Incidental Mutation 'R9656:Satb1'
| ID |
727350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Satb1
|
| Ensembl Gene |
ENSMUSG00000023927 |
| Gene Name |
special AT-rich sequence binding protein 1 |
| Synonyms |
2610306G12Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52112264 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 117
(S117T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118839
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124222]
[ENSMUST00000129205]
[ENSMUST00000129667]
[ENSMUST00000133574]
[ENSMUST00000140979]
[ENSMUST00000144331]
[ENSMUST00000148559]
[ENSMUST00000152830]
[ENSMUST00000169480]
[ENSMUST00000176669]
|
| AlphaFold |
Q60611 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129205
AA Change: S117T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000123409
Gene: ENSMUSG00000023927
AA Change: S117T
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3TUO|D
|
71 |
154 |
2e-58 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129667
AA Change: S117T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: S117T
| 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 benign
Transcript: ENSMUST00000133574
AA Change: S117T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: S117T
| 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: ENSMUST00000140979
AA Change: S117T
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: S117T
| 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 benign
Transcript: ENSMUST00000144331
AA Change: S117T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: S117T
| 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 benign
Transcript: ENSMUST00000148559
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152830
AA Change: S117T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: S117T
| 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 benign
Transcript: ENSMUST00000169480
AA Change: S117T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: S117T
| 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 benign
Transcript: ENSMUST00000176669
AA Change: S117T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: S117T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
G |
A |
8: 10,037,991 (GRCm39) |
G196E |
possibly damaging |
Het |
| Atad5 |
G |
T |
11: 79,980,542 (GRCm39) |
|
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,922,061 (GRCm39) |
T635I |
possibly damaging |
Het |
| Bbs10 |
T |
A |
10: 111,135,545 (GRCm39) |
N219K |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,994,407 (GRCm39) |
T623S |
probably benign |
Het |
| Btnl9 |
T |
C |
11: 49,060,008 (GRCm39) |
D580G |
probably damaging |
Het |
| Cckar |
A |
G |
5: 53,857,318 (GRCm39) |
L364P |
probably damaging |
Het |
| Ccn5 |
A |
G |
2: 163,670,985 (GRCm39) |
D164G |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,235,816 (GRCm39) |
M631K |
|
Het |
| Col1a1 |
T |
A |
11: 94,839,372 (GRCm39) |
S1006T |
unknown |
Het |
| Cpe |
T |
C |
8: 65,047,980 (GRCm39) |
Y428C |
probably damaging |
Het |
| Cyp2d26 |
C |
A |
15: 82,677,059 (GRCm39) |
V122L |
probably benign |
Het |
| Fam114a1 |
T |
C |
5: 65,163,246 (GRCm39) |
I181T |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,452,863 (GRCm39) |
V68A |
probably benign |
Het |
| Fanca |
A |
C |
8: 124,031,482 (GRCm39) |
V403G |
probably benign |
Het |
| Grin2a |
T |
C |
16: 9,397,471 (GRCm39) |
H872R |
possibly damaging |
Het |
| Grpel2 |
G |
T |
18: 61,859,361 (GRCm39) |
R4S |
probably benign |
Het |
| Gstm1 |
T |
C |
3: 107,925,072 (GRCm39) |
Y7C |
probably damaging |
Het |
| Hace1 |
A |
T |
10: 45,547,545 (GRCm39) |
I497F |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,279,196 (GRCm39) |
V3093A |
probably benign |
Het |
| Ighv3-4 |
A |
T |
12: 114,217,295 (GRCm39) |
F99I |
possibly damaging |
Het |
| Ints3 |
T |
C |
3: 90,299,839 (GRCm39) |
M963V |
probably null |
Het |
| Krt12 |
T |
C |
11: 99,309,471 (GRCm39) |
E263G |
|
Het |
| L1td1 |
T |
C |
4: 98,622,223 (GRCm39) |
F262L |
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,158 (GRCm39) |
H110R |
probably benign |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Ncoa6 |
A |
G |
2: 155,274,846 (GRCm39) |
I135T |
probably damaging |
Het |
| Nfatc3 |
G |
A |
8: 106,830,766 (GRCm39) |
R695H |
probably damaging |
Het |
| Nkx1-2 |
T |
A |
7: 132,201,228 (GRCm39) |
K10* |
probably null |
Het |
| Or2t44 |
G |
A |
11: 58,677,635 (GRCm39) |
A192T |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,122,633 (GRCm39) |
T7S |
probably benign |
Het |
| Or5b110-ps1 |
T |
C |
19: 13,260,035 (GRCm39) |
H129R |
possibly damaging |
Het |
| Or5b21 |
A |
G |
19: 12,839,247 (GRCm39) |
Y36C |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,959,567 (GRCm39) |
T719A |
probably damaging |
Het |
| Prkdc |
T |
G |
16: 15,617,818 (GRCm39) |
I3216M |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,438,187 (GRCm39) |
D252G |
probably benign |
Het |
| Rae1 |
T |
A |
2: 172,854,590 (GRCm39) |
Y332* |
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,940,121 (GRCm39) |
D50E |
unknown |
Het |
| Rbm6 |
G |
A |
9: 107,656,778 (GRCm39) |
R1000W |
probably damaging |
Het |
| Rd3l |
A |
T |
12: 111,946,614 (GRCm39) |
V54E |
possibly damaging |
Het |
| Rft1 |
T |
C |
14: 30,404,714 (GRCm39) |
V370A |
probably benign |
Het |
| Rfx8 |
T |
C |
1: 39,709,679 (GRCm39) |
I449M |
probably benign |
Het |
| Slc24a2 |
T |
C |
4: 86,968,144 (GRCm39) |
Y370C |
probably damaging |
Het |
| Slc5a4b |
C |
A |
10: 75,944,391 (GRCm39) |
V85L |
probably damaging |
Het |
| Snrpn |
A |
T |
7: 59,635,715 (GRCm39) |
V95E |
possibly damaging |
Het |
| Spata31e5 |
G |
T |
1: 28,816,536 (GRCm39) |
H499N |
probably benign |
Het |
| Spata33 |
A |
T |
8: 123,948,758 (GRCm39) |
N130I |
possibly damaging |
Het |
| Spmip2 |
T |
A |
3: 79,313,183 (GRCm39) |
F86I |
probably benign |
Het |
| Tap1 |
A |
G |
17: 34,412,525 (GRCm39) |
S521G |
probably damaging |
Het |
| Tbc1d13 |
C |
T |
2: 30,032,429 (GRCm39) |
T180I |
possibly damaging |
Het |
| Tgm7 |
G |
A |
2: 120,940,191 (GRCm39) |
|
probably benign |
Het |
| Tiam1 |
A |
G |
16: 89,664,459 (GRCm39) |
M583T |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Vmn1r43 |
A |
T |
6: 89,847,440 (GRCm39) |
H15Q |
possibly damaging |
Het |
| Zfp329 |
A |
T |
7: 12,544,417 (GRCm39) |
V369E |
probably damaging |
Het |
| Zfp467 |
T |
A |
6: 48,419,603 (GRCm39) |
E35V |
possibly 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 |
|
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 |
|
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'- CCTCGACATTCCACATGAGC -3'
(R):5'- GCCACGTTACCTTATGAGCAG -3'
Sequencing Primer
(F):5'- TTAAGCCAATTTTTAAAGCCACAGCC -3'
(R):5'- GTTACCTTATGAGCAGGTACACCG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation