Incidental Mutation 'R0086:Sp2'
ID 19905
Institutional Source Beutler Lab
Gene Symbol Sp2
Ensembl Gene ENSMUSG00000018678
Gene Name Sp2 transcription factor
Synonyms
MMRRC Submission 038373-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0086 (G1)
Quality Score 217
Status Validated
Chromosome 11
Chromosomal Location 96844167-96873785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 96848253 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 457 (G457C)
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: G451C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: G451C

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: G451C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: G451C

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: G457C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: G457C

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: ENSMUST00000107626
AA Change: G457C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103252
Gene: ENSMUSG00000018678
AA Change: G457C

DomainStartEndE-ValueType
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 0.5468 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.0%
  • 10x: 94.6%
  • 20x: 86.6%
Validation Efficiency 96% (91/95)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,946,802 (GRCm39) V233D probably benign Het
Abcg8 T C 17: 85,000,199 (GRCm39) V252A probably damaging Het
Adam39 C T 8: 41,279,397 (GRCm39) T596I possibly damaging Het
Agap2 C A 10: 126,923,751 (GRCm39) probably null Het
Ap4b1 T G 3: 103,722,176 (GRCm39) V50G probably damaging Het
Atp13a1 T A 8: 70,250,424 (GRCm39) I381N possibly damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Birc6 T C 17: 74,900,161 (GRCm39) V1113A possibly damaging Het
C1galt1 T A 6: 7,867,051 (GRCm39) probably benign Het
Capza2 A G 6: 17,660,773 (GRCm39) K158E probably damaging Het
Cenpe C T 3: 134,970,185 (GRCm39) probably benign Het
Cercam T C 2: 29,761,076 (GRCm39) L42P probably damaging Het
Cfap54 T C 10: 92,864,456 (GRCm39) E807G possibly damaging Het
Cog6 A G 3: 52,900,991 (GRCm39) V157A probably damaging Het
Cts6 A T 13: 61,344,271 (GRCm39) probably benign Het
Cyp2c39 A T 19: 39,499,357 (GRCm39) I15F unknown Het
Dock7 A T 4: 98,833,381 (GRCm39) V1970D probably damaging Het
Exph5 A G 9: 53,249,230 (GRCm39) D73G possibly damaging Het
Gjc2 A T 11: 59,067,672 (GRCm39) M270K probably benign Het
Gns G A 10: 121,227,378 (GRCm39) D463N probably damaging Het
Hoxd8 G T 2: 74,536,276 (GRCm39) G129W probably damaging Het
Ina A G 19: 47,012,030 (GRCm39) T483A possibly damaging Het
Lmod3 T A 6: 97,224,306 (GRCm39) Q505L probably damaging Het
Map3k13 A G 16: 21,732,975 (GRCm39) N526D probably damaging Het
Map3k2 A T 18: 32,351,521 (GRCm39) I435F probably damaging Het
Mfsd6l A G 11: 68,447,391 (GRCm39) T81A probably benign Het
Micall1 T C 15: 79,009,689 (GRCm39) probably benign Het
Mkrn2 G T 6: 115,590,296 (GRCm39) M217I possibly damaging Het
Mtrex G T 13: 113,063,862 (GRCm39) F10L probably benign Het
Myh11 C A 16: 14,041,883 (GRCm39) Q720H probably damaging Het
Ncapg A G 5: 45,834,086 (GRCm39) probably null Het
Nlrp9a G A 7: 26,257,972 (GRCm39) C530Y probably damaging Het
Numb T C 12: 83,842,704 (GRCm39) T442A probably damaging Het
Oip5 C T 2: 119,448,410 (GRCm39) probably benign Het
Or1j14 A T 2: 36,417,462 (GRCm39) I13F possibly damaging Het
Or4c119 C T 2: 88,986,820 (GRCm39) R233H probably benign Het
Or51k1 A G 7: 103,661,261 (GRCm39) I216T probably benign Het
Or8g22 T C 9: 38,958,191 (GRCm39) T175A probably benign Het
Pcnx1 T C 12: 82,038,832 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,419,404 (GRCm39) N2956K possibly damaging Het
Plcl1 T A 1: 55,754,742 (GRCm39) W1030R probably damaging Het
Polr2i G A 7: 29,932,511 (GRCm39) V73M probably damaging Het
Prr14l T A 5: 32,988,903 (GRCm39) probably benign Het
Pxdn G T 12: 30,052,418 (GRCm39) R865L possibly damaging Het
Scnn1a T C 6: 125,319,550 (GRCm39) probably benign Het
Shkbp1 G T 7: 27,051,451 (GRCm39) H203N probably benign Het
Slc22a14 C T 9: 119,051,804 (GRCm39) probably benign Het
Snap29 C A 16: 17,246,100 (GRCm39) T240K probably damaging Het
Ssr2 C T 3: 88,484,187 (GRCm39) probably benign Het
Synpo2 A T 3: 122,910,753 (GRCm39) C297* probably null Het
Tpm3 T A 3: 89,997,399 (GRCm39) probably benign Het
Trmt6 CTG C 2: 132,650,937 (GRCm39) probably benign Het
Trp63 T C 16: 25,689,837 (GRCm39) Y431H probably damaging Het
Tuba3b T A 6: 145,566,886 (GRCm39) C376S probably damaging Het
Ubxn4 G A 1: 128,190,641 (GRCm39) E256K probably benign Het
Ulk1 G A 5: 110,935,573 (GRCm39) probably benign Het
Usp24 T C 4: 106,249,557 (GRCm39) S1425P probably damaging Het
Xdh T C 17: 74,191,433 (GRCm39) I1335V probably benign Het
Zmynd15 T C 11: 70,355,058 (GRCm39) Y352H probably damaging 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
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
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'- GGGCAAGTGACCAGCCAAATTAATG -3'
(R):5'- ACACCTTCTGGTGAGGTACAGACAG -3'

Sequencing Primer
(F):5'- tattactgtaaggaccaagtgtgaag -3'
(R):5'- AGGTACAGACAGTCCTTGTCC -3'
Posted On 2013-04-11