Incidental Mutation 'IGL02616:Twf2'
ID |
300656 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Twf2
|
Ensembl Gene |
ENSMUSG00000023277 |
Gene Name |
twinfilin actin binding protein 2 |
Synonyms |
Ptk9l, Twinfilin-2, A6-related, Twf2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02616
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
106080307-106092586 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 106089955 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 103
(Q103*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000150626
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024047]
[ENSMUST00000187647]
[ENSMUST00000187944]
[ENSMUST00000188650]
[ENSMUST00000216348]
|
AlphaFold |
Q9Z0P5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024047
AA Change: Q135*
|
SMART Domains |
Protein: ENSMUSP00000024047 Gene: ENSMUSG00000023277 AA Change: Q135*
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 null
Transcript: ENSMUST00000188650
AA Change: Q133*
|
SMART Domains |
Protein: ENSMUSP00000140339 Gene: ENSMUSG00000023277 AA Change: Q133*
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 |
noncoding transcript
Transcript: ENSMUST00000189708
|
Predicted Effect |
probably null
Transcript: ENSMUST00000216348
AA Change: Q103*
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216541
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217523
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216850
|
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 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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003E16Rik |
A |
G |
6: 83,138,644 (GRCm39) |
R190G |
probably benign |
Het |
4931406B18Rik |
T |
C |
7: 43,150,437 (GRCm39) |
|
probably null |
Het |
Adcy4 |
T |
C |
14: 56,020,971 (GRCm39) |
|
probably null |
Het |
Ahnak |
C |
A |
19: 8,982,991 (GRCm39) |
P1425Q |
probably benign |
Het |
Arih1 |
A |
G |
9: 59,319,759 (GRCm39) |
V285A |
probably benign |
Het |
Atp13a1 |
T |
C |
8: 70,257,963 (GRCm39) |
V906A |
probably benign |
Het |
Atp2a2 |
A |
T |
5: 122,599,747 (GRCm39) |
I548N |
probably benign |
Het |
C2cd5 |
A |
T |
6: 142,980,837 (GRCm39) |
S643T |
probably benign |
Het |
Calcoco1 |
T |
C |
15: 102,624,285 (GRCm39) |
D210G |
probably damaging |
Het |
Cep128 |
A |
G |
12: 91,263,032 (GRCm39) |
I289T |
probably benign |
Het |
Ces1c |
C |
T |
8: 93,833,243 (GRCm39) |
M407I |
probably benign |
Het |
Cntln |
T |
G |
4: 85,033,689 (GRCm39) |
|
probably null |
Het |
Cypt12 |
T |
A |
3: 18,002,892 (GRCm39) |
H88Q |
possibly damaging |
Het |
Ddc |
T |
A |
11: 11,830,645 (GRCm39) |
|
probably benign |
Het |
Dnajb12 |
T |
C |
10: 59,728,685 (GRCm39) |
|
probably null |
Het |
Gata2 |
A |
G |
6: 88,182,462 (GRCm39) |
T477A |
possibly damaging |
Het |
Gckr |
A |
G |
5: 31,484,419 (GRCm39) |
D619G |
probably benign |
Het |
Gm5699 |
A |
T |
1: 31,037,432 (GRCm39) |
|
noncoding transcript |
Het |
Gm8257 |
T |
A |
14: 44,892,683 (GRCm39) |
S106C |
probably damaging |
Het |
Gpr15 |
A |
C |
16: 58,538,567 (GRCm39) |
L174R |
probably damaging |
Het |
Hnrnph3 |
T |
A |
10: 62,855,264 (GRCm39) |
H7L |
possibly damaging |
Het |
Ide |
A |
T |
19: 37,275,455 (GRCm39) |
I518N |
unknown |
Het |
Igdcc4 |
G |
A |
9: 65,040,360 (GRCm39) |
G957D |
probably damaging |
Het |
Igsf10 |
G |
A |
3: 59,226,027 (GRCm39) |
P2549S |
probably benign |
Het |
Kcnj9 |
A |
G |
1: 172,153,531 (GRCm39) |
S198P |
probably damaging |
Het |
Lclat1 |
T |
C |
17: 73,476,528 (GRCm39) |
I45T |
probably benign |
Het |
Met |
T |
C |
6: 17,553,346 (GRCm39) |
L1044S |
probably damaging |
Het |
Msh4 |
T |
C |
3: 153,563,160 (GRCm39) |
T739A |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,419,988 (GRCm39) |
E776G |
probably benign |
Het |
Ndufv3 |
G |
A |
17: 31,746,643 (GRCm39) |
V178M |
probably damaging |
Het |
Nlgn1 |
T |
C |
3: 25,488,409 (GRCm39) |
Y613C |
probably damaging |
Het |
Nmbr |
T |
C |
10: 14,636,431 (GRCm39) |
|
probably benign |
Het |
Orc1 |
T |
A |
4: 108,452,676 (GRCm39) |
W184R |
probably benign |
Het |
Pde6b |
T |
C |
5: 108,579,407 (GRCm39) |
S850P |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
Pnpt1 |
T |
C |
11: 29,085,505 (GRCm39) |
|
probably benign |
Het |
Pomt2 |
T |
A |
12: 87,171,636 (GRCm39) |
H378L |
probably damaging |
Het |
Sh3gl3 |
C |
T |
7: 81,934,226 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
A |
T |
6: 12,408,984 (GRCm39) |
N679K |
probably damaging |
Het |
Tns2 |
T |
C |
15: 102,019,850 (GRCm39) |
M572T |
probably benign |
Het |
Uncx |
T |
C |
5: 139,532,523 (GRCm39) |
I196T |
possibly damaging |
Het |
Urgcp |
A |
G |
11: 5,667,400 (GRCm39) |
S313P |
probably damaging |
Het |
Vmn1r222 |
A |
T |
13: 23,416,311 (GRCm39) |
C301S |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,790,031 (GRCm39) |
Q325L |
possibly damaging |
Het |
Vps4a |
C |
T |
8: 107,768,909 (GRCm39) |
R236W |
probably damaging |
Het |
Wdr19 |
T |
A |
5: 65,380,924 (GRCm39) |
H344Q |
probably damaging |
Het |
Wiz |
A |
T |
17: 32,578,443 (GRCm39) |
D356E |
probably damaging |
Het |
Zc3h10 |
T |
C |
10: 128,380,751 (GRCm39) |
E202G |
probably benign |
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 |
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 |
R9357:Twf2
|
UTSW |
9 |
106,092,100 (GRCm39) |
missense |
probably benign |
0.06 |
X0024:Twf2
|
UTSW |
9 |
106,090,168 (GRCm39) |
missense |
probably benign |
|
Z1177:Twf2
|
UTSW |
9 |
106,090,203 (GRCm39) |
missense |
probably benign |
0.09 |
|
Posted On |
2015-04-16 |