Incidental Mutation 'IGL01333:Sp1'
| ID |
74554 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sp1
|
| Ensembl Gene |
ENSMUSG00000001280 |
| Gene Name |
trans-acting transcription factor 1 |
| Synonyms |
Sp1-1, 1110003E12Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01333
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
102314751-102344839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102339364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 434
(E434G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130747
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001326]
[ENSMUST00000163709]
[ENSMUST00000165924]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001326
AA Change: E748G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: E748G
| 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 damaging
Transcript: ENSMUST00000163709
AA Change: E434G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
AA Change: E434G
| 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 damaging
Transcript: ENSMUST00000165924
AA Change: E748G
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: E748G
| 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 |
noncoding transcript
Transcript: ENSMUST00000170042
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
G |
T |
7: 119,981,531 (GRCm39) |
C995F |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,069,032 (GRCm39) |
G525C |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,431 (GRCm39) |
E110G |
probably damaging |
Het |
| Ankrd7 |
A |
G |
6: 18,879,345 (GRCm39) |
H263R |
probably damaging |
Het |
| Cav3 |
T |
C |
6: 112,436,888 (GRCm39) |
|
probably null |
Het |
| Ccdc66 |
T |
C |
14: 27,215,272 (GRCm39) |
R423G |
possibly damaging |
Het |
| Cep76 |
C |
T |
18: 67,773,187 (GRCm39) |
R37Q |
probably benign |
Het |
| Chfr |
A |
G |
5: 110,291,439 (GRCm39) |
K86E |
possibly damaging |
Het |
| Eif2b3 |
T |
A |
4: 116,927,887 (GRCm39) |
S369T |
probably benign |
Het |
| Hgf |
A |
T |
5: 16,781,939 (GRCm39) |
R221* |
probably null |
Het |
| Hspg2 |
T |
C |
4: 137,267,625 (GRCm39) |
Y2078H |
probably damaging |
Het |
| Kif22 |
A |
C |
7: 126,633,367 (GRCm39) |
V55G |
probably damaging |
Het |
| Mme |
T |
C |
3: 63,253,512 (GRCm39) |
I452T |
probably damaging |
Het |
| Mrpl41 |
T |
C |
2: 24,864,453 (GRCm39) |
N73S |
probably benign |
Het |
| Mup6 |
T |
C |
4: 60,005,529 (GRCm39) |
F112S |
probably damaging |
Het |
| Nktr |
A |
G |
9: 121,560,630 (GRCm39) |
I125V |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,217,998 (GRCm39) |
F1784L |
probably benign |
Het |
| Nwd1 |
A |
G |
8: 73,393,439 (GRCm39) |
D275G |
possibly damaging |
Het |
| Or4d11 |
G |
A |
19: 12,013,305 (GRCm39) |
T267I |
probably benign |
Het |
| Or5h19 |
T |
C |
16: 58,856,269 (GRCm39) |
Y277C |
probably damaging |
Het |
| Pde6c |
G |
A |
19: 38,164,143 (GRCm39) |
E666K |
probably benign |
Het |
| Pth2r |
A |
T |
1: 65,427,884 (GRCm39) |
D519V |
probably benign |
Het |
| Reln |
A |
T |
5: 22,376,249 (GRCm39) |
I169N |
probably damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,870 (GRCm39) |
N1250D |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,042,739 (GRCm39) |
|
probably null |
Het |
| Smg1 |
A |
G |
7: 117,762,601 (GRCm39) |
|
probably benign |
Het |
| Stt3b |
A |
T |
9: 115,086,612 (GRCm39) |
Y336N |
probably damaging |
Het |
| Vmn2r104 |
T |
A |
17: 20,263,055 (GRCm39) |
R135S |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,464,387 (GRCm39) |
T1515I |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,242,396 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R5559:Sp1
|
UTSW |
15 |
102,317,365 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation