Incidental Mutation 'IGL00164:Sp2'
| ID |
277495 |
| 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 # |
IGL00164
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
| Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
| Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
| Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
| Gpd1 |
C |
A |
15: 99,618,532 (GRCm39) |
D172E |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
| Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
| Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
| Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
| Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
| Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
| Other mutations in Sp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL00470: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 |
2015-04-16 |
Incidental Mutation