Incidental Mutation 'R5559:Sp1'
| ID |
436473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp1
|
| Ensembl Gene |
ENSMUSG00000001280 |
| Gene Name |
trans-acting transcription factor 1 |
| Synonyms |
Sp1-1, 1110003E12Rik |
| MMRRC Submission |
043116-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5559 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
102314751-102344839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102317365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 295
(S295T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001326]
[ENSMUST00000163709]
[ENSMUST00000165837]
[ENSMUST00000165924]
[ENSMUST00000168802]
[ENSMUST00000169619]
[ENSMUST00000170884]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001326
AA Change: S295T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: S295T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
624 |
648 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
654 |
678 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
684 |
706 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163709
|
| SMART Domains |
Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
108 |
N/A |
INTRINSIC |
|
low complexity region
|
150 |
166 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
310 |
334 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
340 |
364 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
370 |
392 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165837
|
| SMART Domains |
Protein: ENSMUSP00000126143
Gene: ENSMUSG00000001280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165924
AA Change: S295T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: S295T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
62 |
N/A |
INTRINSIC |
|
low complexity region
|
74 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
300 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
464 |
480 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
624 |
648 |
4.34e0 |
SMART |
|
ZnF_C2H2
|
654 |
678 |
1.98e-4 |
SMART |
|
ZnF_C2H2
|
684 |
706 |
1.12e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168802
|
| SMART Domains |
Protein: ENSMUSP00000127445
Gene: ENSMUSG00000001280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
83 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169619
|
| SMART Domains |
Protein: ENSMUSP00000127714
Gene: ENSMUSG00000001280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170884
|
| SMART Domains |
Protein: ENSMUSP00000129638
Gene: ENSMUSG00000001280
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
55 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice display reduced embryo size and die during organogenesis with a broad range of developmental defects. Heterozygous null mice are viable but slightly growth retarded, may lack one or both eyes, and show a decreased erythroid progenitor cell number in fetal liver cultures. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310034C09Rik |
G |
T |
16: 88,555,981 (GRCm39) |
R65L |
unknown |
Het |
| Abcc5 |
A |
T |
16: 20,157,636 (GRCm39) |
M1307K |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,522,354 (GRCm39) |
C129* |
probably null |
Het |
| Brd10 |
A |
C |
19: 29,694,363 (GRCm39) |
F1710C |
possibly damaging |
Het |
| Brox |
A |
T |
1: 183,073,552 (GRCm39) |
S39R |
possibly damaging |
Het |
| Ccdc168 |
C |
G |
1: 44,097,675 (GRCm39) |
R1141T |
possibly damaging |
Het |
| Cd109 |
T |
C |
9: 78,568,250 (GRCm39) |
V310A |
probably benign |
Het |
| Chd9 |
G |
A |
8: 91,742,553 (GRCm39) |
|
probably null |
Het |
| Chmp2b |
A |
T |
16: 65,337,316 (GRCm39) |
I170N |
probably damaging |
Het |
| Cnp |
G |
T |
11: 100,467,243 (GRCm39) |
G62V |
probably damaging |
Het |
| Dcp2 |
C |
A |
18: 44,538,554 (GRCm39) |
P206T |
probably damaging |
Het |
| Dhx57 |
A |
T |
17: 80,561,808 (GRCm39) |
V902E |
possibly damaging |
Het |
| Dmwd |
G |
A |
7: 18,814,363 (GRCm39) |
V338M |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,139 (GRCm39) |
D258G |
probably benign |
Het |
| Flvcr2 |
T |
A |
12: 85,851,181 (GRCm39) |
F448L |
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,449 (GRCm39) |
V421A |
probably damaging |
Het |
| Gchfr |
C |
T |
2: 119,000,187 (GRCm39) |
H23Y |
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,871,919 (GRCm39) |
M2617L |
probably damaging |
Het |
| Ighv5-9-1 |
A |
T |
12: 113,699,745 (GRCm39) |
Y122* |
probably null |
Het |
| Lrrtm3 |
A |
G |
10: 63,766,045 (GRCm39) |
I514T |
probably benign |
Het |
| Nolc1 |
GAGCAGCAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGCAGCAGC |
19: 46,071,594 (GRCm39) |
|
probably benign |
Het |
| Obox5 |
A |
T |
7: 15,491,522 (GRCm39) |
I21F |
probably benign |
Het |
| Or51f1 |
C |
T |
7: 102,506,414 (GRCm39) |
G25D |
possibly damaging |
Het |
| P2rx2 |
T |
C |
5: 110,488,427 (GRCm39) |
I376V |
possibly damaging |
Het |
| Poli |
A |
G |
18: 70,642,356 (GRCm39) |
S529P |
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,450,078 (GRCm39) |
I83T |
possibly damaging |
Het |
| Rwdd2a |
T |
C |
9: 86,456,483 (GRCm39) |
S220P |
probably damaging |
Het |
| Serpinb9h |
T |
A |
13: 33,588,301 (GRCm39) |
D295E |
probably benign |
Het |
| Sf3b3 |
A |
T |
8: 111,564,847 (GRCm39) |
D320E |
probably benign |
Het |
| Slc6a21 |
C |
A |
7: 44,937,853 (GRCm39) |
L390I |
possibly damaging |
Het |
| Smarcd1 |
T |
G |
15: 99,601,176 (GRCm39) |
|
probably null |
Het |
| Tas2r104 |
T |
A |
6: 131,662,094 (GRCm39) |
H205L |
probably damaging |
Het |
| Tmem69 |
C |
G |
4: 116,410,388 (GRCm39) |
G194A |
probably damaging |
Het |
| Unc5c |
G |
T |
3: 141,509,548 (GRCm39) |
C676F |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,424,687 (GRCm39) |
N52S |
probably benign |
Het |
| Vmn1r233 |
T |
C |
17: 21,214,839 (GRCm39) |
Y37C |
possibly damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,898 (GRCm39) |
N141S |
probably damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,771,253 (GRCm39) |
Y816C |
probably damaging |
Het |
| Vmn2r51 |
T |
A |
7: 9,826,128 (GRCm39) |
S540C |
probably damaging |
Het |
|
| Other mutations in Sp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01333:Sp1
|
APN |
15 |
102,339,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4812001:Sp1
|
UTSW |
15 |
102,316,843 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0758:Sp1
|
UTSW |
15 |
102,314,805 (GRCm39) |
splice site |
probably null |
|
|
R1509:Sp1
|
UTSW |
15 |
102,316,314 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1611:Sp1
|
UTSW |
15 |
102,339,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1820:Sp1
|
UTSW |
15 |
102,317,511 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1824:Sp1
|
UTSW |
15 |
102,339,438 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2107:Sp1
|
UTSW |
15 |
102,318,113 (GRCm39) |
splice site |
probably null |
|
|
R4508:Sp1
|
UTSW |
15 |
102,317,747 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4857:Sp1
|
UTSW |
15 |
102,339,409 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5512:Sp1
|
UTSW |
15 |
102,339,445 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5833:Sp1
|
UTSW |
15 |
102,339,352 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6377:Sp1
|
UTSW |
15 |
102,339,318 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8059:Sp1
|
UTSW |
15 |
102,316,337 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8434:Sp1
|
UTSW |
15 |
102,318,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8537:Sp1
|
UTSW |
15 |
102,316,964 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9038:Sp1
|
UTSW |
15 |
102,316,320 (GRCm39) |
missense |
probably benign |
0.18 |
|
X0050:Sp1
|
UTSW |
15 |
102,317,846 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTACTCCAGCAGGCTGTC -3'
(R):5'- GAATCAGACCCTTGTAGCCC -3'
Sequencing Primer
(F):5'- AGGCTGTCCCCCTTCAAG -3'
(R):5'- TGTAGCCCACCAACCCTCTG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation