Incidental Mutation 'R7338:Twf2'
ID 591021
Institutional Source Beutler Lab
Gene Symbol Twf2
Ensembl Gene ENSMUSG00000023277
Gene Name twinfilin actin binding protein 2
Synonyms Ptk9l, Twinfilin-2, A6-related, Twf2
MMRRC Submission 045428-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7338 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 106080307-106092586 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 106081138 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000150626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024047] [ENSMUST00000076258] [ENSMUST00000140761] [ENSMUST00000187647] [ENSMUST00000187944] [ENSMUST00000188650] [ENSMUST00000216348]
AlphaFold Q9Z0P5
Predicted Effect probably benign
Transcript: ENSMUST00000024047
SMART Domains Protein: ENSMUSP00000024047
Gene: ENSMUSG00000023277

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: ENSMUST00000076258
SMART Domains Protein: ENSMUSP00000075607
Gene: ENSMUSG00000020253

DomainStartEndE-ValueType
PP2Cc 14 394 7.38e-44 SMART
PP2C_SIG 50 396 1.51e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000140761
SMART Domains Protein: ENSMUSP00000117908
Gene: ENSMUSG00000020253

DomainStartEndE-ValueType
PP2Cc 60 450 8.04e-45 SMART
PP2C_SIG 106 452 1.51e-3 SMART
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 unknown
Transcript: ENSMUST00000187944
AA Change: T19A
Predicted Effect probably benign
Transcript: ENSMUST00000188650
SMART Domains Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277

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 probably benign
Transcript: ENSMUST00000213197
Predicted Effect probably benign
Transcript: ENSMUST00000216348
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (54/55)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,595,717 (GRCm39) S357P possibly damaging Het
Arhgap28 T C 17: 68,203,106 (GRCm39) R166G probably damaging Het
Bcan T A 3: 87,901,550 (GRCm39) E384V probably damaging Het
Bcl9l A G 9: 44,420,005 (GRCm39) N1137S probably benign Het
Caprin1 A G 2: 103,609,768 (GRCm39) L170S probably benign Het
Card6 C T 15: 5,129,354 (GRCm39) E681K probably benign Het
Catsperb G A 12: 101,447,243 (GRCm39) V248I probably benign Het
Ccnj T A 19: 40,825,477 (GRCm39) H62Q probably damaging Het
Cd180 A C 13: 102,842,936 (GRCm39) I661L probably benign Het
Cdk11b A G 4: 155,732,008 (GRCm39) R473G unknown Het
Cep126 T C 9: 8,099,799 (GRCm39) T912A possibly damaging Het
Chek2 T A 5: 111,021,380 (GRCm39) V530E probably benign Het
Chga G T 12: 102,529,100 (GRCm39) S359I probably damaging Het
Cnrip1 T C 11: 17,004,657 (GRCm39) V69A probably damaging Het
Cyp2a5 A T 7: 26,542,372 (GRCm39) Q458L probably damaging Het
Cyp2j11 T A 4: 96,195,524 (GRCm39) T391S possibly damaging Het
Dhx16 T C 17: 36,199,036 (GRCm39) L794P probably damaging Het
Dscaml1 A G 9: 45,585,802 (GRCm39) T580A probably benign Het
Elmo1 A T 13: 20,464,982 (GRCm39) I184L probably benign Het
Gabra1 C T 11: 42,073,121 (GRCm39) G51S unknown Het
Gabrr3 C A 16: 59,268,439 (GRCm39) L351I possibly damaging Het
Gbp7 A T 3: 142,243,786 (GRCm39) N111I probably damaging Het
Gjd2 C T 2: 113,841,583 (GRCm39) R298H probably damaging Het
Gm5930 T C 14: 44,573,914 (GRCm39) Y141C probably damaging Het
Grin3a G T 4: 49,771,238 (GRCm39) N511K probably benign Het
Hdac7 T C 15: 97,707,903 (GRCm39) D122G probably benign Het
Ifi204 G A 1: 173,587,703 (GRCm39) T152I possibly damaging Het
Lrrc9 C T 12: 72,510,305 (GRCm39) probably null Het
Med21 T A 6: 146,544,082 (GRCm39) probably benign Het
Mmp19 A T 10: 128,634,952 (GRCm39) T523S probably benign Het
Nav3 G A 10: 109,605,073 (GRCm39) T1000I probably benign Het
Nherf2 T A 17: 24,869,182 (GRCm39) probably benign Het
Nin T C 12: 70,090,838 (GRCm39) D859G Het
Nip7 T G 8: 107,783,916 (GRCm39) L52R possibly damaging Het
Or10d1c A G 9: 38,893,816 (GRCm39) Y175H probably damaging Het
Or5al5 A T 2: 85,961,726 (GRCm39) F94I probably damaging Het
Or6b13 A T 7: 139,782,446 (GRCm39) V79E probably benign Het
Otop1 T A 5: 38,457,547 (GRCm39) Y435* probably null Het
Pak4 A G 7: 28,264,381 (GRCm39) S174P probably benign Het
Pcsk7 G A 9: 45,837,287 (GRCm39) R537Q probably benign Het
Podxl G A 6: 31,505,941 (GRCm39) S34F unknown Het
Prr36 G A 8: 4,266,212 (GRCm39) R113C probably damaging Het
Ptk7 T C 17: 46,890,525 (GRCm39) I436V probably benign Het
Slc13a5 C T 11: 72,157,310 (GRCm39) V28I probably benign Het
Slco6d1 A T 1: 98,349,097 (GRCm39) D56V probably benign Het
Spg11 G A 2: 121,885,858 (GRCm39) R2317W probably damaging Het
Stom T A 2: 35,213,760 (GRCm39) probably null Het
Svs5 T C 2: 164,174,728 (GRCm39) L8P possibly damaging Het
Tmem141 C A 2: 25,511,626 (GRCm39) V39F probably damaging Het
Tmprss6 A G 15: 78,344,019 (GRCm39) L181P probably damaging Het
Tnni3 A G 7: 4,524,379 (GRCm39) S40P probably benign Het
Tubgcp4 A G 2: 121,024,465 (GRCm39) I548V probably benign Het
Wnt5b C A 6: 119,425,092 (GRCm39) probably null Het
Wrap73 A G 4: 154,237,043 (GRCm39) D210G probably benign Het
Yipf4 T G 17: 74,796,771 (GRCm39) S21A probably benign Het
Zscan20 A G 4: 128,481,943 (GRCm39) M573T probably benign Het
Other mutations in Twf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Twf2 APN 9 106,090,027 (GRCm39) missense probably benign 0.01
IGL02616:Twf2 APN 9 106,089,955 (GRCm39) nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TTTGGACACTCTAGGTTCCATC -3'
(R):5'- AGTCTGAATCCTGACCCGTTC -3'

Sequencing Primer
(F):5'- AGGTTCCATCTCAGACATCAGTG -3'
(R):5'- CCCCTGCTTCCAGCTTGAAG -3'
Posted On 2019-11-08