Incidental Mutation 'R4508:Sp1'
| ID |
331092 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp1
|
| Ensembl Gene |
ENSMUSG00000001280 |
| Gene Name |
trans-acting transcription factor 1 |
| Synonyms |
Sp1-1, 1110003E12Rik |
| MMRRC Submission |
041757-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4508 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102314751-102344839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 102317747 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Proline
at position 422
(Q422P)
|
| 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: Q422P
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: Q422P
| 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 |
unknown
Transcript: ENSMUST00000163709
AA Change: Q108P
|
| SMART Domains |
Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280
AA Change: Q108P
| 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: Q422P
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000132401
Gene: ENSMUSG00000001280
AA Change: Q422P
| 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 |
|
| Meta Mutation Damage Score |
0.1335 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
100% (50/50) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12 |
A |
G |
2: 150,746,275 (GRCm39) |
|
probably benign |
Het |
| Amer3 |
A |
G |
1: 34,627,380 (GRCm39) |
R540G |
probably benign |
Het |
| Ank |
C |
T |
15: 27,565,063 (GRCm39) |
R255W |
probably damaging |
Het |
| Ank3 |
A |
C |
10: 69,728,200 (GRCm39) |
I629L |
probably damaging |
Het |
| Arhgap11a |
T |
A |
2: 113,672,387 (GRCm39) |
N194Y |
probably damaging |
Het |
| BB014433 |
T |
C |
8: 15,092,095 (GRCm39) |
T253A |
possibly damaging |
Het |
| Ccdc40 |
C |
A |
11: 119,133,335 (GRCm39) |
D534E |
probably damaging |
Het |
| Chrna2 |
C |
A |
14: 66,383,902 (GRCm39) |
N106K |
probably damaging |
Het |
| Clec2f |
C |
A |
6: 128,997,474 (GRCm39) |
|
noncoding transcript |
Het |
| Cnnm2 |
G |
A |
19: 46,865,709 (GRCm39) |
D766N |
probably benign |
Het |
| Ctc1 |
A |
G |
11: 68,906,943 (GRCm39) |
|
probably null |
Het |
| Ddc |
C |
T |
11: 11,769,393 (GRCm39) |
|
probably null |
Het |
| Doc2g |
G |
A |
19: 4,054,036 (GRCm39) |
|
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,851,481 (GRCm39) |
T1334A |
unknown |
Het |
| Epdr1 |
T |
C |
13: 19,778,659 (GRCm39) |
I44V |
probably benign |
Het |
| Fbp2 |
A |
T |
13: 62,989,679 (GRCm39) |
I209N |
probably damaging |
Het |
| Garin1b |
T |
C |
6: 29,323,764 (GRCm39) |
V163A |
probably benign |
Het |
| Get1 |
T |
A |
16: 95,946,899 (GRCm39) |
|
probably benign |
Het |
| Gldc |
G |
T |
19: 30,120,807 (GRCm39) |
Q375K |
probably damaging |
Het |
| Hc |
A |
C |
2: 34,903,077 (GRCm39) |
V1058G |
possibly damaging |
Het |
| Hydin |
T |
A |
8: 111,245,886 (GRCm39) |
S2200T |
possibly damaging |
Het |
| Kcnc1 |
C |
T |
7: 46,077,712 (GRCm39) |
P505S |
probably benign |
Het |
| Kifc3 |
T |
C |
8: 95,834,048 (GRCm39) |
|
probably null |
Het |
| Klhl10 |
A |
G |
11: 100,333,002 (GRCm39) |
E49G |
possibly damaging |
Het |
| Lhx5 |
T |
C |
5: 120,573,499 (GRCm39) |
S161P |
probably damaging |
Het |
| Lilra6 |
G |
T |
7: 3,915,028 (GRCm39) |
Y455* |
probably null |
Het |
| Lzts1 |
C |
T |
8: 69,588,270 (GRCm39) |
R562H |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,226,356 (GRCm39) |
|
probably benign |
Het |
| Ogfod2 |
C |
T |
5: 124,251,317 (GRCm39) |
Q74* |
probably null |
Het |
| Or4f56 |
A |
C |
2: 111,703,947 (GRCm39) |
D84E |
probably damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,138 (GRCm39) |
V30E |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,633,385 (GRCm39) |
|
probably null |
Het |
| Ptpre |
T |
C |
7: 135,270,832 (GRCm39) |
L329P |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,744,456 (GRCm39) |
Q73R |
possibly damaging |
Het |
| Scly |
G |
A |
1: 91,236,047 (GRCm39) |
V100I |
possibly damaging |
Het |
| Sos2 |
A |
T |
12: 69,682,435 (GRCm39) |
L261* |
probably null |
Het |
| Sp3 |
A |
T |
2: 72,800,741 (GRCm39) |
F468Y |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,172 (GRCm39) |
Y2662C |
possibly damaging |
Het |
| Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
| Tmprss2 |
C |
A |
16: 97,371,627 (GRCm39) |
G281C |
probably damaging |
Het |
| Tmprss6 |
A |
T |
15: 78,343,978 (GRCm39) |
Y183N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,580,684 (GRCm39) |
L23403Q |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r90 |
T |
C |
7: 14,296,084 (GRCm39) |
N5D |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,709,819 (GRCm39) |
D1922G |
possibly 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 |
|
|
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'- GTGGGCTACAAGGGTCTGATTC -3'
(R):5'- CTAGTCTGCCCCAAGGAAAC -3'
Sequencing Primer
(F):5'- GCTACAAGGGTCTGATTCTCTGAAC -3'
(R):5'- CATAGGGGCCAAGGTGATTGTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation