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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |