Mutagenetix > Incidental Mutation

Incidental Mutation 'R5597:Yy1'

437891

Institutional Source

Beutler Lab

Gene Symbol

Yy1

Ensembl Gene

ENSMUSG00000021264

Gene Name

YY1 transcription factor

Synonyms

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

MMRRC Submission

043149-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

108758899-108786074 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108781436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 367 (D367G)

Ref Sequence

ENSEMBL: ENSMUSP00000021692 (fasta)

Gene Model

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

AlphaFold

Q00899

Predicted Effect

probably damaging
Transcript: ENSMUST00000021692
AA Change: D367G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021692
Gene: ENSMUSG00000021264
AA Change: D367G

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

Meta Mutation Damage Score

0.8966

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.2%

Validation Efficiency

100% (55/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,927,363 (GRCm39)	T1330I	probably damaging	Het
Aebp1	T	C	11: 5,816,487 (GRCm39)	V322A	probably benign	Het
Anks3	T	A	16: 4,771,793 (GRCm39)	H77L	possibly damaging	Het
Bsn	A	T	9: 107,992,131 (GRCm39)	M1207K	probably benign	Het
Btla	A	G	16: 45,064,599 (GRCm39)	T183A	probably benign	Het
Cdca8	G	A	4: 124,812,793 (GRCm39)	R286W	probably damaging	Het
Cnot6l	T	C	5: 96,278,978 (GRCm39)	D80G	probably damaging	Het
Col16a1	A	G	4: 129,952,097 (GRCm39)	D93G	probably damaging	Het
Ctsk	T	C	3: 95,409,007 (GRCm39)	V130A	probably damaging	Het
Cul9	T	C	17: 46,813,591 (GRCm39)	E2294G	possibly damaging	Het
Dcaf5	G	T	12: 80,386,817 (GRCm39)	S436R	probably damaging	Het
Dnah7a	A	T	1: 53,573,611 (GRCm39)	L1792H	probably benign	Het
Dst	T	C	1: 34,231,794 (GRCm39)	V3307A	probably benign	Het
Frrs1	C	T	3: 116,671,887 (GRCm39)		probably benign	Het
Gimap4	T	C	6: 48,667,698 (GRCm39)	L151P	probably damaging	Het
Hook2	A	G	8: 85,720,657 (GRCm39)	N166S	probably benign	Het
Hp1bp3	A	T	4: 137,948,939 (GRCm39)	M1L	possibly damaging	Het
Igkv4-56	T	A	6: 69,564,467 (GRCm39)		noncoding transcript	Het
Kdm6b	C	T	11: 69,296,900 (GRCm39)	A456T	probably damaging	Het
Lamc1	A	G	1: 153,127,716 (GRCm39)	C396R	probably damaging	Het
Lars2	A	T	9: 123,284,047 (GRCm39)	D745V	probably damaging	Het
Macf1	A	T	4: 123,433,570 (GRCm39)		probably benign	Het
Mapk4	T	A	18: 74,070,341 (GRCm39)	Y184F	probably benign	Het
Mgat5	A	G	1: 127,325,303 (GRCm39)	Y390C	probably damaging	Het
Msh2	T	C	17: 88,030,789 (GRCm39)	S889P	probably benign	Het
Nebl	A	G	2: 17,382,978 (GRCm39)	S100P	probably benign	Het
Nudt7	A	T	8: 114,878,506 (GRCm39)	H154L	probably benign	Het
Olig2	A	T	16: 91,023,768 (GRCm39)	M161L	probably benign	Het
Or2ah1	T	C	2: 85,653,804 (GRCm39)	L163P	probably damaging	Het
Or5h24	A	T	16: 58,918,710 (GRCm39)	V215D	unknown	Het
Or6c214	T	C	10: 129,590,755 (GRCm39)	D188G	probably damaging	Het
Palmd	T	A	3: 116,717,225 (GRCm39)	D424V	probably damaging	Het
Pdzk1ip1	A	G	4: 114,950,689 (GRCm39)	N164D	probably damaging	Het
Prkag1	A	G	15: 98,713,789 (GRCm39)	S14P	probably damaging	Het
Prss12	C	T	3: 123,258,389 (GRCm39)	P161L	probably benign	Het
Pwwp2a	T	C	11: 43,573,422 (GRCm39)	V168A	probably benign	Het
Rassf7	A	G	7: 140,797,024 (GRCm39)	D79G	probably damaging	Het
Rgs3	A	T	4: 62,542,082 (GRCm39)	I19F	probably damaging	Het
Slc30a10	C	A	1: 185,194,897 (GRCm39)	H236Q	probably damaging	Het
Slco3a1	C	A	7: 73,934,210 (GRCm39)	R654L	probably benign	Het
Smad4	A	C	18: 73,795,898 (GRCm39)	F165L	probably benign	Het
Swsap1	G	T	9: 21,867,242 (GRCm39)	R62M	probably damaging	Het
Tenm4	T	A	7: 96,202,724 (GRCm39)	M113K	probably benign	Het
Tmem225	A	G	9: 40,060,726 (GRCm39)	N95S	possibly damaging	Het
Tnni3k	A	T	3: 154,577,765 (GRCm39)	L658H	probably damaging	Het
Trem2	G	A	17: 48,658,840 (GRCm39)	V202I	probably benign	Het
Tyw1	C	T	5: 130,303,498 (GRCm39)	L289F	probably benign	Het
Vcam1	T	A	3: 115,919,651 (GRCm39)	D205V	probably damaging	Het
Vmn2r-ps158	A	G	7: 42,674,073 (GRCm39)	D377G	probably benign	Het
Zfp11	A	T	5: 129,734,166 (GRCm39)	C432S	probably benign	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
IGL02158:Yy1	APN	12	108,780,525 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATCACGCTCAGAAGGGTCTC -3'
(R):5'- TTTATTCCCAATCACACTCCTGAAG -3'

Sequencing Primer
(F):5'- GCTCAGAAGGGTCTCCAGAG -3'
(R):5'- TCCTGAAGAGGCTTCCCG -3'

Posted On

2016-10-26