Incidental Mutation 'PIT4812001:Sp1'
ID 556938
Institutional Source Beutler Lab
Gene Symbol Sp1
Ensembl Gene ENSMUSG00000001280
Gene Name trans-acting transcription factor 1
Synonyms Sp1-1, 1110003E12Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # PIT4812001 (G1)
Quality Score 193.009
Status Not validated
Chromosome 15
Chromosomal Location 102314751-102344839 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102316843 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 121 (T121A)
Ref Sequence ENSEMBL: ENSMUSP00000001326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001326] [ENSMUST00000163709] [ENSMUST00000165837] [ENSMUST00000168802] [ENSMUST00000169619] [ENSMUST00000170884]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000001326
AA Change: T121A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000001326
Gene: ENSMUSG00000001280
AA Change: T121A

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 37 62 N/A INTRINSIC
low complexity region 74 90 N/A INTRINSIC
low complexity region 279 296 N/A INTRINSIC
low complexity region 300 333 N/A INTRINSIC
low complexity region 341 354 N/A INTRINSIC
low complexity region 370 422 N/A INTRINSIC
low complexity region 464 480 N/A INTRINSIC
ZnF_C2H2 624 648 4.34e0 SMART
ZnF_C2H2 654 678 1.98e-4 SMART
ZnF_C2H2 684 706 1.12e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163709
SMART Domains Protein: ENSMUSP00000130747
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 22 33 N/A INTRINSIC
low complexity region 37 108 N/A INTRINSIC
low complexity region 150 166 N/A INTRINSIC
ZnF_C2H2 310 334 4.34e0 SMART
ZnF_C2H2 340 364 1.98e-4 SMART
ZnF_C2H2 370 392 1.12e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165837
AA Change: T114A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126143
Gene: ENSMUSG00000001280
AA Change: T114A

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168802
SMART Domains Protein: ENSMUSP00000127445
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
low complexity region 67 83 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169619
SMART Domains Protein: ENSMUSP00000127714
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170884
SMART Domains Protein: ENSMUSP00000129638
Gene: ENSMUSG00000001280

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 30 55 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.8%
  • 3x: 91.0%
  • 10x: 85.3%
  • 20x: 73.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differentiation, cell growth, apoptosis, immune responses, response to DNA damage, and chromatin remodeling. Post-translational modifications such as phosphorylation, acetylation, glycosylation, and proteolytic processing significantly affect the activity of this protein, which can be an activator or a repressor. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
PHENOTYPE: Homozygous null mice display reduced embryo size and die during organogenesis with a broad range of developmental defects. Heterozygous null mice are viable but slightly growth retarded, may lack one or both eyes, and show a decreased erythroid progenitor cell number in fetal liver cultures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,630,053 (GRCm39) S252P possibly damaging Het
4933409G03Rik G A 2: 68,419,292 (GRCm39) V14I probably benign Het
Adgrf5 T G 17: 43,761,260 (GRCm39) V985G probably damaging Het
Ankrd44 A T 1: 54,762,197 (GRCm39) Y542* probably null Het
Atp13a3 T C 16: 30,181,396 (GRCm39) T75A probably damaging Het
Atr T C 9: 95,792,702 (GRCm39) F1675L probably benign Het
Atrnl1 A G 19: 57,720,055 (GRCm39) I1082V probably benign Het
Clip1 T A 5: 123,768,738 (GRCm39) R620S probably benign Het
Cped1 T C 6: 22,122,293 (GRCm39) F391S probably benign Het
Cracr2a T C 6: 127,602,833 (GRCm39) L230P probably damaging Het
Dctn1 T A 6: 83,176,744 (GRCm39) V1266E possibly damaging Het
Dlg1 T A 16: 31,665,703 (GRCm39) F687I probably benign Het
Dnah8 C A 17: 30,927,419 (GRCm39) D1358E probably benign Het
Dnajc11 A G 4: 152,037,346 (GRCm39) R84G probably benign Het
Dnajc14 C A 10: 128,642,552 (GRCm39) T158N probably damaging Het
Dscc1 A G 15: 54,945,657 (GRCm39) L346P probably damaging Het
Efcab3 A G 11: 104,990,805 (GRCm39) I71V probably null Het
Erbb3 T A 10: 128,410,248 (GRCm39) Q670L possibly damaging Het
Ercc4 G A 16: 12,962,311 (GRCm39) E652K probably benign Het
Ercc6l2 T A 13: 64,006,071 (GRCm39) V591D possibly damaging Het
Fam3c C T 6: 22,321,369 (GRCm39) G134E probably damaging Het
Frmd5 A G 2: 121,416,927 (GRCm39) V70A probably benign Het
Gjd3 A T 11: 102,691,807 (GRCm39) Y65* probably null Het
Gm3033 A C 14: 3,848,891 (GRCm38) L137F Het
Gria4 C A 9: 4,427,128 (GRCm39) A771S probably damaging Het
Hc A G 2: 34,919,464 (GRCm39) L674P probably benign Het
Hjurp CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT C 1: 88,193,999 (GRCm39) probably benign Het
Hycc2 T G 1: 58,587,862 (GRCm39) D117A possibly damaging Het
Inpp5f A T 7: 128,294,032 (GRCm39) Y696F probably benign Het
Itga11 C A 9: 62,639,475 (GRCm39) Q157K probably damaging Het
Itgb5 G T 16: 33,740,357 (GRCm39) C489F probably damaging Het
Klhl38 C T 15: 58,185,938 (GRCm39) G264S probably benign Het
Krt78 C T 15: 101,856,504 (GRCm39) V436M probably damaging Het
Mia2 A T 12: 59,148,365 (GRCm39) D75V possibly damaging Het
Mphosph6 T A 8: 118,525,888 (GRCm39) Q20L probably damaging Het
Ogfr C T 2: 180,237,304 (GRCm39) P630S possibly damaging Het
Or2c1 A T 16: 3,657,394 (GRCm39) K186* probably null Het
Or4c11 G A 2: 88,695,314 (GRCm39) V122M probably benign Het
Or5an9 T G 19: 12,187,617 (GRCm39) I229S probably damaging Het
Pbx3 T C 2: 34,114,631 (GRCm39) E101G probably damaging Het
Pcca T A 14: 123,027,794 (GRCm39) N587K probably benign Het
Pdia3 G T 2: 121,264,011 (GRCm39) A287S probably damaging Het
Pfas T A 11: 68,880,862 (GRCm39) D209V Het
Pramel29 A G 4: 143,936,086 (GRCm39) I56T probably benign Het
Pter A T 2: 12,985,179 (GRCm39) I170F probably damaging Het
Ptprq A T 10: 107,502,428 (GRCm39) V830E probably damaging Het
Rab11fip5 T C 6: 85,318,540 (GRCm39) D783G probably benign Het
Rbm19 T C 5: 120,266,315 (GRCm39) V446A possibly damaging Het
Selp A G 1: 163,959,832 (GRCm39) N363D probably benign Het
Six2 C A 17: 85,992,729 (GRCm39) S258I possibly damaging Het
Smc1b A G 15: 84,953,852 (GRCm39) V1139A possibly damaging Het
Sucla2 A T 14: 73,816,889 (GRCm39) I210L possibly damaging Het
Trank1 T C 9: 111,176,980 (GRCm39) L339P probably damaging Het
Ttll5 T A 12: 85,973,635 (GRCm39) D794E probably benign Het
Usp32 C T 11: 84,900,900 (GRCm39) V1107I probably damaging Het
Vmn1r195 T C 13: 22,463,033 (GRCm39) Y168H probably benign Het
Vmn1r223 A G 13: 23,434,060 (GRCm39) N218S probably damaging Het
Vmn2r25 T A 6: 123,800,447 (GRCm39) S632C probably damaging Het
Vwa3a A T 7: 120,375,356 (GRCm39) K390I probably damaging Het
Zfp442 A T 2: 150,251,661 (GRCm39) C80* probably null Het
Zic1 A T 9: 91,246,394 (GRCm39) I226N probably damaging Het
Other mutations in Sp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Sp1 APN 15 102,339,364 (GRCm39) missense probably damaging 1.00
R0758:Sp1 UTSW 15 102,314,805 (GRCm39) splice site probably null
R1509:Sp1 UTSW 15 102,316,314 (GRCm39) missense possibly damaging 0.66
R1611:Sp1 UTSW 15 102,339,370 (GRCm39) missense probably damaging 0.99
R1820:Sp1 UTSW 15 102,317,511 (GRCm39) missense possibly damaging 0.73
R1824:Sp1 UTSW 15 102,339,438 (GRCm39) missense possibly damaging 0.70
R2107:Sp1 UTSW 15 102,318,113 (GRCm39) splice site probably null
R4508:Sp1 UTSW 15 102,317,747 (GRCm39) missense possibly damaging 0.53
R4857:Sp1 UTSW 15 102,339,409 (GRCm39) missense probably damaging 0.99
R5512:Sp1 UTSW 15 102,339,445 (GRCm39) missense possibly damaging 0.91
R5559:Sp1 UTSW 15 102,317,365 (GRCm39) missense probably benign 0.18
R5833:Sp1 UTSW 15 102,339,352 (GRCm39) missense possibly damaging 0.92
R6377:Sp1 UTSW 15 102,339,318 (GRCm39) missense probably benign 0.13
R8059:Sp1 UTSW 15 102,316,337 (GRCm39) missense possibly damaging 0.73
R8434:Sp1 UTSW 15 102,318,118 (GRCm39) missense probably benign 0.00
R8537:Sp1 UTSW 15 102,316,964 (GRCm39) missense possibly damaging 0.86
R9038:Sp1 UTSW 15 102,316,320 (GRCm39) missense probably benign 0.18
X0050:Sp1 UTSW 15 102,317,846 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CTCTCTTCTGGCCAGGAATC -3'
(R):5'- TGCTGCCCATCAACAGTCTG -3'

Sequencing Primer
(F):5'- TTCTGGCCAGGAATCCCAGC -3'
(R):5'- CTGGAACTGTGGGATTACTTGATAC -3'
Posted On 2019-06-07