifi213 |
T |
A |
1: 173,396,392 (GRCm39) |
M561L |
probably benign |
Het |
| Ighv1-63 |
A |
G |
12: 115,459,478 (GRCm39) |
S40P |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,260,814 (GRCm39) |
L971P |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,336,917 (GRCm39) |
I1285N |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,566,708 (GRCm39) |
Y2004* |
probably null |
Het |
| Mindy1 |
C |
T |
3: 95,202,590 (GRCm39) |
L394F |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,852,450 (GRCm39) |
D846G |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,463,268 (GRCm39) |
E500G |
probably damaging |
Het |
| Myo18a |
C |
T |
11: 77,733,014 (GRCm39) |
T1348M |
probably damaging |
Het |
| Myo7b |
A |
T |
18: 32,093,129 (GRCm39) |
I2027N |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,069,580 (GRCm39) |
|
probably null |
Het |
| Obscn |
G |
A |
11: 58,929,592 (GRCm39) |
R5208C |
probably damaging |
Het |
| Parg |
G |
A |
14: 31,996,874 (GRCm39) |
D827N |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,226 (GRCm39) |
H473L |
probably benign |
Het |
| Pde4dip |
A |
G |
3: 97,625,645 (GRCm39) |
S1318P |
probably benign |
Het |
| Ppan |
T |
C |
9: 20,801,220 (GRCm39) |
S166P |
possibly damaging |
Het |
| Ppargc1b |
C |
A |
18: 61,448,939 (GRCm39) |
A128S |
probably damaging |
Het |
| Rdh16f2 |
T |
A |
10: 127,712,915 (GRCm39) |
D304E |
possibly damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,260,448 (GRCm39) |
L435Q |
probably damaging |
Het |
| Slc35d1 |
A |
T |
4: 103,065,333 (GRCm39) |
Y183N |
|
Het |
| Sspo |
T |
C |
6: 48,443,989 (GRCm39) |
S2166P |
possibly damaging |
Het |
| Tent5a |
A |
T |
9: 85,208,672 (GRCm39) |
N50K |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,607,147 (GRCm39) |
T4014M |
probably benign |
Het |
| Vmn1r3 |
T |
G |
4: 3,185,149 (GRCm39) |
T53P |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,880,428 (GRCm39) |
E86G |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,023,782 (GRCm39) |
Y530H |
probably damaging |
Het |
| Xdh |
A |
G |
17: 74,214,711 (GRCm39) |
F745L |
probably damaging |
Het |
| Xdh |
A |
C |
17: 74,233,541 (GRCm39) |
|
probably null |
Het |
| Zfp358 |
T |
C |
8: 3,545,568 (GRCm39) |
L50P |
probably damaging |
Het |
|
| Other mutations in Twf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01135:Twf2
|
APN |
9 |
106,090,027 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02616:Twf2
|
APN |
9 |
106,089,955 (GRCm39) |
nonsense |
probably null |
|
|
G5030:Twf2
|
UTSW |
9 |
106,084,141 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0139:Twf2
|
UTSW |
9 |
106,090,155 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1432:Twf2
|
UTSW |
9 |
106,092,012 (GRCm39) |
unclassified |
probably benign |
|
|
R4579:Twf2
|
UTSW |
9 |
106,090,025 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4969:Twf2
|
UTSW |
9 |
106,089,098 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4975:Twf2
|
UTSW |
9 |
106,089,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5831:Twf2
|
UTSW |
9 |
106,091,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6368:Twf2
|
UTSW |
9 |
106,090,032 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7026:Twf2
|
UTSW |
9 |
106,092,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Twf2
|
UTSW |
9 |
106,081,138 (GRCm39) |
intron |
probably benign |
|
|
R7439:Twf2
|
UTSW |
9 |
106,091,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7793:Twf2
|
UTSW |
9 |
106,089,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Twf2
|
UTSW |
9 |
106,090,010 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9252:Twf2
|
UTSW |
9 |
106,088,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0024:Twf2
|
UTSW |
9 |
106,090,168 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Twf2
|
UTSW |
9 |
106,090,203 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTGCATTGTAGATCCTGC -3'
(R):5'- GCAATTCCTTAGAGCCCAGG -3'
Sequencing Primer
(F):5'- TAGATCCTGCGGTTACCTAAGAG -3'
(R):5'- GCTGGGGAGGAAGGAAGTCC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation