Incidental Mutation 'R0082:Sp2'
ID 19730
Institutional Source Beutler Lab
Gene Symbol Sp2
Ensembl Gene ENSMUSG00000018678
Gene Name Sp2 transcription factor
Synonyms
MMRRC Submission 038369-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0082 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 96844167-96873785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96852525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 133 (Y133C)
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: Y127C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: Y127C

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: Y127C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: Y127C

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: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: Y133C

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: Y133C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103252
Gene: ENSMUSG00000018678
AA Change: Y133C

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: ENSMUST00000135825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186326
Meta Mutation Damage Score 0.8252 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.3%
  • 10x: 91.7%
  • 20x: 73.7%
Validation Efficiency 94% (136/144)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A C 12: 21,379,049 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,497 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Ankrd33b T C 15: 31,297,935 (GRCm39) N274S probably benign Het
Antkmt T C 17: 26,010,548 (GRCm39) I89V probably benign Het
Arhgef1 C T 7: 24,612,030 (GRCm39) Q100* probably null Het
Ccdc180 A G 4: 45,896,205 (GRCm39) D118G probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Cdh4 A T 2: 179,535,981 (GRCm39) N844I possibly damaging Het
Cep57 T C 9: 13,722,172 (GRCm39) probably benign Het
Dnah7a A T 1: 53,557,867 (GRCm39) D2182E probably damaging Het
Dync1h1 A G 12: 110,602,880 (GRCm39) T2174A probably benign Het
Eef1akmt2 T A 7: 132,453,201 (GRCm39) R44* probably null Het
Evpl T A 11: 116,125,829 (GRCm39) I43F probably damaging Het
F13a1 G T 13: 37,172,927 (GRCm39) P151Q probably damaging Het
Galnt5 A T 2: 57,889,047 (GRCm39) I216F possibly damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gpr139 T A 7: 118,744,268 (GRCm39) T106S probably benign Het
Hoatz T C 9: 51,013,102 (GRCm39) T57A probably benign Het
Hoxb3 A G 11: 96,235,097 (GRCm39) D8G probably damaging Het
Hpse T C 5: 100,840,128 (GRCm39) K330E possibly damaging Het
Kcmf1 G T 6: 72,827,470 (GRCm39) probably null Het
Klra2 T C 6: 131,197,210 (GRCm39) N263S possibly damaging Het
Klra8 T C 6: 130,102,018 (GRCm39) D139G probably benign Het
Lrrc46 A C 11: 96,931,903 (GRCm39) probably benign Het
Ly86 A T 13: 37,602,513 (GRCm39) probably null Het
Mmp20 C T 9: 7,642,808 (GRCm39) T214M probably benign Het
Or4k5 A T 14: 50,385,512 (GRCm39) I273K probably damaging Het
Or52s1b G T 7: 102,822,409 (GRCm39) A145E probably benign Het
Or6c1b T C 10: 129,273,140 (GRCm39) I153T possibly damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Pigg A G 5: 108,460,751 (GRCm39) probably benign Het
Polq C A 16: 36,837,619 (GRCm39) T177K probably benign Het
Pomgnt2 A T 9: 121,811,326 (GRCm39) V485E probably damaging Het
Ppip5k2 A T 1: 97,687,057 (GRCm39) C49* probably null Het
Prkrip1 T C 5: 136,226,682 (GRCm39) N53D possibly damaging Het
Prrc2b T C 2: 32,102,310 (GRCm39) probably benign Het
Qprt T C 7: 126,707,358 (GRCm39) E246G probably damaging Het
Rpl9 A G 5: 65,545,995 (GRCm39) V167A probably benign Het
Rskr T C 11: 78,184,384 (GRCm39) S244P probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sgsm1 T C 5: 113,436,702 (GRCm39) I43V probably benign Het
Slc38a7 A G 8: 96,567,109 (GRCm39) probably benign Het
Slc8b1 A G 5: 120,662,265 (GRCm39) probably benign Het
Spdye4b A T 5: 143,181,430 (GRCm39) D95V probably damaging Het
Srek1 T C 13: 103,880,194 (GRCm39) T455A unknown Het
Stox2 A T 8: 47,656,317 (GRCm39) probably benign Het
Synrg T A 11: 83,878,736 (GRCm39) probably benign Het
Tie1 T A 4: 118,341,550 (GRCm39) E254V probably damaging Het
Tmem97 G T 11: 78,433,414 (GRCm39) F160L probably damaging Het
Utp6 A T 11: 79,844,457 (GRCm39) H189Q possibly damaging Het
Vip T A 10: 5,594,953 (GRCm39) *172R probably null Het
Wdr91 T C 6: 34,883,620 (GRCm39) R132G possibly damaging Het
Wipi1 T C 11: 109,469,110 (GRCm39) probably benign Het
Zfp445 A G 9: 122,681,421 (GRCm39) V840A 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
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
Predicted Primers PCR Primer
(F):5'- AGGGTGAGCGTCATGTTGCTAC -3'
(R):5'- TCCCTCTCAGTCCCTGCAAGAATAG -3'

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