Incidental Mutation 'R5828:Sp2'
| ID |
450283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sp2
|
| Ensembl Gene |
ENSMUSG00000018678 |
| Gene Name |
Sp2 transcription factor |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5828 (G1)
|
| Quality Score |
218 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96844167-96873785 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 96851811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
| 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
|
| SMART Domains |
Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
| 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 |
noncoding transcript
Transcript: ENSMUST00000107628
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135825
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186326
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (63/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,432,144 (GRCm39) |
D95G |
unknown |
Het |
| Arl10 |
T |
A |
13: 54,726,768 (GRCm39) |
V182E |
probably damaging |
Het |
| Cacna1g |
T |
G |
11: 94,347,980 (GRCm39) |
S703R |
probably damaging |
Het |
| Ces2a |
C |
A |
8: 105,465,956 (GRCm39) |
T363N |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,300,372 (GRCm39) |
V967I |
unknown |
Het |
| Col22a1 |
A |
T |
15: 71,881,340 (GRCm39) |
F4I |
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,173,302 (GRCm39) |
W289R |
possibly damaging |
Het |
| Disc1 |
A |
G |
8: 125,977,763 (GRCm39) |
Q793R |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,369,388 (GRCm39) |
T4337I |
probably benign |
Het |
| Eif2b5 |
T |
A |
16: 20,321,536 (GRCm39) |
V363D |
possibly damaging |
Het |
| Emsy |
T |
C |
7: 98,242,699 (GRCm39) |
T1147A |
probably benign |
Het |
| Epg5 |
T |
A |
18: 78,064,066 (GRCm39) |
Y2048N |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Foxred1 |
A |
G |
9: 35,121,492 (GRCm39) |
|
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,471 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
C |
9: 4,432,832 (GRCm39) |
L784V |
probably damaging |
Het |
| Homer3 |
A |
G |
8: 70,738,956 (GRCm39) |
Y105C |
probably benign |
Het |
| Hpgd |
T |
C |
8: 56,772,106 (GRCm39) |
S193P |
probably benign |
Het |
| Irf1 |
T |
A |
11: 53,666,762 (GRCm39) |
W247R |
probably benign |
Het |
| Lpgat1 |
A |
G |
1: 191,508,494 (GRCm39) |
Q344R |
possibly damaging |
Het |
| Luzp1 |
T |
C |
4: 136,267,993 (GRCm39) |
V72A |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 15,531,464 (GRCm39) |
V8M |
probably benign |
Het |
| Msmo1 |
T |
C |
8: 65,172,144 (GRCm39) |
H253R |
probably damaging |
Het |
| Nom1 |
A |
G |
5: 29,640,124 (GRCm39) |
K150R |
possibly damaging |
Het |
| Onecut1 |
A |
G |
9: 74,770,042 (GRCm39) |
E155G |
probably benign |
Het |
| Or12k7 |
A |
G |
2: 36,959,001 (GRCm39) |
H228R |
probably benign |
Het |
| Or14c46 |
T |
A |
7: 85,918,728 (GRCm39) |
M90L |
probably benign |
Het |
| Or5p59 |
T |
C |
7: 107,703,005 (GRCm39) |
V163A |
possibly damaging |
Het |
| Osbpl10 |
G |
A |
9: 114,890,944 (GRCm39) |
V111M |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,877,457 (GRCm39) |
S722P |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,414,064 (GRCm39) |
D187V |
probably damaging |
Het |
| Pmf1 |
T |
C |
3: 88,303,294 (GRCm39) |
E89G |
possibly damaging |
Het |
| Polr1d |
A |
T |
5: 147,014,408 (GRCm39) |
|
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,158,200 (GRCm39) |
Y1006H |
probably damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,537,134 (GRCm39) |
K420E |
probably benign |
Het |
| Prdx1 |
T |
C |
4: 116,551,006 (GRCm39) |
L159P |
probably damaging |
Het |
| Psmd6 |
G |
T |
14: 14,119,990 (GRCm38) |
D39E |
probably benign |
Het |
| Rffl |
T |
C |
11: 82,709,244 (GRCm39) |
K60E |
probably damaging |
Het |
| Rspo2 |
A |
T |
15: 42,939,283 (GRCm39) |
L169Q |
probably damaging |
Het |
| Sbf1 |
T |
A |
15: 89,172,837 (GRCm39) |
D1892V |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,902,424 (GRCm39) |
S475F |
possibly damaging |
Het |
| Serpina3i |
T |
A |
12: 104,231,474 (GRCm39) |
V37E |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,001,137 (GRCm39) |
C35Y |
probably damaging |
Het |
| Slc22a27 |
G |
T |
19: 7,903,767 (GRCm39) |
D123E |
probably damaging |
Het |
| Smim23 |
T |
A |
11: 32,770,592 (GRCm39) |
K105* |
probably null |
Het |
| Soat1 |
C |
T |
1: 156,265,318 (GRCm39) |
S348N |
probably benign |
Het |
| St14 |
T |
A |
9: 31,002,803 (GRCm39) |
H700L |
probably damaging |
Het |
| St3gal1 |
T |
A |
15: 66,985,634 (GRCm39) |
K7* |
probably null |
Het |
| Tgm1 |
T |
C |
14: 55,943,011 (GRCm39) |
K610E |
probably benign |
Het |
| Tob1 |
T |
A |
11: 94,104,583 (GRCm39) |
Y40N |
probably damaging |
Het |
| Tob1 |
T |
A |
11: 94,104,585 (GRCm39) |
Y40* |
probably null |
Het |
| Trpc4ap |
A |
G |
2: 155,477,130 (GRCm39) |
|
probably benign |
Het |
| Ttc9 |
C |
T |
12: 81,678,450 (GRCm39) |
P91L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,446 (GRCm39) |
S269P |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
| Zfyve16 |
A |
T |
13: 92,650,410 (GRCm39) |
V858E |
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 |
|
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 |
|
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'- GTATACAGATCTACCCCATTATGCCC -3'
(R):5'- AACCTGCTGATCGTCCAGAG -3'
Sequencing Primer
(F):5'- TTATGCCCCCAGAGCTACC -3'
(R):5'- TGTGGTCCAGCAAGTCCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation