Incidental Mutation 'R4566:Yy1'
| ID |
343324 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108758899-108786074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108778889 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 296
(I296K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021692]
|
| AlphaFold |
Q00899 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021692
AA Change: I296K
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021692
Gene: ENSMUSG00000021264
AA Change: I296K
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,567,927 (GRCm39) |
E5082G |
probably damaging |
Het |
| Apol7a |
A |
T |
15: 77,273,951 (GRCm39) |
Y170* |
probably null |
Het |
| Cfhr1 |
T |
A |
1: 139,481,386 (GRCm39) |
I165F |
possibly damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Espnl |
C |
A |
1: 91,272,301 (GRCm39) |
P510T |
possibly damaging |
Het |
| Fbxw4 |
A |
G |
19: 45,580,225 (GRCm39) |
V258A |
probably benign |
Het |
| Foxq1 |
T |
C |
13: 31,743,471 (GRCm39) |
M191T |
probably benign |
Het |
| Gabrg1 |
A |
T |
5: 70,999,484 (GRCm39) |
L22I |
probably benign |
Het |
| Limk1 |
A |
G |
5: 134,715,537 (GRCm39) |
L38P |
probably benign |
Het |
| Mfhas1 |
C |
T |
8: 36,058,203 (GRCm39) |
R893C |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,056,597 (GRCm39) |
V1181I |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,823 (GRCm39) |
C188* |
probably null |
Het |
| Pithd1 |
A |
G |
4: 135,704,548 (GRCm39) |
V56A |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,494,338 (GRCm39) |
K93E |
probably benign |
Het |
| Ppp2cb |
T |
C |
8: 34,100,723 (GRCm39) |
V48A |
possibly damaging |
Het |
| Rasl2-9 |
AGG |
A |
7: 5,128,374 (GRCm39) |
|
probably null |
Het |
| Rrs1 |
T |
C |
1: 9,616,452 (GRCm39) |
F235S |
probably damaging |
Het |
| Rtl1 |
G |
A |
12: 109,559,293 (GRCm39) |
L849F |
probably damaging |
Het |
| Slc5a9 |
C |
A |
4: 111,748,941 (GRCm39) |
|
probably null |
Het |
| Trps1 |
A |
G |
15: 50,695,074 (GRCm39) |
V116A |
probably damaging |
Het |
| Vmn2r51 |
C |
T |
7: 9,836,341 (GRCm39) |
E147K |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGCTACAAGGGAAAACC -3'
(R):5'- CAGGAGTAAGAACACTGGCC -3'
Sequencing Primer
(F):5'- ACCTCAGGGACGATTTGATTTATGC -3'
(R):5'- GAGTAAGAACACTGGCCCCTATAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation