Incidental Mutation 'R1686:Satb1'
ID |
189384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Satb1
|
Ensembl Gene |
ENSMUSG00000023927 |
Gene Name |
special AT-rich sequence binding protein 1 |
Synonyms |
2610306G12Rik |
MMRRC Submission |
039719-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1686 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52047027 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 763
(S763G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118839
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129667]
[ENSMUST00000133574]
[ENSMUST00000140979]
[ENSMUST00000144331]
[ENSMUST00000152830]
[ENSMUST00000169480]
[ENSMUST00000176669]
|
AlphaFold |
Q60611 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000129667
AA Change: S732G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116020 Gene: ENSMUSG00000023927 AA Change: S732G
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: S732G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000120536 Gene: ENSMUSG00000023927 AA Change: S732G
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 benign
Transcript: ENSMUST00000140979
AA Change: S763G
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000118839 Gene: ENSMUSG00000023927 AA Change: S763G
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: S732G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000116006 Gene: ENSMUSG00000023927 AA Change: S732G
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: ENSMUST00000152830
AA Change: S732G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000119842 Gene: ENSMUSG00000023927 AA Change: S732G
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: S732G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000128841 Gene: ENSMUSG00000023927 AA Change: S732G
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: S732G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000134957 Gene: ENSMUSG00000023927 AA Change: S732G
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 |
0.0665 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
100% (85/85) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
G |
A |
10: 100,448,722 (GRCm39) |
V400I |
probably damaging |
Het |
Abcb1b |
A |
G |
5: 8,848,782 (GRCm39) |
N14S |
probably damaging |
Het |
Adamts14 |
A |
G |
10: 61,034,439 (GRCm39) |
Y1150H |
probably benign |
Het |
Adgrg3 |
A |
G |
8: 95,759,997 (GRCm39) |
N72S |
probably benign |
Het |
Akain1 |
T |
A |
17: 69,746,527 (GRCm39) |
F3I |
possibly damaging |
Het |
Akr1c21 |
T |
C |
13: 4,627,452 (GRCm39) |
L182P |
probably damaging |
Het |
Arhgap21 |
A |
T |
2: 20,886,659 (GRCm39) |
Y12N |
probably damaging |
Het |
Aup1 |
A |
T |
6: 83,032,226 (GRCm39) |
H131L |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,363,928 (GRCm39) |
T812A |
possibly damaging |
Het |
Bmp2k |
A |
G |
5: 97,211,392 (GRCm39) |
Y520C |
unknown |
Het |
Calm4 |
T |
G |
13: 3,888,302 (GRCm39) |
V136G |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,230,523 (GRCm39) |
|
probably null |
Het |
Cc2d2a |
A |
G |
5: 43,896,713 (GRCm39) |
T1537A |
possibly damaging |
Het |
Cntn2 |
A |
T |
1: 132,454,049 (GRCm39) |
V319D |
possibly damaging |
Het |
Cux1 |
G |
A |
5: 136,304,235 (GRCm39) |
R1314* |
probably null |
Het |
Cxcl12 |
A |
G |
6: 117,150,508 (GRCm39) |
I79V |
probably damaging |
Het |
Cyp2j6 |
T |
C |
4: 96,412,014 (GRCm39) |
D418G |
probably benign |
Het |
Ddx28 |
G |
C |
8: 106,737,190 (GRCm39) |
D289E |
probably damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam135a |
A |
C |
1: 24,068,887 (GRCm39) |
S448A |
probably benign |
Het |
Fbxo33 |
G |
T |
12: 59,251,626 (GRCm39) |
N30K |
possibly damaging |
Het |
Fgf12 |
A |
C |
16: 28,217,093 (GRCm39) |
Y21D |
probably damaging |
Het |
Galntl5 |
C |
T |
5: 25,415,432 (GRCm39) |
S288L |
probably benign |
Het |
Gart |
G |
T |
16: 91,422,237 (GRCm39) |
A760D |
probably damaging |
Het |
Gba2 |
A |
T |
4: 43,573,869 (GRCm39) |
|
probably benign |
Het |
Gm10518 |
C |
A |
1: 179,631,357 (GRCm39) |
S139* |
probably null |
Het |
Gm4781 |
A |
T |
10: 100,232,837 (GRCm39) |
|
noncoding transcript |
Het |
Gm9790 |
A |
G |
3: 85,823,156 (GRCm39) |
|
noncoding transcript |
Het |
Gmps |
G |
A |
3: 63,893,075 (GRCm39) |
G127R |
probably damaging |
Het |
Golim4 |
A |
T |
3: 75,802,443 (GRCm39) |
V283E |
probably benign |
Het |
Gprc5a |
A |
T |
6: 135,055,918 (GRCm39) |
I122F |
possibly damaging |
Het |
Gzmc |
T |
C |
14: 56,471,341 (GRCm39) |
K67E |
probably benign |
Het |
Hapln3 |
C |
A |
7: 78,771,638 (GRCm39) |
V84L |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,778,789 (GRCm39) |
N377Y |
possibly damaging |
Het |
Ifi211 |
G |
A |
1: 173,726,969 (GRCm39) |
H392Y |
probably damaging |
Het |
Iqgap3 |
T |
A |
3: 88,015,663 (GRCm39) |
|
probably benign |
Het |
Itga10 |
T |
A |
3: 96,559,141 (GRCm39) |
F410Y |
probably damaging |
Het |
Jup |
T |
C |
11: 100,263,260 (GRCm39) |
Y705C |
probably damaging |
Het |
Khsrp |
C |
T |
17: 57,332,597 (GRCm39) |
A228T |
probably benign |
Het |
Lmntd2 |
C |
T |
7: 140,790,998 (GRCm39) |
G445D |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,809,290 (GRCm39) |
V320A |
possibly damaging |
Het |
Magel2 |
T |
A |
7: 62,027,988 (GRCm39) |
H297Q |
possibly damaging |
Het |
Mbd6 |
T |
C |
10: 127,123,286 (GRCm39) |
E33G |
probably damaging |
Het |
Mob3b |
A |
G |
4: 34,985,910 (GRCm39) |
|
probably benign |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Mymk |
A |
T |
2: 26,952,346 (GRCm39) |
W174R |
probably damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nipal3 |
T |
C |
4: 135,174,599 (GRCm39) |
Y384C |
possibly damaging |
Het |
Nt5c3b |
A |
G |
11: 100,330,920 (GRCm39) |
|
probably benign |
Het |
Obox6 |
T |
A |
7: 15,567,750 (GRCm39) |
L232F |
probably damaging |
Het |
Obscn |
A |
C |
11: 58,997,113 (GRCm39) |
|
probably benign |
Het |
Or7g12 |
T |
C |
9: 18,899,839 (GRCm39) |
L185P |
probably damaging |
Het |
Phkb |
A |
G |
8: 86,748,278 (GRCm39) |
I706V |
probably benign |
Het |
Plcb2 |
A |
G |
2: 118,546,168 (GRCm39) |
|
probably benign |
Het |
Plek2 |
T |
C |
12: 78,941,184 (GRCm39) |
D216G |
probably damaging |
Het |
Plxnb2 |
T |
C |
15: 89,046,665 (GRCm39) |
Y855C |
probably damaging |
Het |
Prkcz |
T |
C |
4: 155,355,713 (GRCm39) |
T227A |
probably damaging |
Het |
Psma7 |
A |
T |
2: 179,679,215 (GRCm39) |
D184E |
probably benign |
Het |
Rai14 |
T |
A |
15: 10,592,282 (GRCm39) |
L204F |
probably damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,199,920 (GRCm39) |
V1208A |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,582,458 (GRCm39) |
R67G |
possibly damaging |
Het |
Ryr2 |
C |
T |
13: 11,618,665 (GRCm39) |
|
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,020,292 (GRCm39) |
H690L |
probably benign |
Het |
Sfrp5 |
A |
C |
19: 42,190,143 (GRCm39) |
V103G |
possibly damaging |
Het |
Six6 |
A |
G |
12: 72,988,451 (GRCm39) |
E208G |
probably benign |
Het |
Sspo |
A |
T |
6: 48,437,334 (GRCm39) |
H1364L |
probably benign |
Het |
Stard9 |
A |
T |
2: 120,529,973 (GRCm39) |
T2077S |
probably benign |
Het |
Tacr3 |
T |
C |
3: 134,535,254 (GRCm39) |
L74P |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,074,245 (GRCm39) |
E1880G |
probably benign |
Het |
Tgfb3 |
A |
T |
12: 86,116,517 (GRCm39) |
|
probably benign |
Het |
Thap7 |
G |
A |
16: 17,346,576 (GRCm39) |
P136S |
probably damaging |
Het |
Thoc2l |
T |
A |
5: 104,667,789 (GRCm39) |
Y770* |
probably null |
Het |
Tmc2 |
T |
C |
2: 130,098,036 (GRCm39) |
V717A |
possibly damaging |
Het |
Usp43 |
T |
A |
11: 67,778,593 (GRCm39) |
S446C |
probably damaging |
Het |
Vwa3a |
C |
T |
7: 120,379,371 (GRCm39) |
S492L |
probably damaging |
Het |
Wdhd1 |
T |
A |
14: 47,493,672 (GRCm39) |
N16I |
probably damaging |
Het |
Wdr95 |
A |
T |
5: 149,516,566 (GRCm39) |
D327V |
probably damaging |
Het |
Zfp128 |
T |
G |
7: 12,624,563 (GRCm39) |
Y310* |
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 |
|
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 |
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'- AGGCTATCCAGACTCTGTCTGCAC -3'
Sequencing Primer
(F):5'- CAAGTTTCCGAAGATTCATTGGC -3'
(R):5'- AAGCACCATGGCAAGCTGAA -3'
|
Posted On |
2014-05-14 |