Incidental Mutation 'R5007:Stag2'
ID 390258
Institutional Source Beutler Lab
Gene Symbol Stag2
Ensembl Gene ENSMUSG00000025862
Gene Name STAG2 cohesin complex component
Synonyms B230112I07Rik, SAP2, nuclear protein SA2, 9230105L23Rik, SA-2
MMRRC Submission 042598-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R5007 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 41238194-41366062 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 41355130 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 1149 (H1149Y)
Ref Sequence ENSEMBL: ENSMUSP00000110725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069619] [ENSMUST00000115072] [ENSMUST00000115073]
AlphaFold O35638
Predicted Effect possibly damaging
Transcript: ENSMUST00000069619
AA Change: H1149Y

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063250
Gene: ENSMUSG00000025862
AA Change: H1149Y

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 possibly damaging
Transcript: ENSMUST00000115072
AA Change: H1149Y

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110724
Gene: ENSMUSG00000025862
AA Change: H1149Y

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 possibly damaging
Transcript: ENSMUST00000115073
AA Change: H1149Y

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110725
Gene: ENSMUSG00000025862
AA Change: H1149Y

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
Meta Mutation Damage Score 0.1191 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.6%
Validation Efficiency 99% (89/90)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C G 7: 27,278,192 (GRCm39) T242R probably damaging Het
Abca8b T C 11: 109,827,590 (GRCm39) T1473A probably damaging Het
Adam22 T C 5: 8,217,393 (GRCm39) Y134C probably damaging Het
Alg9 T A 9: 50,699,524 (GRCm39) M183K probably damaging Het
Ambra1 T C 2: 91,602,655 (GRCm39) I213T possibly damaging Het
Ankrd55 T A 13: 112,504,466 (GRCm39) V376D probably benign Het
Ano4 A C 10: 88,948,807 (GRCm39) V166G probably benign Het
Aox3 T A 1: 58,202,583 (GRCm39) C730S probably benign Het
Apc T A 18: 34,446,016 (GRCm39) Y953N probably damaging Het
Ass1 T C 2: 31,391,544 (GRCm39) F273S possibly damaging Het
Atg2b T C 12: 105,610,135 (GRCm39) probably null Het
B3gnt9 A G 8: 105,981,122 (GRCm39) Y89H probably damaging Het
Cd38 T G 5: 44,063,506 (GRCm39) F200V probably damaging Het
Cep170 G T 1: 176,597,380 (GRCm39) R388S probably benign Het
Col22a1 A T 15: 71,816,271 (GRCm39) D614E probably damaging Het
Crybg3 C A 16: 59,378,463 (GRCm39) probably benign Het
Ctdp1 A T 18: 80,463,695 (GRCm39) S114T probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dmtf1 T C 5: 9,172,439 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,362,283 (GRCm39) V3715M probably damaging Het
Dok1 A T 6: 83,009,297 (GRCm39) L185H probably damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Eif2ak1 G T 5: 143,810,698 (GRCm39) R136L probably benign Het
Eml5 A T 12: 98,797,224 (GRCm39) S1063T probably damaging Het
Fam171b T A 2: 83,685,853 (GRCm39) L179* probably null Het
Flot1 G T 17: 36,135,267 (GRCm39) probably benign Het
Fmn2 A T 1: 174,571,866 (GRCm39) H1491L probably damaging Het
Frem1 C T 4: 82,859,049 (GRCm39) probably benign Het
Gdf2 A G 14: 33,666,863 (GRCm39) D195G probably benign Het
Golga4 T G 9: 118,387,368 (GRCm39) C1497G probably benign Het
Gpaa1 T A 15: 76,215,868 (GRCm39) C33* probably null Het
Hectd1 A T 12: 51,849,443 (GRCm39) C254S possibly damaging Het
Hspa1b C T 17: 35,177,086 (GRCm39) A300T probably benign Het
Igf2bp2 A G 16: 21,898,246 (GRCm39) I233T probably damaging Het
Iqce C A 5: 140,661,003 (GRCm39) A491S possibly damaging Het
Irak3 A G 10: 119,982,334 (GRCm39) probably null Het
Kcnip1 T A 11: 33,592,495 (GRCm39) H124L probably benign Het
Klhdc10 G A 6: 30,450,640 (GRCm39) R393Q probably benign Het
Klhl28 C T 12: 65,004,001 (GRCm39) E171K probably damaging Het
Map2 T C 1: 66,452,448 (GRCm39) V288A possibly damaging Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Meltf A G 16: 31,706,380 (GRCm39) D288G possibly damaging Het
Mgat4e T A 1: 134,468,890 (GRCm39) I385F probably benign Het
Mical3 A C 6: 121,015,030 (GRCm39) V211G probably damaging Het
Mlh1 A G 9: 111,100,478 (GRCm39) *39R probably null Het
Mre11a A G 9: 14,721,116 (GRCm39) D345G probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Msh2 C A 17: 88,030,841 (GRCm39) A906E probably benign Het
Nat1 T G 8: 67,944,077 (GRCm39) L154R probably benign Het
Nlrp4a A G 7: 26,161,905 (GRCm39) D851G probably damaging Het
Npas4 A C 19: 5,039,684 (GRCm39) V54G possibly damaging Het
Or13n4 T C 7: 106,423,364 (GRCm39) Y123C probably damaging Het
Pcbp4 G A 9: 106,339,292 (GRCm39) G100R probably damaging Het
Pcdh17 A G 14: 84,770,737 (GRCm39) T1072A probably benign Het
Pcdh18 T C 3: 49,708,906 (GRCm39) N803S probably benign Het
Ppat C T 5: 77,076,525 (GRCm39) probably benign Het
Ppm1l T A 3: 69,224,931 (GRCm39) L11Q probably damaging Het
Pram1 T A 17: 33,864,411 (GRCm39) V658E probably damaging Het
Prr12 C T 7: 44,699,225 (GRCm39) probably benign Het
Prxl2b A G 4: 154,981,531 (GRCm39) probably null Het
Ptprq A G 10: 107,444,137 (GRCm39) V1489A probably benign Het
Ryr1 T A 7: 28,768,540 (GRCm39) I2817F probably damaging Het
Sall2 A G 14: 52,551,950 (GRCm39) L413P probably damaging Het
Slc7a9 T A 7: 35,153,554 (GRCm39) M185K probably benign Het
Timm10b T A 7: 105,290,298 (GRCm39) Y64N probably damaging Het
Tmem30c T C 16: 57,086,868 (GRCm39) T312A probably benign Het
Tmem9b G T 7: 109,344,550 (GRCm39) C17* probably null Het
Vmn2r68 C A 7: 84,881,622 (GRCm39) R486L probably benign Het
Xkr9 T A 1: 13,771,387 (GRCm39) I301N probably damaging Het
Xpo7 T C 14: 70,925,704 (GRCm39) Q446R probably damaging Het
Ythdf3 T C 3: 16,259,362 (GRCm39) V503A possibly damaging Het
Zfp280b T A 10: 75,875,048 (GRCm39) V309D probably damaging Het
Zfp53 T A 17: 21,729,772 (GRCm39) C602S probably benign Het
Zfp616 A T 11: 73,974,643 (GRCm39) N395I possibly damaging Het
Zfp644 T C 5: 106,783,867 (GRCm39) I862M probably benign Het
Zfp715 T C 7: 42,949,019 (GRCm39) T314A possibly damaging Het
Other mutations in Stag2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00547:Stag2 APN X 41,335,892 (GRCm39) missense probably benign 0.17
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
Z1177:Stag2 UTSW X 41,318,275 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTTCAGCTGAAGAAAGCAGTAGC -3'
(R):5'- ACTCTCACTTACATGGCATGC -3'

Sequencing Primer
(F):5'- CAGTGACAGTATGTGGTTGAGCAG -3'
(R):5'- CTCACTTACATGGCATGCTGAAG -3'
Posted On 2016-06-06