Incidental Mutation 'R1023:Yy1'
| ID |
226119 |
| 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 |
039125-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1023 (G1)
|
| Quality Score |
65 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
108758899-108786074 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108759457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 40
(V40E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021692
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021692]
|
| AlphaFold |
Q00899 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021692
AA Change: V40E
|
| SMART Domains |
Protein: ENSMUSP00000021692
Gene: ENSMUSG00000021264
AA Change: V40E
| 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: ENSMUST00000223001
|
| Meta Mutation Damage Score |
0.0718 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
| 4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
| Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
| Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
| Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
| Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
| Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
| Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
| Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
| Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
| Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
| Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
| Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
| Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
| Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
| Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
| Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
| Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
| Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
| Taf1b |
G |
T |
12: 24,559,558 (GRCm39) |
|
probably benign |
Het |
| Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
| Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
| Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
| Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
| Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGAGCCGGAGCAGAGTGTG -3'
(R):5'- GTCGGGTCGTCCGTCACCA -3'
Sequencing Primer
(F):5'- CAGGGGGCAGCGTAACG -3'
(R):5'- TCACCAGCGGCTGCAGCGCGATCAT -3'
|
| Posted On |
2014-09-12 |
Incidental Mutation