Incidental Mutation 'R8539:Suz12'
| ID |
659340 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Suz12
|
| Ensembl Gene |
ENSMUSG00000017548 |
| Gene Name |
SUZ12 polycomb repressive complex 2 subunit |
| Synonyms |
2610028O16Rik, D11Ertd530e |
| MMRRC Submission |
068505-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8539 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
79883932-79924949 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79889904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 13
(D13E)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017692]
[ENSMUST00000163272]
|
| AlphaFold |
Q80U70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017692
AA Change: D138E
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000017692
Gene: ENSMUSG00000017548
AA Change: D138E
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1g66a_
|
23 |
70 |
5e-3 |
SMART |
|
ZnF_C2H2
|
450 |
473 |
4.45e0 |
SMART |
|
Pfam:VEFS-Box
|
548 |
682 |
3e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126091
AA Change: D13E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000129070
Gene: ENSMUSG00000017548
AA Change: D13E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
33 |
55 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132312
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148140
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163272
|
| SMART Domains |
Protein: ENSMUSP00000126932
Gene: ENSMUSG00000017548
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1g66a_
|
23 |
70 |
6e-3 |
SMART |
|
ZnF_C2H2
|
427 |
450 |
4.45e0 |
SMART |
|
Pfam:VEFS-Box
|
523 |
660 |
2.4e-60 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: This gene encodes a core component of the polycomb repressive complex 2 (PRC2) that also includes, at least, embryonic ectoderm development protein (EED) and enhancer of zeste homolog 1 or 2 (EZH1 or EZH2). Through the methyltransferase activity of EZH1 or EZH2, the PRC2 complex methylates Lys9 and Lys27 of histone 3 and Lys26 of histone 1, leading to recruitment of the PRC1 complex, histone 2A ubiquitylation and transcriptional repression of the target genes. This gene product is essential for the activity and integrity of the PRC2 complex, and is required for X chromosome inactivation, stem cell maintenance and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]
PHENOTYPE: Homozygous null mice die during early postimplantation stages with failure of embryonic and extraembyronic tissues and organogenesis. Mice heterozygous for a knock-out allele exhibit abnormal brain and spinal cord development with varying penetrance. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(35) : Targeted, knock-out(1) Targeted, other(3) Gene trapped(30) Chemically induced(1) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
G |
A |
13: 4,484,474 (GRCm39) |
|
probably null |
Het |
| Amz1 |
T |
C |
5: 140,734,412 (GRCm39) |
L215S |
probably benign |
Het |
| Aplnr |
A |
G |
2: 84,967,251 (GRCm39) |
D92G |
probably benign |
Het |
| Arpc5 |
A |
G |
1: 152,642,552 (GRCm39) |
D26G |
probably damaging |
Het |
| Cntrob |
G |
A |
11: 69,211,652 (GRCm39) |
R191C |
possibly damaging |
Het |
| Ephb4 |
A |
G |
5: 137,356,117 (GRCm39) |
D242G |
probably damaging |
Het |
| Eppk1 |
C |
T |
15: 75,994,319 (GRCm39) |
R854Q |
probably benign |
Het |
| Galnt13 |
A |
T |
2: 54,823,584 (GRCm39) |
|
probably null |
Het |
| Hcrt |
T |
A |
11: 100,652,051 (GRCm39) |
|
probably benign |
Het |
| Hnf1a |
A |
G |
5: 115,108,576 (GRCm39) |
|
probably null |
Het |
| Hykk |
A |
G |
9: 54,844,444 (GRCm39) |
S170G |
probably benign |
Het |
| Igf1r |
C |
A |
7: 67,653,596 (GRCm39) |
Q45K |
probably benign |
Het |
| Klhl8 |
C |
T |
5: 104,015,392 (GRCm39) |
V511I |
probably damaging |
Het |
| Loxl3 |
A |
T |
6: 83,026,507 (GRCm39) |
M488L |
probably benign |
Het |
| Myo7a |
G |
A |
7: 97,721,668 (GRCm39) |
P1221S |
probably damaging |
Het |
| Myom2 |
A |
T |
8: 15,164,254 (GRCm39) |
I1050F |
probably benign |
Het |
| Ncapd3 |
T |
G |
9: 26,959,520 (GRCm39) |
C319G |
probably benign |
Het |
| Ndufaf5 |
C |
A |
2: 140,025,894 (GRCm39) |
T151K |
possibly damaging |
Het |
| Notch3 |
A |
T |
17: 32,375,329 (GRCm39) |
D364E |
possibly damaging |
Het |
| Nudt21 |
G |
A |
8: 94,763,601 (GRCm39) |
|
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,257,343 (GRCm39) |
I43V |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 110,362,919 (GRCm39) |
V1060E |
probably damaging |
Het |
| Plxnd1 |
G |
C |
6: 115,939,768 (GRCm39) |
P1404A |
possibly damaging |
Het |
| Ret |
A |
G |
6: 118,152,770 (GRCm39) |
V523A |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,299,084 (GRCm39) |
I819T |
possibly damaging |
Het |
| Scn10a |
T |
A |
9: 119,467,840 (GRCm39) |
K767* |
probably null |
Het |
| Sema5a |
T |
A |
15: 32,618,989 (GRCm39) |
W506R |
probably damaging |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Sult1b1 |
C |
A |
5: 87,681,838 (GRCm39) |
V67F |
possibly damaging |
Het |
| Tap1 |
C |
T |
17: 34,408,409 (GRCm39) |
A216V |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,553 (GRCm39) |
L448P |
probably damaging |
Het |
| Tnik |
G |
A |
3: 28,596,152 (GRCm39) |
V182M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,736,778 (GRCm39) |
F4329L |
probably benign |
Het |
| Usp21 |
C |
T |
1: 171,111,246 (GRCm39) |
E396K |
probably damaging |
Het |
| Vmn1r122 |
A |
T |
7: 20,867,281 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn2r106 |
C |
A |
17: 20,499,271 (GRCm39) |
R213S |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,790,274 (GRCm39) |
M244K |
probably benign |
Het |
| Zeb1 |
T |
A |
18: 5,748,784 (GRCm39) |
V117D |
probably damaging |
Het |
|
| Other mutations in Suz12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Suz12
|
APN |
11 |
79,889,918 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00938:Suz12
|
APN |
11 |
79,898,395 (GRCm39) |
splice site |
probably benign |
|
|
IGL01902:Suz12
|
APN |
11 |
79,916,776 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02998:Suz12
|
APN |
11 |
79,920,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Suz12
|
UTSW |
11 |
79,889,875 (GRCm39) |
intron |
probably benign |
|
|
R0317:Suz12
|
UTSW |
11 |
79,889,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Suz12
|
UTSW |
11 |
79,920,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1454:Suz12
|
UTSW |
11 |
79,922,939 (GRCm39) |
missense |
probably benign |
|
|
R1470:Suz12
|
UTSW |
11 |
79,910,558 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1470:Suz12
|
UTSW |
11 |
79,910,558 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1745:Suz12
|
UTSW |
11 |
79,912,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1868:Suz12
|
UTSW |
11 |
79,904,425 (GRCm39) |
splice site |
probably null |
|
|
R1957:Suz12
|
UTSW |
11 |
79,889,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2192:Suz12
|
UTSW |
11 |
79,913,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3003:Suz12
|
UTSW |
11 |
79,910,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3758:Suz12
|
UTSW |
11 |
79,915,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4017:Suz12
|
UTSW |
11 |
79,904,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4275:Suz12
|
UTSW |
11 |
79,920,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Suz12
|
UTSW |
11 |
79,892,988 (GRCm39) |
intron |
probably benign |
|
|
R4487:Suz12
|
UTSW |
11 |
79,922,939 (GRCm39) |
missense |
probably benign |
|
|
R4663:Suz12
|
UTSW |
11 |
79,904,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Suz12
|
UTSW |
11 |
79,892,988 (GRCm39) |
intron |
probably benign |
|
|
R4959:Suz12
|
UTSW |
11 |
79,920,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Suz12
|
UTSW |
11 |
79,916,134 (GRCm39) |
nonsense |
probably null |
|
|
R6238:Suz12
|
UTSW |
11 |
79,893,006 (GRCm39) |
intron |
probably benign |
|
|
R6379:Suz12
|
UTSW |
11 |
79,906,014 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6880:Suz12
|
UTSW |
11 |
79,892,998 (GRCm39) |
nonsense |
probably null |
|
|
R7122:Suz12
|
UTSW |
11 |
79,884,419 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7195:Suz12
|
UTSW |
11 |
79,904,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7343:Suz12
|
UTSW |
11 |
79,910,529 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7472:Suz12
|
UTSW |
11 |
79,915,801 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8555:Suz12
|
UTSW |
11 |
79,922,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9050:Suz12
|
UTSW |
11 |
79,913,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9263:Suz12
|
UTSW |
11 |
79,904,087 (GRCm39) |
intron |
probably benign |
|
|
R9632:Suz12
|
UTSW |
11 |
79,915,748 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9740:Suz12
|
UTSW |
11 |
79,889,920 (GRCm39) |
nonsense |
probably null |
|
|
X0023:Suz12
|
UTSW |
11 |
79,920,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTAAGCTTGAAGGCATGTC -3'
(R):5'- TACACCTGGAGCAACTGATTCTAAG -3'
Sequencing Primer
(F):5'- AAGCTTGAAGGCATGTCTACTTG -3'
(R):5'- AACCTCCCAGTAACCTTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation