Incidental Mutation 'R1820:Sp1'
| ID |
204814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp1
|
| Ensembl Gene |
ENSMUSG00000001280 |
| Gene Name |
trans-acting transcription factor 1 |
| Synonyms |
Sp1-1, 1110003E12Rik |
| MMRRC Submission |
039848-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1820 (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 102317511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 343
(S343R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000001326
AA Change: S343R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: S343R
| 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 |
possibly damaging
Transcript: ENSMUST00000165924
AA Change: S343R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: S343R
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
| 9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
| Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
| Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
| Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
| Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
| Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
| Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,944,913 (GRCm39) |
G211C |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
| Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,973,153 (GRCm39) |
L114* |
probably null |
Het |
| Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
| Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
| Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
| Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
| Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
| Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
| Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,570,958 (GRCm39) |
T514A |
probably benign |
Het |
| Psmd5 |
T |
C |
2: 34,760,758 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
| Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
| Rnf157 |
G |
T |
11: 116,245,477 (GRCm39) |
P313T |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,996,990 (GRCm39) |
M268K |
possibly damaging |
Het |
| Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
| Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,849,069 (GRCm39) |
C1020S |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
| St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
| Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTATCAGCAGCTCTGGATCC -3'
(R):5'- GACAATGGTGCTGCTTGAAGG -3'
Sequencing Primer
(F):5'- ATCCCAGGAGAGCAGCTC -3'
(R):5'- GAAGAGCTTGTCCTCCTTGAACTAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation