Incidental Mutation 'R5755:Sp3'
| ID |
501374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp3
|
| Ensembl Gene |
ENSMUSG00000027109 |
| Gene Name |
trans-acting transcription factor 3 |
| Synonyms |
D130027J01Rik |
| MMRRC Submission |
043202-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5755 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
72766774-72810790 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 72768725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066003]
[ENSMUST00000102689]
|
| AlphaFold |
O70494 |
| Predicted Effect |
silent
Transcript: ENSMUST00000066003
|
| SMART Domains |
Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
| 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 |
silent
Transcript: ENSMUST00000102689
|
| SMART Domains |
Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
| 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 |
noncoding transcript
Transcript: ENSMUST00000129565
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133615
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,617,428 (GRCm39) |
F1042I |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,979,096 (GRCm39) |
T127A |
probably benign |
Het |
| Aloxe3 |
A |
G |
11: 69,023,575 (GRCm39) |
I233V |
probably benign |
Het |
| Ambn |
T |
A |
5: 88,612,350 (GRCm39) |
|
probably null |
Het |
| Atp2b1 |
A |
G |
10: 98,839,032 (GRCm39) |
E39G |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,830,671 (GRCm39) |
|
probably null |
Het |
| Camsap2 |
C |
T |
1: 136,210,065 (GRCm39) |
G476R |
probably damaging |
Het |
| Cdk4 |
T |
A |
10: 126,900,591 (GRCm39) |
|
probably null |
Het |
| Dcaf12 |
T |
C |
4: 41,313,356 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,754,520 (GRCm39) |
S445T |
probably benign |
Het |
| Ehmt2 |
T |
C |
17: 35,127,214 (GRCm39) |
M109T |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,599,678 (GRCm39) |
E133G |
possibly damaging |
Het |
| F830016B08Rik |
T |
A |
18: 60,433,878 (GRCm39) |
F320L |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,657,773 (GRCm39) |
V801A |
possibly damaging |
Het |
| Gm57858 |
A |
T |
3: 36,071,842 (GRCm39) |
M501K |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,930,610 (GRCm39) |
N674Y |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,161 (GRCm39) |
E225G |
possibly damaging |
Het |
| Klhl11 |
T |
A |
11: 100,355,177 (GRCm39) |
M215L |
probably benign |
Het |
| Kmt2d |
G |
T |
15: 98,761,527 (GRCm39) |
P608T |
unknown |
Het |
| Map3k19 |
T |
C |
1: 127,750,118 (GRCm39) |
M1078V |
probably benign |
Het |
| Neto1 |
T |
C |
18: 86,517,219 (GRCm39) |
V512A |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,363,704 (GRCm39) |
D910G |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,557 (GRCm39) |
N84I |
probably benign |
Het |
| Or2w1 |
T |
A |
13: 21,317,695 (GRCm39) |
I250K |
probably damaging |
Het |
| Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
| Pi4kb |
A |
T |
3: 94,901,608 (GRCm39) |
|
probably null |
Het |
| Plag1 |
T |
C |
4: 3,904,492 (GRCm39) |
K233R |
possibly damaging |
Het |
| Polr1h |
T |
A |
17: 37,269,049 (GRCm39) |
D43V |
probably benign |
Het |
| Rasgrp3 |
A |
C |
17: 75,831,940 (GRCm39) |
D587A |
probably benign |
Het |
| Slc7a10 |
A |
T |
7: 34,898,336 (GRCm39) |
I336F |
probably damaging |
Het |
| Snx8 |
T |
G |
5: 140,338,796 (GRCm39) |
E254A |
possibly damaging |
Het |
| Sp8 |
G |
T |
12: 118,812,822 (GRCm39) |
A226S |
probably damaging |
Het |
| Spata31d1c |
C |
A |
13: 65,184,341 (GRCm39) |
Q628K |
probably benign |
Het |
| Styx |
C |
A |
14: 45,605,910 (GRCm39) |
T138K |
probably benign |
Het |
| Syngr3 |
A |
G |
17: 24,905,509 (GRCm39) |
F155S |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,187,406 (GRCm39) |
T3825A |
possibly damaging |
Het |
| Vmn2r113 |
A |
T |
17: 23,176,955 (GRCm39) |
T580S |
probably benign |
Het |
| Zbtb11 |
T |
A |
16: 55,821,076 (GRCm39) |
S724R |
probably benign |
Het |
| Zcchc4 |
T |
C |
5: 52,973,511 (GRCm39) |
S379P |
probably benign |
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 |
|
R2283:Sp3
|
UTSW |
2 |
72,801,521 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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'- TGTTCCTCCTGCAGTAATCAAG -3'
(R):5'- AGGTTTCAGTTCAGAGTCTTAGC -3'
Sequencing Primer
(F):5'- GCAGTAATCAAGGCATCATCTCTTC -3'
(R):5'- TCAGTTCAGAGTCTTAGCATTGAG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation