Incidental Mutation 'IGL00514:Stag3'
ID5512
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stag3
Ensembl Gene ENSMUSG00000036928
Gene Namestromal antigen 3
SynonymsSA-2, stromalin 3
Accession Numbers

Ncbi RefSeq: NM_016964.2; MGI:1355311

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00514
Quality Score
Status
Chromosome5
Chromosomal Location138280240-138312393 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 138300135 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 730 (L730P)
Ref Sequence ENSEMBL: ENSMUSP00000125523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048028] [ENSMUST00000160849] [ENSMUST00000162245]
Predicted Effect probably damaging
Transcript: ENSMUST00000048028
AA Change: L730P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: L730P

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 benign
Transcript: ENSMUST00000160849
SMART Domains Protein: ENSMUSP00000125376
Gene: ENSMUSG00000036928

DomainStartEndE-ValueType
low complexity region 80 95 N/A INTRINSIC
low complexity region 122 132 N/A INTRINSIC
low complexity region 138 152 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161113
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161615
Predicted Effect probably damaging
Transcript: ENSMUST00000162245
AA Change: L730P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: L730P

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 Strain: 5287255
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,601,797 E75G unknown Het
Ank3 T C 10: 69,982,205 probably benign Het
Aplf A G 6: 87,668,408 probably benign Het
Baz2b A T 2: 59,962,477 F436I probably benign Het
Blmh A G 11: 76,967,013 D327G probably damaging Het
Bmt2 A T 6: 13,628,753 H310Q probably damaging Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Col19a1 T C 1: 24,536,932 K110E unknown Het
Cyp2c68 T C 19: 39,712,495 D293G probably damaging Het
Ears2 T A 7: 122,039,762 K480* probably null Het
Efhc1 C T 1: 20,979,481 Q522* probably null Het
Ehd4 G A 2: 120,091,213 P521S probably damaging Het
Endov G T 11: 119,491,465 probably benign Het
Fgfr2 T G 7: 130,167,711 T648P probably benign Het
Hsf5 A G 11: 87,623,096 Y329C probably damaging Het
Kntc1 T A 5: 123,791,527 S1308T probably benign Het
Mill1 A T 7: 18,264,641 T259S possibly damaging Het
Ms4a4c C T 19: 11,419,036 A111V probably damaging Het
Myh1 G T 11: 67,219,784 R1507M probably damaging Het
Nbeal1 G A 1: 60,217,225 D210N probably benign Het
Neo1 G T 9: 58,921,919 probably benign Het
Nipsnap2 A G 5: 129,754,851 D236G probably damaging Het
Plekhh2 G T 17: 84,596,306 probably null Het
Prox2 A T 12: 85,094,778 M217K probably benign Het
Rgl2 G A 17: 33,933,136 G299E probably benign Het
Rragb T G X: 153,171,298 C370W possibly damaging Het
Scn9a A T 2: 66,563,601 N209K probably damaging Het
Sec61g A T 11: 16,501,817 probably benign Het
Slc38a7 A G 8: 95,840,477 probably benign Het
Smcr8 A T 11: 60,778,367 K114* probably null Het
Syn3 A G 10: 86,354,416 L183P probably damaging Het
Tbk1 A T 10: 121,552,250 C637S probably benign Het
Tmem30c A T 16: 57,270,074 Y257N probably damaging Het
Trpm3 C T 19: 22,987,659 T1506M probably benign Het
Yes1 A C 5: 32,655,129 K248Q probably benign Het
Zfp638 A T 6: 83,956,698 K811N probably damaging Het
Other mutations in Stag3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Stag3 APN 5 138299138 missense probably damaging 1.00
IGL00336:Stag3 APN 5 138297659 missense probably benign 0.42
IGL00961:Stag3 APN 5 138298349 missense probably benign 0.01
IGL01923:Stag3 APN 5 138289230 missense probably damaging 1.00
IGL02252:Stag3 APN 5 138302548 missense probably damaging 1.00
IGL02424:Stag3 APN 5 138281985 nonsense probably null
IGL02424:Stag3 APN 5 138291366 missense probably damaging 1.00
IGL02869:Stag3 APN 5 138282693 missense probably damaging 0.96
thor UTSW 5 138301036 critical splice donor site probably null
R0016:Stag3 UTSW 5 138291381 missense possibly damaging 0.50
R0038:Stag3 UTSW 5 138301036 critical splice donor site probably null
R0038:Stag3 UTSW 5 138301036 critical splice donor site probably null
R0046:Stag3 UTSW 5 138283023 splice site probably benign
R0046:Stag3 UTSW 5 138283023 splice site probably benign
R1455:Stag3 UTSW 5 138311735 missense probably benign 0.00
R1512:Stag3 UTSW 5 138297985 missense probably benign 0.32
R1530:Stag3 UTSW 5 138297412 missense probably damaging 0.99
R1608:Stag3 UTSW 5 138298639 intron probably null
R1736:Stag3 UTSW 5 138304509 splice site probably benign
R1969:Stag3 UTSW 5 138300138 missense probably damaging 0.99
R2034:Stag3 UTSW 5 138298001 missense possibly damaging 0.82
R2214:Stag3 UTSW 5 138301266 missense possibly damaging 0.92
R2281:Stag3 UTSW 5 138298284 missense probably damaging 1.00
R2411:Stag3 UTSW 5 138283028 splice site probably benign
R3792:Stag3 UTSW 5 138298349 missense probably benign 0.01
R3887:Stag3 UTSW 5 138298839 missense probably damaging 0.99
R4255:Stag3 UTSW 5 138290881 missense probably damaging 0.98
R4777:Stag3 UTSW 5 138309199 unclassified probably benign
R4842:Stag3 UTSW 5 138309365 intron probably null
R4854:Stag3 UTSW 5 138296694 splice site probably null
R5045:Stag3 UTSW 5 138304478 missense probably damaging 1.00
R5631:Stag3 UTSW 5 138295877 missense probably damaging 0.96
R5729:Stag3 UTSW 5 138290223 missense possibly damaging 0.76
R5894:Stag3 UTSW 5 138298838 missense probably damaging 0.99
R6004:Stag3 UTSW 5 138289206 missense probably damaging 1.00
R6172:Stag3 UTSW 5 138299843 missense probably benign 0.41
R6503:Stag3 UTSW 5 138304420 missense probably damaging 0.96
R6545:Stag3 UTSW 5 138298352 missense possibly damaging 0.84
R6736:Stag3 UTSW 5 138301499 missense probably damaging 0.98
R6861:Stag3 UTSW 5 138304707 missense possibly damaging 0.55
Posted On2012-04-20