Incidental Mutation 'IGL01865:Sp2'
ID |
178489 |
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 # |
IGL01865
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
96844167-96873785 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 96851868 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 352
(T352I)
|
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: T346I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051403 Gene: ENSMUSG00000018678 AA Change: T346I
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: T346I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103249 Gene: ENSMUSG00000018678 AA Change: T346I
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: T352I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103250 Gene: ENSMUSG00000018678 AA Change: T352I
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: T352I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103252 Gene: ENSMUSG00000018678 AA Change: T352I
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
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,836,107 (GRCm39) |
H162R |
probably damaging |
Het |
Adamts10 |
T |
A |
17: 33,772,140 (GRCm39) |
M1096K |
probably damaging |
Het |
Asap3 |
G |
T |
4: 135,963,715 (GRCm39) |
C325F |
probably damaging |
Het |
Atm |
T |
C |
9: 53,372,302 (GRCm39) |
E2160G |
probably damaging |
Het |
Col4a1 |
G |
A |
8: 11,251,790 (GRCm39) |
|
probably benign |
Het |
Ctdp1 |
C |
T |
18: 80,499,199 (GRCm39) |
G248S |
probably damaging |
Het |
Dcaf5 |
A |
T |
12: 80,386,088 (GRCm39) |
D679E |
probably benign |
Het |
Efcab2 |
C |
A |
1: 178,303,253 (GRCm39) |
Y91* |
probably null |
Het |
Eif3d |
G |
T |
15: 77,851,546 (GRCm39) |
T88K |
probably benign |
Het |
Gapvd1 |
G |
A |
2: 34,585,515 (GRCm39) |
A1049V |
probably null |
Het |
Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm18856 |
T |
A |
13: 14,139,508 (GRCm39) |
|
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm9991 |
A |
G |
1: 90,606,635 (GRCm39) |
|
noncoding transcript |
Het |
Hapln1 |
T |
C |
13: 89,749,784 (GRCm39) |
Y110H |
probably damaging |
Het |
Htr1f |
A |
G |
16: 64,746,282 (GRCm39) |
Y337H |
probably damaging |
Het |
Kirrel1 |
T |
A |
3: 86,993,731 (GRCm39) |
S509C |
probably damaging |
Het |
Limch1 |
A |
T |
5: 67,131,923 (GRCm39) |
R138* |
probably null |
Het |
Lypla1 |
A |
C |
1: 4,907,259 (GRCm39) |
I108L |
probably damaging |
Het |
Mc3r |
A |
G |
2: 172,090,975 (GRCm39) |
N66D |
probably damaging |
Het |
Melk |
T |
A |
4: 44,344,988 (GRCm39) |
C373S |
probably benign |
Het |
Myocd |
C |
A |
11: 65,091,723 (GRCm39) |
S73I |
probably benign |
Het |
Nell2 |
A |
G |
15: 95,282,962 (GRCm39) |
V360A |
possibly damaging |
Het |
Npas4 |
G |
A |
19: 5,035,819 (GRCm39) |
Q782* |
probably null |
Het |
Or7a36 |
A |
T |
10: 78,820,512 (GRCm39) |
D296V |
possibly damaging |
Het |
Pdzd8 |
T |
C |
19: 59,288,077 (GRCm39) |
K1108E |
possibly damaging |
Het |
Per2 |
A |
G |
1: 91,349,239 (GRCm39) |
I1044T |
probably benign |
Het |
Pgm3 |
A |
G |
9: 86,437,371 (GRCm39) |
F501S |
possibly damaging |
Het |
Ppp1r3c |
A |
G |
19: 36,711,578 (GRCm39) |
V64A |
probably benign |
Het |
Ptpn6 |
A |
T |
6: 124,709,428 (GRCm39) |
I15N |
probably damaging |
Het |
Pxk |
T |
C |
14: 8,136,923 (GRCm38) |
V148A |
possibly damaging |
Het |
Rngtt |
T |
A |
4: 33,325,157 (GRCm39) |
|
probably benign |
Het |
Rtkn2 |
T |
G |
10: 67,871,705 (GRCm39) |
S364R |
probably benign |
Het |
Rtn1 |
A |
C |
12: 72,266,074 (GRCm39) |
L167R |
probably damaging |
Het |
Tbc1d17 |
A |
G |
7: 44,492,113 (GRCm39) |
M459T |
possibly damaging |
Het |
Tbcd |
T |
A |
11: 121,481,206 (GRCm39) |
M694K |
possibly damaging |
Het |
Tln2 |
G |
A |
9: 67,157,896 (GRCm39) |
R1148* |
probably null |
Het |
Trim27 |
T |
C |
13: 21,376,662 (GRCm39) |
V294A |
probably damaging |
Het |
Tspyl5 |
G |
T |
15: 33,687,858 (GRCm39) |
A29E |
unknown |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Vrk2 |
C |
T |
11: 26,485,560 (GRCm39) |
V143I |
possibly damaging |
Het |
Zfp952 |
G |
A |
17: 33,221,791 (GRCm39) |
R52Q |
probably benign |
Het |
Zfp979 |
A |
T |
4: 147,699,774 (GRCm39) |
D55E |
probably benign |
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 |
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 |
2014-05-07 |