Incidental Mutation 'R5493:Sp3'
ID432150
Institutional Source Beutler Lab
Gene Symbol Sp3
Ensembl Gene ENSMUSG00000027109
Gene Nametrans-acting transcription factor 3
Synonyms
MMRRC Submission 043054-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5493 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location72936427-72980446 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72938122 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Tyrosine at position 766 (N766Y)
Ref Sequence ENSEMBL: ENSMUSP00000099750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066003] [ENSMUST00000102689]
Predicted Effect probably damaging
Transcript: ENSMUST00000066003
AA Change: N722Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: N722Y

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 damaging
Transcript: ENSMUST00000102689
AA Change: N766Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: N766Y

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 noncoding transcript
Transcript: ENSMUST00000129565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133615
Meta Mutation Damage Score 0.372 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (80/81)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik A G 16: 21,653,243 S236P possibly damaging Het
A830018L16Rik C T 1: 11,545,207 R135C probably damaging Het
Agpat3 A G 10: 78,284,235 V155A possibly damaging Het
Aldh18a1 C T 19: 40,551,290 R747Q probably damaging Het
Aloxe3 A T 11: 69,128,617 R119* probably null Het
Asap1 A G 15: 64,130,151 V460A possibly damaging Het
Bicral C A 17: 46,801,694 R860L possibly damaging Het
Cd180 T A 13: 102,706,141 I565N probably benign Het
Cdk13 T C 13: 17,803,562 probably benign Het
Cdkn2d T C 9: 21,289,007 D156G probably benign Het
Clrn1 A G 3: 58,846,416 S175P probably damaging Het
Coro7 A G 16: 4,632,487 L535S probably damaging Het
Cse1l A G 2: 166,941,190 probably benign Het
Cyp2a12 T C 7: 27,029,125 L7P unknown Het
D130043K22Rik A G 13: 24,863,603 Y377C probably damaging Het
Dctn1 G T 6: 83,182,564 R8L possibly damaging Het
Duox2 T C 2: 122,281,496 Q1341R probably damaging Het
Eif2b3 A G 4: 117,086,722 D447G possibly damaging Het
Fbxw25 T C 9: 109,652,916 Y234C probably benign Het
Gcnt2 A G 13: 40,953,600 N315S possibly damaging Het
Gm20730 A T 6: 43,081,812 V22E possibly damaging Het
Gm4847 T A 1: 166,630,321 I488F probably damaging Het
Gm8994 C G 6: 136,329,557 R339G probably damaging Het
Gmds A T 13: 31,940,505 M290K probably benign Het
Gtf3c1 T C 7: 125,670,544 N699S probably damaging Het
Hk3 A G 13: 55,011,171 V479A probably damaging Het
Ifnlr1 G A 4: 135,705,566 V438M probably benign Het
Il12rb1 C A 8: 70,809,839 P26T probably benign Het
Il4i1 G T 7: 44,840,053 R414L possibly damaging Het
Ipo4 T C 14: 55,630,870 N490S probably benign Het
Kcnmb2 A G 3: 32,198,142 E164G probably damaging Het
Kcns1 G A 2: 164,167,979 L287F probably benign Het
Kdm1a ACC AC 4: 136,557,421 probably null Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Knl1 T A 2: 119,068,730 I304K probably damaging Het
Ksr2 G T 5: 117,708,110 V681F probably damaging Het
Lypd2 T C 15: 74,734,278 T4A probably benign Het
Man1a A G 10: 54,074,480 V182A probably benign Het
Olfr1364 A T 13: 21,573,872 C195S probably damaging Het
Olfr504 T C 7: 108,565,567 D76G probably benign Het
Olfr533 A T 7: 140,466,807 D202V probably damaging Het
Olfr561 A T 7: 102,775,108 R195W probably benign Het
Olfr70 A G 4: 43,696,225 F316S possibly damaging Het
Pcdha2 C A 18: 36,939,509 F64L probably damaging Het
Pgap3 G C 11: 98,390,714 F168L possibly damaging Het
Pip5k1b T C 19: 24,439,075 N16S probably benign Het
Ppip5k1 T A 2: 121,336,772 H41L probably damaging Het
Ppp1r9a A G 6: 5,159,702 R1080G probably damaging Het
Qrich2 A C 11: 116,445,948 probably null Het
Rbl2 C T 8: 91,115,819 P1034L probably damaging Het
Rbpjl GCC GC 2: 164,414,410 probably null Het
Rin2 A G 2: 145,860,709 S442G probably damaging Het
Rtca C T 3: 116,499,631 R71Q probably benign Het
Serpind1 A T 16: 17,340,038 N366I probably damaging Het
Shox2 C G 3: 66,981,463 G32R probably damaging Het
Spag7 T A 11: 70,669,233 S17C probably null Het
Stk25 A T 1: 93,635,309 F7I probably benign Het
Tbx15 G A 3: 99,352,564 G584S probably benign Het
Tenm2 T C 11: 36,864,676 D165G probably benign Het
Tox2 C A 2: 163,204,729 S42* probably null Het
Vmn1r39 A G 6: 66,804,770 V188A probably damaging Het
Zbtb5 A T 4: 44,993,941 M481K probably benign Het
Zfp26 T C 9: 20,444,319 T56A possibly damaging Het
Zfp459 C A 13: 67,408,379 C195F probably damaging Het
Zfp703 C T 8: 26,979,205 P299L probably damaging Het
Zfp764 A G 7: 127,404,933 I342T probably benign Het
Zfp942 T C 17: 21,933,004 N7D probably null Het
Other mutations in Sp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Sp3 APN 2 72938062 utr 3 prime probably benign
IGL02457:Sp3 APN 2 72971469 missense probably damaging 1.00
R0417:Sp3 UTSW 2 72971501 missense possibly damaging 0.57
R0539:Sp3 UTSW 2 72970532 missense possibly damaging 0.90
R0685:Sp3 UTSW 2 72970998 missense probably damaging 1.00
R1435:Sp3 UTSW 2 72938156 missense possibly damaging 0.86
R1731:Sp3 UTSW 2 72946655 missense probably damaging 0.98
R1838:Sp3 UTSW 2 72938176 missense possibly damaging 0.66
R2283:Sp3 UTSW 2 72971177 missense possibly damaging 0.95
R3892:Sp3 UTSW 2 72979032 intron probably benign
R4508:Sp3 UTSW 2 72970397 missense probably damaging 1.00
R4668:Sp3 UTSW 2 72970981 missense probably damaging 1.00
R4896:Sp3 UTSW 2 72938289 missense probably benign 0.18
R5004:Sp3 UTSW 2 72938289 missense probably benign 0.18
R5381:Sp3 UTSW 2 72970566 missense probably benign 0.17
R5691:Sp3 UTSW 2 72971459 missense probably damaging 1.00
R5755:Sp3 UTSW 2 72938381 splice site silent
R6364:Sp3 UTSW 2 72970941 missense probably benign 0.00
R6640:Sp3 UTSW 2 72971114 missense possibly damaging 0.61
R7197:Sp3 UTSW 2 72979609 missense probably benign 0.08
Predicted Primers PCR Primer
(F):5'- GGCATTTCAGTGTCATGTATAACC -3'
(R):5'- TTATGAGAAGTGACCACCTTGCC -3'

Sequencing Primer
(F):5'- GTGTCATGTATAACCAAGTTACTGTC -3'
(R):5'- GACCACCTTGCCAAACATATTAAAAC -3'
Posted On2016-10-05