Incidental Mutation 'R0060:Satb1'
| ID |
201416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Satb1
|
| Ensembl Gene |
ENSMUSG00000023927 |
| Gene Name |
special AT-rich sequence binding protein 1 |
| Synonyms |
2610306G12Rik |
| MMRRC Submission |
038353-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0060 (G1)
|
| Quality Score |
59 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 52047231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 695
(I695F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118839
(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: I664F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: I664F
| 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: I664F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: I664F
| 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 damaging
Transcript: ENSMUST00000140979
AA Change: I695F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: I695F
| 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: I664F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: I664F
| 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: I664F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: I664F
| 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: I664F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: I664F
| 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: I664F
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: I664F
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.0%
|
| Validation Efficiency |
98% (60/61) |
| 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 |
|---|
| 1810065E05Rik |
A |
C |
11: 58,313,008 (GRCm39) |
|
probably benign |
Het |
| A630091E08Rik |
A |
G |
7: 98,192,875 (GRCm39) |
|
noncoding transcript |
Het |
| Abca8a |
T |
C |
11: 109,961,306 (GRCm39) |
T539A |
probably damaging |
Het |
| Ankrd60 |
A |
T |
2: 173,414,406 (GRCm39) |
M1K |
probably null |
Het |
| Arnt2 |
G |
A |
7: 83,996,738 (GRCm39) |
R63C |
probably damaging |
Het |
| Cabcoco1 |
A |
T |
10: 68,369,692 (GRCm39) |
|
probably null |
Het |
| Capn7 |
T |
C |
14: 31,087,561 (GRCm39) |
|
probably benign |
Het |
| Cd109 |
G |
A |
9: 78,610,389 (GRCm39) |
E1145K |
probably damaging |
Het |
| Celsr1 |
A |
T |
15: 85,806,399 (GRCm39) |
V2353D |
probably damaging |
Het |
| Cep350 |
C |
T |
1: 155,804,372 (GRCm39) |
D904N |
probably damaging |
Het |
| Chl1 |
T |
A |
6: 103,688,019 (GRCm39) |
|
probably benign |
Het |
| Colec10 |
G |
A |
15: 54,302,542 (GRCm39) |
|
probably benign |
Het |
| Cst11 |
T |
A |
2: 148,612,322 (GRCm39) |
Q105L |
probably damaging |
Het |
| Eps8l3 |
T |
C |
3: 107,786,857 (GRCm39) |
L11S |
probably damaging |
Het |
| Gsdme |
A |
G |
6: 50,198,009 (GRCm39) |
I317T |
possibly damaging |
Het |
| Itgad |
T |
C |
7: 127,802,158 (GRCm39) |
S979P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,791,442 (GRCm39) |
|
probably null |
Het |
| Nubpl |
T |
C |
12: 52,357,470 (GRCm39) |
|
probably benign |
Het |
| Or2b4 |
T |
C |
17: 38,116,891 (GRCm39) |
L285P |
probably damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,118 (GRCm39) |
Y149C |
probably damaging |
Het |
| Pard3b |
G |
A |
1: 61,678,474 (GRCm39) |
E25K |
probably damaging |
Het |
| Phactr1 |
T |
A |
13: 42,836,197 (GRCm39) |
Y8* |
probably null |
Het |
| Phf14 |
T |
C |
6: 11,953,316 (GRCm39) |
S352P |
probably damaging |
Het |
| Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
| Prap1 |
G |
T |
7: 139,673,390 (GRCm39) |
|
probably benign |
Het |
| Prdm8 |
T |
A |
5: 98,333,119 (GRCm39) |
F229I |
probably benign |
Het |
| Rfx6 |
T |
C |
10: 51,553,936 (GRCm39) |
F11L |
probably benign |
Het |
| Rfx8 |
T |
A |
1: 39,757,565 (GRCm39) |
|
probably benign |
Het |
| Rif1 |
C |
T |
2: 52,001,129 (GRCm39) |
R1528C |
probably damaging |
Het |
| Ripk4 |
G |
A |
16: 97,564,718 (GRCm39) |
|
probably benign |
Het |
| Sema4d |
A |
G |
13: 51,859,293 (GRCm39) |
|
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,527,104 (GRCm39) |
T381S |
probably benign |
Het |
| Suv39h2 |
T |
C |
2: 3,465,953 (GRCm39) |
Y134C |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,657,073 (GRCm39) |
A185V |
unknown |
Het |
| Tep1 |
T |
A |
14: 51,103,486 (GRCm39) |
D268V |
probably damaging |
Het |
| Tmem89 |
T |
A |
9: 108,744,485 (GRCm39) |
V126D |
probably damaging |
Het |
| Trf |
T |
C |
9: 103,098,121 (GRCm39) |
T46A |
probably benign |
Het |
| Trmt6 |
C |
T |
2: 132,648,689 (GRCm39) |
R415Q |
possibly damaging |
Het |
| Trp53bp1 |
T |
C |
2: 121,035,006 (GRCm39) |
K1625E |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,964,420 (GRCm39) |
I292N |
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 |
|
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 |
|
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'- TCGGCATTAACGTCTGTGCTCC -3'
(R):5'- CTTGTCTCTTTGCAGCAGCAGC -3'
Sequencing Primer
(F):5'- CTTCCTCTAGTTTCACTGAGAAAAGG -3'
(R):5'- agcagcagcaacagcag -3'
|
| Posted On |
2014-06-06 |
Incidental Mutation