Incidental Mutation 'R3892:Sp3'
ID 359702
Institutional Source Beutler Lab
Gene Symbol Sp3
Ensembl Gene ENSMUSG00000027109
Gene Name trans-acting transcription factor 3
Synonyms D130027J01Rik
MMRRC Submission 040804-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3892 (G1)
Quality Score 24
Status Validated
Chromosome 2
Chromosomal Location 72766774-72810790 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) A to G at 72809376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066003] [ENSMUST00000102689] [ENSMUST00000112062]
AlphaFold O70494
Predicted Effect probably benign
Transcript: ENSMUST00000066003
SMART Domains Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109

DomainStartEndE-ValueType
low complexity region 14 59 N/A INTRINSIC
low complexity region 188 201 N/A INTRINSIC
low complexity region 231 241 N/A INTRINSIC
low complexity region 387 402 N/A INTRINSIC
low complexity region 425 448 N/A INTRINSIC
ZnF_C2H2 579 603 1.86e0 SMART
ZnF_C2H2 609 633 7.37e-4 SMART
ZnF_C2H2 639 661 5.99e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102689
SMART Domains Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109

DomainStartEndE-ValueType
low complexity region 20 51 N/A INTRINSIC
low complexity region 73 95 N/A INTRINSIC
low complexity region 232 245 N/A INTRINSIC
low complexity region 275 285 N/A INTRINSIC
low complexity region 431 446 N/A INTRINSIC
low complexity region 469 492 N/A INTRINSIC
ZnF_C2H2 623 647 1.86e0 SMART
ZnF_C2H2 653 677 7.37e-4 SMART
ZnF_C2H2 683 705 5.99e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112062
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135297
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146195
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (64/64)
MGI Phenotype FUNCTION: This gene product belongs to a family of Sp1 related transcription factors, which regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses transcription of numerous genes. Alternative splicing results in transcript variants encoding different isoforms, and one variant initiates translation from a non-AUG (AUA) codon. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit a reduced birth body size, skeletal, tooth and hematopoietic defects, and die shortly after birth due to respiratory failure. Homozygous mutant mice bearing a subtle point mutation in the SUMO attachment site show loss of DNAmethylation in sumoylation-deficient MEFs. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 T A 10: 50,718,289 (GRCm39) I1994N probably damaging Het
BC061237 A G 14: 44,738,730 (GRCm39) D43G probably benign Het
Bckdhb A C 9: 83,870,863 (GRCm39) E124D probably damaging Het
Card6 T C 15: 5,128,778 (GRCm39) T873A probably benign Het
Cbs C A 17: 31,835,048 (GRCm39) C476F probably benign Het
Cckbr A C 7: 105,075,376 (GRCm39) T49P probably benign Het
Cd248 C T 19: 5,119,534 (GRCm39) P461S probably damaging Het
Cdh16 T C 8: 105,342,959 (GRCm39) Y19C probably damaging Het
Clip2 T C 5: 134,551,847 (GRCm39) K92E probably damaging Het
Cnnm2 T A 19: 46,750,232 (GRCm39) C7* probably null Het
Ctnnb1 T G 9: 120,779,580 (GRCm39) probably benign Het
Def8 T C 8: 124,185,083 (GRCm39) probably benign Het
Deup1 A G 9: 15,511,009 (GRCm39) Y257H probably damaging Het
Diaph1 C A 18: 38,033,691 (GRCm39) probably benign Het
Dmrta1 A T 4: 89,579,831 (GRCm39) I264F possibly damaging Het
Dnah12 A G 14: 26,578,573 (GRCm39) M491V probably benign Het
Eftud2 A C 11: 102,737,013 (GRCm39) I590S probably damaging Het
Ep300 T C 15: 81,504,198 (GRCm39) probably benign Het
Fam209 A G 2: 172,314,618 (GRCm39) K36E probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Flg A T 3: 93,186,833 (GRCm39) Q95L probably benign Het
Gabrr2 A G 4: 33,081,348 (GRCm39) Y4C probably damaging Het
Ggcx G A 6: 72,395,355 (GRCm39) V149M probably damaging Het
Gm10801 T G 2: 98,494,246 (GRCm39) probably null Het
H2-M10.1 T A 17: 36,635,281 (GRCm39) Q250L possibly damaging Het
Hecw2 A T 1: 53,965,280 (GRCm39) N515K probably benign Het
Hmcn1 A T 1: 150,510,946 (GRCm39) D3592E probably damaging Het
Klf5 T A 14: 99,536,509 (GRCm39) F27I probably benign Het
Krt1 T A 15: 101,758,847 (GRCm39) S106C unknown Het
Lrrc14b T C 13: 74,511,787 (GRCm39) S98G probably benign Het
Lrrc7 A G 3: 157,866,333 (GRCm39) V1136A probably benign Het
Map3k11 G T 19: 5,752,311 (GRCm39) C831F probably benign Het
Mccc2 T C 13: 100,104,241 (GRCm39) T303A probably benign Het
Mipep T C 14: 61,046,444 (GRCm39) L322P probably damaging Het
Mob1b T A 5: 88,901,061 (GRCm39) I156K probably damaging Het
Myd88 T C 9: 119,166,882 (GRCm39) D225G possibly damaging Het
Nos1ap T C 1: 170,177,025 (GRCm39) Y126C probably damaging Het
Nuak2 G T 1: 132,259,223 (GRCm39) A342S possibly damaging Het
Or10ah1-ps1 G T 5: 143,123,152 (GRCm39) S290R probably benign Het
Or4f15 A C 2: 111,813,486 (GRCm39) M311R probably benign Het
Or7e165 T G 9: 19,695,011 (GRCm39) I194S probably benign Het
Pcdhb16 A T 18: 37,612,422 (GRCm39) I461F probably benign Het
Pcdhga10 A C 18: 37,882,534 (GRCm39) H765P probably benign Het
Plxna4 C A 6: 32,192,589 (GRCm39) D791Y probably damaging Het
Pole T G 5: 110,484,305 (GRCm39) I320M probably damaging Het
Psg23 G T 7: 18,345,966 (GRCm39) T243N probably damaging Het
Ptma-ps1 A G 7: 23,763,543 (GRCm39) noncoding transcript Het
Ptprk A T 10: 28,139,617 (GRCm39) Q114L probably benign Het
Pum1 T C 4: 130,491,393 (GRCm39) L774P probably damaging Het
Rabgef1 A G 5: 130,237,520 (GRCm39) probably benign Het
Rasef A G 4: 73,698,634 (GRCm39) V9A probably benign Het
Rcbtb1 T A 14: 59,465,804 (GRCm39) H382Q possibly damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Sacs T G 14: 61,441,836 (GRCm39) I1294R probably damaging Het
Slc19a3 A T 1: 83,000,678 (GRCm39) F113Y probably damaging Het
Snrnp48 G A 13: 38,401,365 (GRCm39) S204N possibly damaging Het
St8sia6 G A 2: 13,677,335 (GRCm39) H161Y probably benign Het
Strip2 A T 6: 29,917,074 (GRCm39) probably benign Het
Trank1 T C 9: 111,193,827 (GRCm39) V617A probably benign Het
Uvssa T A 5: 33,547,096 (GRCm39) S221T probably benign Het
Vmn2r75 A T 7: 85,813,494 (GRCm39) L436Q probably null Het
Wdfy4 T C 14: 32,769,237 (GRCm39) E2076G probably damaging Het
Zfp407 C T 18: 84,578,477 (GRCm39) V879I probably damaging Het
Zmym4 A G 4: 126,798,269 (GRCm39) I786T probably benign Het
Other mutations in Sp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Sp3 APN 2 72,768,406 (GRCm39) utr 3 prime probably benign
IGL02457:Sp3 APN 2 72,801,813 (GRCm39) missense probably damaging 1.00
R0417:Sp3 UTSW 2 72,801,845 (GRCm39) missense possibly damaging 0.57
R0539:Sp3 UTSW 2 72,800,876 (GRCm39) missense possibly damaging 0.90
R0685:Sp3 UTSW 2 72,801,342 (GRCm39) missense probably damaging 1.00
R1435:Sp3 UTSW 2 72,768,500 (GRCm39) missense possibly damaging 0.86
R1731:Sp3 UTSW 2 72,776,999 (GRCm39) missense probably damaging 0.98
R1838:Sp3 UTSW 2 72,768,520 (GRCm39) missense possibly damaging 0.66
R2283:Sp3 UTSW 2 72,801,521 (GRCm39) missense possibly damaging 0.95
R4508:Sp3 UTSW 2 72,800,741 (GRCm39) missense probably damaging 1.00
R4668:Sp3 UTSW 2 72,801,325 (GRCm39) missense probably damaging 1.00
R4896:Sp3 UTSW 2 72,768,633 (GRCm39) missense probably benign 0.18
R5004:Sp3 UTSW 2 72,768,633 (GRCm39) missense probably benign 0.18
R5381:Sp3 UTSW 2 72,800,910 (GRCm39) missense probably benign 0.17
R5493:Sp3 UTSW 2 72,768,466 (GRCm39) missense probably damaging 1.00
R5691:Sp3 UTSW 2 72,801,803 (GRCm39) missense probably damaging 1.00
R5755:Sp3 UTSW 2 72,768,725 (GRCm39) splice site silent
R6364:Sp3 UTSW 2 72,801,285 (GRCm39) missense probably benign 0.00
R6640:Sp3 UTSW 2 72,801,458 (GRCm39) missense possibly damaging 0.61
R7197:Sp3 UTSW 2 72,809,953 (GRCm39) missense probably benign 0.08
R7699:Sp3 UTSW 2 72,801,573 (GRCm39) missense probably benign
R8004:Sp3 UTSW 2 72,800,552 (GRCm39) missense possibly damaging 0.52
R8467:Sp3 UTSW 2 72,801,482 (GRCm39) missense possibly damaging 0.94
R8503:Sp3 UTSW 2 72,768,645 (GRCm39) missense probably benign 0.05
R8861:Sp3 UTSW 2 72,801,630 (GRCm39) missense probably damaging 1.00
Z1176:Sp3 UTSW 2 72,800,511 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- ACAATCTCCGGAAAGCGCG -3'
(R):5'- GGAAATGGCTGCCTTGGAC -3'

Sequencing Primer
(F):5'- CGAGCGAGCAGGGAAGC -3'
(R):5'- CAAGTGTGCGCGCCCTC -3'
Posted On 2015-12-01