Incidental Mutation 'R2180:Satb1'
| ID |
237160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Satb1
|
| Ensembl Gene |
ENSMUSG00000023927 |
| Gene Name |
special AT-rich sequence binding protein 1 |
| Synonyms |
2610306G12Rik |
| MMRRC Submission |
040182-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2180 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52110524 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 192
(A192T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124222]
[ENSMUST00000129205]
[ENSMUST00000129667]
[ENSMUST00000133574]
[ENSMUST00000140979]
[ENSMUST00000144331]
[ENSMUST00000152830]
[ENSMUST00000176669]
[ENSMUST00000169480]
|
| AlphaFold |
Q60611 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129205
|
| SMART Domains |
Protein: ENSMUSP00000123409
Gene: ENSMUSG00000023927
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3TUO|D
|
71 |
154 |
2e-58 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129667
AA Change: A192T
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: A192T
| 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: A192T
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: A192T
| 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 damaging
Transcript: ENSMUST00000140979
AA Change: A192T
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: A192T
| 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: A192T
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: A192T
| 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: A192T
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: A192T
| 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: A192T
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: A192T
| 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: A192T
PolyPhen 2
Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: A192T
| 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 |
noncoding transcript
Transcript: ENSMUST00000193576
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.1%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
T |
C |
16: 85,684,812 (GRCm39) |
D377G |
probably damaging |
Het |
| Adgrl4 |
A |
T |
3: 151,205,779 (GRCm39) |
I164F |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,213,735 (GRCm39) |
|
probably null |
Het |
| Aox4 |
A |
T |
1: 58,252,226 (GRCm39) |
T34S |
probably benign |
Het |
| Asic1 |
G |
T |
15: 99,569,846 (GRCm39) |
V56F |
probably benign |
Het |
| Atpaf1 |
T |
C |
4: 115,645,557 (GRCm39) |
M1T |
probably null |
Het |
| Axin1 |
A |
G |
17: 26,362,309 (GRCm39) |
T218A |
probably benign |
Het |
| Bdp1 |
ATTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTC |
13: 100,197,913 (GRCm39) |
|
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,919,146 (GRCm39) |
I1988T |
probably benign |
Het |
| Btbd7 |
A |
T |
12: 102,752,156 (GRCm39) |
D869E |
probably damaging |
Het |
| Caln1 |
T |
C |
5: 130,868,249 (GRCm39) |
*220Q |
probably null |
Het |
| Ccdc150 |
G |
A |
1: 54,311,706 (GRCm39) |
|
probably null |
Het |
| Ccnt1 |
A |
T |
15: 98,441,481 (GRCm39) |
S596T |
possibly damaging |
Het |
| Cd44 |
C |
T |
2: 102,658,955 (GRCm39) |
G640E |
possibly damaging |
Het |
| Cep192 |
A |
G |
18: 67,957,813 (GRCm39) |
E582G |
possibly damaging |
Het |
| Clcnkb |
G |
T |
4: 141,136,819 (GRCm39) |
|
probably null |
Het |
| Dhx29 |
T |
C |
13: 113,099,406 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,059,621 (GRCm39) |
F4407S |
probably benign |
Het |
| Enah |
A |
T |
1: 181,746,024 (GRCm39) |
M419K |
probably damaging |
Het |
| Fancd2 |
A |
T |
6: 113,551,598 (GRCm39) |
T1055S |
probably benign |
Het |
| Gigyf2 |
G |
A |
1: 87,344,642 (GRCm39) |
G525D |
probably damaging |
Het |
| Gm5800 |
T |
A |
14: 51,953,451 (GRCm39) |
K55* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,511,489 (GRCm39) |
L170P |
probably damaging |
Het |
| Grik4 |
A |
T |
9: 42,453,301 (GRCm39) |
Y695N |
probably benign |
Het |
| Gsg1 |
A |
T |
6: 135,217,143 (GRCm39) |
V228D |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,941,353 (GRCm39) |
T445M |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,875,525 (GRCm39) |
D1656E |
probably damaging |
Het |
| Hyou1 |
A |
T |
9: 44,299,316 (GRCm39) |
K669M |
probably benign |
Het |
| Itga2 |
T |
C |
13: 114,985,917 (GRCm39) |
N953D |
possibly damaging |
Het |
| Ldhd |
T |
C |
8: 112,356,018 (GRCm39) |
I122V |
probably benign |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,329 (GRCm39) |
D262G |
probably damaging |
Het |
| Mapkapk5 |
T |
C |
5: 121,673,927 (GRCm39) |
|
probably null |
Het |
| Msantd5l |
C |
A |
11: 51,145,437 (GRCm39) |
W50L |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,593,829 (GRCm39) |
H838L |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,649,197 (GRCm39) |
I976T |
probably benign |
Het |
| Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
| Or2a12 |
C |
T |
6: 42,904,459 (GRCm39) |
T98I |
probably benign |
Het |
| Or4f14b |
A |
G |
2: 111,775,348 (GRCm39) |
V151A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,706,092 (GRCm39) |
I213T |
probably benign |
Het |
| Patj |
G |
A |
4: 98,411,739 (GRCm39) |
|
probably null |
Het |
| Pfas |
T |
C |
11: 68,883,013 (GRCm39) |
D757G |
possibly damaging |
Het |
| Pom121l2 |
A |
G |
13: 22,166,145 (GRCm39) |
N139D |
probably benign |
Het |
| Ppp2r3d |
A |
T |
9: 101,004,214 (GRCm39) |
Y994* |
probably null |
Het |
| Ppp6c |
T |
C |
2: 39,087,525 (GRCm39) |
D227G |
probably benign |
Het |
| Ptpn13 |
T |
G |
5: 103,717,424 (GRCm39) |
H1855Q |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,604,867 (GRCm39) |
Q59L |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,972 (GRCm39) |
K669E |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,816,683 (GRCm39) |
S348P |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,615,970 (GRCm39) |
N161K |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,345,117 (GRCm39) |
V1083A |
probably benign |
Het |
| Sec14l2 |
C |
T |
11: 4,058,964 (GRCm39) |
A194T |
probably damaging |
Het |
| Sema4b |
A |
G |
7: 79,862,583 (GRCm39) |
N53S |
probably benign |
Het |
| Sin3b |
T |
A |
8: 73,479,923 (GRCm39) |
Y876* |
probably null |
Het |
| Smchd1 |
C |
A |
17: 71,770,794 (GRCm39) |
M129I |
probably benign |
Het |
| Spmip6 |
T |
A |
4: 41,507,170 (GRCm39) |
M209L |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,801,448 (GRCm39) |
Y484C |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,656,801 (GRCm39) |
S135P |
probably damaging |
Het |
| Zfp266 |
A |
T |
9: 20,410,975 (GRCm39) |
C401S |
probably damaging |
Het |
| Zfp738 |
G |
A |
13: 67,819,313 (GRCm39) |
T226I |
probably damaging |
Het |
| Zfp871 |
G |
A |
17: 32,994,275 (GRCm39) |
T300M |
probably damaging |
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 |
|
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 |
|
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'- TCAAAGGTCACCAGTGGTCAATC -3'
(R):5'- AGGAGACCGAGAGCAATCTC -3'
Sequencing Primer
(F):5'- GGTCACCAGTGGTCAATCACTTAG -3'
(R):5'- GACCGAGAGCAATCTCCAGATG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation