Incidental Mutation 'R2283:Sp3'
| ID |
243202 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp3
|
| Ensembl Gene |
ENSMUSG00000027109 |
| Gene Name |
trans-acting transcription factor 3 |
| Synonyms |
D130027J01Rik |
| MMRRC Submission |
040282-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2283 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
72766774-72810790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 72801521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 164
(I164S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065807
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066003]
[ENSMUST00000102689]
[ENSMUST00000112062]
|
| AlphaFold |
O70494 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000066003
AA Change: I164S
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: I164S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
188 |
201 |
N/A |
INTRINSIC |
|
low complexity region
|
231 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
425 |
448 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
579 |
603 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
609 |
633 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
639 |
661 |
5.99e-4 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102689
AA Change: I208S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: I208S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
232 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
275 |
285 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
446 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
492 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
623 |
647 |
1.86e0 |
SMART |
|
ZnF_C2H2
|
653 |
677 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
683 |
705 |
5.99e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112062
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141372
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene product belongs to a family of Sp1 related transcription factors, which regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses transcription of numerous genes. Alternative splicing results in transcript variants encoding different isoforms, and one variant initiates translation from a non-AUG (AUA) codon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit a reduced birth body size, skeletal, tooth and hematopoietic defects, and die shortly after birth due to respiratory failure. Homozygous mutant mice bearing a subtle point mutation in the SUMO attachment site show loss of DNAmethylation in sumoylation-deficient MEFs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
C |
10: 10,253,635 (GRCm39) |
E1235G |
probably damaging |
Het |
| Anapc1 |
A |
T |
2: 128,484,468 (GRCm39) |
H1165Q |
probably benign |
Het |
| Bhmt |
G |
A |
13: 93,756,809 (GRCm39) |
P273L |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,802,140 (GRCm39) |
V283A |
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,208,731 (GRCm39) |
P825L |
probably benign |
Het |
| Fas |
G |
A |
19: 34,284,649 (GRCm39) |
G52D |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,802,164 (GRCm39) |
I1209T |
probably benign |
Het |
| Gpt2 |
T |
A |
8: 86,242,818 (GRCm39) |
D283E |
probably benign |
Het |
| Hrh1 |
C |
T |
6: 114,457,400 (GRCm39) |
T227I |
probably benign |
Het |
| Kif26a |
T |
C |
12: 112,143,787 (GRCm39) |
F1347S |
possibly damaging |
Het |
| Krt1c |
T |
C |
15: 101,722,822 (GRCm39) |
Y392C |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,690,525 (GRCm39) |
K261E |
probably benign |
Het |
| Nav2 |
G |
T |
7: 49,141,152 (GRCm39) |
R899L |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,876,061 (GRCm39) |
V574A |
possibly damaging |
Het |
| Or2b6 |
G |
A |
13: 21,823,190 (GRCm39) |
R168C |
probably damaging |
Het |
| Pcsk4 |
T |
C |
10: 80,158,584 (GRCm39) |
E556G |
probably damaging |
Het |
| Ppa1 |
G |
A |
10: 61,496,788 (GRCm39) |
W92* |
probably null |
Het |
| Rsf1 |
G |
GACGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| St8sia3 |
G |
T |
18: 64,404,801 (GRCm39) |
E359D |
probably damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,859 (GRCm39) |
I355T |
possibly damaging |
Het |
| Zfp608 |
T |
A |
18: 55,121,446 (GRCm39) |
K47I |
probably damaging |
Het |
| Zfp931 |
A |
G |
2: 177,711,714 (GRCm39) |
V11A |
possibly damaging |
Het |
|
| Other mutations in Sp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Sp3
|
APN |
2 |
72,768,406 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02457:Sp3
|
APN |
2 |
72,801,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Sp3
|
UTSW |
2 |
72,801,845 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R0539:Sp3
|
UTSW |
2 |
72,800,876 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0685:Sp3
|
UTSW |
2 |
72,801,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1435:Sp3
|
UTSW |
2 |
72,768,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1731:Sp3
|
UTSW |
2 |
72,776,999 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1838:Sp3
|
UTSW |
2 |
72,768,520 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3892:Sp3
|
UTSW |
2 |
72,809,376 (GRCm39) |
intron |
probably benign |
|
|
R4508:Sp3
|
UTSW |
2 |
72,800,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4668:Sp3
|
UTSW |
2 |
72,801,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4896:Sp3
|
UTSW |
2 |
72,768,633 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5004:Sp3
|
UTSW |
2 |
72,768,633 (GRCm39) |
missense |
probably benign |
0.18 |
|
R5381:Sp3
|
UTSW |
2 |
72,800,910 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5493:Sp3
|
UTSW |
2 |
72,768,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5691:Sp3
|
UTSW |
2 |
72,801,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5755:Sp3
|
UTSW |
2 |
72,768,725 (GRCm39) |
splice site |
silent |
|
|
R6364:Sp3
|
UTSW |
2 |
72,801,285 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6640:Sp3
|
UTSW |
2 |
72,801,458 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7197:Sp3
|
UTSW |
2 |
72,809,953 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7699:Sp3
|
UTSW |
2 |
72,801,573 (GRCm39) |
missense |
probably benign |
|
|
R8004:Sp3
|
UTSW |
2 |
72,800,552 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8467:Sp3
|
UTSW |
2 |
72,801,482 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8503:Sp3
|
UTSW |
2 |
72,768,645 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8861:Sp3
|
UTSW |
2 |
72,801,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Sp3
|
UTSW |
2 |
72,800,511 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTAATATTTCCTGGCAGACC -3'
(R):5'- GTGCTGCTACTTCAAGTGGG -3'
Sequencing Primer
(F):5'- CAAGAGGCACATTAGCGACTACTTG -3'
(R):5'- CTACTTCAAGTGGGCAGTATGTCC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation