Incidental Mutation 'IGL01701:Twist2'
ID 104485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Twist2
Ensembl Gene ENSMUSG00000007805
Gene Name twist basic helix-loop-helix transcription factor 2
Synonyms Dermo1, bHLHa39
Accession Numbers
Essential gene? Not available question?
Stock # IGL01701
Quality Score
Status
Chromosome 1
Chromosomal Location 91729183-91775750 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91729736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 130 (M130L)
Ref Sequence ENSEMBL: ENSMUSP00000139531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007949] [ENSMUST00000186075]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000007949
AA Change: M130L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000007949
Gene: ENSMUSG00000007805
AA Change: M130L

DomainStartEndE-ValueType
HLH 72 123 4.89e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000186075
AA Change: M130L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139531
Gene: ENSMUSG00000007805
AA Change: M130L

DomainStartEndE-ValueType
HLH 72 123 4.89e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187564
Coding Region Coverage
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 is a basic helix-loop-helix type transcription factor and shares similarity with Twist. This protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype during osteoblast development. This gene may be upregulated in certain cancers. Mutations in this gene cause focal facial dermal dysplasia 3, Setleis type. Two transcript variants encoding the same protein have been found. [provided by RefSeq, Apr 2014]
PHENOTYPE: Deletion of this gene results in high postnatal lethality. Progressive growth retardation is observed with adipose tissue deficiency, skin, hair and muscle abnormalities, as well as hematopoietic and lymphoid organ defects including the spleen, thymus, and liver. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik A G 2: 35,254,776 (GRCm39) Y36H possibly damaging Het
Adgrv1 T C 13: 81,567,750 (GRCm39) D5141G possibly damaging Het
Adk G A 14: 21,153,922 (GRCm39) E42K probably damaging Het
Akap1 C A 11: 88,735,958 (GRCm39) V268L probably benign Het
Arl6ip5 A G 6: 97,187,774 (GRCm39) probably benign Het
Atrx A G X: 104,874,526 (GRCm39) S1945P probably damaging Het
Clec5a G A 6: 40,559,160 (GRCm39) probably benign Het
Cplane1 T C 15: 8,232,741 (GRCm39) probably benign Het
Cul3 G T 1: 80,255,140 (GRCm39) H6Q probably damaging Het
Fn1 T C 1: 71,669,012 (GRCm39) probably benign Het
Furin C A 7: 80,042,240 (GRCm39) V452F probably benign Het
Furin T A 7: 80,040,507 (GRCm39) D777V probably benign Het
Gm57859 T C 11: 113,579,927 (GRCm39) F441L probably benign Het
Hmgb4 G A 4: 128,154,166 (GRCm39) T134I probably benign Het
Ift74 A T 4: 94,550,895 (GRCm39) E349V possibly damaging Het
Igkv6-23 A T 6: 70,237,880 (GRCm39) L13Q probably damaging Het
Lekr1 A T 3: 65,591,425 (GRCm39) Y54F probably damaging Het
Lman1 A T 18: 66,127,921 (GRCm39) V241E possibly damaging Het
Mat1a T A 14: 40,836,772 (GRCm39) D167E probably benign Het
Myl6 G A 10: 128,327,966 (GRCm39) A130V probably damaging Het
Myo9a T C 9: 59,791,877 (GRCm39) probably null Het
Nlrp4f A T 13: 65,347,223 (GRCm39) W12R probably damaging Het
Nr1h4 T C 10: 89,314,669 (GRCm39) R276G probably benign Het
Or4f61 T C 2: 111,922,851 (GRCm39) N65S possibly damaging Het
Or5m13b C A 2: 85,754,421 (GRCm39) Q270K possibly damaging Het
Pag1 C T 3: 9,758,886 (GRCm39) E411K probably damaging Het
Prorp T G 12: 55,355,660 (GRCm39) probably benign Het
Rttn A G 18: 89,082,339 (GRCm39) N1422D probably damaging Het
Ryr1 C T 7: 28,759,235 (GRCm39) R3345Q probably damaging Het
Slc12a8 T C 16: 33,361,280 (GRCm39) L85P probably damaging Het
Slc22a17 T C 14: 55,144,718 (GRCm39) H565R probably damaging Het
Slc46a3 T C 5: 147,823,108 (GRCm39) T245A probably benign Het
Thsd7b A G 1: 129,358,665 (GRCm39) H33R probably benign Het
Tmem131 A G 1: 36,847,318 (GRCm39) V1260A probably benign Het
Tmem30a A T 9: 79,681,461 (GRCm39) F236Y probably damaging Het
Trim30b A C 7: 104,015,258 (GRCm39) Y43* probably null Het
Trpc3 T C 3: 36,725,743 (GRCm39) K78E possibly damaging Het
Ube2q2l T A 6: 136,377,804 (GRCm39) Y342F probably damaging Het
Other mutations in Twist2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01362:Twist2 APN 1 91,729,650 (GRCm39) missense probably damaging 1.00
R9703:Twist2 UTSW 1 91,729,744 (GRCm39) missense probably damaging 0.99
Posted On 2014-01-21