Incidental Mutation 'IGL01752:Twsg1'
ID153409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Twsg1
Ensembl Gene ENSMUSG00000024098
Gene Nametwisted gastrulation BMP signaling modulator 1
Synonyms1810013J15Rik, D17Ertd403e, 9030422N06Rik, Tsg
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.449) question?
Stock #IGL01752
Quality Score
Status
Chromosome17
Chromosomal Location65923066-65951187 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 65929784 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 84 (T84A)
Ref Sequence ENSEMBL: ENSMUSP00000024906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024906]
Predicted Effect probably benign
Transcript: ENSMUST00000024906
AA Change: T84A

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000024906
Gene: ENSMUSG00000024098
AA Change: T84A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tsg 85 221 3.6e-49 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice appear healthy at birth, but more than half of the progeny fail to thrive and exhibit dwarfism with delayed ossification and immune system. These defects result in premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A T 14: 78,509,878 probably null Het
Btbd11 C A 10: 85,654,502 Q1011K probably damaging Het
Cdh4 A T 2: 179,890,884 N713I probably damaging Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Ddx21 A G 10: 62,587,507 S639P probably damaging Het
Dock3 T C 9: 107,025,313 probably benign Het
Fan1 G A 7: 64,372,794 T237M probably benign Het
Fbn2 T A 18: 58,075,977 probably null Het
Fhad1 T C 4: 141,972,899 K347E possibly damaging Het
Gucy2c C A 6: 136,770,108 A118S probably benign Het
Itgb4 G A 11: 115,988,926 V635I probably damaging Het
Lox A G 18: 52,520,854 V390A possibly damaging Het
Lyn A T 4: 3,743,286 M69L probably benign Het
Mrgprb5 A G 7: 48,168,667 F107L probably benign Het
Neurod2 T C 11: 98,327,375 E321G possibly damaging Het
Olfr912 C T 9: 38,581,513 P79S probably damaging Het
Pcnx3 T A 19: 5,665,337 K1962* probably null Het
Pde3a T C 6: 141,487,613 probably benign Het
Phf10 A G 17: 14,954,950 probably benign Het
Prune2 A G 19: 17,123,903 E2257G possibly damaging Het
Rock1 A G 18: 10,079,113 probably null Het
Slc4a11 T G 2: 130,688,145 T238P probably damaging Het
Ssu2 T A 6: 112,375,592 K279N probably damaging Het
Tead3 A T 17: 28,333,594 I275N probably damaging Het
Ttn T C 2: 76,744,793 E25252G probably damaging Het
Ugt3a1 A T 15: 9,306,146 K127M probably damaging Het
Unc13c A T 9: 73,931,811 M586K probably benign Het
Vmn1r195 G T 13: 22,279,251 C297F probably benign Het
Vps13c T A 9: 67,948,228 I2525N probably damaging Het
Zdhhc2 G A 8: 40,473,001 A346T probably benign Het
Zfp52 T G 17: 21,560,150 C87G probably benign Het
Other mutations in Twsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01307:Twsg1 APN 17 65948651 splice site probably benign
IGL01313:Twsg1 APN 17 65948704 missense probably damaging 1.00
IGL02326:Twsg1 APN 17 65926436 missense possibly damaging 0.75
PIT4791001:Twsg1 UTSW 17 65929711 missense probably benign 0.03
R3983:Twsg1 UTSW 17 65929763 missense probably benign 0.20
R4328:Twsg1 UTSW 17 65948738 missense probably benign
R4447:Twsg1 UTSW 17 65929787 missense possibly damaging 0.58
R4449:Twsg1 UTSW 17 65926310 missense possibly damaging 0.88
R4625:Twsg1 UTSW 17 65929551 missense probably benign 0.00
R6597:Twsg1 UTSW 17 65937804 missense probably damaging 0.99
R7265:Twsg1 UTSW 17 65929787 missense possibly damaging 0.58
Posted On2014-02-04