Incidental Mutation 'R0789:Sp2'
| ID |
76405 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp2
|
| Ensembl Gene |
ENSMUSG00000018678 |
| Gene Name |
Sp2 transcription factor |
| Synonyms |
|
| MMRRC Submission |
038969-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0789 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96844167-96873785 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 96852202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 241
(S241T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062652]
[ENSMUST00000107623]
[ENSMUST00000107624]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062652
AA Change: S235T
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: S235T
| 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 benign
Transcript: ENSMUST00000107623
AA Change: S235T
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: S235T
| 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 benign
Transcript: ENSMUST00000107624
AA Change: S241T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: S241T
| 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 benign
Transcript: ENSMUST00000107626
AA Change: S241T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000103252
Gene: ENSMUSG00000018678
AA Change: S241T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
222 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
319 |
N/A |
INTRINSIC |
|
low complexity region
|
371 |
381 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
437 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
525 |
549 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
555 |
579 |
8.47e-4 |
SMART |
|
ZnF_C2H2
|
585 |
607 |
3.58e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000107628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186326
|
| Meta Mutation Damage Score |
0.0720 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 91.7%
|
| Validation Efficiency |
98% (45/46) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
T |
C |
5: 24,744,862 (GRCm39) |
T111A |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,005,283 (GRCm39) |
I526M |
possibly damaging |
Het |
| Cacnb4 |
C |
T |
2: 52,341,895 (GRCm39) |
V335I |
probably damaging |
Het |
| Ccdc33 |
C |
T |
9: 58,024,497 (GRCm39) |
|
probably benign |
Het |
| Cfap58 |
T |
G |
19: 47,943,748 (GRCm39) |
I316S |
probably benign |
Het |
| Chpf |
A |
T |
1: 75,452,407 (GRCm39) |
L349Q |
probably damaging |
Het |
| Cntnap1 |
A |
G |
11: 101,072,210 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,502,717 (GRCm39) |
P356S |
unknown |
Het |
| Dnah1 |
T |
C |
14: 31,026,548 (GRCm39) |
I777V |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,874,967 (GRCm39) |
V3966A |
probably damaging |
Het |
| Fbxo38 |
G |
A |
18: 62,648,570 (GRCm39) |
S656F |
possibly damaging |
Het |
| Fgf10 |
T |
A |
13: 118,925,741 (GRCm39) |
N173K |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,576,293 (GRCm39) |
E572K |
probably damaging |
Het |
| Gabra6 |
C |
A |
11: 42,205,844 (GRCm39) |
R336S |
probably benign |
Het |
| Glt8d2 |
T |
C |
10: 82,500,519 (GRCm39) |
N77S |
probably damaging |
Het |
| Grem1 |
C |
A |
2: 113,580,056 (GRCm39) |
K148N |
probably benign |
Het |
| Hat1 |
G |
A |
2: 71,252,088 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
T |
8: 111,293,603 (GRCm39) |
I3517F |
possibly damaging |
Het |
| Immt |
A |
G |
6: 71,838,051 (GRCm39) |
K253R |
probably damaging |
Het |
| Klk1b8 |
A |
C |
7: 43,595,151 (GRCm39) |
|
probably benign |
Het |
| Krt39 |
T |
C |
11: 99,411,888 (GRCm39) |
Y66C |
probably benign |
Het |
| Mrgprb1 |
T |
C |
7: 48,105,932 (GRCm39) |
|
probably benign |
Het |
| Nrp2 |
A |
G |
1: 62,784,609 (GRCm39) |
M253V |
probably benign |
Het |
| Omt2b |
G |
T |
9: 78,235,447 (GRCm39) |
|
probably benign |
Het |
| Or5as1 |
T |
C |
2: 86,980,171 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or7g32 |
C |
A |
9: 19,408,458 (GRCm39) |
P138H |
possibly damaging |
Het |
| Pcdh20 |
T |
C |
14: 88,706,226 (GRCm39) |
Y358C |
probably damaging |
Het |
| Pik3r4 |
T |
C |
9: 105,562,366 (GRCm39) |
M1215T |
probably benign |
Het |
| Polr1has |
T |
C |
17: 37,275,852 (GRCm39) |
Y145H |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 156,984,891 (GRCm39) |
E927G |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,611,318 (GRCm39) |
|
probably null |
Het |
| Scaf8 |
T |
C |
17: 3,247,112 (GRCm39) |
C812R |
possibly damaging |
Het |
| Scart2 |
G |
T |
7: 139,828,133 (GRCm39) |
G114W |
probably damaging |
Het |
| Smpd4 |
T |
C |
16: 17,443,690 (GRCm39) |
V78A |
probably benign |
Het |
| Tsga10 |
A |
T |
1: 37,840,868 (GRCm39) |
I446N |
possibly damaging |
Het |
| Ubr4 |
G |
A |
4: 139,137,582 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,683,082 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
A |
T |
14: 20,612,225 (GRCm39) |
S864T |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,466,762 (GRCm39) |
Y91H |
probably damaging |
Het |
| Vmn2r96 |
T |
C |
17: 18,802,738 (GRCm39) |
V216A |
possibly damaging |
Het |
| Wdr17 |
A |
T |
8: 55,112,607 (GRCm39) |
|
probably benign |
Het |
| Zmym6 |
A |
G |
4: 127,016,615 (GRCm39) |
T799A |
possibly 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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCTCAGTTTCAAAAGCAAGCC -3'
(R):5'- GCTCCTGTCCAGAAGTCAAGTACG -3'
Sequencing Primer
(F):5'- TGGACTTGCTGGACCACAG -3'
(R):5'- TGTCCAGAAGTCAAGTACGACTAC -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation