Incidental Mutation 'R7863:Satb1'
ID 607691
Institutional Source Beutler Lab
Gene Symbol Satb1
Ensembl Gene ENSMUSG00000023927
Gene Name special AT-rich sequence binding protein 1
Synonyms 2610306G12Rik
MMRRC Submission 045916-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7863 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 52043215-52140318 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52112350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 88 (E88G)
Ref Sequence ENSEMBL: ENSMUSP00000116006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000124222] [ENSMUST00000129205] [ENSMUST00000129667] [ENSMUST00000133574] [ENSMUST00000140979] [ENSMUST00000144331] [ENSMUST00000148559] [ENSMUST00000152830] [ENSMUST00000169480] [ENSMUST00000176669]
AlphaFold Q60611
Predicted Effect probably benign
Transcript: ENSMUST00000124222
Predicted Effect possibly damaging
Transcript: ENSMUST00000129205
AA Change: E88G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123409
Gene: ENSMUSG00000023927
AA Change: E88G

DomainStartEndE-ValueType
PDB:3TUO|D 71 154 2e-58 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000129667
AA Change: E88G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: E88G

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: E88G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: E88G

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: ENSMUST00000140979
AA Change: E88G

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: E88G

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: E88G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: E88G

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 probably benign
Transcript: ENSMUST00000148559
Predicted Effect possibly damaging
Transcript: ENSMUST00000152830
AA Change: E88G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: E88G

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: E88G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: E88G

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: E88G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: E88G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,838,101 (GRCm39) S829P probably benign Het
Abca1 A T 4: 53,107,179 (GRCm39) F183I probably benign Het
Abca12 A T 1: 71,332,656 (GRCm39) M1235K probably damaging Het
Abca7 A G 10: 79,844,655 (GRCm39) D1488G probably damaging Het
Adgrl3 A G 5: 81,660,596 (GRCm39) Y387C probably damaging Het
Adnp T C 2: 168,031,270 (GRCm39) K14E possibly damaging Het
Ago3 T C 4: 126,243,990 (GRCm39) R721G possibly damaging Het
Aldh3b3 T A 19: 4,015,322 (GRCm39) Y196* probably null Het
Alox12b T C 11: 69,057,753 (GRCm39) W506R probably damaging Het
Arid4b A G 13: 14,338,734 (GRCm39) I402V probably benign Het
Cep55 C T 19: 38,046,247 (GRCm39) probably benign Het
Chl1 A G 6: 103,683,475 (GRCm39) N767S possibly damaging Het
Cldn6 A G 17: 23,900,096 (GRCm39) N20S probably benign Het
Col23a1 A T 11: 51,463,597 (GRCm39) I420F probably damaging Het
Cxcr6 G A 9: 123,639,914 (GRCm39) R312Q probably damaging Het
Cyp4a10 T C 4: 115,375,622 (GRCm39) V35A probably benign Het
Def6 A G 17: 28,446,841 (GRCm39) N548D possibly damaging Het
Dock6 A G 9: 21,757,954 (GRCm39) V50A possibly damaging Het
Epha8 T A 4: 136,660,966 (GRCm39) I639F probably damaging Het
Ephx2 T A 14: 66,344,692 (GRCm39) R211* probably null Het
Espn C T 4: 152,236,616 (GRCm39) V17M probably damaging Het
Ezr A G 17: 7,008,863 (GRCm39) L403P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Golm1 T C 13: 59,797,383 (GRCm39) Y154C probably damaging Het
Gpam A G 19: 55,059,388 (GRCm39) Y820H probably damaging Het
Gpr12 T C 5: 146,520,370 (GRCm39) D184G possibly damaging Het
Gpr87 C T 3: 59,087,317 (GRCm39) A63T probably damaging Het
Hmx2 G T 7: 131,156,082 (GRCm39) G16V probably benign Het
Hspg2 T C 4: 137,292,135 (GRCm39) V4009A probably benign Het
Iglc3 T C 16: 18,884,248 (GRCm39) D61G not run Het
Ikzf2 G T 1: 69,609,796 (GRCm39) Q144K possibly damaging Het
Il1rap C T 16: 26,495,461 (GRCm39) R23C probably damaging Het
Kctd9 T A 14: 67,967,166 (GRCm39) D161E possibly damaging Het
Klhl8 T C 5: 104,019,968 (GRCm39) N351S probably benign Het
Krt28 G A 11: 99,255,999 (GRCm39) T420I possibly damaging Het
Marchf7 T A 2: 60,071,366 (GRCm39) H623Q probably benign Het
Max A G 12: 76,986,848 (GRCm39) I63T probably damaging Het
Mrpl28 T A 17: 26,343,615 (GRCm39) V125E possibly damaging Het
Mtmr10 T A 7: 63,969,205 (GRCm39) D322E probably benign Het
Mtrex T C 13: 113,045,435 (GRCm39) T366A probably benign Het
Nlrp4f A T 13: 65,342,059 (GRCm39) Y529N possibly damaging Het
Nlrx1 A G 9: 44,176,509 (GRCm39) I31T probably benign Het
Oaz2 G A 9: 65,596,449 (GRCm39) R171Q possibly damaging Het
Or4c121 T G 2: 89,024,295 (GRCm39) I28L probably benign Het
Or5a1 T G 19: 12,097,974 (GRCm39) D34A possibly damaging Het
Or5t16 T G 2: 86,819,424 (GRCm39) Y32S probably damaging Het
Pcdhgc4 T A 18: 37,951,027 (GRCm39) Y814* probably null Het
Pcm1 T A 8: 41,714,163 (GRCm39) I243K probably damaging Het
Pdcd11 A T 19: 47,085,403 (GRCm39) N171I probably damaging Het
Phf20l1 T A 15: 66,487,084 (GRCm39) V400E possibly damaging Het
Pira13 C T 7: 3,827,801 (GRCm39) probably null Het
Psg28 T A 7: 18,162,042 (GRCm39) T154S possibly damaging Het
Ptgs2 T A 1: 149,977,090 (GRCm39) M99K probably damaging Het
Ptprh T A 7: 4,606,097 (GRCm39) M1L probably benign Het
Rbp4 T C 19: 38,112,546 (GRCm39) T140A possibly damaging Het
Rhbdd3 G A 11: 5,053,236 (GRCm39) R12Q probably benign Het
Saal1 T C 7: 46,342,327 (GRCm39) N372S probably benign Het
Shfl G A 9: 20,782,672 (GRCm39) A79T possibly damaging Het
Slc49a3 A T 5: 108,593,400 (GRCm39) L146Q probably damaging Het
Slc6a9 G T 4: 117,721,207 (GRCm39) C319F probably damaging Het
Smc6 T G 12: 11,339,130 (GRCm39) V322G probably benign Het
Snrnp200 T A 2: 127,073,609 (GRCm39) F1336I probably damaging Het
Spg7 T A 8: 123,815,788 (GRCm39) probably null Het
Stab2 G A 10: 86,808,745 (GRCm39) T188I probably benign Het
Tbata A G 10: 61,011,521 (GRCm39) E19G probably benign Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Ticrr T C 7: 79,331,760 (GRCm39) V757A possibly damaging Het
Tle1 T C 4: 72,059,529 (GRCm39) S261G probably null Het
Tlr3 T A 8: 45,850,774 (GRCm39) I708L probably benign Het
Tph2 A C 10: 114,915,906 (GRCm39) S422R probably damaging Het
Trim26 A G 17: 37,161,664 (GRCm39) T28A probably damaging Het
Trmt10c A G 16: 55,855,554 (GRCm39) L27S probably benign Het
Tubb6 T C 18: 67,534,790 (GRCm39) S230P probably damaging Het
Usf1 C T 1: 171,245,385 (GRCm39) Q266* probably null Het
Vegfa A G 17: 46,336,461 (GRCm39) F220L probably damaging Het
Vmn2r105 C T 17: 20,428,937 (GRCm39) C713Y probably benign Het
Vmn2r17 T A 5: 109,568,035 (GRCm39) S53T probably benign Het
Xirp2 A T 2: 67,343,074 (GRCm39) T1772S probably benign Het
Zfp462 T C 4: 55,007,747 (GRCm39) I62T probably benign Het
Zfp516 T A 18: 83,019,453 (GRCm39) I1157N probably benign Het
Zfp819 C A 7: 43,267,316 (GRCm39) Q600K 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
IGL02971:Satb1 APN 17 52,049,717 (GRCm39) missense possibly damaging 0.62
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
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
Predicted Primers PCR Primer
(F):5'- ACAGGAGGACCAGCAACTTC -3'
(R):5'- CCTTATGAGCAGGTACACCG -3'

Sequencing Primer
(F):5'- GGACCAGCAACTTCCCAGC -3'
(R):5'- CCTTATGAGCAGGTACACCGTAAAG -3'
Posted On 2019-12-20