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, A6-related, Twf2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01135
Quality Score
Status
Chromosome 9
Chromosomal Location 106080307-106092586 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106090027 bp (GRCm39)
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: ENSMUST00000217523
Predicted Effect probably benign
Transcript: ENSMUST00000216850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216541
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: 76,834,475 (GRCm39) V124I probably damaging Het
5730507C01Rik G A 12: 18,583,375 (GRCm39) R145H possibly damaging Het
Acox3 T A 5: 35,746,096 (GRCm39) V93E probably benign Het
Ankar T C 1: 72,704,378 (GRCm39) N848S probably benign Het
Blzf1 A G 1: 164,131,499 (GRCm39) probably benign Het
Cc2d1a G T 8: 84,870,033 (GRCm39) H161N probably benign Het
Ceacam23 A T 7: 17,636,396 (GRCm39) noncoding transcript Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Ckmt1 A C 2: 121,191,631 (GRCm39) D267A probably damaging Het
Dtl G T 1: 191,280,442 (GRCm39) T364K probably damaging Het
Fat1 T A 8: 45,477,877 (GRCm39) F2308I probably damaging Het
Fbxo41 A T 6: 85,454,890 (GRCm39) S673T probably benign Het
Flnb G A 14: 7,909,736 (GRCm38) V1397I probably benign Het
Gdi2 A G 13: 3,598,855 (GRCm39) probably benign Het
Grik3 C T 4: 125,526,208 (GRCm39) T147I probably benign Het
Htr1a T C 13: 105,581,792 (GRCm39) V344A possibly damaging Het
Isg20l2 A T 3: 87,839,068 (GRCm39) D93V probably damaging Het
Kcnt2 T C 1: 140,282,293 (GRCm39) probably null Het
Mfsd4b3-ps A G 10: 39,824,068 (GRCm39) M64T probably benign Het
Nox3 T A 17: 3,746,527 (GRCm39) probably benign Het
Or2ag12 C T 7: 106,277,400 (GRCm39) A98T probably benign Het
Pikfyve T A 1: 65,290,794 (GRCm39) N1204K probably damaging Het
Pou4f3 C T 18: 42,529,031 (GRCm39) Q325* probably null Het
Rap1a T A 3: 105,639,351 (GRCm39) T103S probably benign Het
Rfc4 G A 16: 22,934,526 (GRCm39) R165C probably damaging Het
Smtnl1 A G 2: 84,649,231 (GRCm39) S8P probably benign Het
Syt17 C T 7: 117,981,270 (GRCm39) G351S possibly damaging Het
Tcf20 T A 15: 82,738,101 (GRCm39) M1117L probably benign Het
Tent5a A G 9: 85,208,652 (GRCm39) V57A probably damaging Het
Tgfbr3 A T 5: 107,362,894 (GRCm39) H39Q probably damaging Het
Trdmt1 T C 2: 13,526,071 (GRCm39) probably null Het
Unc13c A G 9: 73,392,175 (GRCm39) V2059A probably damaging Het
Other mutations in Twf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-06-21