Incidental Mutation 'R0082:Sp2'
ID |
19730 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp2
|
Ensembl Gene |
ENSMUSG00000018678 |
Gene Name |
Sp2 transcription factor |
Synonyms |
|
MMRRC Submission |
038369-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0082 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
96844167-96873785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96852525 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 133
(Y133C)
|
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: Y127C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051403 Gene: ENSMUSG00000018678 AA Change: Y127C
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: Y127C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103249 Gene: ENSMUSG00000018678 AA Change: Y127C
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: Y133C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103250 Gene: ENSMUSG00000018678 AA Change: Y133C
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: Y133C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103252 Gene: ENSMUSG00000018678 AA Change: Y133C
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 |
0.8252 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.3%
- 10x: 91.7%
- 20x: 73.7%
|
Validation Efficiency |
94% (136/144) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
C |
12: 21,379,049 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,099,497 (GRCm39) |
|
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Ankrd33b |
T |
C |
15: 31,297,935 (GRCm39) |
N274S |
probably benign |
Het |
Antkmt |
T |
C |
17: 26,010,548 (GRCm39) |
I89V |
probably benign |
Het |
Arhgef1 |
C |
T |
7: 24,612,030 (GRCm39) |
Q100* |
probably null |
Het |
Ccdc180 |
A |
G |
4: 45,896,205 (GRCm39) |
D118G |
probably null |
Het |
Cdh23 |
T |
C |
10: 60,148,366 (GRCm39) |
D2667G |
probably damaging |
Het |
Cdh4 |
A |
T |
2: 179,535,981 (GRCm39) |
N844I |
possibly damaging |
Het |
Cep57 |
T |
C |
9: 13,722,172 (GRCm39) |
|
probably benign |
Het |
Dnah7a |
A |
T |
1: 53,557,867 (GRCm39) |
D2182E |
probably damaging |
Het |
Dync1h1 |
A |
G |
12: 110,602,880 (GRCm39) |
T2174A |
probably benign |
Het |
Eef1akmt2 |
T |
A |
7: 132,453,201 (GRCm39) |
R44* |
probably null |
Het |
Evpl |
T |
A |
11: 116,125,829 (GRCm39) |
I43F |
probably damaging |
Het |
F13a1 |
G |
T |
13: 37,172,927 (GRCm39) |
P151Q |
probably damaging |
Het |
Galnt5 |
A |
T |
2: 57,889,047 (GRCm39) |
I216F |
possibly damaging |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Gpr139 |
T |
A |
7: 118,744,268 (GRCm39) |
T106S |
probably benign |
Het |
Hoatz |
T |
C |
9: 51,013,102 (GRCm39) |
T57A |
probably benign |
Het |
Hoxb3 |
A |
G |
11: 96,235,097 (GRCm39) |
D8G |
probably damaging |
Het |
Hpse |
T |
C |
5: 100,840,128 (GRCm39) |
K330E |
possibly damaging |
Het |
Kcmf1 |
G |
T |
6: 72,827,470 (GRCm39) |
|
probably null |
Het |
Klra2 |
T |
C |
6: 131,197,210 (GRCm39) |
N263S |
possibly damaging |
Het |
Klra8 |
T |
C |
6: 130,102,018 (GRCm39) |
D139G |
probably benign |
Het |
Lrrc46 |
A |
C |
11: 96,931,903 (GRCm39) |
|
probably benign |
Het |
Ly86 |
A |
T |
13: 37,602,513 (GRCm39) |
|
probably null |
Het |
Mmp20 |
C |
T |
9: 7,642,808 (GRCm39) |
T214M |
probably benign |
Het |
Or4k5 |
A |
T |
14: 50,385,512 (GRCm39) |
I273K |
probably damaging |
Het |
Or52s1b |
G |
T |
7: 102,822,409 (GRCm39) |
A145E |
probably benign |
Het |
Or6c1b |
T |
C |
10: 129,273,140 (GRCm39) |
I153T |
possibly damaging |
Het |
Or6c209 |
G |
A |
10: 129,483,522 (GRCm39) |
C175Y |
probably benign |
Het |
Pigg |
A |
G |
5: 108,460,751 (GRCm39) |
|
probably benign |
Het |
Polq |
C |
A |
16: 36,837,619 (GRCm39) |
T177K |
probably benign |
Het |
Pomgnt2 |
A |
T |
9: 121,811,326 (GRCm39) |
V485E |
probably damaging |
Het |
Ppip5k2 |
A |
T |
1: 97,687,057 (GRCm39) |
C49* |
probably null |
Het |
Prkrip1 |
T |
C |
5: 136,226,682 (GRCm39) |
N53D |
possibly damaging |
Het |
Prrc2b |
T |
C |
2: 32,102,310 (GRCm39) |
|
probably benign |
Het |
Qprt |
T |
C |
7: 126,707,358 (GRCm39) |
E246G |
probably damaging |
Het |
Rpl9 |
A |
G |
5: 65,545,995 (GRCm39) |
V167A |
probably benign |
Het |
Rskr |
T |
C |
11: 78,184,384 (GRCm39) |
S244P |
probably damaging |
Het |
Sfi1 |
TCGC |
TC |
11: 3,096,254 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
T |
C |
5: 113,436,702 (GRCm39) |
I43V |
probably benign |
Het |
Slc38a7 |
A |
G |
8: 96,567,109 (GRCm39) |
|
probably benign |
Het |
Slc8b1 |
A |
G |
5: 120,662,265 (GRCm39) |
|
probably benign |
Het |
Spdye4b |
A |
T |
5: 143,181,430 (GRCm39) |
D95V |
probably damaging |
Het |
Srek1 |
T |
C |
13: 103,880,194 (GRCm39) |
T455A |
unknown |
Het |
Stox2 |
A |
T |
8: 47,656,317 (GRCm39) |
|
probably benign |
Het |
Synrg |
T |
A |
11: 83,878,736 (GRCm39) |
|
probably benign |
Het |
Tie1 |
T |
A |
4: 118,341,550 (GRCm39) |
E254V |
probably damaging |
Het |
Tmem97 |
G |
T |
11: 78,433,414 (GRCm39) |
F160L |
probably damaging |
Het |
Utp6 |
A |
T |
11: 79,844,457 (GRCm39) |
H189Q |
possibly damaging |
Het |
Vip |
T |
A |
10: 5,594,953 (GRCm39) |
*172R |
probably null |
Het |
Wdr91 |
T |
C |
6: 34,883,620 (GRCm39) |
R132G |
possibly damaging |
Het |
Wipi1 |
T |
C |
11: 109,469,110 (GRCm39) |
|
probably benign |
Het |
Zfp445 |
A |
G |
9: 122,681,421 (GRCm39) |
V840A |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGGTGAGCGTCATGTTGCTAC -3'
(R):5'- TCCCTCTCAGTCCCTGCAAGAATAG -3'
Sequencing Primer
(F):5'- CTGCACAGGGGTGGTAGTC -3'
(R):5'- GTCCCTGCAAGAATAGCTTTAGC -3'
|
Posted On |
2013-04-11 |