Incidental Mutation 'R6364:Sp3'
ID 513379
Institutional Source Beutler Lab
Gene Symbol Sp3
Ensembl Gene ENSMUSG00000027109
Gene Name trans-acting transcription factor 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R6364 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 72936427-72980446 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72970941 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 243 (T243A)
Ref Sequence ENSEMBL: ENSMUSP00000065807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066003] [ENSMUST00000102689] [ENSMUST00000112062]
AlphaFold O70494
Predicted Effect probably benign
Transcript: ENSMUST00000066003
AA Change: T243A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000065807
Gene: ENSMUSG00000027109
AA Change: T243A

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
AA Change: T287A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099750
Gene: ENSMUSG00000027109
AA Change: T287A

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: ENSMUST00000133615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141372
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.8%
Validation Efficiency 99% (69/70)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,721,814 Y234C possibly damaging Het
Als2cr12 G T 1: 58,658,372 A403D probably damaging Het
Ambra1 C A 2: 91,773,316 H548Q possibly damaging Het
Ap3d1 T C 10: 80,710,494 probably null Het
Apol11b A G 15: 77,638,058 V13A possibly damaging Het
Arhgdib C T 6: 136,932,255 probably null Het
B3galt1 T A 2: 68,118,672 S244T probably damaging Het
Bace2 A G 16: 97,413,433 I274V probably benign Het
Bfsp2 A T 9: 103,448,628 V272D probably damaging Het
Blm A T 7: 80,494,526 C782* probably null Het
Cfi G A 3: 129,872,846 S406N probably benign Het
Chd1l G A 3: 97,587,167 A399V probably damaging Het
Cic C A 7: 25,272,823 H660N possibly damaging Het
Cops3 A G 11: 59,835,404 probably benign Het
Dlec1 G A 9: 119,121,871 V502I possibly damaging Het
Epop A G 11: 97,628,687 S199P probably benign Het
Evi5 G T 5: 107,842,113 P80Q probably damaging Het
Faf1 T C 4: 109,961,800 V623A possibly damaging Het
Fam129c G A 8: 71,599,089 G23S probably benign Het
Fam83c T C 2: 155,834,523 D109G probably damaging Het
Fam83d T C 2: 158,783,259 probably null Het
Foxn3 T C 12: 99,388,693 N71D probably benign Het
Gm7298 A G 6: 121,779,443 R1016G possibly damaging Het
Grin2d T C 7: 45,858,454 E396G possibly damaging Het
Htra2 C A 6: 83,053,046 V311F probably damaging Het
Kif6 A T 17: 49,620,623 T33S probably benign Het
Kmt2c T C 5: 25,309,636 I3070V probably null Het
Krtap5-2 A T 7: 142,175,063 C293* probably null Het
Lrp3 T A 7: 35,203,709 D404V probably benign Het
Mc2r T G 18: 68,407,536 I229L probably benign Het
Mtnr1b A G 9: 15,863,004 M253T possibly damaging Het
Nfat5 A G 8: 107,368,277 N531S probably benign Het
Npr2 T A 4: 43,643,622 I550N probably damaging Het
Npy6r T C 18: 44,276,511 I333T possibly damaging Het
Nup88 C T 11: 70,947,786 R468Q probably benign Het
Nup98 G A 7: 102,176,315 T422I probably damaging Het
Olfr433 T A 1: 174,042,212 H87Q possibly damaging Het
Oraov1 A G 7: 144,919,268 D105G probably benign Het
Otud4 A G 8: 79,646,341 N96S probably damaging Het
Paqr6 T C 3: 88,365,958 F86L probably damaging Het
Ppp4r3b A T 11: 29,188,035 T90S probably benign Het
Ptbp2 A T 3: 119,740,442 N23K probably damaging Het
Ralgapb G T 2: 158,462,109 G596V probably damaging Het
Rdm1 G A 11: 101,630,242 R94H probably benign Het
Rergl A T 6: 139,500,748 F28I probably damaging Het
Rif1 G T 2: 52,107,669 S1000I probably damaging Het
Rnf141 C T 7: 110,821,309 A163T possibly damaging Het
Scaf4 G A 16: 90,260,248 Q72* probably null Het
Sdk1 G T 5: 141,962,709 S603I probably benign Het
Sdsl T C 5: 120,460,609 I147M probably damaging Het
Serpina6 T C 12: 103,654,236 N85D probably benign Het
Serpinf2 A G 11: 75,436,489 I204T probably damaging Het
Shank2 A G 7: 144,410,409 S795G probably benign Het
Simc1 C T 13: 54,524,600 Q254* probably null Het
Slc30a3 G A 5: 31,088,739 P216S possibly damaging Het
Smim14 T A 5: 65,453,296 I53F probably benign Het
Srpk2 A G 5: 23,540,467 F164L probably damaging Het
Stard9 T C 2: 120,713,429 F4403L probably damaging Het
Tbc1d30 T C 10: 121,294,725 T267A possibly damaging Het
Tgm7 T A 2: 121,096,397 R424* probably null Het
Tmbim6 T C 15: 99,406,185 L113P probably damaging Het
Tmcc1 G A 6: 116,043,761 probably benign Het
Tomm7 A G 5: 23,844,030 L15P probably damaging Het
Tpcn1 T C 5: 120,553,810 Y263C probably damaging Het
Trim34b T C 7: 104,336,526 F456S probably damaging Het
Uox C T 3: 146,624,577 R163* probably null Het
Vmn2r108 A G 17: 20,470,998 I421T probably benign Het
Wdr43 A G 17: 71,657,654 E676G probably damaging Het
Wdr60 A T 12: 116,241,732 D412E probably damaging Het
Zcchc14 G T 8: 121,604,859 probably benign Het
Zfp64 C A 2: 168,912,266 G25V probably damaging Het
Zswim8 C A 14: 20,713,011 P326H probably damaging 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
R5493:Sp3 UTSW 2 72938122 missense probably damaging 1.00
R5691:Sp3 UTSW 2 72971459 missense probably damaging 1.00
R5755:Sp3 UTSW 2 72938381 splice site silent
R6640:Sp3 UTSW 2 72971114 missense possibly damaging 0.61
R7197:Sp3 UTSW 2 72979609 missense probably benign 0.08
R7699:Sp3 UTSW 2 72971229 missense probably benign
R8004:Sp3 UTSW 2 72970208 missense possibly damaging 0.52
R8467:Sp3 UTSW 2 72971138 missense possibly damaging 0.94
R8503:Sp3 UTSW 2 72938301 missense probably benign 0.05
R8861:Sp3 UTSW 2 72971286 missense probably damaging 1.00
Z1176:Sp3 UTSW 2 72970167 missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- ACCTGTACTATCTATTGTAACAGGC -3'
(R):5'- CAAACCTTACTCGCCTCTGG -3'

Sequencing Primer
(F):5'- CAACTGTGATGAAGAGGATGTTGGC -3'
(R):5'- TGGAACACCTCCTGCTAATATC -3'
Posted On 2018-04-27