Incidental Mutation 'IGL01135:Twf2'
ID 51986
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, Twf2, A6-related
Accession Numbers

Genbank: NM_011876
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01135
Quality Score
Status
Chromosome 9
Chromosomal Location 106203108-106215389 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106212828 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 127 (I127V)
Ref Sequence ENSEMBL: ENSMUSP00000150626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024047] [ENSMUST00000187647] [ENSMUST00000187944] [ENSMUST00000188650] [ENSMUST00000216348]
AlphaFold Q9Z0P5
Predicted Effect probably benign
Transcript: ENSMUST00000024047
AA Change: I159V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024047
Gene: ENSMUSG00000023277
AA Change: I159V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: I157V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277
AA Change: I157V

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000216348
AA Change: I127V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216541
Predicted Effect probably benign
Transcript: ENSMUST00000216850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217523
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
5730507C01Rik G A 12: 18,533,374 R145H possibly damaging Het
Acox3 T A 5: 35,588,752 V93E probably benign Het
Ankar T C 1: 72,665,219 N848S probably benign Het
Blzf1 A G 1: 164,303,930 probably benign Het
Cc2d1a G T 8: 84,143,404 H161N probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Ckmt1 A C 2: 121,361,150 D267A probably damaging Het
Dtl G T 1: 191,548,330 T364K probably damaging Het
Fam46a A G 9: 85,326,599 V57A probably damaging Het
Fat1 T A 8: 45,024,840 F2308I probably damaging Het
Fbxo41 A T 6: 85,477,908 S673T probably benign Het
Flnb G A 14: 7,909,736 V1397I probably benign Het
Gdi2 A G 13: 3,548,855 probably benign Het
Gm5155 A T 7: 17,902,471 noncoding transcript Het
Grik3 C T 4: 125,632,415 T147I probably benign Het
Htr1a T C 13: 105,445,284 V344A possibly damaging Het
Isg20l2 A T 3: 87,931,761 D93V probably damaging Het
Kcnt2 T C 1: 140,354,555 probably null Het
Mfsd4b3 A G 10: 39,948,072 M64T probably benign Het
Nox3 T A 17: 3,696,252 probably benign Het
Olfr693 C T 7: 106,678,193 A98T probably benign Het
Pikfyve T A 1: 65,251,635 N1204K probably damaging Het
Pou4f3 C T 18: 42,395,966 Q325* probably null Het
Rap1a T A 3: 105,732,035 T103S probably benign Het
Rfc4 G A 16: 23,115,776 R165C probably damaging Het
Smtnl1 A G 2: 84,818,887 S8P probably benign Het
Syt17 C T 7: 118,382,047 G351S possibly damaging Het
Tcf20 T A 15: 82,853,900 M1117L probably benign Het
Tgfbr3 A T 5: 107,215,028 H39Q probably damaging Het
Trdmt1 T C 2: 13,521,260 probably null Het
Unc13c A G 9: 73,484,893 V2059A probably damaging Het
Other mutations in Twf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Twf2 APN 9 106212756 nonsense probably null
G5030:Twf2 UTSW 9 106206942 missense possibly damaging 0.66
R0139:Twf2 UTSW 9 106212956 missense possibly damaging 0.69
R1432:Twf2 UTSW 9 106214813 unclassified probably benign
R4579:Twf2 UTSW 9 106212826 missense probably benign 0.20
R4969:Twf2 UTSW 9 106211899 critical splice donor site probably null
R4975:Twf2 UTSW 9 106212340 missense probably damaging 1.00
R5831:Twf2 UTSW 9 106214187 missense probably benign 0.00
R6368:Twf2 UTSW 9 106212833 missense probably benign 0.33
R7026:Twf2 UTSW 9 106214880 missense probably damaging 1.00
R7338:Twf2 UTSW 9 106203939 intron probably benign
R7439:Twf2 UTSW 9 106214398 missense probably damaging 1.00
R7793:Twf2 UTSW 9 106211880 missense probably damaging 1.00
R8743:Twf2 UTSW 9 106212811 missense possibly damaging 0.77
R9252:Twf2 UTSW 9 106211800 missense probably benign 0.01
R9357:Twf2 UTSW 9 106214901 missense probably benign 0.06
X0024:Twf2 UTSW 9 106212969 missense probably benign
Z1177:Twf2 UTSW 9 106213004 missense probably benign 0.09
Posted On 2013-06-21