Incidental Mutation 'IGL03214:Satb2'
| ID |
413414 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Satb2
|
| Ensembl Gene |
ENSMUSG00000038331 |
| Gene Name |
special AT-rich sequence binding protein 2 |
| Synonyms |
BAP002 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03214
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
56833140-57017809 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 56884739 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 513
(S513I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110057
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042857]
[ENSMUST00000114415]
[ENSMUST00000177424]
|
| AlphaFold |
Q8VI24 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042857
AA Change: S454I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000046067
Gene: ENSMUSG00000038331
AA Change: S454I
| Domain | Start | End | E-Value | Type |
|---|
|
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: S513I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110057
Gene: ENSMUSG00000038331
AA Change: S513I
| Domain | Start | End | E-Value | Type |
|---|
|
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: S395I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135391
Gene: ENSMUSG00000038331
AA Change: S395I
| Domain | Start | End | E-Value | Type |
|---|
|
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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy1 |
T |
C |
11: 7,117,054 (GRCm39) |
|
probably benign |
Het |
| Asb5 |
T |
C |
8: 55,038,098 (GRCm39) |
V207A |
probably benign |
Het |
| Atxn3 |
G |
T |
12: 101,912,181 (GRCm39) |
|
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,839,100 (GRCm39) |
D857G |
probably benign |
Het |
| Cacna1i |
A |
G |
15: 80,239,917 (GRCm39) |
N322S |
probably benign |
Het |
| Ccn6 |
T |
C |
10: 39,029,163 (GRCm39) |
N255S |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,973,220 (GRCm39) |
W92R |
probably damaging |
Het |
| Dnah7a |
A |
C |
1: 53,561,368 (GRCm39) |
|
probably null |
Het |
| Enpep |
T |
C |
3: 129,086,896 (GRCm39) |
D581G |
probably benign |
Het |
| Fam135a |
G |
A |
1: 24,092,357 (GRCm39) |
L201F |
probably damaging |
Het |
| Gm14496 |
T |
G |
2: 181,642,329 (GRCm39) |
L667V |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,909,553 (GRCm39) |
M539K |
probably benign |
Het |
| Itpr2 |
A |
G |
6: 146,081,742 (GRCm39) |
V2261A |
probably benign |
Het |
| Krtap5-2 |
A |
G |
7: 141,728,751 (GRCm39) |
S310P |
unknown |
Het |
| Mme |
A |
T |
3: 63,237,111 (GRCm39) |
Y232F |
possibly damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,488,519 (GRCm39) |
Y58H |
probably damaging |
Het |
| Myh13 |
T |
C |
11: 67,244,411 (GRCm39) |
S983P |
possibly damaging |
Het |
| Nbas |
A |
G |
12: 13,381,111 (GRCm39) |
|
probably benign |
Het |
| Neb |
C |
T |
2: 52,049,560 (GRCm39) |
G6428R |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,087,856 (GRCm39) |
T5448S |
possibly damaging |
Het |
| Or2ag17 |
T |
A |
7: 106,389,552 (GRCm39) |
I219L |
probably benign |
Het |
| Or2t1 |
A |
T |
14: 14,328,284 (GRCm38) |
M58L |
probably damaging |
Het |
| Or52ab7 |
G |
T |
7: 102,977,873 (GRCm39) |
S60I |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,415 (GRCm39) |
Q54L |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,173 (GRCm39) |
M83T |
probably benign |
Het |
| Otx2 |
A |
G |
14: 48,898,781 (GRCm39) |
I75T |
probably damaging |
Het |
| Phex |
A |
T |
X: 155,960,500 (GRCm39) |
N681K |
probably damaging |
Het |
| Plekha8 |
C |
A |
6: 54,612,755 (GRCm39) |
A454E |
probably damaging |
Het |
| Rbfa |
C |
A |
18: 80,240,506 (GRCm39) |
K152N |
probably benign |
Het |
| Slc4a2 |
G |
T |
5: 24,639,879 (GRCm39) |
R520L |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,169,826 (GRCm39) |
H606R |
probably benign |
Het |
| Smc1b |
G |
A |
15: 84,982,147 (GRCm39) |
Q716* |
probably null |
Het |
| Syncrip |
C |
T |
9: 88,346,696 (GRCm39) |
|
probably benign |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Vps13c |
C |
T |
9: 67,804,477 (GRCm39) |
A762V |
probably null |
Het |
| Wdr64 |
C |
A |
1: 175,571,201 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Satb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00742:Satb2
|
APN |
1 |
56,870,700 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02008:Satb2
|
APN |
1 |
56,835,952 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02209:Satb2
|
APN |
1 |
56,910,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02956:Satb2
|
APN |
1 |
56,987,334 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03272:Satb2
|
APN |
1 |
56,884,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Satb2
|
APN |
1 |
56,930,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Optimism
|
UTSW |
1 |
56,884,880 (GRCm39) |
nonsense |
probably null |
|
|
prophecy
|
UTSW |
1 |
56,884,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0990:Satb2
|
UTSW |
1 |
56,889,343 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1534:Satb2
|
UTSW |
1 |
56,987,392 (GRCm39) |
nonsense |
probably null |
|
|
R1711:Satb2
|
UTSW |
1 |
56,889,448 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1952:Satb2
|
UTSW |
1 |
56,938,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2404:Satb2
|
UTSW |
1 |
56,987,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3792:Satb2
|
UTSW |
1 |
56,884,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3870:Satb2
|
UTSW |
1 |
56,930,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3871:Satb2
|
UTSW |
1 |
56,930,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4333:Satb2
|
UTSW |
1 |
56,884,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4621:Satb2
|
UTSW |
1 |
56,884,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4962:Satb2
|
UTSW |
1 |
56,930,327 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5296:Satb2
|
UTSW |
1 |
56,836,066 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5314:Satb2
|
UTSW |
1 |
56,870,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5407:Satb2
|
UTSW |
1 |
56,987,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5925:Satb2
|
UTSW |
1 |
56,836,097 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6355:Satb2
|
UTSW |
1 |
56,987,356 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6634:Satb2
|
UTSW |
1 |
56,884,880 (GRCm39) |
nonsense |
probably null |
|
|
R6645:Satb2
|
UTSW |
1 |
56,836,166 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7578:Satb2
|
UTSW |
1 |
56,910,943 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7694:Satb2
|
UTSW |
1 |
56,910,683 (GRCm39) |
missense |
probably benign |
|
|
R7811:Satb2
|
UTSW |
1 |
56,884,880 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7961:Satb2
|
UTSW |
1 |
56,910,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8009:Satb2
|
UTSW |
1 |
56,910,917 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8023:Satb2
|
UTSW |
1 |
56,930,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Satb2
|
UTSW |
1 |
56,870,623 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8745:Satb2
|
UTSW |
1 |
57,008,796 (GRCm39) |
missense |
unknown |
|
|
R8960:Satb2
|
UTSW |
1 |
56,910,470 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9382:Satb2
|
UTSW |
1 |
56,870,797 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation