Incidental Mutation 'R7378:Stag3'
ID 572462
Institutional Source Beutler Lab
Gene Symbol Stag3
Ensembl Gene ENSMUSG00000036928
Gene Name stromal antigen 3
Synonyms SA-2, stromalin 3
MMRRC Submission 045460-MU
Accession Numbers

Ncbi RefSeq: NM_016964.2; MGI:1355311

Essential gene? Non essential (E-score: 0.000) question?
Stock # R7378 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 138280240-138312393 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138281960 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 29 (R29H)
Ref Sequence ENSEMBL: ENSMUSP00000040945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014089] [ENSMUST00000048028] [ENSMUST00000159067] [ENSMUST00000160729] [ENSMUST00000161691] [ENSMUST00000161827] [ENSMUST00000161984] [ENSMUST00000162245]
AlphaFold O70576
Predicted Effect probably benign
Transcript: ENSMUST00000014089
SMART Domains Protein: ENSMUSP00000014089
Gene: ENSMUSG00000029510

DomainStartEndE-ValueType
Pfam:Glypican 7 560 2.8e-186 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048028
AA Change: R29H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: R29H

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 probably benign
Transcript: ENSMUST00000159067
SMART Domains Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

DomainStartEndE-ValueType
Pfam:Glypican 7 250 1e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160729
AA Change: R29H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928
AA Change: R29H

DomainStartEndE-ValueType
low complexity region 6 26 N/A INTRINSIC
low complexity region 75 90 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161691
SMART Domains Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928

DomainStartEndE-ValueType
low complexity region 44 59 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161827
SMART Domains Protein: ENSMUSP00000124459
Gene: ENSMUSG00000029510

DomainStartEndE-ValueType
Pfam:Glypican 11 566 3.1e-199 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161984
SMART Domains Protein: ENSMUSP00000137879
Gene: ENSMUSG00000029510

DomainStartEndE-ValueType
Pfam:Glypican 7 342 3.7e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162245
AA Change: R29H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: R29H

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (138/140)
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: 142 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A C 6: 128,546,247 (GRCm38) probably null Het
Aars A G 8: 111,042,342 (GRCm38) Y258C probably damaging Het
Acaa2 A T 18: 74,805,872 (GRCm38) Y376F probably benign Het
Adcy1 C T 11: 7,169,543 (GRCm38) S1062F possibly damaging Het
Adgrb3 A T 1: 25,531,919 (GRCm38) C492* probably null Het
Adgrg6 A G 10: 14,535,892 (GRCm38) F22S probably benign Het
Adh1 A G 3: 138,288,887 (GRCm38) probably null Het
Afm T A 5: 90,551,400 (GRCm38) C568S probably benign Het
Ago4 C T 4: 126,511,464 (GRCm38) E439K probably benign Het
Aifm2 T G 10: 61,727,717 (GRCm38) V122G possibly damaging Het
Akap6 A G 12: 53,142,574 (GRCm38) N2257S probably benign Het
Ap3m2 A G 8: 22,804,010 (GRCm38) I8T probably benign Het
Apc2 C A 10: 80,311,394 (GRCm38) L761I probably damaging Het
Arntl C A 7: 113,299,208 (GRCm38) T281K probably benign Het
Asap2 A G 12: 21,112,051 (GRCm38) D3G probably benign Het
Asna1 A T 8: 85,019,863 (GRCm38) F119I probably benign Het
Asxl1 T C 2: 153,401,993 (GRCm38) C1489R probably damaging Het
Atm T G 9: 53,453,437 (GRCm38) probably null Het
Bpifa6 C A 2: 153,986,433 (GRCm38) A153E probably damaging Het
Cav2 A G 6: 17,282,060 (GRCm38) T106A probably benign Het
Cavin4 A G 4: 48,663,631 (GRCm38) N4D probably benign Het
Cenpc1 T C 5: 86,046,499 (GRCm38) N136S probably benign Het
Cfap45 T A 1: 172,538,343 (GRCm38) probably null Het
Col3a1 G A 1: 45,327,647 (GRCm38) probably null Het
Crocc2 C T 1: 93,194,087 (GRCm38) L653F probably damaging Het
Cry2 A G 2: 92,413,664 (GRCm38) L388P probably damaging Het
Cstb T C 10: 78,426,988 (GRCm38) F43S probably damaging Het
Ctcfl A G 2: 173,112,258 (GRCm38) Y349H probably damaging Het
Ctu2 T A 8: 122,481,499 (GRCm38) V485D probably damaging Het
Cwc25 A C 11: 97,747,997 (GRCm38) L367R possibly damaging Het
Dock4 T A 12: 40,788,244 (GRCm38) H1061Q possibly damaging Het
Dpy19l3 C A 7: 35,752,642 (GRCm38) V26L probably benign Het
Dusp27 G T 1: 166,112,063 (GRCm38) S58* probably null Het
Elmo1 A T 13: 20,280,935 (GRCm38) I225F probably benign Het
Ep300 T C 15: 81,650,545 (GRCm38) S2268P probably damaging Het
F2r C T 13: 95,618,328 (GRCm38) C16Y probably damaging Het
Fam126b T C 1: 58,530,034 (GRCm38) K462R probably benign Het
Fbxo33 C A 12: 59,204,371 (GRCm38) E453* probably null Het
Flot1 A T 17: 35,825,513 (GRCm38) D186V probably damaging Het
Fmn2 CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC 1: 174,609,203 (GRCm38) probably benign Het
Fras1 T C 5: 96,596,785 (GRCm38) C560R probably damaging Het
Gfi1 A T 5: 107,723,229 (GRCm38) S165T possibly damaging Het
Gli2 T C 1: 118,848,492 (GRCm38) D400G probably damaging Het
Gm11639 T C 11: 104,714,702 (GRCm38) I298T probably benign Het
Gm37240 T A 3: 84,972,637 (GRCm38) probably null Het
Gml C T 15: 74,817,121 (GRCm38) V27I possibly damaging Het
Htt A T 5: 34,803,799 (GRCm38) I257F probably benign Het
Ier5 C T 1: 155,098,692 (GRCm38) V247M probably damaging Het
Ift46 C T 9: 44,778,595 (GRCm38) probably benign Het
Il12b A G 11: 44,407,894 (GRCm38) T59A probably benign Het
Insr A G 8: 3,198,231 (GRCm38) L438P probably damaging Het
Iqgap2 C T 13: 95,732,890 (GRCm38) probably null Het
Irx4 A T 13: 73,267,553 (GRCm38) T154S possibly damaging Het
Itgbl1 A G 14: 123,857,489 (GRCm38) K309E probably benign Het
Kcns2 T A 15: 34,839,703 (GRCm38) L404* probably null Het
Kif2c T C 4: 117,162,029 (GRCm38) E644G possibly damaging Het
Klhl22 T C 16: 17,776,805 (GRCm38) L266P probably damaging Het
Krt71 T A 15: 101,738,329 (GRCm38) K315* probably null Het
Lca5 T C 9: 83,395,530 (GRCm38) N587S probably benign Het
Lrp1b T A 2: 41,295,669 (GRCm38) M1459L Het
Lrrtm2 T C 18: 35,213,592 (GRCm38) K219R probably damaging Het
Mcmbp T C 7: 128,704,517 (GRCm38) D459G probably damaging Het
Megf8 A G 7: 25,348,942 (GRCm38) H1680R probably damaging Het
Mia3 A G 1: 183,334,775 (GRCm38) S301P probably benign Het
Mtrr A G 13: 68,564,402 (GRCm38) Y622H probably damaging Het
Myo7b T A 18: 31,966,239 (GRCm38) Q1710L probably damaging Het
Nab1 T C 1: 52,480,995 (GRCm38) N276D probably damaging Het
Nalcn C T 14: 123,302,890 (GRCm38) R1127H probably damaging Het
Nbas T A 12: 13,274,219 (GRCm38) I110N probably damaging Het
Nfe2l3 C T 6: 51,457,296 (GRCm38) Q279* probably null Het
Nlrp9c C T 7: 26,365,015 (GRCm38) E963K probably benign Het
Nsmaf A G 4: 6,416,586 (GRCm38) V569A probably benign Het
Olfr1066 T C 2: 86,456,068 (GRCm38) T68A probably benign Het
Olfr1338 T C 4: 118,754,175 (GRCm38) Y123C possibly damaging Het
Olfr199 T A 16: 59,215,920 (GRCm38) D231V probably benign Het
Olfr273 C T 4: 52,856,421 (GRCm38) V31I probably benign Het
Olfr481 T C 7: 108,081,192 (GRCm38) S133P not run Het
Olfr669 A T 7: 104,939,431 (GRCm38) I302F probably benign Het
Olfr69 T A 7: 103,767,930 (GRCm38) I156F probably benign Het
Olfr851 T A 9: 19,497,102 (GRCm38) M118K probably damaging Het
Olfr857 A T 9: 19,712,887 (GRCm38) D20V probably damaging Het
Olfr933 T A 9: 38,975,721 (GRCm38) V15E probably benign Het
Paf1 A G 7: 28,396,928 (GRCm38) Y322C probably damaging Het
Pcdha2 C A 18: 36,939,385 (GRCm38) A23D possibly damaging Het
Pcdhb6 G A 18: 37,335,172 (GRCm38) C382Y probably damaging Het
Pdzd7 C T 19: 45,045,606 (GRCm38) G13D probably damaging Het
Pik3r2 T C 8: 70,769,381 (GRCm38) N586S probably benign Het
Pik3r3 T A 4: 116,270,830 (GRCm38) D119E probably benign Het
Pkd2l1 T A 19: 44,153,715 (GRCm38) I535F probably benign Het
Ppfia3 T C 7: 45,361,446 (GRCm38) probably null Het
Ppl T A 16: 5,112,996 (GRCm38) Q53L possibly damaging Het
Rimbp3 T G 16: 17,211,204 (GRCm38) S831A probably benign Het
Rnps1 A G 17: 24,418,530 (GRCm38) T49A unknown Het
Rpl7a T A 2: 26,912,007 (GRCm38) probably null Het
Rrm2b T A 15: 37,931,647 (GRCm38) E248D probably benign Het
Sdhaf4 A G 1: 23,996,358 (GRCm38) F70L probably damaging Het
Sel1l3 A T 5: 53,116,409 (GRCm38) S1038R probably benign Het
Selenoo T A 15: 89,089,478 (GRCm38) F124I probably benign Het
Setbp1 A T 18: 78,857,486 (GRCm38) Y989N probably damaging Het
Slc1a7 A G 4: 108,002,203 (GRCm38) E163G possibly damaging Het
Slc22a2 T C 17: 12,612,391 (GRCm38) F356S probably damaging Het
Slc24a4 C T 12: 102,239,176 (GRCm38) P378L probably benign Het
Slc4a1ap A G 5: 31,527,527 (GRCm38) D169G probably benign Het
Slc4a7 T A 14: 14,757,421 (GRCm38) V422D probably damaging Het
Slitrk6 T C 14: 110,749,863 (GRCm38) Y804C probably damaging Het
Smarcad1 T A 6: 65,110,376 (GRCm38) H906Q probably benign Het
Smn1 A G 13: 100,127,865 (GRCm38) T109A probably damaging Het
Sntb2 A G 8: 106,981,312 (GRCm38) N236S probably damaging Het
Spag9 T A 11: 94,114,351 (GRCm38) probably null Het
Spg11 C A 2: 122,058,429 (GRCm38) G2154W probably damaging Het
Srsf6 T C 2: 162,934,569 (GRCm38) S278P unknown Het
Stambp C T 6: 83,563,906 (GRCm38) V98I not run Het
Suco T C 1: 161,862,211 (GRCm38) D89G possibly damaging Het
Suox C T 10: 128,671,041 (GRCm38) V373I probably benign Het
Sv2b T A 7: 75,147,728 (GRCm38) probably null Het
Tatdn2 T C 6: 113,704,701 (GRCm38) L565P probably damaging Het
Tbpl2 T A 2: 24,094,700 (GRCm38) E145V probably benign Het
Tlr1 T C 5: 64,925,228 (GRCm38) I669V not run Het
Tmc1 A T 19: 20,868,389 (GRCm38) F157I probably damaging Het
Tmem26 T G 10: 68,724,092 (GRCm38) probably null Het
Tmem33 A T 5: 67,286,133 (GRCm38) I218F probably benign Het
Tmem94 T A 11: 115,794,174 (GRCm38) D862E probably damaging Het
Tnr T C 1: 159,884,862 (GRCm38) probably null Het
Tnrc6c T C 11: 117,741,780 (GRCm38) S1103P probably benign Het
Tomm70a T A 16: 57,146,044 (GRCm38) Y453* probably null Het
Trabd C A 15: 89,085,290 (GRCm38) R229S possibly damaging Het
Trappc10 T C 10: 78,193,418 (GRCm38) D1095G probably damaging Het
Trim27 A G 13: 21,192,461 (GRCm38) T460A possibly damaging Het
Tsen54 T G 11: 115,821,705 (GRCm38) D433E probably benign Het
Ubap2 A G 4: 41,235,515 (GRCm38) probably null Het
Vat1l A T 8: 114,289,392 (GRCm38) N341Y possibly damaging Het
Vmn2r82 C G 10: 79,396,442 (GRCm38) Y758* probably null Het
Vps16 T G 2: 130,438,179 (GRCm38) V108G probably damaging Het
Vps53 T A 11: 76,077,074 (GRCm38) I585F possibly damaging Het
Wrnip1 G A 13: 32,816,281 (GRCm38) V424M probably benign Het
Yif1a G A 19: 5,089,790 (GRCm38) V88M possibly damaging Het
Zfat T C 15: 68,181,120 (GRCm38) Y275C probably damaging Het
Zfhx3 A G 8: 108,793,248 (GRCm38) E334G probably damaging Het
Zfp277 T C 12: 40,315,853 (GRCm38) D539G possibly damaging Het
Zfp292 A T 4: 34,808,384 (GRCm38) N1558K probably benign Het
Zfp3 A G 11: 70,772,073 (GRCm38) K286R probably benign Het
Zfp366 T C 13: 99,229,515 (GRCm38) C395R probably damaging Het
Other mutations in Stag3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Stag3 APN 5 138,299,138 (GRCm38) missense probably damaging 1.00
IGL00336:Stag3 APN 5 138,297,659 (GRCm38) missense probably benign 0.42
IGL00514:Stag3 APN 5 138,300,135 (GRCm38) missense probably damaging 1.00
IGL00961:Stag3 APN 5 138,298,349 (GRCm38) missense probably benign 0.01
IGL01923:Stag3 APN 5 138,289,230 (GRCm38) missense probably damaging 1.00
IGL02252:Stag3 APN 5 138,302,548 (GRCm38) missense probably damaging 1.00
IGL02424:Stag3 APN 5 138,291,366 (GRCm38) missense probably damaging 1.00
IGL02424:Stag3 APN 5 138,281,985 (GRCm38) nonsense probably null
IGL02869:Stag3 APN 5 138,282,693 (GRCm38) missense probably damaging 0.96
thor UTSW 5 138,301,036 (GRCm38) critical splice donor site probably null
R0016:Stag3 UTSW 5 138,291,381 (GRCm38) missense possibly damaging 0.50
R0038:Stag3 UTSW 5 138,301,036 (GRCm38) critical splice donor site probably null
R0038:Stag3 UTSW 5 138,301,036 (GRCm38) critical splice donor site probably null
R0046:Stag3 UTSW 5 138,283,023 (GRCm38) splice site probably benign
R0046:Stag3 UTSW 5 138,283,023 (GRCm38) splice site probably benign
R1455:Stag3 UTSW 5 138,311,735 (GRCm38) missense probably benign 0.00
R1512:Stag3 UTSW 5 138,297,985 (GRCm38) missense probably benign 0.32
R1530:Stag3 UTSW 5 138,297,412 (GRCm38) missense probably damaging 0.99
R1608:Stag3 UTSW 5 138,298,639 (GRCm38) splice site probably null
R1736:Stag3 UTSW 5 138,304,509 (GRCm38) splice site probably benign
R1969:Stag3 UTSW 5 138,300,138 (GRCm38) missense probably damaging 0.99
R2034:Stag3 UTSW 5 138,298,001 (GRCm38) missense possibly damaging 0.82
R2214:Stag3 UTSW 5 138,301,266 (GRCm38) missense possibly damaging 0.92
R2281:Stag3 UTSW 5 138,298,284 (GRCm38) missense probably damaging 1.00
R2411:Stag3 UTSW 5 138,283,028 (GRCm38) splice site probably benign
R3792:Stag3 UTSW 5 138,298,349 (GRCm38) missense probably benign 0.01
R3887:Stag3 UTSW 5 138,298,839 (GRCm38) missense probably damaging 0.99
R4255:Stag3 UTSW 5 138,290,881 (GRCm38) missense probably damaging 0.98
R4777:Stag3 UTSW 5 138,309,199 (GRCm38) unclassified probably benign
R4842:Stag3 UTSW 5 138,309,365 (GRCm38) splice site probably null
R4854:Stag3 UTSW 5 138,296,694 (GRCm38) splice site probably null
R5045:Stag3 UTSW 5 138,304,478 (GRCm38) missense probably damaging 1.00
R5631:Stag3 UTSW 5 138,295,877 (GRCm38) missense probably damaging 0.96
R5729:Stag3 UTSW 5 138,290,223 (GRCm38) missense possibly damaging 0.76
R5894:Stag3 UTSW 5 138,298,838 (GRCm38) missense probably damaging 0.99
R6004:Stag3 UTSW 5 138,289,206 (GRCm38) missense probably damaging 1.00
R6172:Stag3 UTSW 5 138,299,843 (GRCm38) missense probably benign 0.41
R6503:Stag3 UTSW 5 138,304,420 (GRCm38) missense probably damaging 0.96
R6545:Stag3 UTSW 5 138,298,352 (GRCm38) missense possibly damaging 0.84
R6736:Stag3 UTSW 5 138,301,499 (GRCm38) missense probably damaging 0.98
R6861:Stag3 UTSW 5 138,304,707 (GRCm38) missense possibly damaging 0.55
R7012:Stag3 UTSW 5 138,297,609 (GRCm38) splice site probably null
R7358:Stag3 UTSW 5 138,301,508 (GRCm38) missense probably damaging 1.00
R7392:Stag3 UTSW 5 138,291,366 (GRCm38) missense probably damaging 1.00
R7395:Stag3 UTSW 5 138,281,945 (GRCm38) missense probably benign 0.33
R7818:Stag3 UTSW 5 138,301,443 (GRCm38) missense probably benign 0.00
R8017:Stag3 UTSW 5 138,301,203 (GRCm38) missense possibly damaging 0.80
R8019:Stag3 UTSW 5 138,301,203 (GRCm38) missense possibly damaging 0.80
R8076:Stag3 UTSW 5 138,283,142 (GRCm38) missense probably damaging 0.96
R8393:Stag3 UTSW 5 138,296,755 (GRCm38) missense probably damaging 0.98
R8405:Stag3 UTSW 5 138,304,652 (GRCm38) missense probably damaging 0.99
R8417:Stag3 UTSW 5 138,308,588 (GRCm38) missense probably benign
R8734:Stag3 UTSW 5 138,311,788 (GRCm38) missense probably benign 0.36
R8848:Stag3 UTSW 5 138,290,266 (GRCm38) missense probably null 0.97
R8966:Stag3 UTSW 5 138,291,404 (GRCm38) missense probably damaging 0.99
R9029:Stag3 UTSW 5 138,298,034 (GRCm38) missense probably damaging 1.00
R9292:Stag3 UTSW 5 138,301,450 (GRCm38) missense probably benign 0.01
R9410:Stag3 UTSW 5 138,299,339 (GRCm38) missense possibly damaging 0.95
R9645:Stag3 UTSW 5 138,301,439 (GRCm38) missense possibly damaging 0.78
R9723:Stag3 UTSW 5 138,299,841 (GRCm38) missense probably benign
Z1177:Stag3 UTSW 5 138,301,292 (GRCm38) missense possibly damaging 0.65
Predicted Primers PCR Primer
(F):5'- ACCTCGATGTGGTTAGGTTGAC -3'
(R):5'- TGTCATATGGCCCCACATAC -3'

Sequencing Primer
(F):5'- CATAGTACTGAGACCACATTCTGGG -3'
(R):5'- TGTCATATGGCCCCACATACACTAC -3'
Posted On 2019-09-13