Incidental Mutation 'R6368:Twf2'
ID512799
Institutional Source Beutler Lab
Gene Symbol Twf2
Ensembl Gene ENSMUSG00000023277
Gene Nametwinfilin actin binding protein 2
SynonymsPtk9l, Twinfilin-2, Twf2, A6-related
MMRRC Submission
Accession Numbers

Genbank: NM_011876

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6368 (G1)
Quality Score225.009
Status Not validated
Chromosome9
Chromosomal Location106203108-106215389 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 106212833 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 128 (N128K)
Ref Sequence ENSEMBL: ENSMUSP00000150626 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024047] [ENSMUST00000187647] [ENSMUST00000187944] [ENSMUST00000188650] [ENSMUST00000216348]
Predicted Effect probably benign
Transcript: ENSMUST00000024047
AA Change: N160K

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000024047
Gene: ENSMUSG00000023277
AA Change: N160K

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: 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 probably benign
Transcript: ENSMUST00000187944
Predicted Effect probably benign
Transcript: ENSMUST00000188650
AA Change: N158K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000140339
Gene: ENSMUSG00000023277
AA Change: N158K

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 noncoding transcript
Transcript: ENSMUST00000189708
Predicted Effect probably benign
Transcript: ENSMUST00000216348
AA Change: N128K

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216541
Predicted Effect probably benign
Transcript: ENSMUST00000216850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217523
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930563M21Rik C A 9: 55,990,132 E272D possibly damaging Het
Abi2 A G 1: 60,453,651 T158A possibly damaging Het
Acacb T C 5: 114,216,823 S1221P probably damaging Het
Agbl1 A G 7: 76,419,830 D370G probably benign Het
Apeh A G 9: 108,087,243 I487T probably damaging Het
Arid1b C A 17: 5,332,533 N1297K possibly damaging Het
Ascc3 G A 10: 50,699,985 G779S probably damaging Het
Atp7b A C 8: 22,020,755 probably null Het
Bsn C T 9: 108,111,314 probably benign Het
Caps2 C T 10: 112,194,968 Q268* probably null Het
Cnfn C T 7: 25,367,961 probably null Het
Cr2 A G 1: 195,168,472 S229P probably damaging Het
Cubn T C 2: 13,430,995 Y1050C probably damaging Het
Cubn T C 2: 13,476,123 E307G probably damaging Het
Cyb5r3 A C 15: 83,160,124 Y182D possibly damaging Het
Dclre1a A T 19: 56,546,791 H120Q probably benign Het
Ddx6 T C 9: 44,635,776 I457T probably damaging Het
E2f1 A T 2: 154,564,476 H93Q possibly damaging Het
Fam186a T C 15: 99,943,317 K1682R possibly damaging Het
Farsb A G 1: 78,466,965 probably null Het
Flii A T 11: 60,721,136 L347Q probably damaging Het
Galntl6 T G 8: 58,911,441 T12P probably damaging Het
Gm11595 G A 11: 99,772,555 R100C unknown Het
Gm21680 T C 5: 25,969,036 N190S probably damaging Het
Ifit1bl2 T C 19: 34,619,125 S364G probably benign Het
Kdm2a A G 19: 4,350,317 I234T probably damaging Het
Kdm5b T C 1: 134,599,207 C356R probably damaging Het
Kel A T 6: 41,688,851 C174* probably null Het
Krt16 T A 11: 100,246,676 D401V probably damaging Het
Ltb4r1 A C 14: 55,767,743 I168L probably benign Het
Luzp1 T A 4: 136,541,780 M438K probably benign Het
Mtf1 C T 4: 124,824,352 T281M probably damaging Het
Myo9a T A 9: 59,924,948 S2587T probably benign Het
Olfr1311 A T 2: 112,021,551 I101N probably damaging Het
Olfr1377 T A 11: 50,984,786 F28L probably benign Het
Olfr532 G T 7: 140,419,667 Y35* probably null Het
Olfr860 T C 9: 19,846,409 D70G probably damaging Het
Pcm1 T A 8: 41,293,544 F1221Y probably benign Het
Pnldc1 A T 17: 12,905,864 N90K probably damaging Het
Prickle2 A T 6: 92,420,237 L169Q probably damaging Het
Ralgps2 A T 1: 156,884,574 L147I probably damaging Het
Rfx3 A T 19: 27,768,609 L674Q possibly damaging Het
Rpl3 C A 15: 80,082,544 L14F probably damaging Het
Rrbp1 C T 2: 143,989,555 G231R probably damaging Het
Sema3d C T 5: 12,571,013 L529F probably damaging Het
Slain1 A T 14: 103,656,955 T193S probably benign Het
Slc2a6 G T 2: 27,024,587 Q256K possibly damaging Het
Slk A G 19: 47,620,183 E525G possibly damaging Het
Spsb4 G T 9: 96,944,645 Q252K probably benign Het
Taf1b A G 12: 24,558,257 T552A possibly damaging Het
Tmprss15 T C 16: 79,006,057 probably null Het
Tph2 T C 10: 115,179,326 H177R probably damaging Het
Ttll1 A G 15: 83,489,617 S332P probably damaging Het
Vegfc T A 8: 54,181,230 C315S probably damaging Het
Vmn2r111 T A 17: 22,571,908 K136N probably benign Het
Wnk2 T C 13: 49,061,338 E496G probably damaging Het
Zfp148 C A 16: 33,497,198 Q705K probably damaging Het
Zw10 C T 9: 49,073,235 A539V probably damaging Het
Other mutations in Twf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01135:Twf2 APN 9 106212828 missense probably benign 0.01
IGL02616:Twf2 APN 9 106212756 nonsense probably null
G5030:Twf2 UTSW 9 106206942 missense possibly damaging 0.66
R0139:Twf2 UTSW 9 106212956 missense possibly damaging 0.69
R1432:Twf2 UTSW 9 106214813 unclassified probably benign
R4579:Twf2 UTSW 9 106212826 missense probably benign 0.20
R4969:Twf2 UTSW 9 106211899 critical splice donor site probably null
R4975:Twf2 UTSW 9 106212340 missense probably damaging 1.00
R5831:Twf2 UTSW 9 106214187 missense probably benign 0.00
R7026:Twf2 UTSW 9 106214880 missense probably damaging 1.00
R7338:Twf2 UTSW 9 106203939 intron probably benign
R7439:Twf2 UTSW 9 106214398 missense probably damaging 1.00
R7793:Twf2 UTSW 9 106211880 missense probably damaging 1.00
X0024:Twf2 UTSW 9 106212969 missense probably benign
Z1177:Twf2 UTSW 9 106213004 missense probably benign 0.09
Predicted Primers PCR Primer
(F):5'- ATGCACAGCAGGCTTCTGTC -3'
(R):5'- CCACCAGCTGGATATAGTTGAC -3'

Sequencing Primer
(F):5'- GGCTTCTGTCTGCCCGC -3'
(R):5'- AGTTGCTGAAGTGCCCTC -3'
Posted On2018-04-27