Incidental Mutation 'R1941:Sp2'
ID |
214026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp2
|
Ensembl Gene |
ENSMUSG00000018678 |
Gene Name |
Sp2 transcription factor |
Synonyms |
|
MMRRC Submission |
039959-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1941 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
96844167-96873785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 96846762 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 527
(C527Y)
|
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 damaging
Transcript: ENSMUST00000062652
AA Change: C521Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000051403 Gene: ENSMUSG00000018678 AA Change: C521Y
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: C521Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103249 Gene: ENSMUSG00000018678 AA Change: C521Y
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: C527Y
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000103250 Gene: ENSMUSG00000018678 AA Change: C527Y
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: ENSMUST00000107626
AA Change: C527Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000103252 Gene: ENSMUSG00000018678 AA Change: C527Y
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: ENSMUST00000131501
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135825
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186326
|
Meta Mutation Damage Score |
0.9615 |
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.6%
- 10x: 94.8%
- 20x: 91.1%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Art2b |
A |
C |
7: 101,229,524 (GRCm39) |
F125C |
probably damaging |
Het |
Camta1 |
T |
C |
4: 151,159,612 (GRCm39) |
Y1616C |
probably damaging |
Het |
Cep162 |
T |
G |
9: 87,082,048 (GRCm39) |
I1286L |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,703,697 (GRCm39) |
|
probably null |
Het |
Col11a2 |
T |
A |
17: 34,263,925 (GRCm39) |
S247T |
probably benign |
Het |
Col6a4 |
T |
G |
9: 105,952,209 (GRCm39) |
D563A |
probably benign |
Het |
Crebbp |
C |
T |
16: 3,997,555 (GRCm39) |
M176I |
probably benign |
Het |
Cyp4a12b |
A |
G |
4: 115,295,256 (GRCm39) |
N454S |
probably damaging |
Het |
Dhx8 |
T |
C |
11: 101,643,024 (GRCm39) |
|
probably null |
Het |
Dock7 |
G |
A |
4: 98,872,952 (GRCm39) |
L1165F |
probably benign |
Het |
Fam117a |
A |
T |
11: 95,271,624 (GRCm39) |
N399Y |
probably damaging |
Het |
Fmn1 |
A |
G |
2: 113,195,488 (GRCm39) |
K396R |
unknown |
Het |
Foxk1 |
T |
A |
5: 142,442,429 (GRCm39) |
V693E |
possibly damaging |
Het |
Gml |
A |
G |
15: 74,689,020 (GRCm39) |
L10P |
probably damaging |
Het |
Gpx8 |
A |
G |
13: 113,182,809 (GRCm39) |
L34P |
probably damaging |
Het |
Kank2 |
A |
G |
9: 21,684,162 (GRCm39) |
L689P |
possibly damaging |
Het |
Mt4 |
G |
A |
8: 94,864,874 (GRCm39) |
C16Y |
possibly damaging |
Het |
Naa15 |
C |
A |
3: 51,363,355 (GRCm39) |
Y346* |
probably null |
Het |
Ntrk3 |
C |
T |
7: 77,897,010 (GRCm39) |
V676I |
probably damaging |
Het |
Oasl2 |
G |
A |
5: 115,049,423 (GRCm39) |
|
probably benign |
Het |
Or1e1c |
T |
A |
11: 73,266,447 (GRCm39) |
F294I |
probably damaging |
Het |
Or6c215 |
T |
A |
10: 129,638,281 (GRCm39) |
M38L |
probably benign |
Het |
Or6c8 |
T |
G |
10: 128,915,823 (GRCm39) |
N3T |
probably damaging |
Het |
Or7e169 |
G |
A |
9: 19,757,246 (GRCm39) |
S223F |
probably damaging |
Het |
Or7g20 |
A |
C |
9: 18,947,162 (GRCm39) |
T248P |
possibly damaging |
Het |
Otud7a |
C |
T |
7: 63,379,574 (GRCm39) |
R273* |
probably null |
Het |
Pcare |
T |
G |
17: 72,059,063 (GRCm39) |
T205P |
probably damaging |
Het |
Pde11a |
C |
T |
2: 76,121,594 (GRCm39) |
R329Q |
probably benign |
Het |
Pga5 |
G |
T |
19: 10,646,820 (GRCm39) |
|
probably null |
Het |
Ppp1r1a |
A |
G |
15: 103,441,528 (GRCm39) |
|
probably null |
Het |
Pus10 |
A |
G |
11: 23,661,198 (GRCm39) |
Q262R |
possibly damaging |
Het |
Rbm17 |
T |
C |
2: 11,593,885 (GRCm39) |
K241R |
possibly damaging |
Het |
Rp1l1 |
T |
G |
14: 64,259,701 (GRCm39) |
D114E |
probably damaging |
Het |
Safb |
T |
A |
17: 56,905,992 (GRCm39) |
|
probably benign |
Het |
Sgpl1 |
T |
C |
10: 60,939,086 (GRCm39) |
Y371C |
probably damaging |
Het |
Siglec1 |
C |
A |
2: 130,920,051 (GRCm39) |
A827S |
possibly damaging |
Het |
Smg5 |
T |
A |
3: 88,252,687 (GRCm39) |
S158T |
possibly damaging |
Het |
Spaca6 |
A |
G |
17: 18,058,664 (GRCm39) |
I71V |
probably benign |
Het |
Spaca6 |
A |
G |
17: 18,058,692 (GRCm39) |
E80G |
probably damaging |
Het |
Steap1 |
C |
A |
5: 5,790,541 (GRCm39) |
A136S |
probably damaging |
Het |
Supv3l1 |
G |
C |
10: 62,285,391 (GRCm39) |
P25R |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,268,458 (GRCm39) |
K108R |
possibly damaging |
Het |
Tnc |
A |
G |
4: 63,933,201 (GRCm39) |
Y688H |
probably damaging |
Het |
Tnr |
G |
A |
1: 159,677,704 (GRCm39) |
E30K |
possibly damaging |
Het |
Tnrc18 |
G |
T |
5: 142,800,905 (GRCm39) |
P18T |
probably damaging |
Het |
Ttk |
T |
G |
9: 83,735,179 (GRCm39) |
S422A |
probably benign |
Het |
Ubap1 |
A |
G |
4: 41,378,968 (GRCm39) |
K61E |
probably damaging |
Het |
Ubr2 |
C |
T |
17: 47,284,952 (GRCm39) |
R522H |
probably damaging |
Het |
Vwf |
A |
T |
6: 125,616,242 (GRCm39) |
E1185D |
possibly damaging |
Het |
Wwp2 |
A |
G |
8: 108,244,547 (GRCm39) |
T194A |
probably benign |
Het |
Zfp36 |
A |
G |
7: 28,077,071 (GRCm39) |
V279A |
probably damaging |
Het |
Zfp870 |
C |
A |
17: 33,101,778 (GRCm39) |
R517L |
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 |
|
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 |
|
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'- AGGCATGGGTGACAGTGTAC -3'
(R):5'- TGTCCCAACTGCAAGGATG -3'
Sequencing Primer
(F):5'- CATGGGTGACAGTGTACAAAGGAC -3'
(R):5'- TGGGGAGAAGAGGTAATATGCCC -3'
|
Posted On |
2014-07-14 |