Incidental Mutation 'IGL02209:Satb2'
ID284625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Satb2
Ensembl Gene ENSMUSG00000038331
Gene Namespecial AT-rich sequence binding protein 2
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02209
Quality Score
Status
Chromosome1
Chromosomal Location56793981-56978650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 56871518 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 264 (V264I)
Ref Sequence ENSEMBL: ENSMUSP00000046067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042857] [ENSMUST00000114415] [ENSMUST00000177424]
Predicted Effect probably damaging
Transcript: ENSMUST00000042857
AA Change: V264I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000046067
Gene: ENSMUSG00000038331
AA Change: V264I

DomainStartEndE-ValueType
PDB:3TUO|D 45 98 8e-19 PDB
PDB:3NZL|A 106 174 4e-35 PDB
low complexity region 235 251 N/A INTRINSIC
CUT 292 378 1.3e-36 SMART
low complexity region 381 399 N/A INTRINSIC
CUT 415 501 3.58e-39 SMART
low complexity region 510 524 N/A INTRINSIC
low complexity region 533 551 N/A INTRINSIC
HOX 555 618 1.06e-7 SMART
low complexity region 629 650 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114415
AA Change: V323I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110057
Gene: ENSMUSG00000038331
AA Change: V323I

DomainStartEndE-ValueType
Pfam:ULD 58 156 1.7e-39 PFAM
Pfam:CUTL 162 233 3.9e-46 PFAM
low complexity region 294 310 N/A INTRINSIC
CUT 351 437 1.3e-36 SMART
low complexity region 440 458 N/A INTRINSIC
CUT 474 560 3.58e-39 SMART
low complexity region 569 583 N/A INTRINSIC
low complexity region 592 610 N/A INTRINSIC
HOX 614 677 1.06e-7 SMART
low complexity region 688 709 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000177424
AA Change: V205I

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000135391
Gene: ENSMUSG00000038331
AA Change: V205I

DomainStartEndE-ValueType
PDB:3TUO|D 57 115 6e-23 PDB
low complexity region 176 192 N/A INTRINSIC
CUT 233 319 1.3e-36 SMART
low complexity region 322 340 N/A INTRINSIC
CUT 356 442 3.58e-39 SMART
low complexity region 451 465 N/A INTRINSIC
low complexity region 474 492 N/A INTRINSIC
HOX 496 559 1.06e-7 SMART
low complexity region 570 591 N/A INTRINSIC
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 DNA binding protein that specifically binds nuclear matrix attachment regions. The encoded protein is involved in transcription regulation and chromatin remodeling. Defects in this gene are associated with isolated cleft palate and mental retardation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Feb 2010]
PHENOTYPE: Homozygous inactivation of this gene causes complete perinatal lethality and craniofacial anomalies, such as cleft palate, micrognathia, microcephaly, decreased tongue size, absent incisors and nasal capsule hypoplasia, and leads to short limbs and defects in osteoblast differentiation and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 C T 17: 35,964,009 R82Q probably damaging Het
Acmsd A G 1: 127,759,755 Y258C probably damaging Het
Anapc5 A G 5: 122,800,613 I366T possibly damaging Het
Crkl C T 16: 17,469,234 T218I probably benign Het
Egf A T 3: 129,707,307 I213K possibly damaging Het
Fry A G 5: 150,437,026 T33A probably benign Het
Garnl3 T C 2: 33,085,930 D93G probably damaging Het
Hook3 C T 8: 26,070,265 D311N probably damaging Het
Iglv3 T C 16: 19,241,670 T4A probably benign Het
Kctd17 A G 15: 78,435,592 N70S probably damaging Het
Kmt2d T C 15: 98,854,567 probably benign Het
Lrif1 A C 3: 106,731,729 L18F probably damaging Het
Mfsd1 A G 3: 67,598,132 probably benign Het
Msh4 A G 3: 153,888,862 Y101H probably damaging Het
Mycbpap G A 11: 94,509,882 probably benign Het
Myt1 A G 2: 181,797,234 D183G probably benign Het
Nppc T C 1: 86,669,665 *127W probably null Het
Olfr119 G A 17: 37,700,992 M107I probably damaging Het
Olfr138 A G 17: 38,275,232 I154V probably benign Het
Olfr356 C T 2: 36,937,505 P129S probably damaging Het
Olfr641 T G 7: 104,040,456 L220R probably damaging Het
Olfr918 T C 9: 38,673,046 K146E possibly damaging Het
Pde5a A G 3: 122,825,015 probably benign Het
Pkd1l3 T C 8: 109,638,664 V1139A probably damaging Het
Pwwp2b G A 7: 139,255,105 R154Q probably damaging Het
Slc6a2 T A 8: 92,994,060 F435Y probably benign Het
Stmn2 T C 3: 8,560,261 probably benign Het
Synj1 A G 16: 90,987,419 I277T probably damaging Het
Trio C T 15: 27,744,053 A2598T probably damaging Het
Tshz2 G A 2: 169,884,764 V427M probably damaging Het
Utrn A G 10: 12,683,295 S1405P probably damaging Het
Vmn1r173 G A 7: 23,703,161 V274I probably benign Het
Vmn2r116 T C 17: 23,388,787 F443S probably damaging Het
Vps13d C A 4: 145,156,101 R974L probably damaging Het
Wapl T A 14: 34,677,261 S96T possibly damaging Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zfp692 C T 11: 58,313,998 R395* probably null Het
Other mutations in Satb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Satb2 APN 1 56831541 missense possibly damaging 0.56
IGL02008:Satb2 APN 1 56796793 missense possibly damaging 0.70
IGL02956:Satb2 APN 1 56948175 missense probably damaging 0.99
IGL03214:Satb2 APN 1 56845580 missense probably damaging 1.00
IGL03272:Satb2 APN 1 56845643 missense probably damaging 1.00
IGL03356:Satb2 APN 1 56891174 missense probably damaging 1.00
R0990:Satb2 UTSW 1 56850184 missense probably damaging 0.96
R1534:Satb2 UTSW 1 56948233 nonsense probably null
R1711:Satb2 UTSW 1 56850289 missense probably damaging 0.99
R1952:Satb2 UTSW 1 56899070 missense probably damaging 1.00
R2404:Satb2 UTSW 1 56948108 missense probably damaging 1.00
R3792:Satb2 UTSW 1 56845620 missense probably damaging 1.00
R3870:Satb2 UTSW 1 56891220 missense probably damaging 1.00
R3871:Satb2 UTSW 1 56891220 missense probably damaging 1.00
R4333:Satb2 UTSW 1 56845586 missense probably damaging 1.00
R4621:Satb2 UTSW 1 56845619 missense probably damaging 1.00
R4962:Satb2 UTSW 1 56891168 missense probably benign 0.25
R5296:Satb2 UTSW 1 56796907 missense probably damaging 0.99
R5314:Satb2 UTSW 1 56831527 missense probably damaging 0.99
R5407:Satb2 UTSW 1 56948150 missense probably damaging 1.00
R5925:Satb2 UTSW 1 56796938 missense possibly damaging 0.80
R6355:Satb2 UTSW 1 56948197 missense probably damaging 1.00
R6634:Satb2 UTSW 1 56845721 nonsense probably null
R6645:Satb2 UTSW 1 56797007 missense possibly damaging 0.51
Posted On2015-04-16