Incidental Mutation 'R1200:Twf1'
ID 101327
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 039270-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1200 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 94475829-94487727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94484239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 94 (H94Q)
Ref Sequence ENSEMBL: ENSMUSP00000023087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023087] [ENSMUST00000109248] [ENSMUST00000152590]
AlphaFold Q91YR1
Solution structure of the second tandem cofilin-domain of mouse twinfilin [SOLUTION NMR]
Solution structure of C-teminal domain of twinfilin-1. [SOLUTION NMR]
Structure of the actin-depolymerizing factor homology domain in complex with actin [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000023087
AA Change: H94Q

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
AA Change: H94Q

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

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
AA Change: H68Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451
AA Change: H68Q

ADF 1 113 1.9e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155654
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.2%
Validation Efficiency
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,536 (GRCm39) F309S unknown Het
Abcc2 A T 19: 43,822,426 (GRCm39) Q1421H probably damaging Het
Acat1 T A 9: 53,494,810 (GRCm39) I361F possibly damaging Het
Akp3 T A 1: 87,052,982 (GRCm39) I57N probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Axin2 C A 11: 108,822,376 (GRCm39) D309E probably damaging Het
Clstn3 G T 6: 124,436,129 (GRCm39) P207T probably damaging Het
Dip2b C A 15: 100,107,626 (GRCm39) A1212E probably benign Het
Dnah5 A G 15: 28,246,403 (GRCm39) I580M possibly damaging Het
Dpp3 T C 19: 4,973,157 (GRCm39) T146A probably benign Het
Fam227a A G 15: 79,496,738 (GRCm39) F613S possibly damaging Het
Fam83b T C 9: 76,399,594 (GRCm39) D503G probably damaging Het
Flot2 C T 11: 77,945,631 (GRCm39) T2M probably damaging Het
Herc1 T C 9: 66,393,406 (GRCm39) L4095S probably damaging Het
Kcnh7 T C 2: 62,607,739 (GRCm39) Y614C probably damaging Het
Lcp1 T A 14: 75,466,742 (GRCm39) F616L possibly damaging Het
Myh15 T A 16: 48,916,882 (GRCm39) Y401N probably damaging Het
Neb T C 2: 52,057,657 (GRCm39) Y6144C probably damaging Het
Nr1h5 A G 3: 102,855,178 (GRCm39) F308L probably damaging Het
Ntn5 G T 7: 45,341,806 (GRCm39) V309L possibly damaging Het
Or51aa2 T A 7: 103,188,274 (GRCm39) T56S probably benign Het
Or8k21 A T 2: 86,145,477 (GRCm39) L51Q probably damaging Het
Pex1 G A 5: 3,656,411 (GRCm39) probably null Het
Pld1 A T 3: 28,103,435 (GRCm39) D380V probably damaging Het
Prdm1 A G 10: 44,326,126 (GRCm39) Y148H probably damaging Het
Ptchd3 T C 11: 121,722,087 (GRCm39) probably null Het
Rnf17 C T 14: 56,705,163 (GRCm39) T689I probably benign Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Vmn2r13 T G 5: 109,322,068 (GRCm39) I210L probably damaging Het
Zbtb49 T C 5: 38,370,675 (GRCm39) E402G probably damaging 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
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
R3732:Twf1 UTSW 15 94,482,295 (GRCm39) unclassified probably benign
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 PCR Primer

Sequencing Primer
Posted On 2014-01-15