Incidental Mutation 'R0130:Sp4'
ID 50116
Institutional Source Beutler Lab
Gene Symbol Sp4
Ensembl Gene ENSMUSG00000025323
Gene Name trans-acting transcription factor 4
Synonyms 5730497N03Rik, HF1-b, HF-1b
MMRRC Submission 038415-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R0130 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 12
Chromosomal Location 118198668-118265175 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 118264551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026367] [ENSMUST00000221844] [ENSMUST00000222314]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026367
SMART Domains Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
low complexity region 76 90 N/A INTRINSIC
low complexity region 120 146 N/A INTRINSIC
internal_repeat_1 157 255 4.15e-6 PROSPERO
internal_repeat_2 203 265 5.92e-5 PROSPERO
low complexity region 272 296 N/A INTRINSIC
low complexity region 300 342 N/A INTRINSIC
low complexity region 364 378 N/A INTRINSIC
low complexity region 392 421 N/A INTRINSIC
low complexity region 424 445 N/A INTRINSIC
internal_repeat_2 451 506 5.92e-5 PROSPERO
internal_repeat_1 461 539 4.15e-6 PROSPERO
low complexity region 540 549 N/A INTRINSIC
low complexity region 556 570 N/A INTRINSIC
low complexity region 595 607 N/A INTRINSIC
low complexity region 629 638 N/A INTRINSIC
ZnF_C2H2 645 669 2.82e0 SMART
ZnF_C2H2 675 699 7.37e-4 SMART
ZnF_C2H2 705 727 1.47e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000221844
Predicted Effect probably benign
Transcript: ENSMUST00000222314
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.7%
  • 10x: 93.4%
  • 20x: 80.2%
Validation Efficiency 99% (84/85)
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 transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac arrhythmias and most die shortly after birth. Surviving males complete spermatogenesis but do not copulate, while females show delayed sexual maturation and reduction in spleen, thymus, and uterus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A T 17: 84,994,094 (GRCm39) Y37F probably damaging Het
Ablim2 G A 5: 35,966,520 (GRCm39) probably benign Het
Anxa9 A G 3: 95,209,733 (GRCm39) S129P probably benign Het
Apol7c A G 15: 77,410,562 (GRCm39) I128T possibly damaging Het
Arfgef2 T G 2: 166,677,639 (GRCm39) I88S probably damaging Het
Arfip2 A G 7: 105,288,205 (GRCm39) probably benign Het
Atp5mf A T 5: 145,124,992 (GRCm39) probably benign Het
Atp7b C T 8: 22,518,188 (GRCm39) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm39) probably null Het
Cd22 A G 7: 30,569,389 (GRCm39) Y402H possibly damaging Het
Cd248 A G 19: 5,119,990 (GRCm39) T613A probably benign Het
Cdcp2 C T 4: 106,963,904 (GRCm39) probably benign Het
Cenpc1 A T 5: 86,194,405 (GRCm39) D120E probably benign Het
Chd3 T A 11: 69,250,656 (GRCm39) H691L probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cped1 T A 6: 22,121,038 (GRCm39) Y373N probably benign Het
Cr2 A T 1: 194,848,539 (GRCm39) V328D probably damaging Het
Ctnnd2 A T 15: 30,922,059 (GRCm39) E895V probably damaging Het
D630045J12Rik A T 6: 38,126,706 (GRCm39) probably benign Het
Dcdc2a A T 13: 25,371,655 (GRCm39) probably benign Het
Dync1h1 C A 12: 110,585,108 (GRCm39) T837K probably benign Het
Eif2ak3 C A 6: 70,858,716 (GRCm39) probably benign Het
Epb41l5 A C 1: 119,477,632 (GRCm39) V705G possibly damaging Het
Fat2 T A 11: 55,142,944 (GRCm39) M4302L probably benign Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,608,903 (GRCm39) Y928H probably damaging Het
Fyn C T 10: 39,387,978 (GRCm39) T78M probably benign Het
Gdap2 A G 3: 100,109,311 (GRCm39) T443A probably damaging Het
Gde1 A T 7: 118,294,283 (GRCm39) F63L probably benign Het
Gjc3 A G 5: 137,956,202 (GRCm39) S28P probably benign Het
Gm10250 G A 15: 5,150,473 (GRCm39) probably null Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Klhl23 T C 2: 69,664,310 (GRCm39) V553A probably damaging Het
Lman2l G T 1: 36,463,945 (GRCm39) S171* probably null Het
Lrp1b T C 2: 41,401,520 (GRCm39) D378G probably damaging Het
Map3k11 T C 19: 5,740,843 (GRCm39) L190P probably damaging Het
Mki67 T A 7: 135,298,188 (GRCm39) Q2282L probably damaging Het
Mthfd2 T A 6: 83,285,990 (GRCm39) I272F probably damaging Het
Myom1 A T 17: 71,352,750 (GRCm39) D358V probably damaging Het
Nebl T C 2: 17,395,737 (GRCm39) probably benign Het
Nebl T A 2: 17,397,834 (GRCm39) Q487H possibly damaging Het
Nlrp2 T A 7: 5,325,417 (GRCm39) N14Y possibly damaging Het
Or14a258 T C 7: 86,035,514 (GRCm39) Y118C probably damaging Het
Or1j11 T A 2: 36,312,299 (GRCm39) D296E probably benign Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5ak22 T A 2: 85,230,305 (GRCm39) S191C probably damaging Het
Or8k40 T C 2: 86,584,231 (GRCm39) M284V probably benign Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Paxip1 C T 5: 27,949,183 (GRCm39) probably benign Het
Pclo A G 5: 14,729,811 (GRCm39) probably benign Het
Pld2 T G 11: 70,445,174 (GRCm39) N591K probably benign Het
Plekha7 A G 7: 115,769,939 (GRCm39) M276T probably damaging Het
Prss39 T A 1: 34,541,281 (GRCm39) probably benign Het
Prtg A G 9: 72,716,998 (GRCm39) Y113C probably damaging Het
Rab38 T A 7: 88,099,749 (GRCm39) I88N probably damaging Het
Rbfox2 A G 15: 76,976,057 (GRCm39) probably benign Het
Samd5 A G 10: 9,550,683 (GRCm39) W9R probably damaging Het
Sec14l1 A T 11: 117,047,233 (GRCm39) K637I possibly damaging Het
Sh2b1 A T 7: 126,070,620 (GRCm39) D360E possibly damaging Het
Sh3bp4 A G 1: 89,073,036 (GRCm39) N628S possibly damaging Het
Sim1 A T 10: 50,784,057 (GRCm39) I104F probably damaging Het
Smcp T A 3: 92,491,827 (GRCm39) T7S unknown Het
Tectb G T 19: 55,170,393 (GRCm39) K81N probably damaging Het
Thbs4 G T 13: 92,890,918 (GRCm39) H850N probably benign Het
Tiam1 T C 16: 89,694,642 (GRCm39) M272V probably benign Het
Trav13-3 T A 14: 53,967,233 (GRCm39) noncoding transcript Het
Ubap2l A T 3: 89,928,680 (GRCm39) S478T possibly damaging Het
Vmn2r85 A G 10: 130,255,054 (GRCm39) probably benign Het
Other mutations in Sp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02103:Sp4 APN 12 118,263,284 (GRCm39) missense probably damaging 0.99
IGL02817:Sp4 APN 12 118,263,287 (GRCm39) missense probably damaging 1.00
IGL02833:Sp4 APN 12 118,225,616 (GRCm39) missense probably benign 0.05
Deadloss UTSW 12 118,218,174 (GRCm39) missense possibly damaging 0.82
Speck UTSW 12 118,264,546 (GRCm39) splice site probably null
R0128:Sp4 UTSW 12 118,264,551 (GRCm39) splice site probably benign
R0398:Sp4 UTSW 12 118,262,408 (GRCm39) missense possibly damaging 0.79
R0626:Sp4 UTSW 12 118,263,314 (GRCm39) missense probably damaging 1.00
R1193:Sp4 UTSW 12 118,262,981 (GRCm39) missense possibly damaging 0.94
R1775:Sp4 UTSW 12 118,263,335 (GRCm39) missense probably damaging 0.99
R4724:Sp4 UTSW 12 118,225,544 (GRCm39) missense probably benign
R4861:Sp4 UTSW 12 118,264,546 (GRCm39) splice site probably null
R4861:Sp4 UTSW 12 118,264,546 (GRCm39) splice site probably null
R4969:Sp4 UTSW 12 118,263,341 (GRCm39) missense probably damaging 0.96
R5049:Sp4 UTSW 12 118,218,207 (GRCm39) missense probably benign 0.04
R5178:Sp4 UTSW 12 118,225,624 (GRCm39) missense possibly damaging 0.46
R5208:Sp4 UTSW 12 118,263,281 (GRCm39) missense probably damaging 1.00
R5722:Sp4 UTSW 12 118,262,976 (GRCm39) missense possibly damaging 0.66
R6318:Sp4 UTSW 12 118,201,913 (GRCm39) missense probably damaging 1.00
R6619:Sp4 UTSW 12 118,263,077 (GRCm39) missense possibly damaging 0.92
R6917:Sp4 UTSW 12 118,262,908 (GRCm39) missense probably damaging 1.00
R7195:Sp4 UTSW 12 118,263,807 (GRCm39) missense possibly damaging 0.92
R7614:Sp4 UTSW 12 118,218,174 (GRCm39) missense possibly damaging 0.82
R7747:Sp4 UTSW 12 118,218,139 (GRCm39) splice site probably null
R7983:Sp4 UTSW 12 118,264,967 (GRCm39) start codon destroyed probably null
R8709:Sp4 UTSW 12 118,263,189 (GRCm39) missense possibly damaging 0.66
R8817:Sp4 UTSW 12 118,225,624 (GRCm39) missense possibly damaging 0.92
R9436:Sp4 UTSW 12 118,202,000 (GRCm39) missense possibly damaging 0.82
R9487:Sp4 UTSW 12 118,262,859 (GRCm39) missense probably benign 0.05
R9595:Sp4 UTSW 12 118,262,690 (GRCm39) missense possibly damaging 0.46
Z1177:Sp4 UTSW 12 118,263,794 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- CGGATTTAGTGGAAGACAGCAGTCG -3'
(R):5'- GGTCGGGTTTCAAACCACGTTTC -3'

Sequencing Primer
(F):5'- TAGCCTCAACGATGGGAAATCTTC -3'
(R):5'- TCGTGAGAGccccctcc -3'
Posted On 2013-06-12