Incidental Mutation 'R1941:Sp2'
ID 214026
Institutional Source Beutler Lab
Gene Symbol Sp2
Ensembl Gene ENSMUSG00000018678
Gene Name Sp2 transcription factor
Synonyms
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96844167-96873785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 96846762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 527 (C527Y)
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: C521Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: C521Y

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: C521Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: C521Y

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: C527Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: C527Y

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: C527Y

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000103252
Gene: ENSMUSG00000018678
AA Change: C527Y

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 0.9615 question?
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Cyp4a12b A G 4: 115,295,256 (GRCm39) N454S probably damaging Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly 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
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
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'- AGGCATGGGTGACAGTGTAC -3'
(R):5'- TGTCCCAACTGCAAGGATG -3'

Sequencing Primer
(F):5'- CATGGGTGACAGTGTACAAAGGAC -3'
(R):5'- TGGGGAGAAGAGGTAATATGCCC -3'
Posted On 2014-07-14