Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02158:Yy1'

282348

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Yy1

Ensembl Gene

ENSMUSG00000021264

Gene Name

YY1 transcription factor

Synonyms

NF-E1, delta transcription factor, Yin Yang 1, UCRBP transcription factor

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02158

Quality Score

Status

Chromosome

Chromosomal Location

108758899-108786074 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 108780525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000021692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021692]

AlphaFold

Q00899

Predicted Effect

probably benign
Transcript: ENSMUST00000021692

SMART Domains

Protein: ENSMUSP00000021692
Gene: ENSMUSG00000021264

Domain	Start	End	E-Value	Type
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: ENSMUST00000126912

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,163,902 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,337,891 (GRCm39)		probably benign	Het
Abcb11	A	T	2: 69,130,269 (GRCm39)	S262R	probably damaging	Het
Abhd12	T	A	2: 150,690,341 (GRCm39)	Q118L	probably benign	Het
Adam1a	A	T	5: 121,657,034 (GRCm39)	L753*	probably null	Het
Ahctf1	A	T	1: 179,607,217 (GRCm39)	I699N	possibly damaging	Het
Arl11	C	A	14: 61,548,487 (GRCm39)	A99E	probably damaging	Het
Atp5po	G	A	16: 91,727,289 (GRCm39)	R16W	probably damaging	Het
AW551984	T	C	9: 39,510,621 (GRCm39)	H238R	probably null	Het
Bpifb9a	C	A	2: 154,108,733 (GRCm39)		probably benign	Het
Carhsp1	A	G	16: 8,481,577 (GRCm39)		probably benign	Het
Ccdc33	T	C	9: 57,937,702 (GRCm39)	D623G	probably damaging	Het
Chd6	C	A	2: 160,868,212 (GRCm39)	R378L	possibly damaging	Het
Chn2	T	C	6: 54,277,230 (GRCm39)		probably benign	Het
Clgn	T	G	8: 84,149,765 (GRCm39)	I422S	probably damaging	Het
Col15a1	T	A	4: 47,300,606 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2c39	T	C	19: 39,556,574 (GRCm39)	I470T	probably benign	Het
Dcaf11	T	A	14: 55,801,980 (GRCm39)		probably null	Het
Dnah1	G	T	14: 31,022,924 (GRCm39)	T1071K	probably benign	Het
Dnah2	T	A	11: 69,348,949 (GRCm39)	M2513L	probably benign	Het
Dqx1	A	G	6: 83,035,891 (GRCm39)		probably benign	Het
Gm1587	T	C	14: 78,036,282 (GRCm39)	E8G	unknown	Het
Hydin	T	C	8: 111,336,598 (GRCm39)	I5125T	possibly damaging	Het
Ighv5-9	G	T	12: 113,625,563 (GRCm39)	P60Q	probably damaging	Het
Itga7	T	G	10: 128,789,651 (GRCm39)	L993R	possibly damaging	Het
Itpr3	A	G	17: 27,317,416 (GRCm39)	N857S	probably damaging	Het
Krt23	C	T	11: 99,383,490 (GRCm39)		probably benign	Het
Lrp1	T	C	10: 127,390,140 (GRCm39)	N3093S	probably benign	Het
Mms22l	T	C	4: 24,505,349 (GRCm39)	F203S	probably damaging	Het
Morn5	A	G	2: 35,947,088 (GRCm39)	D122G	probably damaging	Het
Mpp2	G	T	11: 101,954,088 (GRCm39)	L220I	probably benign	Het
Mrgpra6	A	T	7: 46,835,700 (GRCm39)	Y240*	probably null	Het
Mtmr12	T	C	15: 12,238,016 (GRCm39)	I165T	probably damaging	Het
Mylk2	C	A	2: 152,761,077 (GRCm39)	N428K	probably damaging	Het
Nfil3	A	G	13: 53,122,188 (GRCm39)	Y239H	probably damaging	Het
Notch1	A	G	2: 26,350,351 (GRCm39)	L2263P	probably damaging	Het
Or2g7	T	A	17: 38,378,158 (GRCm39)	I32N	probably damaging	Het
Or8b101	A	G	9: 38,020,425 (GRCm39)	M148V	probably benign	Het
P3h3	A	T	6: 124,830,055 (GRCm39)	Y387N	probably damaging	Het
Pdcd6ip	A	T	9: 113,509,121 (GRCm39)	Y324*	probably null	Het
Plcb2	C	A	2: 118,541,844 (GRCm39)	R922L	probably benign	Het
Pml	T	C	9: 58,154,286 (GRCm39)	T196A	probably benign	Het
Ppp2r1b	C	A	9: 50,772,909 (GRCm39)	Q65K	probably benign	Het
Ric8a	A	G	7: 140,442,270 (GRCm39)	T507A	probably benign	Het
Sec16a	A	G	2: 26,306,644 (GRCm39)		probably null	Het
Slc46a3	G	T	5: 147,823,044 (GRCm39)	T266N	probably damaging	Het
Smg1	A	G	7: 117,812,169 (GRCm39)	S41P	possibly damaging	Het
Snrnp200	T	A	2: 127,079,403 (GRCm39)	N1837K	probably benign	Het
Sptan1	A	G	2: 29,920,336 (GRCm39)	T2318A	probably damaging	Het
St7l	C	T	3: 104,782,148 (GRCm39)	T175I	possibly damaging	Het
Tmc7	G	A	7: 118,137,434 (GRCm39)	R703C	probably damaging	Het
Urah	A	G	7: 140,416,799 (GRCm39)		probably benign	Het
Vmn1r42	A	T	6: 89,822,296 (GRCm39)	I91N	probably damaging	Het

Other mutations in Yy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Yy1	APN	12	108,781,463 (GRCm39)	missense	probably damaging	1.00
IGL02223:Yy1	APN	12	108,759,466 (GRCm39)	missense	unknown
IGL02412:Yy1	APN	12	108,760,023 (GRCm39)	splice site	probably benign
IGL02718:Yy1	APN	12	108,781,405 (GRCm39)	missense	probably damaging	1.00
R1023:Yy1	UTSW	12	108,759,457 (GRCm39)	missense	unknown
R1341:Yy1	UTSW	12	108,759,445 (GRCm39)	missense	unknown
R1855:Yy1	UTSW	12	108,759,916 (GRCm39)	small insertion	probably benign
R1989:Yy1	UTSW	12	108,772,534 (GRCm39)	missense	probably damaging	1.00
R2022:Yy1	UTSW	12	108,759,916 (GRCm39)	small insertion	probably benign
R4566:Yy1	UTSW	12	108,778,889 (GRCm39)	missense	probably damaging	0.98
R4717:Yy1	UTSW	12	108,759,972 (GRCm39)	missense	possibly damaging	0.50
R5041:Yy1	UTSW	12	108,759,557 (GRCm39)	small insertion	probably benign
R5089:Yy1	UTSW	12	108,759,663 (GRCm39)	missense	probably damaging	1.00
R5597:Yy1	UTSW	12	108,781,436 (GRCm39)	missense	probably damaging	1.00
R5907:Yy1	UTSW	12	108,772,354 (GRCm39)	intron	probably benign
R6876:Yy1	UTSW	12	108,772,518 (GRCm39)	missense	probably benign	0.13
R6878:Yy1	UTSW	12	108,780,682 (GRCm39)	missense	probably damaging	1.00
R6923:Yy1	UTSW	12	108,759,594 (GRCm39)	missense	probably benign	0.28
R8218:Yy1	UTSW	12	108,759,619 (GRCm39)	missense	probably benign	0.00
R8378:Yy1	UTSW	12	108,759,562 (GRCm39)	missense	unknown
R8808:Yy1	UTSW	12	108,759,506 (GRCm39)	small deletion	probably benign
R8809:Yy1	UTSW	12	108,759,506 (GRCm39)	small deletion	probably benign
R9072:Yy1	UTSW	12	108,759,921 (GRCm39)	missense	probably benign	0.19
R9073:Yy1	UTSW	12	108,759,921 (GRCm39)	missense	probably benign	0.19
R9672:Yy1	UTSW	12	108,759,584 (GRCm39)	missense	unknown
R9749:Yy1	UTSW	12	108,772,417 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16