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) question?
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*

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 null
Transcript: ENSMUST00000188650
AA Change: Q133*
SMART Domains Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277
AA Change: Q133*

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 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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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