Incidental Mutation 'R5178:Sp2'
ID |
399498 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sp2
|
Ensembl Gene |
ENSMUSG00000018678 |
Gene Name |
Sp2 transcription factor |
Synonyms |
|
MMRRC Submission |
042758-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5178 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
96844167-96873785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96846664 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 554
(F554L)
|
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 benign
Transcript: ENSMUST00000062652
AA Change: F554L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000051403 Gene: ENSMUSG00000018678 AA Change: F554L
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: F554L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000103249 Gene: ENSMUSG00000018678 AA Change: F554L
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: F560L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103250 Gene: ENSMUSG00000018678 AA Change: F560L
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: F560L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000103252 Gene: ENSMUSG00000018678 AA Change: F560L
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 |
0.0583 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
Lhx1 |
G |
T |
11: 84,411,214 (GRCm39) |
A155E |
possibly damaging |
Het |
Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
Mmp17 |
T |
A |
5: 129,672,122 (GRCm39) |
W132R |
probably damaging |
Het |
Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
Pds5a |
T |
C |
5: 65,821,218 (GRCm39) |
T169A |
probably damaging |
Het |
Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,046,667 (GRCm39) |
S413T |
possibly damaging |
Het |
Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
Wasf1 |
G |
A |
10: 40,813,672 (GRCm39) |
R518H |
unknown |
Het |
Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- CTTATCTGAAAATGCTACACACAGC -3'
(R):5'- TCACTCGGGGACAAGTCTTG -3'
Sequencing Primer
(F):5'- TGCTACACACAGCATTTGGC -3'
(R):5'- GACAAGTCTTGGCCTGACCTC -3'
|
Posted On |
2016-07-06 |