Incidental Mutation 'IGL02008:Satb2'
ID183248
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 #IGL02008
Quality Score
Status
Chromosome1
Chromosomal Location56793981-56978650 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 56796793 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 731 (D731V)
Ref Sequence ENSEMBL: ENSMUSP00000110057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042857] [ENSMUST00000114415] [ENSMUST00000177424]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042857
AA Change: D672V

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046067
Gene: ENSMUSG00000038331
AA Change: D672V

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 possibly damaging
Transcript: ENSMUST00000114415
AA Change: D731V

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110057
Gene: ENSMUSG00000038331
AA Change: D731V

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 possibly damaging
Transcript: ENSMUST00000177424
AA Change: D613V

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135391
Gene: ENSMUSG00000038331
AA Change: D613V

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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 122,176,101 T2252A probably benign Het
Abcc2 C T 19: 43,821,750 probably benign Het
Abcf1 T C 17: 35,962,062 E231G probably benign Het
Astn2 T C 4: 66,059,153 Y379C probably damaging Het
Atp8b1 G T 18: 64,538,695 probably benign Het
Atr T A 9: 95,881,420 probably benign Het
Bdp1 A G 13: 100,023,827 S2349P possibly damaging Het
Bmp2 T C 2: 133,560,966 S146P probably damaging Het
Cacna1c T C 6: 118,715,924 S218G probably null Het
Cand2 T C 6: 115,803,638 V1161A probably damaging Het
Clec16a T C 16: 10,580,960 V330A probably damaging Het
Cpsf1 A T 15: 76,603,091 V161D probably damaging Het
Ctsh A G 9: 90,061,547 Y75C probably damaging Het
Cyp26c1 C A 19: 37,688,923 L267M probably damaging Het
Cyp26c1 T A 19: 37,688,924 L267Q probably damaging Het
Cyp2c50 G A 19: 40,091,099 W212* probably null Het
Dnah5 T A 15: 28,343,552 M2366K probably damaging Het
Ermp1 A G 19: 29,612,920 M794T probably damaging Het
F11 G T 8: 45,250,095 S186Y probably damaging Het
Fam184b A T 5: 45,532,823 F815I possibly damaging Het
Fezf2 T C 14: 12,343,705 I347V probably benign Het
Fip1l1 C T 5: 74,545,423 T114I possibly damaging Het
Gbp7 A C 3: 142,546,450 D598A probably benign Het
Gm1110 T A 9: 26,883,230 D500V probably benign Het
Gm1840 A T 8: 5,639,896 noncoding transcript Het
Gm3248 T A 14: 5,943,928 M99L probably benign Het
Gm906 G A 13: 50,246,685 P535L probably benign Het
Hspa9 G A 18: 34,947,975 R218* probably null Het
Ikbip G A 10: 91,093,257 probably null Het
Kcnb2 C T 1: 15,710,809 T635M probably benign Het
Krtap29-1 T A 11: 99,978,279 I259F possibly damaging Het
Lnpep T C 17: 17,570,957 T442A probably benign Het
Mgat1 T A 11: 49,260,735 I15N probably damaging Het
Nlrp9c A T 7: 26,385,151 S334R probably benign Het
Notch2 A T 3: 98,147,296 D2425V probably damaging Het
Ntn1 C T 11: 68,213,263 V520M probably damaging Het
Olfr1089 A C 2: 86,733,177 I145R possibly damaging Het
Olfr1167 A T 2: 88,149,578 V147E probably damaging Het
Olfr1179 T A 2: 88,402,077 T286S possibly damaging Het
Olfr149 A G 9: 39,702,253 V172A probably damaging Het
Olfr803 T A 10: 129,692,018 T8S probably benign Het
Olfr972 A T 9: 39,873,485 D70V probably damaging Het
Osr2 A G 15: 35,301,992 H246R probably damaging Het
Papolg T C 11: 23,879,898 R224G probably damaging Het
Pax6 T A 2: 105,692,278 probably null Het
Pcyox1 A G 6: 86,392,268 V192A probably benign Het
Phf1 C T 17: 26,935,286 A159V possibly damaging Het
Ppfia4 G A 1: 134,332,391 R45W probably damaging Het
Psmb9 T A 17: 34,183,679 K109M probably damaging Het
Ptprt T A 2: 161,927,673 Y424F probably benign Het
Ptrh2 A G 11: 86,689,766 I70V probably benign Het
Rnf213 G A 11: 119,418,309 probably benign Het
Rom1 T A 19: 8,928,004 I271F probably benign Het
Serpinb7 G T 1: 107,448,129 G159V possibly damaging Het
Slit1 T C 19: 41,646,140 I393V probably damaging Het
Spata20 T A 11: 94,483,463 D327V probably damaging Het
Tbc1d32 G T 10: 56,151,775 Q744K possibly damaging Het
Thegl A T 5: 77,060,758 I378L probably benign Het
Tmem108 G T 9: 103,489,240 N517K possibly damaging Het
Trp63 T A 16: 25,862,461 N160K probably damaging Het
Ttll5 T C 12: 85,933,611 S119P probably damaging Het
Ubqln3 T A 7: 104,142,316 Q189L probably damaging Het
Vwa5a G A 9: 38,737,776 R638H probably benign Het
Wdr3 A G 3: 100,150,982 S436P probably damaging Het
Zfp975 A T 7: 42,662,791 C133S probably damaging Het
Zfp976 A T 7: 42,614,232 probably benign Het
Zmiz1 A G 14: 25,656,879 M860V probably damaging Het
Zscan4d T C 7: 11,162,369 E358G probably benign Het
Other mutations in Satb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Satb2 APN 1 56831541 missense possibly damaging 0.56
IGL02209:Satb2 APN 1 56871518 missense probably damaging 1.00
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 On2014-05-07