Incidental Mutation 'IGL00476:Sp2'
ID 332175
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) question?
Stock # IGL00476
Quality Score
Status
Chromosome 11
Chromosomal Location 96844167-96873785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96845387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 578 (R578H)
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 damaging
Transcript: ENSMUST00000062652
AA Change: R578H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: R578H

DomainStartEndE-ValueType
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: R578H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: R578H

DomainStartEndE-ValueType
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: R584H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: R584H

DomainStartEndE-ValueType
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: ENSMUST00000131501
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,035 (GRCm39) T47A possibly damaging Het
Adgrv1 A G 13: 81,637,193 (GRCm39) F3416S probably damaging Het
Arhgap42 T C 9: 9,006,344 (GRCm39) D684G probably damaging Het
Atp13a1 T C 8: 70,249,547 (GRCm39) L270P probably damaging Het
Baz2b T C 2: 59,744,083 (GRCm39) N1474S probably benign Het
Chmp1b2 A C X: 106,859,766 (GRCm39) probably benign Het
Chrna6 A G 8: 27,896,560 (GRCm39) I439T probably damaging Het
Cylc2 T C 4: 51,228,157 (GRCm39) M76T probably damaging Het
Ddx19a T C 8: 111,703,102 (GRCm39) K445R probably benign Het
Dennd4a A T 9: 64,819,044 (GRCm39) Y1733F probably damaging Het
Dop1b G A 16: 93,596,914 (GRCm39) probably benign Het
Ephb3 T A 16: 21,039,165 (GRCm39) probably null Het
Gpc2 G A 5: 138,272,571 (GRCm39) probably benign Het
Ift172 A G 5: 31,433,240 (GRCm39) Y550H probably damaging Het
Kat2a G A 11: 100,596,210 (GRCm39) R782W probably damaging Het
Ldhd G T 8: 112,355,270 (GRCm39) R238S possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mipep T G 14: 61,064,810 (GRCm39) L388R probably damaging Het
Mucl3 G T 17: 35,948,994 (GRCm39) H202N possibly damaging Het
Naa35 A G 13: 59,777,869 (GRCm39) D610G probably damaging Het
Nae1 A T 8: 105,253,013 (GRCm39) L137Q possibly damaging Het
Nt5dc3 T C 10: 86,669,838 (GRCm39) probably null Het
Nyx T C X: 13,353,264 (GRCm39) F373L possibly damaging Het
Scaf11 A T 15: 96,316,461 (GRCm39) D1034E possibly damaging Het
Taar7a A T 10: 23,868,294 (GRCm39) probably benign Het
Tcf23 G T 5: 31,130,869 (GRCm39) C169F probably benign Het
Trim7 A T 11: 48,738,905 (GRCm39) N308I probably benign Het
Ubxn8 T C 8: 34,125,333 (GRCm39) E89G probably benign Het
Other mutations in Sp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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 2015-08-05