Incidental Mutation 'R7749:Satb1'
| ID |
597124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Satb1
|
| Ensembl Gene |
ENSMUSG00000023927 |
| Gene Name |
special AT-rich sequence binding protein 1 |
| Synonyms |
2610306G12Rik |
| MMRRC Submission |
045805-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7749 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
52043215-52140318 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52074961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 512
(S512P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116006
(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: S512P
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116020
Gene: ENSMUSG00000023927
AA Change: S512P
| 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: S512P
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120536
Gene: ENSMUSG00000023927
AA Change: S512P
| 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: S512P
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000118839
Gene: ENSMUSG00000023927
AA Change: S512P
| 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: S512P
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000116006
Gene: ENSMUSG00000023927
AA Change: S512P
| 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: S512P
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119842
Gene: ENSMUSG00000023927
AA Change: S512P
| 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: S512P
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128841
Gene: ENSMUSG00000023927
AA Change: S512P
| 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: S512P
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000134957
Gene: ENSMUSG00000023927
AA Change: S512P
| 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 |
0.6360 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (66/67) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1a |
A |
T |
19: 46,368,186 (GRCm39) |
S254T |
probably benign |
Het |
| Adam12 |
G |
A |
7: 133,826,542 (GRCm39) |
A22V |
unknown |
Het |
| Adarb2 |
A |
G |
13: 8,619,775 (GRCm39) |
D87G |
possibly damaging |
Het |
| Aldh6a1 |
A |
T |
12: 84,488,855 (GRCm39) |
I59N |
probably benign |
Het |
| Ankrd50 |
C |
T |
3: 38,536,870 (GRCm39) |
C161Y |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,515 (GRCm39) |
|
probably null |
Het |
| Anks1 |
T |
A |
17: 28,257,115 (GRCm39) |
I707N |
probably damaging |
Het |
| Atoh1 |
A |
T |
6: 64,706,904 (GRCm39) |
M200L |
possibly damaging |
Het |
| Bmp1 |
C |
T |
14: 70,730,284 (GRCm39) |
R416H |
probably damaging |
Het |
| Caprin1 |
A |
G |
2: 103,602,099 (GRCm39) |
S548P |
probably benign |
Het |
| Ccdc167 |
T |
A |
17: 29,924,247 (GRCm39) |
Y63F |
possibly damaging |
Het |
| Cfap99 |
T |
A |
5: 34,465,284 (GRCm39) |
D174E |
probably benign |
Het |
| Chil3 |
T |
G |
3: 106,056,161 (GRCm39) |
N331T |
probably benign |
Het |
| Chmp5 |
T |
A |
4: 40,949,488 (GRCm39) |
I35N |
probably damaging |
Het |
| Cpt1c |
A |
T |
7: 44,611,689 (GRCm39) |
S537T |
probably benign |
Het |
| Dctn1 |
A |
T |
6: 83,163,123 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
A |
17: 80,546,287 (GRCm39) |
M1366L |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,802,656 (GRCm39) |
Y3478F |
probably damaging |
Het |
| Efna3 |
A |
G |
3: 89,223,947 (GRCm39) |
Y81H |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,192,608 (GRCm39) |
V812A |
probably damaging |
Het |
| Erg |
A |
T |
16: 95,178,216 (GRCm39) |
I237N |
probably benign |
Het |
| Fem1c |
G |
T |
18: 46,657,185 (GRCm39) |
N176K |
probably damaging |
Het |
| Fgd4 |
T |
C |
16: 16,293,018 (GRCm39) |
Y233C |
probably benign |
Het |
| Foxd2 |
G |
A |
4: 114,765,009 (GRCm39) |
A337V |
unknown |
Het |
| Gsdma2 |
T |
C |
11: 98,548,547 (GRCm39) |
L433P |
unknown |
Het |
| Hmcn2 |
C |
A |
2: 31,343,045 (GRCm39) |
|
probably null |
Het |
| Hnrnpul2 |
T |
C |
19: 8,797,788 (GRCm39) |
V48A |
probably benign |
Het |
| Hsf1 |
T |
A |
15: 76,383,387 (GRCm39) |
S396T |
probably benign |
Het |
| Htr5b |
G |
T |
1: 121,455,487 (GRCm39) |
N144K |
probably damaging |
Het |
| Igkv9-120 |
T |
C |
6: 68,027,172 (GRCm39) |
S29P |
probably damaging |
Het |
| Igsf10 |
T |
A |
3: 59,236,549 (GRCm39) |
N1211Y |
possibly damaging |
Het |
| Kcnh1 |
A |
C |
1: 191,959,447 (GRCm39) |
I334L |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,276,346 (GRCm39) |
I158T |
probably benign |
Het |
| Mgat4f |
A |
T |
1: 134,318,250 (GRCm39) |
M341L |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,539,213 (GRCm39) |
T2063A |
probably damaging |
Het |
| Nceh1 |
T |
A |
3: 27,261,531 (GRCm39) |
D47E |
probably benign |
Het |
| Nckap5 |
A |
G |
1: 125,952,383 (GRCm39) |
S1390P |
probably damaging |
Het |
| Npepps |
T |
G |
11: 97,158,454 (GRCm39) |
I104L |
probably benign |
Het |
| Numb |
A |
G |
12: 83,848,051 (GRCm39) |
S229P |
not run |
Het |
| Opn1sw |
T |
A |
6: 29,380,168 (GRCm39) |
I83F |
probably benign |
Het |
| Or13p4 |
T |
C |
4: 118,547,425 (GRCm39) |
S75G |
probably damaging |
Het |
| Or5b95 |
A |
T |
19: 12,657,576 (GRCm39) |
I35F |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,822 (GRCm39) |
H252Y |
probably damaging |
Het |
| Pigg |
T |
G |
5: 108,484,162 (GRCm39) |
C603G |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
C |
A |
15: 44,391,133 (GRCm39) |
H1504N |
probably benign |
Het |
| Plcd4 |
A |
G |
1: 74,604,292 (GRCm39) |
N757D |
possibly damaging |
Het |
| Ppia |
A |
G |
11: 6,369,569 (GRCm39) |
T152A |
probably benign |
Het |
| Psmd8 |
G |
A |
7: 28,878,346 (GRCm39) |
|
probably null |
Het |
| Pxn |
T |
A |
5: 115,686,575 (GRCm39) |
Y356N |
probably benign |
Het |
| Rhoa |
G |
C |
9: 108,213,914 (GRCm39) |
C159S |
probably damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rita1 |
C |
T |
5: 120,749,506 (GRCm39) |
C69Y |
probably benign |
Het |
| Sectm1b |
A |
G |
11: 120,945,768 (GRCm39) |
I191T |
possibly damaging |
Het |
| Slc22a6 |
A |
G |
19: 8,599,260 (GRCm39) |
K297R |
possibly damaging |
Het |
| Snrnp48 |
T |
C |
13: 38,405,263 (GRCm39) |
Y287H |
probably benign |
Het |
| Sntg2 |
A |
T |
12: 30,276,910 (GRCm39) |
C381S |
probably benign |
Het |
| Syngap1 |
T |
A |
17: 27,178,938 (GRCm39) |
M649K |
probably damaging |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Thap2 |
T |
C |
10: 115,212,289 (GRCm39) |
I79V |
probably damaging |
Het |
| Thap7 |
T |
C |
16: 17,346,467 (GRCm39) |
N172S |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,844 (GRCm39) |
Y661C |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,606,659 (GRCm39) |
N18084D |
probably damaging |
Het |
| Usp48 |
A |
T |
4: 137,377,728 (GRCm39) |
K1020M |
probably damaging |
Het |
| Vmn2r12 |
T |
C |
5: 109,233,920 (GRCm39) |
N764S |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,540 (GRCm39) |
I736V |
possibly damaging |
Het |
| Wfdc6b |
T |
A |
2: 164,459,339 (GRCm39) |
C134S |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,946,003 (GRCm39) |
D481V |
probably damaging |
Het |
| Zfp949 |
G |
A |
9: 88,451,923 (GRCm39) |
G498R |
probably 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 |
|
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 |
|
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'- GACCAGGAAACGGAATGTCTAC -3'
(R):5'- TGAGAAGCTCTGAATCAATTTGGC -3'
Sequencing Primer
(F):5'- GGAAACGGAATGTCTACAACCTAC -3'
(R):5'- TTGGCTAATGAAAAATGACAGCCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation