Incidental Mutation 'R8551:Twist1'
ID 668213
Institutional Source Beutler Lab
Gene Symbol Twist1
Ensembl Gene ENSMUSG00000035799
Gene Name twist basic helix-loop-helix transcription factor 1
Synonyms Ska, bHLHa38, pdt, Pluridigite, charlie chaplin, M-Twist, Ska10
MMRRC Submission 068516-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8551 (G1)
Quality Score 42.0073
Status Validated
Chromosome 12
Chromosomal Location 34007670-34009828 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34008103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 43 (R43W)
Ref Sequence ENSEMBL: ENSMUSP00000040089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049089]
AlphaFold P26687
Predicted Effect unknown
Transcript: ENSMUST00000049089
AA Change: R43W
SMART Domains Protein: ENSMUSP00000040089
Gene: ENSMUSG00000035799
AA Change: R43W

DomainStartEndE-ValueType
low complexity region 4 18 N/A INTRINSIC
low complexity region 29 70 N/A INTRINSIC
low complexity region 75 103 N/A INTRINSIC
HLH 118 169 4.89e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (39/40)
MGI Phenotype FUNCTION: Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. This gene encodes a bHLH transcription factor that is evolutionarily conserved from invertebrates to humans, and was originally identified in Drosophila as an essential gene involved in early mesoderm development and dorsal-ventral patterning in the embryo. This protein plays a role in cancer by regulating the epithelial-mesenchymal transition (EMT), a process that is critical for metastasis initiation, and promoting tumor progression. Mutations in the human gene are associated with Saethre-Chotzen syndrome (SCS). Mice with heterozygous mutations in this gene exhibit cranofacial and structural defects similar to those seen in human SCS patients. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous embyros have neural tube defects and die around E11. Heterozygous mutants are viable and exhibit features of human Saethre-Chotzen syndrome, including hindlimb polydactyly, craniofacial defects, long bone abnormalities, an abnormal gait and a small size. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 G A 7: 82,189,678 (GRCm39) R634H probably benign Het
Birc6 T G 17: 74,864,949 (GRCm39) S236R probably benign Het
Dnah12 T A 14: 26,496,227 (GRCm39) I1493K probably damaging Het
Dnah7b T C 1: 46,155,360 (GRCm39) S303P possibly damaging Het
Eri2 A T 7: 119,387,062 (GRCm39) probably null Het
Erlec1 C A 11: 30,881,829 (GRCm39) C467F probably damaging Het
Exph5 A G 9: 53,285,351 (GRCm39) T811A possibly damaging Het
Galr1 T A 18: 82,424,191 (GRCm39) I29F probably benign Het
Gata3 C A 2: 9,867,994 (GRCm39) C320F probably damaging Het
Ggnbp2 A T 11: 84,732,351 (GRCm39) Y247* probably null Het
Gnao1 A G 8: 94,682,735 (GRCm39) Q307R probably damaging Het
Hbp1 T C 12: 31,980,709 (GRCm39) T465A probably damaging Het
Liph C G 16: 21,800,158 (GRCm39) G152R probably damaging Het
Lrguk T C 6: 34,093,446 (GRCm39) S656P probably damaging Het
Lyrm4 T A 13: 36,163,844 (GRCm39) N85I probably benign Het
Lyst T A 13: 13,808,645 (GRCm39) I105N possibly damaging Het
Maml3 T C 3: 51,764,488 (GRCm39) T159A probably benign Het
Man1c1 A T 4: 134,430,326 (GRCm39) L152* probably null Het
Map3k20 T G 2: 72,232,704 (GRCm39) probably benign Het
Mthfsl G T 9: 88,570,943 (GRCm39) R102S possibly damaging Het
Myo3a T A 2: 22,337,277 (GRCm39) S391R probably benign Het
Naa50 A G 16: 43,979,996 (GRCm39) D128G probably benign Het
Nlrp14 C T 7: 106,782,359 (GRCm39) R519C possibly damaging Het
Or5b119 A G 19: 13,457,109 (GRCm39) I151T possibly damaging Het
Or6d14 G T 6: 116,534,289 (GRCm39) R301L probably damaging Het
Oxtr T C 6: 112,465,939 (GRCm39) K274E probably damaging Het
Prkn A G 17: 11,286,103 (GRCm39) K32R probably damaging Het
Relt T C 7: 100,512,409 (GRCm39) probably benign Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Ryr2 T A 13: 11,575,479 (GRCm39) I4840F possibly damaging Het
Sccpdh T A 1: 179,509,013 (GRCm39) Y27N probably damaging Het
Slc7a5 A G 8: 122,613,050 (GRCm39) S343P probably damaging Het
Snrnp200 A G 2: 127,068,971 (GRCm39) D950G probably benign Het
Stk38 A G 17: 29,207,199 (GRCm39) Y115H probably damaging Het
Tas2r116 T C 6: 132,832,993 (GRCm39) V198A probably benign Het
Tfap2d A G 1: 19,175,024 (GRCm39) D159G probably benign Het
Trim69 A G 2: 122,003,810 (GRCm39) D253G probably benign Het
Trpv4 A T 5: 114,768,900 (GRCm39) F359I possibly damaging Het
Usp19 A T 9: 108,376,496 (GRCm39) E1026V possibly damaging Het
Virma A G 4: 11,513,397 (GRCm39) Y417C probably damaging Het
Zfp735 A G 11: 73,603,122 (GRCm39) I689V probably benign Het
Other mutations in Twist1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4877:Twist1 UTSW 12 34,008,350 (GRCm39) missense probably damaging 1.00
R5030:Twist1 UTSW 12 34,008,440 (GRCm39) missense probably damaging 1.00
R7514:Twist1 UTSW 12 34,008,355 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGTATAAGAGCCGCCAAGTCC -3'
(R):5'- TGCAGCTCCTCGTACGACTG -3'

Sequencing Primer
(F):5'- CTTTTTGGACCTCGGGGCC -3'
(R):5'- TCGTACGACTGCGGGCTC -3'
Posted On 2021-04-28