Incidental Mutation 'R5049:Sp4'
ID 394545
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 042639-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.525) question?
Stock # R5049 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 118198668-118265175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118218207 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 680 (M680K)
Ref Sequence ENSEMBL: ENSMUSP00000152603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026367] [ENSMUST00000222314]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000026367
AA Change: M678K

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000026367
Gene: ENSMUSG00000025323
AA Change: M678K

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: ENSMUST00000222314
AA Change: M680K

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
Meta Mutation Damage Score 0.1033 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 95.8%
  • 20x: 90.4%
Validation Efficiency 97% (89/92)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,321,698 (GRCm39) S76P probably damaging Het
Acot8 A G 2: 164,641,610 (GRCm39) probably benign Het
Angptl7 A G 4: 148,582,468 (GRCm39) F143L probably benign Het
Atxn7l1 A G 12: 33,408,686 (GRCm39) T283A probably benign Het
Bltp1 T A 3: 37,094,655 (GRCm39) probably benign Het
Bltp1 T C 3: 37,095,539 (GRCm39) M1016T probably damaging Het
Brd3 G T 2: 27,340,589 (GRCm39) probably benign Het
C130026L21Rik T A 5: 111,729,702 (GRCm39) noncoding transcript Het
Cbr4 T G 8: 61,948,238 (GRCm39) probably null Het
Ccl19 A G 4: 42,756,268 (GRCm39) probably null Het
Ccl2 G T 11: 81,927,333 (GRCm39) C34F probably damaging Het
Dnah12 A T 14: 26,456,852 (GRCm39) T873S probably benign Het
Dnah2 T C 11: 69,338,992 (GRCm39) N3118S probably damaging Het
Elapor2 A G 5: 9,478,488 (GRCm39) T451A probably damaging Het
Epb41l1 C A 2: 156,366,859 (GRCm39) P564Q possibly damaging Het
Extl3 A T 14: 65,313,481 (GRCm39) M567K probably benign Het
Fhip2a T C 19: 57,374,737 (GRCm39) I704T possibly damaging Het
Foxf2 T C 13: 31,811,158 (GRCm39) S366P probably benign Het
Gamt T A 10: 80,094,788 (GRCm39) T186S probably benign Het
Gcn1 T A 5: 115,744,730 (GRCm39) M1642K probably damaging Het
Gm21738 T A 14: 19,415,957 (GRCm38) Y194F probably benign Het
Golga1 A T 2: 38,937,747 (GRCm39) M115K probably damaging Het
Hapstr1 T A 16: 8,661,073 (GRCm39) D183E probably damaging Het
Herc3 A G 6: 58,871,524 (GRCm39) probably null Het
Hes2 C A 4: 152,244,331 (GRCm39) L39I possibly damaging Het
Hopx C A 5: 77,242,899 (GRCm39) probably benign Het
Idi1 C T 13: 8,938,078 (GRCm39) P175S probably damaging Het
Ifit1bl1 A T 19: 34,571,481 (GRCm39) C325* probably null Het
Ighv7-3 T C 12: 114,116,953 (GRCm39) I70V probably benign Het
Kcnq3 T C 15: 66,157,746 (GRCm39) T110A probably benign Het
Kif5a T C 10: 127,075,708 (GRCm39) D451G possibly damaging Het
Lama3 A G 18: 12,715,668 (GRCm39) E1708G probably benign Het
Lrriq4 T A 3: 30,705,086 (GRCm39) D371E probably damaging Het
Lyst T A 13: 13,810,649 (GRCm39) V773E probably damaging Het
Map4 T A 9: 109,908,882 (GRCm39) L23* probably null Het
Mapkbp1 G T 2: 119,845,982 (GRCm39) probably benign Het
Mrpl30 A T 1: 37,936,791 (GRCm39) D52V possibly damaging Het
Or10ag57 A T 2: 87,219,002 (GRCm39) T318S probably benign Het
Or13j1 A T 4: 43,706,259 (GRCm39) L103Q probably damaging Het
Pard3b T A 1: 62,200,320 (GRCm39) H286Q probably benign Het
Parp4 A G 14: 56,873,188 (GRCm39) K1144R possibly damaging Het
Pdcd11 C A 19: 47,095,554 (GRCm39) S625R probably benign Het
Pkhd1l1 T C 15: 44,321,012 (GRCm39) S22P probably benign Het
Prss32 A T 17: 24,078,221 (GRCm39) E302D possibly damaging Het
Prss45 A G 9: 110,669,538 (GRCm39) K205E probably damaging Het
Puf60 T A 15: 75,942,323 (GRCm39) I500F probably damaging Het
Ryr3 A T 2: 112,470,516 (GRCm39) I4623N probably damaging Het
Sh3bp5l T A 11: 58,228,950 (GRCm39) probably benign Het
Slc3a1 T G 17: 85,340,273 (GRCm39) Y232D probably damaging Het
Slc8a3 A G 12: 81,260,906 (GRCm39) Y608H probably damaging Het
Socs7 G T 11: 97,269,469 (GRCm39) R429L probably benign Het
Sorcs3 C A 19: 48,748,390 (GRCm39) N786K possibly damaging Het
Tas2r131 T C 6: 132,934,540 (GRCm39) T90A probably damaging Het
Tasor2 A T 13: 3,624,000 (GRCm39) H1983Q probably benign Het
Tbx21 T C 11: 97,005,536 (GRCm39) H143R probably benign Het
Tg T A 15: 66,699,231 (GRCm39) C833* probably null Het
Tmem245 A G 4: 56,925,057 (GRCm39) S355P probably benign Het
Tmem86b G A 7: 4,631,465 (GRCm39) P191S possibly damaging Het
Tnc A G 4: 63,936,223 (GRCm39) C238R probably damaging Het
Tnn T A 1: 159,968,308 (GRCm39) E361D probably benign Het
Tpp2 T C 1: 44,040,633 (GRCm39) V298A possibly damaging Het
Trav7-6 A G 14: 53,954,536 (GRCm39) N22S probably damaging Het
Trim75 T C 8: 65,435,091 (GRCm39) probably null Het
Trrap T A 5: 144,763,527 (GRCm39) I2492N probably damaging Het
Ufl1 G T 4: 25,254,773 (GRCm39) A561E probably benign Het
Uqcc1 A G 2: 155,752,341 (GRCm39) V86A probably damaging Het
Vmn1r184 A G 7: 25,966,793 (GRCm39) I180V possibly damaging Het
Vmn1r185 A G 7: 26,310,920 (GRCm39) F195S possibly damaging Het
Vmn2r4 A C 3: 64,306,019 (GRCm39) probably null Het
Vmn2r87 T C 10: 130,308,298 (GRCm39) T647A probably damaging Het
Vps13d A T 4: 144,813,336 (GRCm39) H198Q probably damaging Het
Wdfy4 T C 14: 32,874,627 (GRCm39) T154A possibly damaging Het
Xirp2 A G 2: 67,347,478 (GRCm39) M3240V probably benign Het
Zfp101 T C 17: 33,600,872 (GRCm39) R295G possibly damaging Het
Zfp619 G A 7: 39,184,938 (GRCm39) V323I probably benign Het
Zfy1 A T Y: 726,004 (GRCm39) I587N possibly damaging Het
Zswim6 C T 13: 107,863,110 (GRCm39) noncoding transcript 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
R0130: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
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'- TTCCAGGCCATATAAATCTGGTG -3'
(R):5'- TTGGCACAGATAGAAGCTGAGTTTAG -3'

Sequencing Primer
(F):5'- CAAGGCATCTTGACCTTC -3'
(R):5'- TAGAAGCTGAGTTTAGGGTATAATGG -3'
Posted On 2016-06-15