Incidental Mutation 'R7893:Twf1'
ID 609470
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 045945-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7893 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 94475829-94487727 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 94482327 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 140 (S140T)
Ref Sequence ENSEMBL: ENSMUSP00000023087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023087] [ENSMUST00000109248] [ENSMUST00000152590]
AlphaFold Q91YR1
PDB Structure CRYSTAL STRUCTURE OF THE N-TERMINAL ADF-H DOMAIN OF MOUSE TWINFILIN ISOFORM-1 [X-RAY DIFFRACTION]
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: S140T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
AA Change: S140T

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 possibly damaging
Transcript: ENSMUST00000152590
AA Change: S114T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119302
Gene: ENSMUSG00000022451
AA Change: S114T

DomainStartEndE-ValueType
ADF 1 113 1.9e-16 SMART
Meta Mutation Damage Score 0.0739 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A T 17: 24,604,440 (GRCm39) I604F probably damaging Het
Adar T A 3: 89,657,958 (GRCm39) D1062E probably damaging Het
Agap2 A G 10: 126,916,064 (GRCm39) T192A unknown Het
Aim2 T C 1: 173,291,492 (GRCm39) V299A possibly damaging Het
Arhgap33 T C 7: 30,228,201 (GRCm39) I394V probably benign Het
Atg2a T C 19: 6,301,326 (GRCm39) F800S probably damaging Het
Btnl10 T A 11: 58,814,635 (GRCm39) N438K probably benign Het
C9 T A 15: 6,512,726 (GRCm39) F283I possibly damaging Het
Camk2n2 T C 16: 20,439,826 (GRCm39) N40S possibly damaging Het
Cd53 T A 3: 106,674,702 (GRCm39) I122F probably benign Het
Col4a1 T C 8: 11,270,243 (GRCm39) D45G unknown Het
Copa T A 1: 171,947,132 (GRCm39) C1085* probably null Het
Cpt1b A G 15: 89,307,857 (GRCm39) probably null Het
Cyp24a1 C G 2: 170,338,436 (GRCm39) probably null Het
Cyp2c40 A T 19: 39,775,292 (GRCm39) V320E probably damaging Het
Efcab3 A C 11: 104,870,186 (GRCm39) S3985R unknown Het
Efcab7 A T 4: 99,746,058 (GRCm39) D210V probably damaging Het
Elfn2 G A 15: 78,557,368 (GRCm39) T393I probably damaging Het
Fbxw11 A T 11: 32,670,489 (GRCm39) I152L probably benign Het
Gab1 A T 8: 81,511,395 (GRCm39) F483L possibly damaging Het
Git2 G T 5: 114,907,737 (GRCm39) R43S possibly damaging Het
Gm43302 G A 5: 105,436,891 (GRCm39) Q72* probably null Het
Hcn2 T C 10: 79,560,245 (GRCm39) L192P probably damaging Het
Htra4 A C 8: 25,523,695 (GRCm39) F290C possibly damaging Het
Ide C T 19: 37,261,550 (GRCm39) V731I Het
Igsf9 T C 1: 172,324,869 (GRCm39) L929P probably damaging Het
Iqgap2 G A 13: 95,826,217 (GRCm39) A535V probably damaging Het
Itga10 T C 3: 96,556,928 (GRCm39) W217R probably damaging Het
Kdm2b A G 5: 123,085,802 (GRCm39) F276L probably benign Het
Klf16 T C 10: 80,412,794 (GRCm39) S81G probably benign Het
L1td1 G T 4: 98,621,978 (GRCm39) C180F possibly damaging Het
Map4k2 A C 19: 6,403,541 (GRCm39) H817P probably damaging Het
Marf1 A T 16: 13,964,599 (GRCm39) V446D probably damaging Het
Mfsd4b1 A G 10: 39,883,313 (GRCm39) S46P probably benign Het
Mylk G C 16: 34,699,894 (GRCm39) S419T probably benign Het
Nckipsd A G 9: 108,692,588 (GRCm39) H604R probably damaging Het
Nedd9 A T 13: 41,469,265 (GRCm39) D629E probably damaging Het
Nlrp5 C T 7: 23,117,590 (GRCm39) T438I probably benign Het
Or4a39 T A 2: 89,237,414 (GRCm39) Q3L probably benign Het
Or51ag1 A T 7: 103,155,817 (GRCm39) I112N possibly damaging Het
Or5p79 A G 7: 108,221,844 (GRCm39) K275R probably damaging Het
Otud7a G T 7: 63,408,300 (GRCm39) D868Y probably damaging Het
Pcdhga6 T C 18: 37,841,066 (GRCm39) L262S probably damaging Het
Plec C T 15: 76,056,732 (GRCm39) V4402I possibly damaging Het
Ppp1r14c A T 10: 3,373,510 (GRCm39) D107V probably damaging Het
Prkg1 A T 19: 30,563,767 (GRCm39) C482S probably damaging Het
Prpf40a A T 2: 53,046,853 (GRCm39) N294K probably benign Het
Rbpj A G 5: 53,803,216 (GRCm39) Y148C probably damaging Het
Rnf19a A G 15: 36,241,814 (GRCm39) S742P possibly damaging Het
Rnf207 T A 4: 152,395,895 (GRCm39) Q533L probably damaging Het
Rsf1 A G 7: 97,311,165 (GRCm39) T632A Het
Rtl1 C T 12: 109,560,355 (GRCm39) V495I possibly damaging Het
Sh2d3c T A 2: 32,639,388 (GRCm39) C491* probably null Het
Sik1 A T 17: 32,069,020 (GRCm39) L285Q probably benign Het
Sipa1l1 T A 12: 82,388,342 (GRCm39) D189E probably benign Het
Slc25a25 G A 2: 32,341,177 (GRCm39) Q54* probably null Het
Slu7 T C 11: 43,335,663 (GRCm39) probably null Het
Sorbs3 T A 14: 70,431,365 (GRCm39) N265I probably benign Het
Spata31g1 T C 4: 42,971,539 (GRCm39) W291R probably damaging Het
Sspo A T 6: 48,440,244 (GRCm39) E1645V probably benign Het
Swap70 A G 7: 109,821,082 (GRCm39) D22G probably benign Het
Ttc34 T C 4: 154,945,757 (GRCm39) C264R probably benign Het
Ttll2 T A 17: 7,619,490 (GRCm39) T146S probably benign Het
Ttn C T 2: 76,757,548 (GRCm39) E3402K unknown Het
Vmn1r12 T C 6: 57,136,419 (GRCm39) L172P probably damaging Het
Vmn1r19 T A 6: 57,381,664 (GRCm39) N72K probably damaging Het
Vmn2r17 G A 5: 109,575,944 (GRCm39) E272K probably benign Het
Zfp747l1 T A 7: 126,985,716 (GRCm39) probably benign Het
Zfpm2 A G 15: 40,966,008 (GRCm39) D831G 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
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
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
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
(F):5'- AACCTAAGGGACCCAACTTG -3'
(R):5'- AGACAGAAGATGTATGCTTCCTGC -3'

Sequencing Primer
(F):5'- CCAACTTGTGGGTCCCCC -3'
(R):5'- ATGCAGTTGTTCTGAAGCCC -3'
Posted On 2019-12-20