Incidental Mutation 'R0067:Satb1'
ID |
18032 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Satb1
|
Ensembl Gene |
ENSMUSG00000023927 |
Gene Name |
special AT-rich sequence binding protein 1 |
Synonyms |
2610306G12Rik |
MMRRC Submission |
038358-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0067 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52111364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 165
(T165A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134957
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124222]
[ENSMUST00000129205]
[ENSMUST00000129667]
[ENSMUST00000133574]
[ENSMUST00000140979]
[ENSMUST00000144331]
[ENSMUST00000176669]
[ENSMUST00000152830]
[ENSMUST00000169480]
[ENSMUST00000148559]
|
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 |
probably damaging
Transcript: ENSMUST00000129667
AA Change: T165A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116020 Gene: ENSMUSG00000023927 AA Change: T165A
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: T165A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000120536 Gene: ENSMUSG00000023927 AA Change: T165A
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 |
possibly damaging
Transcript: ENSMUST00000140979
AA Change: T165A
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118839 Gene: ENSMUSG00000023927 AA Change: T165A
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: ENSMUST00000144331
AA Change: T165A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116006 Gene: ENSMUSG00000023927 AA Change: T165A
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: T165A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000134957 Gene: ENSMUSG00000023927 AA Change: T165A
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: T165A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119842 Gene: ENSMUSG00000023927 AA Change: T165A
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: ENSMUST00000169480
AA Change: T165A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128841 Gene: ENSMUSG00000023927 AA Change: T165A
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 |
0.6563 |
Coding Region Coverage |
- 1x: 87.3%
- 3x: 82.3%
- 10x: 64.1%
- 20x: 35.8%
|
Validation Efficiency |
96% (73/76) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actn4 |
C |
T |
7: 28,610,995 (GRCm39) |
V248M |
possibly damaging |
Het |
AW209491 |
A |
T |
13: 14,812,328 (GRCm39) |
I394F |
probably benign |
Het |
Cacna1d |
A |
T |
14: 29,796,967 (GRCm39) |
|
probably benign |
Het |
Cacna1i |
A |
T |
15: 80,265,373 (GRCm39) |
I1542F |
probably damaging |
Het |
Cep97 |
A |
T |
16: 55,735,924 (GRCm39) |
N291K |
possibly damaging |
Het |
Clasp2 |
A |
T |
9: 113,689,209 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
T |
C |
17: 57,382,465 (GRCm39) |
Q67R |
probably damaging |
Het |
Eva1c |
A |
T |
16: 90,663,305 (GRCm39) |
D13V |
possibly damaging |
Het |
Fam151b |
T |
C |
13: 92,610,504 (GRCm39) |
K95R |
probably benign |
Het |
Gm13941 |
T |
C |
2: 110,889,761 (GRCm39) |
|
noncoding transcript |
Het |
Gps2 |
C |
T |
11: 69,805,607 (GRCm39) |
Q42* |
probably null |
Het |
Hivep1 |
T |
A |
13: 42,312,132 (GRCm39) |
D1457E |
probably benign |
Het |
L3mbtl1 |
A |
G |
2: 162,790,748 (GRCm39) |
K225E |
probably damaging |
Het |
Limch1 |
A |
G |
5: 67,131,965 (GRCm39) |
S143G |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,369,041 (GRCm39) |
K342E |
possibly damaging |
Het |
Mc5r |
T |
G |
18: 68,472,637 (GRCm39) |
M332R |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,063,060 (GRCm39) |
T882A |
probably benign |
Het |
Mtrex |
C |
T |
13: 113,023,396 (GRCm39) |
V727I |
probably benign |
Het |
Myf6 |
A |
T |
10: 107,329,340 (GRCm39) |
|
probably null |
Het |
Plekha5 |
C |
T |
6: 140,470,629 (GRCm39) |
T90I |
probably damaging |
Het |
Ptbp2 |
T |
C |
3: 119,514,290 (GRCm39) |
T478A |
probably benign |
Het |
Rasgrp1 |
C |
A |
2: 117,125,301 (GRCm39) |
R246S |
probably damaging |
Het |
Rflnb |
A |
T |
11: 75,912,987 (GRCm39) |
S134T |
possibly damaging |
Het |
Rnf214 |
A |
G |
9: 45,778,796 (GRCm39) |
|
probably null |
Het |
Scamp1 |
T |
C |
13: 94,340,658 (GRCm39) |
Y237C |
probably damaging |
Het |
Skint10 |
A |
T |
4: 112,568,753 (GRCm39) |
F321L |
probably benign |
Het |
Slc8a1 |
A |
G |
17: 81,745,188 (GRCm39) |
V672A |
probably benign |
Het |
Spats2 |
C |
A |
15: 99,110,168 (GRCm39) |
P522T |
possibly damaging |
Het |
Stkld1 |
A |
T |
2: 26,839,352 (GRCm39) |
E339D |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,960,872 (GRCm39) |
T241A |
probably damaging |
Het |
Ticrr |
A |
T |
7: 79,327,158 (GRCm39) |
D622V |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,324,131 (GRCm39) |
V326A |
probably benign |
Het |
Ube3c |
A |
G |
5: 29,803,936 (GRCm39) |
T180A |
possibly damaging |
Het |
Unc13a |
A |
C |
8: 72,087,302 (GRCm39) |
F1482V |
probably damaging |
Het |
Unc79 |
A |
G |
12: 103,025,777 (GRCm39) |
E388G |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,697,043 (GRCm39) |
D5167V |
probably damaging |
Het |
Vmn2r93 |
A |
T |
17: 18,546,672 (GRCm39) |
H848L |
probably benign |
Het |
Zcchc9 |
T |
C |
13: 91,945,368 (GRCm39) |
I72V |
probably benign |
Het |
Zfc3h1 |
G |
T |
10: 115,259,379 (GRCm39) |
L1650F |
possibly damaging |
Het |
Zzz3 |
A |
G |
3: 152,134,040 (GRCm39) |
D366G |
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 |
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 |
2013-03-25 |