Incidental Mutation 'IGL01923:Stag3'
ID 180174
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stag3
Ensembl Gene ENSMUSG00000036928
Gene Name STAG3 cohesin complex component
Synonyms SA-2, stromalin 3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01923
Quality Score
Status
Chromosome 5
Chromosomal Location 138278502-138310655 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138287492 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 139 (Q139R)
Ref Sequence ENSEMBL: ENSMUSP00000125523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048028] [ENSMUST00000160729] [ENSMUST00000161691] [ENSMUST00000162245]
AlphaFold O70576
Predicted Effect probably damaging
Transcript: ENSMUST00000048028
AA Change: Q139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: Q139R

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 probably damaging
Transcript: ENSMUST00000160729
AA Change: Q139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928
AA Change: Q139R

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161113
Predicted Effect possibly damaging
Transcript: ENSMUST00000161691
AA Change: Q108R

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928
AA Change: Q108R

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162245
AA Change: Q139R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: Q139R

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
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 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T A 5: 129,255,143 (GRCm39) S597T possibly damaging Het
Btnl9 T C 11: 49,071,409 (GRCm39) D138G probably benign Het
Cep135 T A 5: 76,788,829 (GRCm39) *1141K probably null Het
Ctnnd2 A T 15: 30,480,974 (GRCm39) Q74L probably damaging Het
Cyp2j13 A T 4: 95,950,294 (GRCm39) W236R probably benign Het
Dixdc1 A T 9: 50,606,803 (GRCm39) I271N possibly damaging Het
Dlec1 A G 9: 118,957,182 (GRCm39) probably null Het
Dnah9 C A 11: 66,016,061 (GRCm39) probably benign Het
Dop1a A T 9: 86,404,920 (GRCm39) Y275F probably damaging Het
Dysf T A 6: 84,187,811 (GRCm39) *2105R probably null Het
Eif4a1 A T 11: 69,563,129 (GRCm39) D25E possibly damaging Het
Fras1 T A 5: 96,883,139 (GRCm39) I2557N probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm12253 G T 11: 58,325,727 (GRCm39) probably null Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hsd17b7 A G 1: 169,787,035 (GRCm39) V254A probably benign Het
Kif21a T A 15: 90,840,633 (GRCm39) D143V probably damaging Het
Lrrc9 T C 12: 72,557,186 (GRCm39) V1417A possibly damaging Het
Macf1 C T 4: 123,274,237 (GRCm39) A4926T possibly damaging Het
Mef2a A C 7: 66,914,620 (GRCm39) S91R probably damaging Het
Myh7 A G 14: 55,222,916 (GRCm39) probably null Het
Or6c65 T A 10: 129,603,973 (GRCm39) F203I probably benign Het
Pbx2 A G 17: 34,813,024 (GRCm39) D160G probably damaging Het
Pcdhb17 T C 18: 37,619,790 (GRCm39) F527L probably benign Het
Ppm1b T C 17: 85,301,489 (GRCm39) L123P probably damaging Het
Ppm1k T A 6: 57,499,813 (GRCm39) K154N probably benign Het
Ppp2r1a T G 17: 21,185,731 (GRCm39) *590G probably null Het
Raver1 A T 9: 20,990,536 (GRCm39) L589Q probably damaging Het
Rrbp1 A G 2: 143,832,081 (GRCm39) S29P probably damaging Het
Senp5 A G 16: 31,784,634 (GRCm39) Y673H probably damaging Het
Serpina3j T A 12: 104,281,473 (GRCm39) probably benign Het
Serpinc1 A G 1: 160,817,116 (GRCm39) E70G probably damaging Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Sva T A 6: 42,019,104 (GRCm39) H91Q probably benign Het
Tmem263 C T 10: 84,950,295 (GRCm39) Q29* probably null Het
Tpp1 T C 7: 105,400,857 (GRCm39) N57D probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r27 T A 6: 124,177,484 (GRCm39) I507L probably benign Het
Wdr11 A T 7: 129,234,046 (GRCm39) probably null Het
Zfp236 C T 18: 82,700,344 (GRCm39) E42K probably damaging 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
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
R6545:Stag3 UTSW 5 138,296,614 (GRCm39) missense possibly damaging 0.84
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
Posted On 2014-05-07