Incidental Mutation 'R3107:Satb1'
| ID |
263644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Satb1
|
| Ensembl Gene |
ENSMUSG00000023927 |
| Gene Name |
special AT-rich sequence binding protein 1 |
| Synonyms |
2610306G12Rik |
| MMRRC Submission |
040581-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3107 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52089810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 346
(Y346N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134957
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000129667]
[ENSMUST00000133574]
[ENSMUST00000140979]
[ENSMUST00000144331]
[ENSMUST00000152830]
[ENSMUST00000169480]
[ENSMUST00000176669]
|
| AlphaFold |
Q60611 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129667
AA Change: Y346N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: Y346N
| 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: Y346N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: Y346N
| 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: Y346N
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: Y346N
| 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: Y346N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: Y346N
| 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: Y346N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: Y346N
| 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: Y346N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: Y346N
| 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: Y346N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: Y346N
| 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 |
0.0936 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf4 |
A |
T |
17: 42,977,758 (GRCm39) |
Y528* |
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,533,204 (GRCm39) |
F198L |
probably benign |
Het |
| Arnt2 |
A |
G |
7: 83,911,652 (GRCm39) |
S607P |
possibly damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,847 (GRCm39) |
L814H |
probably damaging |
Het |
| Ccdc17 |
T |
C |
4: 116,455,464 (GRCm39) |
V269A |
probably benign |
Het |
| Cers1 |
T |
A |
8: 70,775,286 (GRCm39) |
H233Q |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,830,545 (GRCm39) |
N1197S |
probably benign |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,485,452 (GRCm39) |
D1247G |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,430,000 (GRCm39) |
C373R |
probably damaging |
Het |
| Col19a1 |
T |
C |
1: 24,377,017 (GRCm39) |
T443A |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,367,158 (GRCm39) |
S1571G |
possibly damaging |
Het |
| Ddt |
C |
T |
10: 75,608,597 (GRCm39) |
E42K |
probably benign |
Het |
| Dmrt2 |
C |
A |
19: 25,655,055 (GRCm39) |
T218N |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,392,033 (GRCm39) |
G3798E |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
| Fam114a2 |
C |
A |
11: 57,390,561 (GRCm39) |
K317N |
probably benign |
Het |
| Fyn |
G |
C |
10: 39,427,451 (GRCm39) |
D445H |
probably damaging |
Het |
| Gprasp1 |
A |
T |
X: 134,700,508 (GRCm39) |
M234L |
probably benign |
Het |
| Ibtk |
T |
C |
9: 85,592,467 (GRCm39) |
Y997C |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,337,782 (GRCm39) |
V33A |
probably damaging |
Het |
| Ints6 |
T |
C |
14: 62,998,041 (GRCm39) |
T23A |
possibly damaging |
Het |
| Itk |
C |
A |
11: 46,218,291 (GRCm39) |
G624V |
probably benign |
Het |
| Lama2 |
C |
T |
10: 26,877,231 (GRCm39) |
E2652K |
probably benign |
Het |
| Mab21l3 |
T |
A |
3: 101,734,112 (GRCm39) |
I109F |
probably damaging |
Het |
| Mov10 |
T |
C |
3: 104,707,040 (GRCm39) |
E653G |
probably damaging |
Het |
| Or8b51 |
C |
T |
9: 38,569,307 (GRCm39) |
C127Y |
possibly damaging |
Het |
| Plg |
T |
C |
17: 12,603,316 (GRCm39) |
V74A |
probably benign |
Het |
| Ptprn2 |
A |
G |
12: 116,839,800 (GRCm39) |
D441G |
probably benign |
Het |
| Rbmxl2 |
G |
A |
7: 106,809,624 (GRCm39) |
G303E |
probably damaging |
Het |
| Serpina1a |
A |
T |
12: 103,820,100 (GRCm39) |
I382N |
probably damaging |
Het |
| Slc6a2 |
C |
A |
8: 93,687,906 (GRCm39) |
Q11K |
probably benign |
Het |
| Slc6a20a |
A |
C |
9: 123,470,773 (GRCm39) |
|
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,199,088 (GRCm39) |
E825G |
possibly damaging |
Het |
| Sval1 |
C |
G |
6: 41,932,876 (GRCm39) |
P145A |
probably damaging |
Het |
| Trhde |
C |
T |
10: 114,427,971 (GRCm39) |
E442K |
probably damaging |
Het |
| Vmn2r61 |
A |
T |
7: 41,916,491 (GRCm39) |
D368V |
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 |
|
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'- AGGAACACAACTGACCTGAG -3'
(R):5'- TGTCCCAGGAAACACAGCTG -3'
Sequencing Primer
(F):5'- CTGACCTGAGTTCGGTTAAAAGCC -3'
(R):5'- TGAGCAGCCTCCATCCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation