Incidental Mutation 'IGL02971:Satb1'
ID 365799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Satb1
Ensembl Gene ENSMUSG00000023927
Gene Name special AT-rich sequence binding protein 1
Synonyms 2610306G12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02971
Quality Score
Status
Chromosome 17
Chromosomal Location 52043215-52140318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52049717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 579 (D579G)
Ref Sequence ENSEMBL: ENSMUSP00000134957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000129667] [ENSMUST00000133574] [ENSMUST00000140979] [ENSMUST00000144331] [ENSMUST00000152830] [ENSMUST00000169480] [ENSMUST00000176669]
AlphaFold Q60611
Predicted Effect possibly damaging
Transcript: ENSMUST00000129667
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: D579G

DomainStartEndE-ValueType
PDB:3TUO|D 71 171 5e-66 PDB
PDB:3NZL|A 179 250 5e-45 PDB
Blast:CUT 245 327 9e-48 BLAST
CUT 362 448 1.08e-38 SMART
CUT 485 571 4.41e-39 SMART
low complexity region 593 619 N/A INTRINSIC
HOX 644 707 6.73e-10 SMART
low complexity region 720 730 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000133574
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: D579G

DomainStartEndE-ValueType
PDB:3TUO|D 71 171 5e-66 PDB
PDB:3NZL|A 179 250 5e-45 PDB
Blast:CUT 245 327 9e-48 BLAST
CUT 362 448 1.08e-38 SMART
CUT 485 571 4.41e-39 SMART
low complexity region 593 620 N/A INTRINSIC
HOX 645 708 6.73e-10 SMART
low complexity region 721 731 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137697
Predicted Effect probably benign
Transcript: ENSMUST00000140979
AA Change: D579G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: D579G

DomainStartEndE-ValueType
Pfam:ULD 72 170 3.2e-40 PFAM
Pfam:CUTL 176 247 1.6e-46 PFAM
CUT 362 448 1.08e-38 SMART
CUT 485 571 4.41e-39 SMART
low complexity region 616 661 N/A INTRINSIC
HOX 676 739 6.73e-10 SMART
low complexity region 752 762 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000144331
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: D579G

DomainStartEndE-ValueType
PDB:3TUO|D 71 171 5e-66 PDB
PDB:3NZL|A 179 250 5e-45 PDB
Blast:CUT 245 327 9e-48 BLAST
CUT 362 448 1.08e-38 SMART
CUT 485 571 4.41e-39 SMART
low complexity region 593 620 N/A INTRINSIC
HOX 645 708 6.73e-10 SMART
low complexity region 721 731 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000152830
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: D579G

DomainStartEndE-ValueType
PDB:3TUO|D 71 171 5e-66 PDB
PDB:3NZL|A 179 250 5e-45 PDB
Blast:CUT 245 327 9e-48 BLAST
CUT 362 448 1.08e-38 SMART
CUT 485 571 4.41e-39 SMART
low complexity region 593 620 N/A INTRINSIC
HOX 645 708 6.73e-10 SMART
low complexity region 721 731 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169480
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: D579G

DomainStartEndE-ValueType
PDB:3TUO|D 71 171 5e-66 PDB
PDB:3NZL|A 179 250 5e-45 PDB
Blast:CUT 245 327 9e-48 BLAST
CUT 362 448 1.08e-38 SMART
CUT 485 571 4.41e-39 SMART
low complexity region 593 620 N/A INTRINSIC
HOX 645 708 6.73e-10 SMART
low complexity region 721 731 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000176669
AA Change: D579G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: D579G

DomainStartEndE-ValueType
PDB:3TUO|D 71 171 5e-66 PDB
PDB:3NZL|A 179 250 5e-45 PDB
Blast:CUT 245 327 9e-48 BLAST
CUT 362 448 1.08e-38 SMART
CUT 485 571 4.41e-39 SMART
low complexity region 593 620 N/A INTRINSIC
HOX 645 708 6.73e-10 SMART
low complexity region 721 731 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194215
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 encodes a matrix protein which binds nuclear matrix and scaffold-associating DNAs through a unique nuclear architecture. The protein recruits chromatin-remodeling factors in order to regulate chromatin structure and gene expression. [provided by RefSeq, Apr 2016]
PHENOTYPE: Homozygous mice for a targeted null mutation exhibit reduced size of the lymphoid organs, abnormal T cell development, general growth retardation and die by 3-4 weeks of age. Mice homozegous for a different targeted allele exhibit postnatal growth retardation and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Tmem220 A G 11: 66,924,933 (GRCm39) probably null Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in Satb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Satb1 APN 17 52,112,317 (GRCm39) missense probably damaging 1.00
IGL01658:Satb1 APN 17 52,082,279 (GRCm39) missense probably benign 0.33
IGL02070:Satb1 APN 17 52,047,095 (GRCm39) missense probably damaging 0.98
IGL02212:Satb1 APN 17 52,082,319 (GRCm39) missense possibly damaging 0.82
R0049:Satb1 UTSW 17 52,047,374 (GRCm39) missense probably benign 0.28
R0056:Satb1 UTSW 17 52,047,231 (GRCm39) missense probably damaging 1.00
R0060:Satb1 UTSW 17 52,047,231 (GRCm39) missense probably damaging 1.00
R0067:Satb1 UTSW 17 52,111,364 (GRCm39) missense probably damaging 1.00
R0067:Satb1 UTSW 17 52,111,364 (GRCm39) missense probably damaging 1.00
R0113:Satb1 UTSW 17 52,089,726 (GRCm39) nonsense probably null
R0347:Satb1 UTSW 17 52,046,934 (GRCm39) nonsense probably null
R0667:Satb1 UTSW 17 52,089,889 (GRCm39) missense probably damaging 1.00
R1436:Satb1 UTSW 17 52,111,391 (GRCm39) splice site probably null
R1595:Satb1 UTSW 17 52,089,729 (GRCm39) missense possibly damaging 0.82
R1686:Satb1 UTSW 17 52,047,027 (GRCm39) missense probably benign 0.08
R1921:Satb1 UTSW 17 52,049,143 (GRCm39) nonsense probably null
R1952:Satb1 UTSW 17 52,047,173 (GRCm39) missense probably damaging 1.00
R2012:Satb1 UTSW 17 52,089,816 (GRCm39) nonsense probably null
R2156:Satb1 UTSW 17 52,047,438 (GRCm39) missense probably benign 0.02
R2180:Satb1 UTSW 17 52,110,524 (GRCm39) missense probably damaging 0.96
R2959:Satb1 UTSW 17 52,082,331 (GRCm39) missense possibly damaging 0.91
R3107:Satb1 UTSW 17 52,089,810 (GRCm39) missense possibly damaging 0.95
R3108:Satb1 UTSW 17 52,089,810 (GRCm39) missense possibly damaging 0.95
R3814:Satb1 UTSW 17 52,089,935 (GRCm39) missense probably damaging 0.98
R4109:Satb1 UTSW 17 52,111,378 (GRCm39) missense probably damaging 0.99
R4727:Satb1 UTSW 17 52,111,375 (GRCm39) missense probably damaging 1.00
R5209:Satb1 UTSW 17 52,116,235 (GRCm39) missense probably benign 0.26
R5652:Satb1 UTSW 17 52,049,823 (GRCm39) missense probably damaging 1.00
R5815:Satb1 UTSW 17 52,089,981 (GRCm39) missense possibly damaging 0.92
R6141:Satb1 UTSW 17 52,082,404 (GRCm39) missense possibly damaging 0.93
R6370:Satb1 UTSW 17 52,089,825 (GRCm39) missense possibly damaging 0.94
R7371:Satb1 UTSW 17 52,090,008 (GRCm39) nonsense probably null
R7409:Satb1 UTSW 17 52,116,217 (GRCm39) missense possibly damaging 0.90
R7471:Satb1 UTSW 17 52,090,029 (GRCm39) missense probably damaging 0.96
R7568:Satb1 UTSW 17 52,089,752 (GRCm39) missense possibly damaging 0.88
R7626:Satb1 UTSW 17 52,074,995 (GRCm39) missense probably benign 0.25
R7749:Satb1 UTSW 17 52,074,961 (GRCm39) missense possibly damaging 0.70
R7863:Satb1 UTSW 17 52,112,350 (GRCm39) missense possibly damaging 0.91
R8339:Satb1 UTSW 17 52,089,977 (GRCm39) missense probably damaging 0.97
R8429:Satb1 UTSW 17 52,074,978 (GRCm39) missense probably damaging 1.00
R8987:Satb1 UTSW 17 52,112,381 (GRCm39) missense probably damaging 1.00
R9160:Satb1 UTSW 17 52,047,053 (GRCm39) missense probably benign
R9251:Satb1 UTSW 17 52,112,293 (GRCm39) missense probably damaging 1.00
R9656:Satb1 UTSW 17 52,112,264 (GRCm39) missense possibly damaging 0.95
Z1088:Satb1 UTSW 17 52,089,980 (GRCm39) missense probably damaging 0.98
Z1088:Satb1 UTSW 17 52,089,967 (GRCm39) missense probably damaging 0.99
Posted On 2015-12-18