Incidental Mutation 'R3732:Twf1'
ID 473425
Institutional Source Beutler Lab
Gene Symbol Twf1
Ensembl Gene ENSMUSG00000022451
Gene Name twinfilin actin binding protein 1
Synonyms twinfilin, actin monomer-binding protein, Twinfilin-1, Ptk9, A6
MMRRC Submission 040720-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3732 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 94475829-94487727 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 94482295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023087] [ENSMUST00000109248] [ENSMUST00000152590]
AlphaFold Q91YR1
Predicted Effect silent
Transcript: ENSMUST00000023087
SMART Domains Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451

DomainStartEndE-ValueType
ADF 11 139 4.74e-35 SMART
ADF 184 313 6.22e-30 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109248
SMART Domains Protein: ENSMUSP00000104871
Gene: ENSMUSG00000059883

DomainStartEndE-ValueType
Pfam:Death 20 101 1.6e-6 PFAM
Pfam:Pkinase_Tyr 187 452 1.9e-51 PFAM
Pfam:Pkinase 188 452 1.3e-54 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127347
Predicted Effect probably benign
Transcript: ENSMUST00000152590
SMART Domains Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451

DomainStartEndE-ValueType
ADF 1 113 1.9e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155654
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (44/44)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes twinfilin, an actin monomer-binding protein conserved from yeast to mammals. Studies of the mouse counterpart suggest that this protein may be an actin monomer-binding protein, and its localization to cortical G-actin-rich structures may be regulated by the small GTPase RAC1. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Adgrl3 C A 5: 81,942,793 (GRCm39) H1474Q probably benign Het
Adgrv1 T C 13: 81,705,075 (GRCm39) I1578M probably damaging Het
Arhgef10l AGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGA 4: 140,308,930 (GRCm39) probably benign Het
Bcl7b A G 5: 135,209,767 (GRCm39) T141A probably benign Het
Cfap97d1 C T 11: 101,879,278 (GRCm39) Q17* probably null Het
Chrna3 T C 9: 54,923,178 (GRCm39) K210R probably benign Het
Cpsf2 T C 12: 101,953,567 (GRCm39) I199T probably damaging Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Cyp2s1 C T 7: 25,503,379 (GRCm39) R424Q probably null Het
D1Pas1 C A 1: 186,700,294 (GRCm39) S74R probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Espl1 A G 15: 102,221,424 (GRCm39) I944V probably damaging Het
Fat1 T C 8: 45,406,306 (GRCm39) V1019A possibly damaging Het
Fbxl21 T A 13: 56,674,830 (GRCm39) H60Q probably benign Het
Fbxw7 A C 3: 84,833,014 (GRCm39) K19Q possibly damaging Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Gria4 C T 9: 4,513,295 (GRCm39) M271I probably benign Het
Herc1 C T 9: 66,352,922 (GRCm39) T2136I probably damaging Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itih2 A T 2: 10,110,481 (GRCm39) F537I probably benign Het
Itpr2 T C 6: 146,284,198 (GRCm39) D533G probably damaging Het
Kcnk15 A G 2: 163,695,733 (GRCm39) K22E probably benign Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lars1 T C 18: 42,345,667 (GRCm39) E1003G probably benign Het
Layn T A 9: 50,970,844 (GRCm39) N233I probably damaging Het
Lgi1 T C 19: 38,294,694 (GRCm39) Y465H probably damaging Het
Lrig1 C T 6: 94,588,557 (GRCm39) A531T possibly damaging Het
Mtx2 C A 2: 74,677,606 (GRCm39) A22E probably damaging Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Ola1 G C 2: 72,987,204 (GRCm39) R143G probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pcdh18 T C 3: 49,709,240 (GRCm39) S692G probably benign Het
Pkd2 G A 5: 104,637,285 (GRCm39) probably null Het
Ppp1r9a T C 6: 4,906,259 (GRCm39) probably benign Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Sfxn5 T C 6: 85,276,258 (GRCm39) probably benign Het
Shf T A 2: 122,175,688 (GRCm39) probably benign Het
Siah2 A G 3: 58,583,671 (GRCm39) V205A probably damaging Het
Slc44a4 G A 17: 35,140,537 (GRCm39) silent Het
Spindoc A C 19: 7,351,666 (GRCm39) L202R probably damaging Het
Spock3 T A 8: 63,798,733 (GRCm39) D251E probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Trpc3 A T 3: 36,692,708 (GRCm39) D761E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vps50 T C 6: 3,519,243 (GRCm39) silent Het
Wapl G A 14: 34,458,721 (GRCm39) V928I probably damaging Het
Zfand3 A G 17: 30,411,630 (GRCm39) K130R probably benign Het
Other mutations in Twf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Twf1 APN 15 94,478,817 (GRCm39) unclassified probably benign
IGL02732:Twf1 APN 15 94,478,890 (GRCm39) missense probably damaging 1.00
R0122:Twf1 UTSW 15 94,484,430 (GRCm39) splice site probably benign
R0184:Twf1 UTSW 15 94,478,948 (GRCm39) critical splice acceptor site probably null
R0507:Twf1 UTSW 15 94,483,411 (GRCm39) missense probably damaging 1.00
R0742:Twf1 UTSW 15 94,483,411 (GRCm39) missense probably damaging 1.00
R1200:Twf1 UTSW 15 94,484,239 (GRCm39) missense probably benign 0.05
R1858:Twf1 UTSW 15 94,483,428 (GRCm39) splice site probably benign
R2005:Twf1 UTSW 15 94,483,328 (GRCm39) critical splice donor site probably null
R2290:Twf1 UTSW 15 94,484,400 (GRCm39) missense probably damaging 0.98
R4787:Twf1 UTSW 15 94,482,315 (GRCm39) missense probably damaging 1.00
R7782:Twf1 UTSW 15 94,480,654 (GRCm39) missense probably benign 0.05
R7893:Twf1 UTSW 15 94,482,327 (GRCm39) missense probably benign 0.00
R8177:Twf1 UTSW 15 94,482,276 (GRCm39) missense possibly damaging 0.75
R8415:Twf1 UTSW 15 94,477,702 (GRCm39) makesense probably null
R8729:Twf1 UTSW 15 94,479,212 (GRCm39) missense probably benign
R8768:Twf1 UTSW 15 94,479,110 (GRCm39) missense probably damaging 1.00
R8803:Twf1 UTSW 15 94,479,136 (GRCm39) missense probably damaging 1.00
R9150:Twf1 UTSW 15 94,484,274 (GRCm39) missense probably damaging 1.00
R9378:Twf1 UTSW 15 94,483,336 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2017-04-14