Incidental Mutation 'R8467:Sp3'
| ID |
656869 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp3
|
| Ensembl Gene |
ENSMUSG00000027109 |
| Gene Name |
trans-acting transcription factor 3 |
| Synonyms |
D130027J01Rik |
| MMRRC Submission |
067911-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8467 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
72766774-72810790 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72801482 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 177
(T177I)
|
| 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: T177I
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: T177I
| 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 |
probably benign
Transcript: ENSMUST00000102689
AA Change: T221I
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: T221I
| 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
|
| Meta Mutation Damage Score |
0.0918 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apon |
G |
A |
10: 128,091,002 (GRCm39) |
V227I |
probably benign |
Het |
| Arl9 |
T |
C |
5: 77,154,446 (GRCm39) |
I58T |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,951,787 (GRCm39) |
T1326A |
possibly damaging |
Het |
| Cd55b |
A |
C |
1: 130,347,501 (GRCm39) |
S103R |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,791,321 (GRCm39) |
F1268L |
probably benign |
Het |
| D17H6S53E |
T |
A |
17: 35,346,246 (GRCm39) |
D52E |
probably damaging |
Het |
| Dhx57 |
G |
C |
17: 80,561,853 (GRCm39) |
P887R |
probably damaging |
Het |
| Ehd1 |
T |
G |
19: 6,331,318 (GRCm39) |
S159A |
probably benign |
Het |
| Fam98a |
C |
A |
17: 75,851,830 (GRCm39) |
G84W |
probably damaging |
Het |
| Fbxl22 |
C |
T |
9: 66,421,849 (GRCm39) |
|
probably null |
Het |
| Gbp11 |
T |
A |
5: 105,475,457 (GRCm39) |
Y297F |
probably damaging |
Het |
| Gimap8 |
A |
G |
6: 48,627,269 (GRCm39) |
H81R |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,596 (GRCm39) |
E680G |
possibly damaging |
Het |
| Grid2 |
A |
G |
6: 64,510,635 (GRCm39) |
D755G |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,952,238 (GRCm39) |
Y185H |
probably damaging |
Het |
| Hunk |
A |
G |
16: 90,293,508 (GRCm39) |
R597G |
probably damaging |
Het |
| Igfbp3 |
A |
G |
11: 7,163,523 (GRCm39) |
C90R |
probably damaging |
Het |
| Il7r |
T |
C |
15: 9,512,973 (GRCm39) |
T179A |
probably benign |
Het |
| Iqsec3 |
G |
A |
6: 121,358,676 (GRCm39) |
T1003I |
probably benign |
Het |
| Kif13b |
A |
T |
14: 64,996,154 (GRCm39) |
D980V |
probably damaging |
Het |
| Kif21b |
A |
G |
1: 136,100,021 (GRCm39) |
D1525G |
probably damaging |
Het |
| Lgsn |
A |
G |
1: 31,242,731 (GRCm39) |
E271G |
probably benign |
Het |
| Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
| Marchf10 |
A |
T |
11: 105,280,979 (GRCm39) |
Y435* |
probably null |
Het |
| Msantd5 |
A |
G |
11: 51,125,105 (GRCm39) |
I108V |
possibly damaging |
Het |
| Mup9 |
C |
T |
4: 60,376,481 (GRCm39) |
|
probably null |
Het |
| Myo6 |
T |
A |
9: 80,136,168 (GRCm39) |
V97E |
probably damaging |
Het |
| Nobox |
G |
T |
6: 43,282,479 (GRCm39) |
D309E |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,151,015 (GRCm39) |
D355G |
probably benign |
Het |
| Or6n1 |
A |
T |
1: 173,917,007 (GRCm39) |
T134S |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,062,993 (GRCm39) |
D744G |
probably benign |
Het |
| Phgdh |
A |
G |
3: 98,228,627 (GRCm39) |
V182A |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,375,731 (GRCm39) |
I231N |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,332,015 (GRCm39) |
L1276P |
probably damaging |
Het |
| Smarca2 |
T |
A |
19: 26,597,121 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r21 |
A |
T |
6: 57,821,441 (GRCm39) |
M1K |
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,644,790 (GRCm39) |
H1137Q |
probably 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 |
|
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 |
|
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 |
|
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'- GTCTGAGAACTTCCCGAGAGTC -3'
(R):5'- TTTTCAGTTGCACCAGGATCAG -3'
Sequencing Primer
(F):5'- GAGTCCCAAAGAATCTAGATCGAC -3'
(R):5'- GTTGCACCAGGATCAGATTCATC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation