Incidental Mutation 'R6545:Stag3'
ID 521094
Institutional Source Beutler Lab
Gene Symbol Stag3
Ensembl Gene ENSMUSG00000036928
Gene Name STAG3 cohesin complex component
Synonyms SA-2, stromalin 3
MMRRC Submission 044671-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6545 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 138278502-138310655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138296614 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 491 (T491A)
Ref Sequence ENSEMBL: ENSMUSP00000125523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048028] [ENSMUST00000162245]
AlphaFold O70576
Predicted Effect possibly damaging
Transcript: ENSMUST00000048028
AA Change: T491A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: T491A

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Pfam:STAG 188 301 3.1e-38 PFAM
low complexity region 633 653 N/A INTRINSIC
low complexity region 1099 1114 N/A INTRINSIC
low complexity region 1141 1151 N/A INTRINSIC
low complexity region 1190 1208 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161615
Predicted Effect possibly damaging
Transcript: ENSMUST00000162245
AA Change: T491A

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: T491A

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Pfam:STAG 185 304 4e-50 PFAM
low complexity region 633 653 N/A INTRINSIC
low complexity region 1099 1114 N/A INTRINSIC
low complexity region 1141 1151 N/A INTRINSIC
low complexity region 1190 1208 N/A INTRINSIC
Meta Mutation Damage Score 0.0708 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 95% (42/44)
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 expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit azoospermia and lack oocytes. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(2) Gene trapped(1) Transgenic(1)

Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago1 C T 4: 126,348,145 (GRCm39) A58T possibly damaging Het
Ago4 T A 4: 126,405,811 (GRCm39) Q366L probably benign Het
Card10 C A 15: 78,661,010 (GRCm39) G950V probably damaging Het
Ceacam1 A T 7: 25,173,279 (GRCm39) V303D probably damaging Het
Cfap54 C T 10: 92,672,319 (GRCm39) R2917H probably benign Het
Cit A G 5: 115,984,493 (GRCm39) S22G probably null Het
Cog4 A G 8: 111,607,577 (GRCm39) E666G probably damaging Het
Crocc2 A G 1: 93,140,659 (GRCm39) D1103G probably benign Het
Cttnbp2 A T 6: 18,405,278 (GRCm39) probably null Het
Dctn3 T C 4: 41,723,084 (GRCm39) E16G probably damaging Het
Dnah6 A G 6: 73,021,715 (GRCm39) S3536P probably damaging Het
Eef2 T A 10: 81,016,948 (GRCm39) I675N probably damaging Het
Gga3 A G 11: 115,477,995 (GRCm39) F531S possibly damaging Het
Gm19410 A G 8: 36,257,652 (GRCm39) R697G possibly damaging Het
Gm3173 T A 14: 15,728,395 (GRCm39) M18K possibly damaging Het
Gm5800 A T 14: 51,949,419 (GRCm39) S175R possibly damaging Het
Gria2 T C 3: 80,648,451 (GRCm39) K95R probably damaging Het
Gstm6 A G 3: 107,849,681 (GRCm39) I76T probably damaging Het
Harbi1 T G 2: 91,542,640 (GRCm39) Y34D probably damaging Het
Hectd2 C A 19: 36,564,778 (GRCm39) Q20K probably benign Het
Inpp5f C A 7: 128,296,280 (GRCm39) A250D possibly damaging Het
Irf9 T C 14: 55,842,684 (GRCm39) F59L probably damaging Het
Itgam T A 7: 127,707,044 (GRCm39) M625K probably damaging Het
Kcnh5 C T 12: 75,054,432 (GRCm39) R504Q probably damaging Het
Lama2 T C 10: 27,052,793 (GRCm39) T1389A probably benign Het
Lin54 T A 5: 100,632,996 (GRCm39) probably null Het
Mettl23 A G 11: 116,740,042 (GRCm39) D171G possibly damaging Het
Mgll A G 6: 88,802,685 (GRCm39) N296S probably benign Het
Mpv17 T A 5: 31,302,041 (GRCm39) probably benign Het
Myof A T 19: 37,930,745 (GRCm39) M1001K possibly damaging Het
Myom1 A T 17: 71,389,300 (GRCm39) Q850L probably benign Het
Or10ab5 A T 7: 108,245,662 (GRCm39) N40K probably damaging Het
Pias2 A G 18: 77,217,781 (GRCm39) I328V possibly damaging Het
Polh G A 17: 46,493,685 (GRCm39) P311S possibly damaging Het
Prss34 A T 17: 25,517,809 (GRCm39) R61S probably benign Het
Rassf2 A T 2: 131,840,237 (GRCm39) M280K probably damaging Het
Rpsa A G 9: 119,959,323 (GRCm39) H47R probably benign Het
Rtp3 A G 9: 110,815,894 (GRCm39) V219A possibly damaging Het
Smarcc2 T C 10: 128,319,997 (GRCm39) I790T probably benign Het
Svil C T 18: 5,108,621 (GRCm39) H2007Y probably benign Het
Togaram1 T G 12: 65,024,981 (GRCm39) C750G possibly damaging Het
Vmn2r13 A T 5: 109,304,806 (GRCm39) probably null Het
Vmn2r4 A T 3: 64,313,777 (GRCm39) D401E possibly damaging Het
Wdr97 C T 15: 76,247,578 (GRCm39) R1585C probably damaging Het
Wsb1 A T 11: 79,141,881 (GRCm39) D45E probably damaging Het
Zfp808 T A 13: 62,319,709 (GRCm39) Y313N probably benign Het
Other mutations in Stag3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Stag3 APN 5 138,297,400 (GRCm39) missense probably damaging 1.00
IGL00336:Stag3 APN 5 138,295,921 (GRCm39) missense probably benign 0.42
IGL00514:Stag3 APN 5 138,298,397 (GRCm39) missense probably damaging 1.00
IGL00961:Stag3 APN 5 138,296,611 (GRCm39) missense probably benign 0.01
IGL01923:Stag3 APN 5 138,287,492 (GRCm39) missense probably damaging 1.00
IGL02252:Stag3 APN 5 138,300,810 (GRCm39) missense probably damaging 1.00
IGL02424:Stag3 APN 5 138,289,628 (GRCm39) missense probably damaging 1.00
IGL02424:Stag3 APN 5 138,280,247 (GRCm39) nonsense probably null
IGL02869:Stag3 APN 5 138,280,955 (GRCm39) missense probably damaging 0.96
thor UTSW 5 138,299,298 (GRCm39) critical splice donor site probably null
R0016:Stag3 UTSW 5 138,289,643 (GRCm39) missense possibly damaging 0.50
R0038:Stag3 UTSW 5 138,299,298 (GRCm39) critical splice donor site probably null
R0038:Stag3 UTSW 5 138,299,298 (GRCm39) critical splice donor site probably null
R0046:Stag3 UTSW 5 138,281,285 (GRCm39) splice site probably benign
R0046:Stag3 UTSW 5 138,281,285 (GRCm39) splice site probably benign
R1455:Stag3 UTSW 5 138,309,997 (GRCm39) missense probably benign 0.00
R1512:Stag3 UTSW 5 138,296,247 (GRCm39) missense probably benign 0.32
R1530:Stag3 UTSW 5 138,295,674 (GRCm39) missense probably damaging 0.99
R1608:Stag3 UTSW 5 138,296,901 (GRCm39) splice site probably null
R1736:Stag3 UTSW 5 138,302,771 (GRCm39) splice site probably benign
R1969:Stag3 UTSW 5 138,298,400 (GRCm39) missense probably damaging 0.99
R2034:Stag3 UTSW 5 138,296,263 (GRCm39) missense possibly damaging 0.82
R2214:Stag3 UTSW 5 138,299,528 (GRCm39) missense possibly damaging 0.92
R2281:Stag3 UTSW 5 138,296,546 (GRCm39) missense probably damaging 1.00
R2411:Stag3 UTSW 5 138,281,290 (GRCm39) splice site probably benign
R3792:Stag3 UTSW 5 138,296,611 (GRCm39) missense probably benign 0.01
R3887:Stag3 UTSW 5 138,297,101 (GRCm39) missense probably damaging 0.99
R4255:Stag3 UTSW 5 138,289,143 (GRCm39) missense probably damaging 0.98
R4777:Stag3 UTSW 5 138,307,461 (GRCm39) unclassified probably benign
R4842:Stag3 UTSW 5 138,307,627 (GRCm39) splice site probably null
R4854:Stag3 UTSW 5 138,294,956 (GRCm39) splice site probably null
R5045:Stag3 UTSW 5 138,302,740 (GRCm39) missense probably damaging 1.00
R5631:Stag3 UTSW 5 138,294,139 (GRCm39) missense probably damaging 0.96
R5729:Stag3 UTSW 5 138,288,485 (GRCm39) missense possibly damaging 0.76
R5894:Stag3 UTSW 5 138,297,100 (GRCm39) missense probably damaging 0.99
R6004:Stag3 UTSW 5 138,287,468 (GRCm39) missense probably damaging 1.00
R6172:Stag3 UTSW 5 138,298,105 (GRCm39) missense probably benign 0.41
R6503:Stag3 UTSW 5 138,302,682 (GRCm39) missense probably damaging 0.96
R6736:Stag3 UTSW 5 138,299,761 (GRCm39) missense probably damaging 0.98
R6861:Stag3 UTSW 5 138,302,969 (GRCm39) missense possibly damaging 0.55
R7012:Stag3 UTSW 5 138,295,871 (GRCm39) splice site probably null
R7358:Stag3 UTSW 5 138,299,770 (GRCm39) missense probably damaging 1.00
R7378:Stag3 UTSW 5 138,280,222 (GRCm39) missense probably benign 0.00
R7392:Stag3 UTSW 5 138,289,628 (GRCm39) missense probably damaging 1.00
R7395:Stag3 UTSW 5 138,280,207 (GRCm39) missense probably benign 0.33
R7818:Stag3 UTSW 5 138,299,705 (GRCm39) missense probably benign 0.00
R8017:Stag3 UTSW 5 138,299,465 (GRCm39) missense possibly damaging 0.80
R8019:Stag3 UTSW 5 138,299,465 (GRCm39) missense possibly damaging 0.80
R8076:Stag3 UTSW 5 138,281,404 (GRCm39) missense probably damaging 0.96
R8393:Stag3 UTSW 5 138,295,017 (GRCm39) missense probably damaging 0.98
R8405:Stag3 UTSW 5 138,302,914 (GRCm39) missense probably damaging 0.99
R8417:Stag3 UTSW 5 138,306,850 (GRCm39) missense probably benign
R8734:Stag3 UTSW 5 138,310,050 (GRCm39) missense probably benign 0.36
R8848:Stag3 UTSW 5 138,288,528 (GRCm39) missense probably null 0.97
R8966:Stag3 UTSW 5 138,289,666 (GRCm39) missense probably damaging 0.99
R9029:Stag3 UTSW 5 138,296,296 (GRCm39) missense probably damaging 1.00
R9292:Stag3 UTSW 5 138,299,712 (GRCm39) missense probably benign 0.01
R9410:Stag3 UTSW 5 138,297,601 (GRCm39) missense possibly damaging 0.95
R9645:Stag3 UTSW 5 138,299,701 (GRCm39) missense possibly damaging 0.78
R9723:Stag3 UTSW 5 138,298,103 (GRCm39) missense probably benign
Z1177:Stag3 UTSW 5 138,299,554 (GRCm39) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- TGCTATGGCCTCTTCTGCAG -3'
(R):5'- GCTGTGAAAGAAGGTTCGC -3'

Sequencing Primer
(F):5'- GTGTATGTATTTGTCACACTGTCC -3'
(R):5'- GAAGGTTCGCAGTAAGTTATCCACC -3'
Posted On 2018-06-06