Incidental Mutation 'IGL00547:Stag2'
ID 3132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stag2
Ensembl Gene ENSMUSG00000025862
Gene Name STAG2 cohesin complex component
Synonyms B230112I07Rik, SAP2, nuclear protein SA2, 9230105L23Rik, SA-2
Accession Numbers
Essential gene? Probably essential (E-score: 0.961) question?
Stock # IGL00547
Quality Score
Status
Chromosome X
Chromosomal Location 41238194-41366062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 41335892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 563 (I563T)
Ref Sequence ENSEMBL: ENSMUSP00000110725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069619] [ENSMUST00000115072] [ENSMUST00000115073]
AlphaFold O35638
Predicted Effect probably benign
Transcript: ENSMUST00000069619
AA Change: I563T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063250
Gene: ENSMUSG00000025862
AA Change: I563T

DomainStartEndE-ValueType
low complexity region 32 68 N/A INTRINSIC
Pfam:STAG 154 273 3e-50 PFAM
SCOP:d1b3ua_ 275 439 2e-3 SMART
low complexity region 501 513 N/A INTRINSIC
low complexity region 1096 1101 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115072
AA Change: I563T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110724
Gene: ENSMUSG00000025862
AA Change: I563T

DomainStartEndE-ValueType
low complexity region 32 68 N/A INTRINSIC
Pfam:STAG 154 273 3e-50 PFAM
SCOP:d1b3ua_ 275 439 2e-3 SMART
low complexity region 501 513 N/A INTRINSIC
low complexity region 1096 1101 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115073
AA Change: I563T

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110725
Gene: ENSMUSG00000025862
AA Change: I563T

DomainStartEndE-ValueType
low complexity region 32 68 N/A INTRINSIC
Pfam:STAG 157 271 6.3e-41 PFAM
SCOP:d1b3ua_ 275 439 2e-3 SMART
low complexity region 501 513 N/A INTRINSIC
low complexity region 1096 1101 N/A INTRINSIC
coiled coil region 1169 1189 N/A INTRINSIC
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 subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Knockdown of expression of this gene results in lineage skewing of hematopoietic stem cells and myeloproliferative disorders in aged mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts7 C A 9: 90,076,302 (GRCm39) Q1345K possibly damaging Het
Arhgap40 T C 2: 158,380,546 (GRCm39) probably benign Het
Atp8b4 A G 2: 126,200,817 (GRCm39) C784R probably damaging Het
Bicral T C 17: 47,136,278 (GRCm39) I311V probably benign Het
Cep290 G A 10: 100,346,570 (GRCm39) R551H probably damaging Het
Chd9 A T 8: 91,732,426 (GRCm39) M842L probably damaging Het
Cntn6 A G 6: 104,627,361 (GRCm39) N65D probably damaging Het
Dnah8 C T 17: 31,034,677 (GRCm39) Q4199* probably null Het
Ercc3 T C 18: 32,397,598 (GRCm39) probably benign Het
Gm454 T C 5: 138,205,389 (GRCm39) noncoding transcript Het
Gm7073 A T X: 59,481,748 (GRCm39) D204E probably benign Het
Myo5a A G 9: 75,048,735 (GRCm39) H286R probably benign Het
Nelfb C A 2: 25,094,300 (GRCm39) M354I possibly damaging Het
Oas3 C T 5: 120,915,507 (GRCm39) probably benign Het
Phldb2 A G 16: 45,645,898 (GRCm39) S228P probably benign Het
Pls3 A T X: 74,837,874 (GRCm39) I429N probably damaging Het
Ptprq C T 10: 107,554,402 (GRCm39) V108M probably damaging Het
Rlf A G 4: 121,027,883 (GRCm39) S138P possibly damaging Het
Rpn2 T C 2: 157,156,833 (GRCm39) Y479H probably damaging Het
Sdr16c5 A T 4: 4,012,320 (GRCm39) probably benign Het
Slco6c1 A T 1: 97,015,674 (GRCm39) N372K probably benign Het
Vrk1 T C 12: 106,024,840 (GRCm39) S239P probably damaging Het
Other mutations in Stag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02379:Stag2 APN X 41,339,474 (GRCm39) missense probably benign 0.00
IGL02501:Stag2 APN X 41,360,202 (GRCm39) splice site probably benign
R0194:Stag2 UTSW X 41,295,014 (GRCm39) splice site probably benign
R4057:Stag2 UTSW X 41,313,819 (GRCm39) missense probably damaging 1.00
R4465:Stag2 UTSW X 41,322,749 (GRCm39) missense probably benign 0.00
R4466:Stag2 UTSW X 41,322,749 (GRCm39) missense probably benign 0.00
R4467:Stag2 UTSW X 41,322,749 (GRCm39) missense probably benign 0.00
R5007:Stag2 UTSW X 41,355,130 (GRCm39) missense possibly damaging 0.92
Z1177:Stag2 UTSW X 41,318,275 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20