Incidental Mutation 'IGL02252:Stag3'
ID286421
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 #IGL02252
Quality Score
Status
Chromosome5
Chromosomal Location138280240-138312393 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 138302548 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 923 (I923F)
Ref Sequence ENSEMBL: ENSMUSP00000125523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048028] [ENSMUST00000160849] [ENSMUST00000162245]
Predicted Effect probably damaging
Transcript: ENSMUST00000048028
AA Change: I923F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: I923F

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: I923F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: I923F

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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,614,334 probably benign Het
Actl7b A T 4: 56,741,205 I51N probably damaging Het
Adamts12 A G 15: 11,311,015 I1119M probably benign Het
Apol10a T A 15: 77,488,470 V102D probably benign Het
Atrx T C X: 105,845,823 E1628G possibly damaging Het
Btnl2 C T 17: 34,365,390 S429F possibly damaging Het
C4bp C A 1: 130,636,787 D387Y probably damaging Het
Crybg3 G T 16: 59,552,524 probably benign Het
Dcaf12 G T 4: 41,294,085 H351N probably benign Het
Fign A G 2: 63,980,639 S96P probably benign Het
Ggt5 A G 10: 75,602,732 I96V possibly damaging Het
Gm11639 C A 11: 104,753,927 R1114S possibly damaging Het
Gm3238 A G 10: 77,770,857 probably benign Het
Gm4792 G T 10: 94,295,240 P69Q unknown Het
Gm5155 G T 7: 17,910,532 V525F possibly damaging Het
Ighv1-58 A T 12: 115,312,277 N80K possibly damaging Het
Ikbkap G T 4: 56,759,813 Q1151K probably benign Het
Irgm1 C T 11: 48,866,154 G277S possibly damaging Het
Jsrp1 A G 10: 80,808,873 V233A probably benign Het
Kcp T A 6: 29,504,549 R85W probably damaging Het
Kif14 T C 1: 136,478,392 Y565H probably damaging Het
Klk1b4 G A 7: 44,210,670 W69* probably null Het
Knl1 A T 2: 119,072,540 Q1574L probably damaging Het
Lao1 A G 4: 118,967,416 N232D probably benign Het
Lipn A G 19: 34,071,757 I108V probably benign Het
Lrrc49 T A 9: 60,687,859 M1L probably benign Het
Matn2 G T 15: 34,316,590 R26L probably damaging Het
Mmp16 G A 4: 18,110,523 D440N probably damaging Het
Mn1 G A 5: 111,421,241 A1026T probably damaging Het
Mrgpra1 A T 7: 47,335,164 F256I probably benign Het
Msantd3 A C 4: 48,560,869 E148D probably benign Het
Mylk3 G T 8: 85,355,476 L361I probably benign Het
Nlrp12 A G 7: 3,245,350 S117P probably benign Het
Nsmaf T C 4: 6,398,378 E870G probably benign Het
Olfr469 C A 7: 107,823,146 A108S probably benign Het
Olfr854 T A 9: 19,566,971 I138F probably damaging Het
Oplah T C 15: 76,304,764 T320A probably damaging Het
Pard3 T G 8: 127,398,756 S729A probably benign Het
Pdzd9 T C 7: 120,663,015 I75V probably benign Het
Pgf A G 12: 85,169,425 probably benign Het
Phf1 T A 17: 26,935,135 V140D possibly damaging Het
Pkd1l3 T C 8: 109,631,076 S775P possibly damaging Het
Rhobtb1 A T 10: 69,249,685 T85S probably damaging Het
Sez6 T A 11: 77,974,513 Y659N probably damaging Het
Sfmbt1 T C 14: 30,817,733 L826P probably damaging Het
Sftpd T A 14: 41,172,514 D316V probably damaging Het
Shc2 T C 10: 79,626,370 D313G probably benign Het
Snrk T C 9: 122,157,260 Y232H probably damaging Het
Sntg1 G T 1: 8,414,228 P456Q probably benign Het
Sorbs1 A T 19: 40,314,397 N783K probably damaging Het
Tep1 T A 14: 50,830,255 H2168L possibly damaging Het
Tmem132c A T 5: 127,462,927 N339I possibly damaging Het
Trim34b A G 7: 104,329,932 T129A probably damaging Het
Ttc21a T C 9: 119,956,928 L664P probably damaging Het
Ubl5 C T 9: 20,645,627 R56* probably null Het
Ubox5 G A 2: 130,599,787 R327W probably damaging Het
Ubr5 G T 15: 38,024,894 A546E probably damaging Het
Umodl1 T C 17: 30,994,815 probably null Het
Unc45a T C 7: 80,332,969 probably benign Het
Vmn1r236 C T 17: 21,286,839 T73I probably benign Het
Vmn2r67 T G 7: 85,155,800 N35H probably benign Het
Vmn2r74 A G 7: 85,957,323 Y272H probably benign Het
Wdr43 T A 17: 71,626,850 D147E probably damaging Het
Zfp352 A T 4: 90,224,130 D169V probably benign Het
Zim1 A T 7: 6,688,628 N15K unknown 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
IGL00514:Stag3 APN 5 138300135 missense probably damaging 1.00
IGL00961:Stag3 APN 5 138298349 missense probably benign 0.01
IGL01923:Stag3 APN 5 138289230 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 On2015-04-16