Incidental Mutation 'IGL00823:Yy2'
ID11924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yy2
Ensembl Gene ENSMUSG00000091736
Gene NameYy2 transcription factor
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL00823
Quality Score
Status
ChromosomeX
Chromosomal Location157566119-157568985 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 157568211 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 186 (D186E)
Ref Sequence ENSEMBL: ENSMUSP00000137233 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058098] [ENSMUST00000065806] [ENSMUST00000112522] [ENSMUST00000149249] [ENSMUST00000179062]
Predicted Effect probably benign
Transcript: ENSMUST00000058098
SMART Domains Protein: ENSMUSP00000059471
Gene: ENSMUSG00000046873

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
Pfam:Peptidase_M50 155 514 4.3e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000065806
AA Change: D186E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000070112
Gene: ENSMUSG00000091736
AA Change: D186E

DomainStartEndE-ValueType
ZnF_C2H2 260 284 1.79e-2 SMART
ZnF_C2H2 289 311 2.2e-2 SMART
ZnF_C2H2 317 341 8.47e-4 SMART
ZnF_C2H2 347 371 3.39e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000065857
Predicted Effect probably benign
Transcript: ENSMUST00000112522
SMART Domains Protein: ENSMUSP00000108141
Gene: ENSMUSG00000046873

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 72 94 N/A INTRINSIC
low complexity region 109 132 N/A INTRINSIC
Pfam:Peptidase_M50 155 214 4.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139786
Predicted Effect probably benign
Transcript: ENSMUST00000149249
SMART Domains Protein: ENSMUSP00000118134
Gene: ENSMUSG00000046873

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 30 53 N/A INTRINSIC
Pfam:Peptidase_M50 76 110 2.9e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179062
AA Change: D186E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137233
Gene: ENSMUSG00000046873
AA Change: D186E

DomainStartEndE-ValueType
ZnF_C2H2 260 284 1.79e-2 SMART
ZnF_C2H2 289 311 2.2e-2 SMART
ZnF_C2H2 317 341 8.47e-4 SMART
ZnF_C2H2 347 371 3.39e-3 SMART
Coding Region Coverage
Validation Efficiency
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 includes several Kruppel-like zinc fingers in its C-terminal region. It possesses both activation and repression domains, and it can therefore have both positive and negative effects on the transcription of target genes. This gene has an intronless coding region, and it appears to have arisen by retrotransposition of the related YY1 transcription factor gene, which is located on chromosome 14. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Anapc7 G A 5: 122,433,477 W205* probably null Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cd6 G T 19: 10,796,394 probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fam122b A T X: 53,245,331 C222S probably damaging Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Lpcat2 T G 8: 92,864,970 W81G possibly damaging Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Otub1 A G 19: 7,204,051 probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Tspan2 T C 3: 102,758,233 probably null Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Wdpcp A G 11: 21,659,995 D21G probably damaging Het
Posted On2012-12-06