Incidental Mutation 'IGL00470:Sp2'
ID |
332172 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sp2
|
Ensembl Gene |
ENSMUSG00000018678 |
Gene Name |
Sp2 transcription factor |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00470
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96844167-96873785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 96845387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 578
(R578H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103249
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062652]
[ENSMUST00000107623]
[ENSMUST00000107624]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062652
AA Change: R578H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000051403 Gene: ENSMUSG00000018678 AA Change: R578H
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
low complexity region
|
203 |
216 |
N/A |
INTRINSIC |
low complexity region
|
281 |
313 |
N/A |
INTRINSIC |
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
ZnF_C2H2
|
519 |
543 |
5.14e-3 |
SMART |
ZnF_C2H2
|
549 |
573 |
8.47e-4 |
SMART |
ZnF_C2H2
|
579 |
601 |
3.58e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107623
AA Change: R578H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000103249 Gene: ENSMUSG00000018678 AA Change: R578H
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
low complexity region
|
203 |
216 |
N/A |
INTRINSIC |
low complexity region
|
281 |
313 |
N/A |
INTRINSIC |
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
ZnF_C2H2
|
519 |
543 |
5.14e-3 |
SMART |
ZnF_C2H2
|
549 |
573 |
8.47e-4 |
SMART |
ZnF_C2H2
|
579 |
601 |
3.58e-2 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107624
AA Change: R584H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103250 Gene: ENSMUSG00000018678 AA Change: R584H
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
59 |
N/A |
INTRINSIC |
low complexity region
|
203 |
216 |
N/A |
INTRINSIC |
low complexity region
|
281 |
313 |
N/A |
INTRINSIC |
low complexity region
|
365 |
375 |
N/A |
INTRINSIC |
low complexity region
|
420 |
431 |
N/A |
INTRINSIC |
ZnF_C2H2
|
519 |
543 |
5.14e-3 |
SMART |
ZnF_C2H2
|
549 |
573 |
8.47e-4 |
SMART |
ZnF_C2H2
|
579 |
601 |
3.58e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107628
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131501
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135825
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186326
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domain and three carboxy-terminal zinc finger motifs. This protein contains the least conserved DNA-binding domain within the Sp subfamily of proteins, and its DNA sequence specificity differs from the other Sp proteins. The protein can act as a transcriptional activator or repressor, depending on the promoter and cell type. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] PHENOTYPE: No homozygous null mice survived beyond E10.5, with decrease embryo size and embryonic growth retardation starting at E7.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4732463B04Rik |
G |
T |
12: 84,090,578 (GRCm39) |
|
probably benign |
Het |
Abcd1 |
T |
C |
X: 72,761,154 (GRCm39) |
L173P |
probably damaging |
Het |
Adam18 |
T |
A |
8: 25,118,149 (GRCm39) |
D41V |
probably damaging |
Het |
Armh4 |
A |
T |
14: 50,010,460 (GRCm39) |
S416T |
probably damaging |
Het |
Aspa |
T |
G |
11: 73,204,447 (GRCm39) |
|
probably benign |
Het |
Cacna2d1 |
T |
A |
5: 16,451,654 (GRCm39) |
|
probably benign |
Het |
Cracd |
G |
A |
5: 77,013,903 (GRCm39) |
|
probably benign |
Het |
Cubn |
T |
A |
2: 13,283,229 (GRCm39) |
I3570L |
probably benign |
Het |
Cyp2j13 |
G |
A |
4: 95,950,275 (GRCm39) |
P242L |
probably damaging |
Het |
Cysrt1 |
T |
C |
2: 25,129,513 (GRCm39) |
|
probably benign |
Het |
Dchs1 |
A |
T |
7: 105,407,414 (GRCm39) |
L2100H |
probably damaging |
Het |
Ddb1 |
G |
A |
19: 10,589,028 (GRCm39) |
A229T |
possibly damaging |
Het |
Dst |
A |
T |
1: 34,228,043 (GRCm39) |
I1554F |
probably damaging |
Het |
Dvl3 |
C |
T |
16: 20,349,689 (GRCm39) |
P554L |
probably damaging |
Het |
Fcgbp |
C |
A |
7: 27,774,511 (GRCm39) |
C28* |
probably null |
Het |
Gm773 |
T |
C |
X: 55,247,373 (GRCm39) |
D53G |
probably benign |
Het |
Hhat |
A |
G |
1: 192,399,325 (GRCm39) |
Y272H |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,536,351 (GRCm39) |
S310P |
probably benign |
Het |
Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
Kcnh5 |
T |
C |
12: 74,944,570 (GRCm39) |
D893G |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,119,738 (GRCm39) |
T709A |
probably benign |
Het |
Mcm8 |
G |
A |
2: 132,669,457 (GRCm39) |
V281I |
probably benign |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Nup133 |
T |
G |
8: 124,665,822 (GRCm39) |
D201A |
probably damaging |
Het |
Oxct2a |
A |
G |
4: 123,217,183 (GRCm39) |
L66P |
possibly damaging |
Het |
Pcbp2 |
C |
T |
15: 102,399,148 (GRCm39) |
A224V |
probably damaging |
Het |
Phf8-ps |
T |
A |
17: 33,284,837 (GRCm39) |
H655L |
probably benign |
Het |
Pla2g4e |
G |
A |
2: 120,015,719 (GRCm39) |
S275F |
probably benign |
Het |
Pxk |
T |
C |
14: 8,130,754 (GRCm38) |
F118L |
probably damaging |
Het |
Sphkap |
A |
G |
1: 83,255,631 (GRCm39) |
M706T |
possibly damaging |
Het |
Tars3 |
T |
C |
7: 65,338,656 (GRCm39) |
M689T |
probably benign |
Het |
Trrap |
T |
C |
5: 144,754,848 (GRCm39) |
V2008A |
probably damaging |
Het |
Txndc2 |
A |
T |
17: 65,945,569 (GRCm39) |
S203T |
probably benign |
Het |
Txnrd1 |
T |
G |
10: 82,711,496 (GRCm39) |
D42E |
probably damaging |
Het |
Zswim8 |
G |
A |
14: 20,773,249 (GRCm39) |
D1746N |
probably damaging |
Het |
|
Other mutations in Sp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00164:Sp2
|
APN |
11 |
96,845,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00228:Sp2
|
APN |
11 |
96,845,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00467:Sp2
|
APN |
11 |
96,845,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00476:Sp2
|
APN |
11 |
96,845,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00505:Sp2
|
APN |
11 |
96,845,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00535:Sp2
|
APN |
11 |
96,845,387 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01865:Sp2
|
APN |
11 |
96,851,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02170:Sp2
|
APN |
11 |
96,847,036 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03342:Sp2
|
APN |
11 |
96,852,588 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4696001:Sp2
|
UTSW |
11 |
96,852,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R0082:Sp2
|
UTSW |
11 |
96,852,525 (GRCm39) |
missense |
probably damaging |
1.00 |
R0086:Sp2
|
UTSW |
11 |
96,848,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R0525:Sp2
|
UTSW |
11 |
96,846,924 (GRCm39) |
critical splice donor site |
probably benign |
|
R0789:Sp2
|
UTSW |
11 |
96,852,202 (GRCm39) |
missense |
probably benign |
0.18 |
R1463:Sp2
|
UTSW |
11 |
96,854,282 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R1941:Sp2
|
UTSW |
11 |
96,846,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2049:Sp2
|
UTSW |
11 |
96,852,191 (GRCm39) |
missense |
probably benign |
0.09 |
R2153:Sp2
|
UTSW |
11 |
96,852,834 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2230:Sp2
|
UTSW |
11 |
96,846,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2232:Sp2
|
UTSW |
11 |
96,846,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Sp2
|
UTSW |
11 |
96,846,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2238:Sp2
|
UTSW |
11 |
96,846,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R2247:Sp2
|
UTSW |
11 |
96,852,844 (GRCm39) |
splice site |
probably null |
|
R4638:Sp2
|
UTSW |
11 |
96,848,300 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5016:Sp2
|
UTSW |
11 |
96,846,658 (GRCm39) |
missense |
probably damaging |
0.96 |
R5099:Sp2
|
UTSW |
11 |
96,852,175 (GRCm39) |
missense |
probably damaging |
0.99 |
R5125:Sp2
|
UTSW |
11 |
96,846,664 (GRCm39) |
missense |
probably benign |
0.00 |
R5178:Sp2
|
UTSW |
11 |
96,846,664 (GRCm39) |
missense |
probably benign |
0.00 |
R5828:Sp2
|
UTSW |
11 |
96,851,811 (GRCm39) |
intron |
probably benign |
|
R6286:Sp2
|
UTSW |
11 |
96,852,372 (GRCm39) |
missense |
probably benign |
0.01 |
R6997:Sp2
|
UTSW |
11 |
96,848,552 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7743:Sp2
|
UTSW |
11 |
96,851,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R7999:Sp2
|
UTSW |
11 |
96,852,663 (GRCm39) |
missense |
probably damaging |
1.00 |
R8461:Sp2
|
UTSW |
11 |
96,846,739 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8729:Sp2
|
UTSW |
11 |
96,852,099 (GRCm39) |
missense |
possibly damaging |
0.82 |
R9355:Sp2
|
UTSW |
11 |
96,852,231 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2015-08-05 |