Incidental Mutation 'R1436:Satb1'
ID |
160669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Satb1
|
Ensembl Gene |
ENSMUSG00000023927 |
Gene Name |
special AT-rich sequence binding protein 1 |
Synonyms |
2610306G12Rik |
MMRRC Submission |
039491-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1436 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to G
at 52111391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123409
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124222]
[ENSMUST00000129205]
[ENSMUST00000129205]
[ENSMUST00000129205]
[ENSMUST00000129667]
[ENSMUST00000133574]
[ENSMUST00000140979]
[ENSMUST00000169480]
[ENSMUST00000144331]
[ENSMUST00000152830]
[ENSMUST00000176669]
[ENSMUST00000148559]
|
AlphaFold |
Q60611 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000124222
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129205
|
SMART Domains |
Protein: ENSMUSP00000123409 Gene: ENSMUSG00000023927
Domain | Start | End | E-Value | Type |
PDB:3TUO|D
|
71 |
154 |
2e-58 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129205
|
SMART Domains |
Protein: ENSMUSP00000123409 Gene: ENSMUSG00000023927
Domain | Start | End | E-Value | Type |
PDB:3TUO|D
|
71 |
154 |
2e-58 |
PDB |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000129205
|
SMART Domains |
Protein: ENSMUSP00000123409 Gene: ENSMUSG00000023927
Domain | Start | End | E-Value | Type |
PDB:3TUO|D
|
71 |
154 |
2e-58 |
PDB |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000129667
AA Change: M156L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116020 Gene: ENSMUSG00000023927 AA Change: M156L
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 |
probably damaging
Transcript: ENSMUST00000133574
AA Change: M156L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000120536 Gene: ENSMUSG00000023927 AA Change: M156L
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: ENSMUST00000140727
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140979
AA Change: M156L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000118839 Gene: ENSMUSG00000023927 AA Change: M156L
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 |
probably damaging
Transcript: ENSMUST00000169480
AA Change: M156L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128841 Gene: ENSMUSG00000023927 AA Change: M156L
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 |
probably damaging
Transcript: ENSMUST00000144331
AA Change: M156L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116006 Gene: ENSMUSG00000023927 AA Change: M156L
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 |
probably damaging
Transcript: ENSMUST00000152830
AA Change: M156L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000119842 Gene: ENSMUSG00000023927 AA Change: M156L
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 |
probably damaging
Transcript: ENSMUST00000176669
AA Change: M156L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000134957 Gene: ENSMUSG00000023927 AA Change: M156L
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: ENSMUST00000146414
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148559
|
Meta Mutation Damage Score |
0.1279 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 86.8%
|
Validation Efficiency |
94% (65/69) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
C |
6: 121,621,172 (GRCm39) |
F292S |
probably benign |
Het |
Aadacl2fm3 |
A |
T |
3: 59,772,760 (GRCm39) |
D88V |
probably damaging |
Het |
Abca13 |
T |
C |
11: 9,242,646 (GRCm39) |
V1503A |
probably damaging |
Het |
AI661453 |
C |
T |
17: 47,777,627 (GRCm39) |
|
probably benign |
Het |
Ano2 |
T |
C |
6: 125,844,134 (GRCm39) |
|
probably null |
Het |
Areg |
G |
T |
5: 91,287,664 (GRCm39) |
|
probably benign |
Het |
Atg16l2 |
A |
G |
7: 100,940,757 (GRCm39) |
V453A |
probably damaging |
Het |
BC034090 |
A |
G |
1: 155,101,662 (GRCm39) |
S563P |
probably benign |
Het |
Bhmt-ps1 |
A |
G |
4: 26,369,591 (GRCm39) |
|
noncoding transcript |
Het |
Birc6 |
C |
A |
17: 74,959,700 (GRCm39) |
P3855Q |
probably damaging |
Het |
Cd151 |
A |
T |
7: 141,049,197 (GRCm39) |
K8M |
probably damaging |
Het |
Cd163 |
T |
C |
6: 124,304,890 (GRCm39) |
V1089A |
possibly damaging |
Het |
Chd3 |
A |
T |
11: 69,248,400 (GRCm39) |
|
probably null |
Het |
Cnot6l |
T |
A |
5: 96,281,971 (GRCm39) |
E9V |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,794,806 (GRCm39) |
|
probably benign |
Het |
Cyp2c68 |
A |
G |
19: 39,729,484 (GRCm39) |
M1T |
probably null |
Het |
Dbp |
T |
C |
7: 45,357,879 (GRCm39) |
V149A |
probably damaging |
Het |
Dnah10 |
T |
C |
5: 124,839,285 (GRCm39) |
V1241A |
probably benign |
Het |
Galnt10 |
T |
C |
11: 57,662,295 (GRCm39) |
S314P |
probably damaging |
Het |
Glce |
C |
T |
9: 61,977,292 (GRCm39) |
|
probably null |
Het |
Gm5093 |
C |
G |
17: 46,750,680 (GRCm39) |
D116H |
probably damaging |
Het |
Golim4 |
A |
G |
3: 75,785,951 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
T |
2: 180,877,317 (GRCm39) |
I1107N |
probably damaging |
Het |
Hoxc9 |
T |
C |
15: 102,890,304 (GRCm39) |
S74P |
probably benign |
Het |
Ikbkb |
T |
A |
8: 23,163,419 (GRCm39) |
N297I |
probably benign |
Het |
Il20ra |
T |
A |
10: 19,625,000 (GRCm39) |
I93N |
probably damaging |
Het |
Itch |
C |
A |
2: 155,034,065 (GRCm39) |
N412K |
probably damaging |
Het |
Kcna5 |
T |
A |
6: 126,511,724 (GRCm39) |
T135S |
probably damaging |
Het |
Lncpint |
G |
A |
6: 31,157,974 (GRCm39) |
|
noncoding transcript |
Het |
Lrrc39 |
A |
T |
3: 116,373,293 (GRCm39) |
|
probably null |
Het |
Mad2l1 |
T |
A |
6: 66,516,797 (GRCm39) |
V163E |
possibly damaging |
Het |
Moxd1 |
C |
T |
10: 24,120,256 (GRCm39) |
T128M |
probably damaging |
Het |
Mpeg1 |
C |
T |
19: 12,439,823 (GRCm39) |
S427F |
probably damaging |
Het |
Nckap5 |
T |
C |
1: 125,953,798 (GRCm39) |
Y854C |
possibly damaging |
Het |
Ncln |
C |
T |
10: 81,325,727 (GRCm39) |
E373K |
probably damaging |
Het |
Neurod4 |
T |
C |
10: 130,106,540 (GRCm39) |
T245A |
possibly damaging |
Het |
Nsun5 |
T |
C |
5: 135,399,067 (GRCm39) |
L39P |
probably damaging |
Het |
Or2ad1 |
G |
T |
13: 21,327,162 (GRCm39) |
Q22K |
probably benign |
Het |
Or4c105 |
A |
T |
2: 88,648,336 (GRCm39) |
T274S |
possibly damaging |
Het |
Or4f7 |
A |
G |
2: 111,644,906 (GRCm39) |
L55S |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,162,678 (GRCm39) |
T815A |
probably benign |
Het |
Pofut2 |
C |
T |
10: 77,104,398 (GRCm39) |
R392W |
probably damaging |
Het |
Ppip5k2 |
G |
A |
1: 97,639,507 (GRCm39) |
T1186I |
probably benign |
Het |
Rhot2 |
A |
C |
17: 26,060,374 (GRCm39) |
S277R |
probably benign |
Het |
Sec31b |
T |
C |
19: 44,524,634 (GRCm39) |
I88V |
probably damaging |
Het |
Selenon |
T |
A |
4: 134,267,997 (GRCm39) |
E483V |
probably damaging |
Het |
Serpinc1 |
A |
G |
1: 160,820,981 (GRCm39) |
T22A |
possibly damaging |
Het |
Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
Sf3b1 |
A |
G |
1: 55,040,580 (GRCm39) |
Y561H |
possibly damaging |
Het |
Smarcc1 |
T |
A |
9: 109,947,708 (GRCm39) |
|
probably benign |
Het |
Stard3nl |
C |
T |
13: 19,556,819 (GRCm39) |
R107Q |
probably damaging |
Het |
Syce1 |
C |
T |
7: 140,357,593 (GRCm39) |
R324H |
possibly damaging |
Het |
Tnk1 |
G |
T |
11: 69,743,119 (GRCm39) |
|
probably benign |
Het |
Trim46 |
A |
G |
3: 89,150,968 (GRCm39) |
F198L |
probably damaging |
Het |
Trip4 |
A |
T |
9: 65,788,233 (GRCm39) |
W71R |
probably damaging |
Het |
Ubox5 |
A |
C |
2: 130,439,213 (GRCm39) |
|
probably benign |
Het |
Ust |
G |
A |
10: 8,183,202 (GRCm39) |
T167M |
probably damaging |
Het |
Zbtb2 |
T |
C |
10: 4,318,697 (GRCm39) |
Q443R |
probably benign |
Het |
Zfp407 |
A |
G |
18: 84,361,196 (GRCm39) |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCAAAAGCGAATAAGGCATTCTTTC -3'
(R):5'- AGGCTGTGAATATCTTCATTGACCTGC -3'
Sequencing Primer
(F):5'- TGTACACAGATGGCACTGTTC -3'
(R):5'- CAGAAGTAACACTATTGGCTGTG -3'
|
Posted On |
2014-03-14 |