Incidental Mutation 'R4787:Twf1'
ID367201
Institutional Source Beutler Lab
Gene Symbol Twf1
Ensembl Gene ENSMUSG00000022451
Gene Nametwinfilin actin binding protein 1
Synonymsactin monomer-binding protein, A6, Twinfilin-1, Ptk9, twinfilin
MMRRC Submission 041975-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4787 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location94577951-94589889 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 94584434 bp
ZygosityHeterozygous
Amino Acid Change Proline to Threonine at position 144 (P144T)
Ref Sequence ENSEMBL: ENSMUSP00000023087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023087] [ENSMUST00000109248] [ENSMUST00000152590]
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 damaging
Transcript: ENSMUST00000023087
AA Change: P144T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023087
Gene: ENSMUSG00000022451
AA Change: P144T

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
Meta Mutation Damage Score 0.4872 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 100% (72/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700030K09Rik C A 8: 72,445,164 Y138* probably null Het
4933440M02Rik T C 7: 125,331,542 noncoding transcript Het
Amy2b T C 3: 113,151,318 noncoding transcript Het
Anxa1 T A 19: 20,373,754 D334V probably damaging Het
Atoh8 T C 6: 72,223,777 T310A possibly damaging Het
BC002059 G A 17: 16,973,548 noncoding transcript Het
C87499 T A 4: 88,629,213 K74* probably null Het
Ccdc40 A G 11: 119,253,621 D924G possibly damaging Het
Ccm2l A T 2: 153,079,502 M433L probably benign Het
Cd209e T C 8: 3,851,181 S158G probably null Het
Cdkn2a C T 4: 89,276,718 R153H unknown Het
Cfap69 A G 5: 5,646,934 probably null Het
Col6a5 T C 9: 105,931,081 T923A unknown Het
Cybb C G X: 9,450,750 D246H probably benign Het
Ddrgk1 A G 2: 130,658,328 F216S probably damaging Het
Dysf T A 6: 84,203,328 C1995* probably null Het
Epb41l5 G A 1: 119,595,995 P467S probably benign Het
Extl1 G A 4: 134,364,667 L292F probably damaging Het
Fsd1 A G 17: 55,996,257 N409D possibly damaging Het
Gm15455 A T 1: 33,837,722 noncoding transcript Het
Gm5514 C A 19: 21,938,237 noncoding transcript Het
Gm8894 A G 14: 55,420,715 noncoding transcript Het
Gm8979 T C 7: 106,081,834 noncoding transcript Het
Gtf3c2 C T 5: 31,157,577 S942N probably benign Het
H2-Ab1 A T 17: 34,267,467 T167S possibly damaging Het
Ighv8-9 C T 12: 115,468,514 R59H probably damaging Het
Igsf9b G A 9: 27,317,456 V171I probably benign Het
Il31ra C T 13: 112,527,545 E533K possibly damaging Het
Iqgap1 A C 7: 80,735,513 L1022R probably damaging Het
Kcna4 T C 2: 107,296,468 F516L probably damaging Het
Kmt2e A G 5: 23,463,083 T47A possibly damaging Het
L3mbtl2 A G 15: 81,663,974 probably benign Het
Lipo1 T A 19: 33,780,349 Q240L probably benign Het
Lpar5 A G 6: 125,082,498 probably null Het
Lrrk2 A G 15: 91,712,828 D541G probably benign Het
Med9 T A 11: 59,948,440 N58K probably benign Het
Meig1 A G 2: 3,409,214 V83A possibly damaging Het
Natd1 A C 11: 60,906,996 C34W probably damaging Het
Nup205 T A 6: 35,202,061 C689S probably damaging Het
Olfr1161 T C 2: 88,024,860 M46T possibly damaging Het
Olfr1199 T A 2: 88,755,875 K267* probably null Het
Olfr2 G A 7: 107,001,086 A258V probably benign Het
Olfr654 T C 7: 104,587,960 M52T probably benign Het
Pdgfrb A C 18: 61,079,687 S888R probably damaging Het
Plppr4 T C 3: 117,322,330 E626G probably damaging Het
Ppfia3 C A 7: 45,340,626 A1159S possibly damaging Het
Prex1 A G 2: 166,638,340 V160A probably benign Het
Psmb7 C T 2: 38,588,271 C247Y probably benign Het
Rbm33 C T 5: 28,342,437 probably null Het
Rfc5 T C 5: 117,382,420 T236A probably benign Het
Sdk1 G T 5: 141,582,413 R122L probably benign Het
Sh3bp1 T C 15: 78,907,995 S451P possibly damaging Het
Smap1 G T 1: 23,849,266 probably benign Het
Smc2 T A 4: 52,462,927 V639E probably damaging Het
Synpo2l T A 14: 20,661,697 Q511L possibly damaging Het
Taok2 G A 7: 126,868,132 S167L possibly damaging Het
Tbc1d17 G A 7: 44,843,064 P392S probably benign Het
Tef T A 15: 81,823,557 I261N probably damaging Het
Tmbim1 T C 1: 74,295,360 N14D possibly damaging Het
Tmprss11c T C 5: 86,256,453 K121R probably benign Het
Trim36 C A 18: 46,172,532 M461I probably benign Het
Trpc1 T A 9: 95,721,415 M355L probably benign Het
Tspyl4 A C 10: 34,297,764 D84A probably benign Het
Ugt1a7c T C 1: 88,095,670 C184R probably damaging Het
Unc79 C T 12: 103,046,998 P283S probably damaging Het
Usp45 T C 4: 21,796,860 C49R probably benign Het
Wdr11 T A 7: 129,608,934 probably benign Het
Wdr27 A T 17: 14,932,554 M97K possibly damaging Het
Other mutations in Twf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00495:Twf1 APN 15 94580936 unclassified probably benign
IGL02732:Twf1 APN 15 94581009 missense probably damaging 1.00
R0122:Twf1 UTSW 15 94586549 splice site probably benign
R0184:Twf1 UTSW 15 94581067 critical splice acceptor site probably null
R0507:Twf1 UTSW 15 94585530 missense probably damaging 1.00
R0742:Twf1 UTSW 15 94585530 missense probably damaging 1.00
R1200:Twf1 UTSW 15 94586358 missense probably benign 0.05
R1858:Twf1 UTSW 15 94585547 splice site probably benign
R2005:Twf1 UTSW 15 94585447 critical splice donor site probably null
R2290:Twf1 UTSW 15 94586519 missense probably damaging 0.98
R3732:Twf1 UTSW 15 94584414 unclassified probably benign
R7782:Twf1 UTSW 15 94582773 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TTGCTTCTGAAAACACGTAAAGCAC -3'
(R):5'- CAGTTGTTCTGAAGCCCTCG -3'

Sequencing Primer
(F):5'- AGCACACAGATCAGTTTTTAACC -3'
(R):5'- CTCGGCACAGGGCAGAAG -3'
Posted On2015-12-29