Incidental Mutation 'R0347:Satb1'
ID |
38485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Satb1
|
Ensembl Gene |
ENSMUSG00000023927 |
Gene Name |
special AT-rich sequence binding protein 1 |
Synonyms |
2610306G12Rik |
MMRRC Submission |
038554-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0347 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 52046934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 763
(K763*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129667]
[ENSMUST00000133574]
[ENSMUST00000140979]
[ENSMUST00000144331]
[ENSMUST00000152830]
[ENSMUST00000169480]
[ENSMUST00000176669]
|
AlphaFold |
Q60611 |
Predicted Effect |
probably null
Transcript: ENSMUST00000129667
AA Change: K763*
|
SMART Domains |
Protein: ENSMUSP00000116020 Gene: ENSMUSG00000023927 AA Change: K763*
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 null
Transcript: ENSMUST00000133574
AA Change: K763*
|
SMART Domains |
Protein: ENSMUSP00000120536 Gene: ENSMUSG00000023927 AA Change: K763*
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 null
Transcript: ENSMUST00000140979
AA Change: K794*
|
SMART Domains |
Protein: ENSMUSP00000118839 Gene: ENSMUSG00000023927 AA Change: K794*
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 null
Transcript: ENSMUST00000144331
AA Change: K763*
|
SMART Domains |
Protein: ENSMUSP00000116006 Gene: ENSMUSG00000023927 AA Change: K763*
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 null
Transcript: ENSMUST00000152830
AA Change: K763*
|
SMART Domains |
Protein: ENSMUSP00000119842 Gene: ENSMUSG00000023927 AA Change: K763*
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 null
Transcript: ENSMUST00000169480
AA Change: K763*
|
SMART Domains |
Protein: ENSMUSP00000128841 Gene: ENSMUSG00000023927 AA Change: K763*
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 null
Transcript: ENSMUST00000176669
AA Change: K763*
|
SMART Domains |
Protein: ENSMUSP00000134957 Gene: ENSMUSG00000023927 AA Change: K763*
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 |
|
Meta Mutation Damage Score |
0.9753 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 91.8%
|
Validation Efficiency |
100% (78/78) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
A |
G |
3: 121,913,748 (GRCm39) |
E908G |
probably benign |
Het |
Abcb5 |
T |
A |
12: 118,928,986 (GRCm39) |
|
probably benign |
Het |
Adhfe1 |
T |
A |
1: 9,623,655 (GRCm39) |
F102Y |
probably benign |
Het |
Aff4 |
A |
G |
11: 53,290,915 (GRCm39) |
Y625C |
probably benign |
Het |
Alox5 |
T |
C |
6: 116,390,513 (GRCm39) |
E488G |
possibly damaging |
Het |
Ankmy2 |
T |
C |
12: 36,243,753 (GRCm39) |
C323R |
probably damaging |
Het |
Ankrd28 |
A |
G |
14: 31,423,979 (GRCm39) |
*1084R |
probably null |
Het |
Apol10a |
A |
T |
15: 77,372,891 (GRCm39) |
I176F |
probably damaging |
Het |
Arhgap26 |
C |
T |
18: 38,750,797 (GRCm39) |
T70I |
unknown |
Het |
Arid2 |
A |
G |
15: 96,268,833 (GRCm39) |
N982S |
probably benign |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Camsap3 |
A |
G |
8: 3,652,029 (GRCm39) |
D291G |
probably damaging |
Het |
Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
Cdc20b |
G |
T |
13: 113,196,361 (GRCm39) |
G162V |
probably damaging |
Het |
Cep44 |
T |
G |
8: 56,998,510 (GRCm39) |
E56A |
probably damaging |
Het |
Cfap410 |
A |
T |
10: 77,820,256 (GRCm39) |
I209F |
probably damaging |
Het |
Cfap65 |
A |
G |
1: 74,965,603 (GRCm39) |
L469P |
probably damaging |
Het |
Cilp |
T |
A |
9: 65,187,435 (GRCm39) |
C1177S |
probably benign |
Het |
Ctnnbip1 |
C |
T |
4: 149,630,211 (GRCm39) |
P7S |
probably damaging |
Het |
Cyp11a1 |
T |
C |
9: 57,923,543 (GRCm39) |
|
probably benign |
Het |
Cyp3a11 |
C |
T |
5: 145,802,735 (GRCm39) |
V253M |
possibly damaging |
Het |
D630045J12Rik |
C |
A |
6: 38,158,327 (GRCm39) |
V1117L |
probably damaging |
Het |
Dnah7b |
T |
A |
1: 46,280,104 (GRCm39) |
S2678T |
probably damaging |
Het |
Dock1 |
T |
C |
7: 134,365,596 (GRCm39) |
I428T |
probably damaging |
Het |
Fam83f |
A |
G |
15: 80,556,458 (GRCm39) |
D114G |
probably damaging |
Het |
Flt3 |
T |
A |
5: 147,294,802 (GRCm39) |
N423I |
probably damaging |
Het |
Fnbp1l |
A |
T |
3: 122,383,824 (GRCm39) |
F31L |
probably damaging |
Het |
Glrx3 |
G |
A |
7: 137,039,430 (GRCm39) |
E10K |
unknown |
Het |
Gm12185 |
T |
C |
11: 48,806,009 (GRCm39) |
E394G |
probably benign |
Het |
Gpatch1 |
C |
T |
7: 34,997,056 (GRCm39) |
V381M |
probably benign |
Het |
Grm8 |
T |
C |
6: 27,981,221 (GRCm39) |
S230G |
probably benign |
Het |
Heyl |
A |
T |
4: 123,127,733 (GRCm39) |
D25V |
probably benign |
Het |
Junb |
G |
A |
8: 85,705,107 (GRCm39) |
|
probably benign |
Het |
Klhl29 |
C |
A |
12: 5,134,354 (GRCm39) |
V747F |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,768,304 (GRCm39) |
H569R |
unknown |
Het |
Ldhb |
T |
C |
6: 142,439,859 (GRCm39) |
N227S |
probably benign |
Het |
Megf6 |
A |
G |
4: 154,339,092 (GRCm39) |
D543G |
possibly damaging |
Het |
Mrps23 |
A |
T |
11: 88,101,519 (GRCm39) |
Q136L |
probably benign |
Het |
Myh2 |
C |
T |
11: 67,076,130 (GRCm39) |
|
probably benign |
Het |
Nadk2 |
T |
A |
15: 9,084,287 (GRCm39) |
D133E |
probably benign |
Het |
Neurod4 |
G |
A |
10: 130,106,980 (GRCm39) |
T98I |
probably damaging |
Het |
Nfatc2 |
G |
T |
2: 168,378,210 (GRCm39) |
T465K |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,380,216 (GRCm39) |
S859P |
probably benign |
Het |
Nipsnap3a |
T |
C |
4: 52,997,155 (GRCm39) |
|
probably benign |
Het |
Nlrp4c |
A |
G |
7: 6,069,415 (GRCm39) |
K439E |
possibly damaging |
Het |
Or10q3 |
A |
T |
19: 11,847,797 (GRCm39) |
L261H |
probably damaging |
Het |
Or1e32 |
C |
T |
11: 73,705,137 (GRCm39) |
G257D |
probably damaging |
Het |
Or2a20 |
T |
C |
6: 43,194,296 (GRCm39) |
F150L |
probably benign |
Het |
Pds5b |
T |
A |
5: 150,659,892 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
T |
7: 3,825,873 (GRCm39) |
V332E |
probably damaging |
Het |
Plch1 |
A |
G |
3: 63,660,737 (GRCm39) |
M282T |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,071,178 (GRCm39) |
R1067L |
possibly damaging |
Het |
Polr1has |
T |
A |
17: 37,276,207 (GRCm39) |
M114K |
probably damaging |
Het |
Pou2f2 |
A |
C |
7: 24,797,126 (GRCm39) |
F206V |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,691,418 (GRCm39) |
I49V |
probably damaging |
Het |
Rexo5 |
T |
A |
7: 119,423,119 (GRCm39) |
|
probably null |
Het |
Rgl2 |
C |
T |
17: 34,151,712 (GRCm39) |
T252I |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,268,253 (GRCm39) |
K1280* |
probably null |
Het |
Rpl24 |
T |
A |
16: 55,790,540 (GRCm39) |
|
probably null |
Het |
Scart2 |
T |
A |
7: 139,877,767 (GRCm39) |
H800Q |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,424,196 (GRCm39) |
R237S |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,927,850 (GRCm39) |
T645A |
probably damaging |
Het |
Srrt |
T |
A |
5: 137,297,938 (GRCm39) |
|
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,673,335 (GRCm39) |
V1480A |
probably benign |
Het |
Tbc1d2 |
T |
C |
4: 46,620,574 (GRCm39) |
D412G |
possibly damaging |
Het |
Tecrl |
T |
C |
5: 83,442,479 (GRCm39) |
E198G |
probably damaging |
Het |
Tigd4 |
A |
G |
3: 84,501,167 (GRCm39) |
D28G |
probably damaging |
Het |
Trp53bp2 |
T |
G |
1: 182,269,213 (GRCm39) |
L226V |
probably benign |
Het |
Ttll13 |
T |
C |
7: 79,910,253 (GRCm39) |
S799P |
possibly damaging |
Het |
Vps13c |
A |
T |
9: 67,817,515 (GRCm39) |
Q1062H |
possibly damaging |
Het |
Wnt10a |
T |
G |
1: 74,832,702 (GRCm39) |
H98Q |
probably damaging |
Het |
Zbtb47 |
C |
T |
9: 121,592,168 (GRCm39) |
P198S |
probably damaging |
Het |
Zfp959 |
T |
A |
17: 56,204,180 (GRCm39) |
Y69* |
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACAGTCCTTGACGCTTCACCC -3'
(R):5'- GAACCAGCGGTACTACCTTAAGCAC -3'
Sequencing Primer
(F):5'- CACAGTAAAACCTTGAGTGCTGG -3'
(R):5'- GTGGCCGAGTACAAAGATGA -3'
|
Posted On |
2013-05-23 |