Incidental Mutation 'IGL01025:Stag1'
ID60127
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stag1
Ensembl Gene ENSMUSG00000037286
Gene Namestromal antigen 1
SynonymsScc3, SA-1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01025
Quality Score
Status
Chromosome9
Chromosomal Location100597798-100959375 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100951657 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 1108 (T1108A)
Ref Sequence ENSEMBL: ENSMUSP00000116205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041418] [ENSMUST00000123302] [ENSMUST00000129269] [ENSMUST00000155108]
Predicted Effect probably benign
Transcript: ENSMUST00000041418
AA Change: T1108A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: T1108A

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Pfam:STAG 157 276 1.5e-50 PFAM
SCOP:d1qbkb_ 279 850 4e-5 SMART
low complexity region 1062 1081 N/A INTRINSIC
low complexity region 1107 1120 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123302
SMART Domains Protein: ENSMUSP00000117879
Gene: ENSMUSG00000037286

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Pfam:STAG 157 276 2.9e-51 PFAM
low complexity region 303 315 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000129269
AA Change: T1108A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: T1108A

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Pfam:STAG 160 274 3.8e-41 PFAM
SCOP:d1qbkb_ 279 850 3e-5 SMART
low complexity region 1062 1081 N/A INTRINSIC
low complexity region 1107 1120 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000143955
AA Change: T277A
SMART Domains Protein: ENSMUSP00000115460
Gene: ENSMUSG00000037286
AA Change: T277A

DomainStartEndE-ValueType
low complexity region 232 251 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000146934
AA Change: T718A
SMART Domains Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: T718A

DomainStartEndE-ValueType
low complexity region 673 692 N/A INTRINSIC
low complexity region 718 731 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149771
Predicted Effect probably benign
Transcript: ENSMUST00000155108
SMART Domains Protein: ENSMUSP00000118952
Gene: ENSMUSG00000037286

DomainStartEndE-ValueType
low complexity region 32 44 N/A INTRINSIC
low complexity region 59 72 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191345
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse embryos homozygous for a null mutation show developmental delay and die before birth. Heterozygous animals have shorter lifespan and earlier onset of tumourigenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,046,280 H1218Q possibly damaging Het
Acap3 G A 4: 155,902,219 V335M probably damaging Het
Apex1 C T 14: 50,926,254 L113F possibly damaging Het
C530008M17Rik A G 5: 76,658,074 probably benign Het
Cd33 C T 7: 43,532,905 V39M probably damaging Het
Chek2 A G 5: 110,848,670 D166G probably damaging Het
Col2a1 T C 15: 97,976,173 K1376R unknown Het
Cpd C T 11: 76,795,613 R963H probably damaging Het
Cyp2c67 A C 19: 39,639,932 Y189* probably null Het
Dock6 T C 9: 21,811,807 E1606G possibly damaging Het
Dusp4 A T 8: 34,818,512 E309V probably benign Het
Dync2h1 A G 9: 7,162,789 I600T probably damaging Het
Fer1l4 A G 2: 156,052,185 V66A probably benign Het
Fktn T C 4: 53,737,568 L269P possibly damaging Het
Ftsj3 A G 11: 106,250,359 I645T probably damaging Het
Fxr2 A G 11: 69,643,887 H198R probably damaging Het
Fzd7 T C 1: 59,484,380 V474A probably damaging Het
Gm10295 T A 7: 71,350,658 D58V unknown Het
Gm13119 T A 4: 144,363,377 L329Q probably damaging Het
Hdlbp T C 1: 93,430,169 I337V probably benign Het
Hydin T C 8: 110,326,401 V235A probably benign Het
Igfbp4 C T 11: 99,048,243 H30Y probably damaging Het
Kcna4 T C 2: 107,296,391 V490A probably damaging Het
Kcnj13 T G 1: 87,386,978 D174A probably benign Het
Krt7 T A 15: 101,423,421 L373Q probably benign Het
Lama3 G A 18: 12,481,037 V1288I probably benign Het
Mroh9 T C 1: 163,047,866 D488G possibly damaging Het
Myh7 T C 14: 54,979,537 E1121G probably damaging Het
Myom1 A G 17: 71,077,917 N768D probably damaging Het
Naa16 T C 14: 79,384,756 T48A probably damaging Het
Naglu C T 11: 101,073,947 P287S probably benign Het
Nipbl A G 15: 8,350,455 V951A possibly damaging Het
Nlrp3 T A 11: 59,551,887 M755K probably benign Het
Nlrp4e T C 7: 23,353,161 probably benign Het
Nt5dc1 C T 10: 34,407,557 A79T possibly damaging Het
Olfr432 T C 1: 174,050,685 F104S probably damaging Het
Olfr775 A T 10: 129,250,740 I69F possibly damaging Het
Olfr911-ps1 A G 9: 38,523,733 probably benign Het
Otof A G 5: 30,384,253 L774P possibly damaging Het
Phf20l1 C T 15: 66,613,132 R322C probably damaging Het
Pkhd1 C T 1: 20,209,176 G2973R probably benign Het
Plekhg5 G T 4: 152,108,526 D613Y probably damaging Het
Ppm1h T A 10: 122,878,629 probably null Het
Prpf39 T C 12: 65,042,481 probably benign Het
Rtn3 A G 19: 7,483,041 S15P unknown Het
Slc22a28 G T 19: 8,116,908 probably benign Het
Slc4a5 T A 6: 83,262,533 L143Q probably damaging Het
Sox17 T C 1: 4,492,203 D130G possibly damaging Het
Sugp2 G A 8: 70,242,535 D53N probably damaging Het
Trim33 G A 3: 103,353,918 probably benign Het
Ttn A G 2: 76,799,224 I14291T probably damaging Het
Ttn A G 2: 76,789,525 V15933A probably damaging Het
Tulp3 A C 6: 128,325,884 I324S probably damaging Het
Zfhx2 T C 14: 55,064,260 E2089G probably damaging Het
Zhx1 T C 15: 58,054,679 D57G probably benign Het
Other mutations in Stag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00649:Stag1 APN 9 100776808 missense probably damaging 1.00
IGL01010:Stag1 APN 9 100945933 missense probably benign 0.06
IGL01012:Stag1 APN 9 100855859 missense possibly damaging 0.47
IGL01307:Stag1 APN 9 100951788 intron probably benign
IGL02149:Stag1 APN 9 100887389 missense probably benign 0.09
IGL02608:Stag1 APN 9 100757769 missense probably null 0.99
IGL03008:Stag1 APN 9 100776791 missense probably damaging 1.00
IGL03210:Stag1 APN 9 100845076 missense possibly damaging 0.63
eto_o UTSW 9 100796716 missense probably damaging 1.00
PIT4280001:Stag1 UTSW 9 100942716 missense possibly damaging 0.95
R0070:Stag1 UTSW 9 100956408 missense probably null 1.00
R0070:Stag1 UTSW 9 100956408 missense probably null 1.00
R0349:Stag1 UTSW 9 100776784 missense probably damaging 0.98
R0479:Stag1 UTSW 9 100928091 missense probably benign 0.00
R0531:Stag1 UTSW 9 100954247 makesense probably null
R0962:Stag1 UTSW 9 100796827 missense probably damaging 1.00
R0976:Stag1 UTSW 9 100776824 missense probably damaging 0.98
R0976:Stag1 UTSW 9 100930016 critical splice donor site probably null
R1170:Stag1 UTSW 9 100888453 intron probably benign
R1499:Stag1 UTSW 9 100855832 missense possibly damaging 0.77
R1499:Stag1 UTSW 9 100887373 intron probably benign
R1644:Stag1 UTSW 9 100880900 intron probably benign
R1747:Stag1 UTSW 9 100888300 missense probably benign
R1799:Stag1 UTSW 9 100953462 intron probably null
R1807:Stag1 UTSW 9 100908666 missense probably benign 0.34
R1978:Stag1 UTSW 9 100888086 missense probably benign 0.03
R2029:Stag1 UTSW 9 100786687 missense probably damaging 1.00
R2161:Stag1 UTSW 9 100889595 missense probably damaging 1.00
R2300:Stag1 UTSW 9 100712500 missense possibly damaging 0.92
R2327:Stag1 UTSW 9 100786613 missense possibly damaging 0.81
R2426:Stag1 UTSW 9 100845116 critical splice donor site probably null
R2448:Stag1 UTSW 9 100888409 missense probably benign 0.42
R2504:Stag1 UTSW 9 100866210 missense probably damaging 0.99
R3713:Stag1 UTSW 9 100889618 missense probably benign 0.01
R3835:Stag1 UTSW 9 100737982 missense probably damaging 0.97
R3862:Stag1 UTSW 9 100944785 missense probably benign 0.02
R4398:Stag1 UTSW 9 100956606 utr 3 prime probably benign
R4568:Stag1 UTSW 9 100848669 missense probably damaging 1.00
R4651:Stag1 UTSW 9 100796716 missense probably damaging 1.00
R4652:Stag1 UTSW 9 100796716 missense probably damaging 1.00
R4653:Stag1 UTSW 9 100796716 missense probably damaging 1.00
R4675:Stag1 UTSW 9 100848705 missense probably damaging 1.00
R4709:Stag1 UTSW 9 100738039 missense probably damaging 0.99
R4924:Stag1 UTSW 9 100796755 missense possibly damaging 0.67
R5018:Stag1 UTSW 9 100951619 missense probably benign 0.00
R5435:Stag1 UTSW 9 100953550 missense probably benign 0.03
R5460:Stag1 UTSW 9 100956453 splice site probably null
R5805:Stag1 UTSW 9 100796778 missense probably damaging 1.00
R6127:Stag1 UTSW 9 100951697 missense probably benign 0.05
R6313:Stag1 UTSW 9 100757733 missense probably damaging 1.00
R6597:Stag1 UTSW 9 100887420 missense probably benign 0.01
R6807:Stag1 UTSW 9 100944850 missense probably damaging 1.00
R7099:Stag1 UTSW 9 100944826 missense probably benign 0.02
R7167:Stag1 UTSW 9 100945889 missense probably benign 0.05
R7395:Stag1 UTSW 9 100796728 missense probably damaging 0.99
R7504:Stag1 UTSW 9 100888328 missense probably benign 0.09
R7663:Stag1 UTSW 9 100738138 missense probably damaging 0.98
Posted On2013-07-11