Incidental Mutation 'IGL02412:Yy1'
ID294413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yy1
Ensembl Gene ENSMUSG00000021264
Gene NameYY1 transcription factor
SynonymsNF-E1, UCRBP transcription factor, Yin Yang 1, delta transcription factor
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02412
Quality Score
Status
Chromosome12
Chromosomal Location108792973-108820148 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 108794097 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021692]
Predicted Effect probably benign
Transcript: ENSMUST00000021692
SMART Domains Protein: ENSMUSP00000021692
Gene: ENSMUSG00000021264

DomainStartEndE-ValueType
low complexity region 25 41 N/A INTRINSIC
low complexity region 42 82 N/A INTRINSIC
low complexity region 156 204 N/A INTRINSIC
PDB:4C5I|C 205 228 8e-9 PDB
low complexity region 257 273 N/A INTRINSIC
ZnF_C2H2 296 320 1.03e-2 SMART
ZnF_C2H2 325 347 2.2e-2 SMART
ZnF_C2H2 353 377 9.08e-4 SMART
ZnF_C2H2 383 407 9.88e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223001
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters. YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die in utero shortly after implantation. Incomplete penetrance of embryonic growth retardation and exencephaly are observed in haploinsufficient mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,628,872 F2032L possibly damaging Het
Caps2 T C 10: 112,204,036 probably null Het
Ccdc88b A T 19: 6,846,644 F1414I probably damaging Het
Cr1l C T 1: 195,114,766 G283E probably damaging Het
Cr1l T G 1: 195,114,772 Y319S probably damaging Het
Csmd2 G A 4: 128,513,372 probably benign Het
Dhx37 T A 5: 125,431,628 K81M probably damaging Het
Dzip3 T A 16: 48,958,457 M326L probably benign Het
Exosc10 A G 4: 148,568,392 D488G probably benign Het
Gm2058 G A 7: 39,589,033 noncoding transcript Het
Gm43638 T A 5: 87,486,136 Q204L possibly damaging Het
Gm4847 T C 1: 166,641,738 D119G probably damaging Het
Gnb3 A C 6: 124,837,462 M120R probably benign Het
Il16 A C 7: 83,652,691 D74E probably benign Het
Kpna1 T C 16: 36,031,191 F382L probably benign Het
Krt33a G T 11: 100,011,979 Q340K probably benign Het
Lrrc17 T A 5: 21,560,879 S120T possibly damaging Het
Mapk3 C A 7: 126,763,038 Y56* probably null Het
Mfhas1 C T 8: 35,588,815 A148V probably benign Het
Npr2 A G 4: 43,647,005 I713V probably damaging Het
Obp1a T A X: 78,088,374 Y108F probably damaging Het
Olfr18 T A 9: 20,314,639 S86C probably benign Het
Olfr203 T A 16: 59,303,192 L13H probably damaging Het
Olfr429 T C 1: 174,089,243 F68L probably benign Het
Olfr583 A T 7: 103,052,152 M285L probably benign Het
Pias1 A T 9: 62,893,139 N430K probably benign Het
Ralgapa2 G T 2: 146,412,132 A836D probably damaging Het
Rftn2 T C 1: 55,206,338 E238G probably benign Het
Samt4 T G X: 154,484,122 S86A probably damaging Het
Setd2 T C 9: 110,550,774 M1219T probably benign Het
Sh3pxd2b T A 11: 32,387,992 D99E probably damaging Het
Sh3rf1 A T 8: 61,372,689 T573S probably benign Het
Sugct A G 13: 17,662,801 W82R probably damaging Het
Syt4 T G 18: 31,443,843 K153Q probably benign Het
Tbrg1 T C 9: 37,652,612 probably null Het
Tex36 C T 7: 133,587,408 R145K probably benign Het
Tfap2b A T 1: 19,219,203 D166V probably damaging Het
Trhde T C 10: 114,486,925 Y694C probably damaging Het
Trpc1 G A 9: 95,736,861 L146F probably damaging Het
Ttc29 G A 8: 78,276,940 E262K possibly damaging Het
Ttn G T 2: 76,782,347 D17129E probably benign Het
Ttn A T 2: 76,716,949 I32251N probably damaging Het
Ucma T A 2: 4,976,825 I47N probably damaging Het
Vmn1r13 A T 6: 57,210,489 K211M possibly damaging Het
Vmn2r95 A C 17: 18,439,956 H210P probably damaging Het
Xpc T C 6: 91,499,785 E444G probably benign Het
Zfp217 A G 2: 170,112,502 probably benign Het
Zfp318 T A 17: 46,409,117 Y1080* probably null Het
Other mutations in Yy1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00780:Yy1 APN 12 108815537 missense probably damaging 1.00
IGL02158:Yy1 APN 12 108814599 splice site probably benign
IGL02223:Yy1 APN 12 108793540 missense unknown
IGL02718:Yy1 APN 12 108815479 missense probably damaging 1.00
R1023:Yy1 UTSW 12 108793531 missense unknown
R1341:Yy1 UTSW 12 108793519 missense unknown
R1855:Yy1 UTSW 12 108793990 small insertion probably benign
R1989:Yy1 UTSW 12 108806608 missense probably damaging 1.00
R2022:Yy1 UTSW 12 108793990 small insertion probably benign
R4566:Yy1 UTSW 12 108812963 missense probably damaging 0.98
R4717:Yy1 UTSW 12 108794046 missense possibly damaging 0.50
R5041:Yy1 UTSW 12 108793631 small insertion probably benign
R5089:Yy1 UTSW 12 108793737 missense probably damaging 1.00
R5597:Yy1 UTSW 12 108815510 missense probably damaging 1.00
R5907:Yy1 UTSW 12 108806428 intron probably benign
R6876:Yy1 UTSW 12 108806592 missense probably benign 0.13
R6878:Yy1 UTSW 12 108814756 missense probably damaging 1.00
R6923:Yy1 UTSW 12 108793668 missense probably benign 0.28
Posted On2015-04-16