Incidental Mutation 'R5178:Sp2'
ID 399498
Institutional Source Beutler Lab
Gene Symbol Sp2
Ensembl Gene ENSMUSG00000018678
Gene Name Sp2 transcription factor
Synonyms
MMRRC Submission 042758-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5178 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96844167-96873785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96846664 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 554 (F554L)
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 benign
Transcript: ENSMUST00000062652
AA Change: F554L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000051403
Gene: ENSMUSG00000018678
AA Change: F554L

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 benign
Transcript: ENSMUST00000107623
AA Change: F554L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000103249
Gene: ENSMUSG00000018678
AA Change: F554L

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 benign
Transcript: ENSMUST00000107624
AA Change: F560L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103250
Gene: ENSMUSG00000018678
AA Change: F560L

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 benign
Transcript: ENSMUST00000107626
AA Change: F560L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000103252
Gene: ENSMUSG00000018678
AA Change: F560L

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 0.0583 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abt1 G T 13: 23,606,819 (GRCm39) A94E possibly damaging Het
Carmil2 G T 8: 106,423,521 (GRCm39) G1207V probably damaging Het
Cndp2 A T 18: 84,693,153 (GRCm39) N202K probably benign Het
Cyp2c66 A G 19: 39,159,473 (GRCm39) Y308C probably damaging Het
Dhx29 T G 13: 113,069,134 (GRCm39) S155A possibly damaging Het
Dnah7b T G 1: 46,397,376 (GRCm39) F3936V possibly damaging Het
Dsg1b G A 18: 20,530,560 (GRCm39) G405E probably damaging Het
Exo5 A T 4: 120,778,734 (GRCm39) probably null Het
Fam171b T C 2: 83,710,331 (GRCm39) F668L probably damaging Het
Gemin5 A T 11: 58,037,344 (GRCm39) S624T probably benign Het
Gpc2 C A 5: 138,273,867 (GRCm39) V444L possibly damaging Het
Hephl1 T A 9: 14,997,468 (GRCm39) K399N probably damaging Het
Lair1 G A 7: 4,013,488 (GRCm39) T82I possibly damaging Het
Lhx1 G T 11: 84,411,214 (GRCm39) A155E possibly damaging Het
Maip1 G A 1: 57,454,849 (GRCm39) D278N probably benign Het
Mcm4 T A 16: 15,453,167 (GRCm39) D174V probably benign Het
Mcph1 T A 8: 18,657,342 (GRCm39) D60E probably damaging Het
Mmp17 T A 5: 129,672,122 (GRCm39) W132R probably damaging Het
Or4p7 C T 2: 88,221,819 (GRCm39) T76I possibly damaging Het
Or7e174 T A 9: 20,012,488 (GRCm39) C144* probably null Het
Pds5a T C 5: 65,821,218 (GRCm39) T169A probably damaging Het
Pfkm A G 15: 98,029,396 (GRCm39) N697D probably benign Het
Pira1 T A 7: 3,742,396 (GRCm39) K44* probably null Het
Ppwd1 A T 13: 104,356,943 (GRCm39) S191T probably benign Het
Ranbp2 T A 10: 58,312,607 (GRCm39) M1109K probably benign Het
Robo4 T C 9: 37,319,256 (GRCm39) W535R probably damaging Het
Rsf1 A G 7: 97,311,079 (GRCm39) D603G possibly damaging Het
Slc22a26 T C 19: 7,767,540 (GRCm39) T289A possibly damaging Het
Sp4 A G 12: 118,225,624 (GRCm39) V580A possibly damaging Het
Tbc1d19 T A 5: 54,046,667 (GRCm39) S413T possibly damaging Het
Tecta T C 9: 42,286,481 (GRCm39) D725G probably damaging Het
Tmem200a T A 10: 25,870,277 (GRCm39) Q4H probably benign Het
Tpx2 T A 2: 152,717,469 (GRCm39) I122N probably benign Het
Trgc4 A G 13: 19,528,932 (GRCm39) probably benign Het
Ube4b T C 4: 149,427,449 (GRCm39) M900V probably damaging Het
Vmn1r87 G T 7: 12,865,792 (GRCm39) A165E possibly damaging Het
Vmn2r95 A G 17: 18,660,337 (GRCm39) T250A probably benign Het
Wasf1 G A 10: 40,813,672 (GRCm39) R518H unknown Het
Zfhx2 A T 14: 55,312,232 (GRCm39) F154Y probably benign Het
Zfp729a A G 13: 67,785,764 (GRCm39) probably null Het
Zfp976 A G 7: 42,261,925 (GRCm39) probably null 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
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
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'- CTTATCTGAAAATGCTACACACAGC -3'
(R):5'- TCACTCGGGGACAAGTCTTG -3'

Sequencing Primer
(F):5'- TGCTACACACAGCATTTGGC -3'
(R):5'- GACAAGTCTTGGCCTGACCTC -3'
Posted On 2016-07-06