Incidental Mutation 'R6106:Setdb2'
| ID |
485525 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
044256-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R6106 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 59660898 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 82
(K82*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000111253]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095775
AA Change: K98*
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: K98*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBD
|
164 |
236 |
3.4e-10 |
PFAM |
|
Pfam:Pre-SET
|
250 |
362 |
1.7e-17 |
PFAM |
|
SET
|
370 |
694 |
9.33e-32 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000111253
AA Change: K82*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000161459
AA Change: K82*
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: K82*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MBD
|
148 |
220 |
2.7e-9 |
PFAM |
|
Pfam:Pre-SET
|
233 |
346 |
1.3e-19 |
PFAM |
|
SET
|
354 |
678 |
9.33e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit altered response to infection and improved patology following superinfection of influenza virus-infected mice with S. pneumonia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
A |
G |
11: 105,879,838 (GRCm39) |
E726G |
probably damaging |
Het |
| Adgrl4 |
A |
G |
3: 151,246,622 (GRCm39) |
I641V |
possibly damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,931 (GRCm39) |
R336* |
probably null |
Het |
| Bfsp2 |
T |
A |
9: 103,357,023 (GRCm39) |
T135S |
probably benign |
Het |
| Calhm2 |
A |
T |
19: 47,121,501 (GRCm39) |
Y223N |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,775,325 (GRCm39) |
E960G |
probably benign |
Het |
| Ccdc80 |
T |
C |
16: 44,917,073 (GRCm39) |
S610P |
probably benign |
Het |
| Cdon |
T |
A |
9: 35,366,704 (GRCm39) |
Y193* |
probably null |
Het |
| Cept1 |
A |
T |
3: 106,410,992 (GRCm39) |
H400Q |
probably benign |
Het |
| Cfap144 |
T |
C |
11: 58,687,427 (GRCm39) |
E66G |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,484,434 (GRCm39) |
N1197K |
probably benign |
Het |
| Cnot8 |
T |
C |
11: 58,004,816 (GRCm39) |
S172P |
probably damaging |
Het |
| Col14a1 |
T |
C |
15: 55,383,404 (GRCm39) |
I1794T |
probably damaging |
Het |
| Cracdl |
T |
C |
1: 37,652,493 (GRCm39) |
T1105A |
possibly damaging |
Het |
| Fam193a |
A |
T |
5: 34,616,374 (GRCm39) |
T564S |
possibly damaging |
Het |
| Galnt1 |
G |
A |
18: 24,387,720 (GRCm39) |
V154I |
probably benign |
Het |
| Gstcd |
C |
A |
3: 132,704,675 (GRCm39) |
E526D |
probably benign |
Het |
| Ighv1-42 |
A |
C |
12: 114,900,907 (GRCm39) |
S59R |
probably benign |
Het |
| Morn3 |
A |
G |
5: 123,184,823 (GRCm39) |
C6R |
possibly damaging |
Het |
| Nrdc |
A |
T |
4: 108,901,782 (GRCm39) |
K617M |
probably damaging |
Het |
| Or2aj4 |
A |
G |
16: 19,385,009 (GRCm39) |
L208P |
probably damaging |
Het |
| Or51ai2 |
A |
G |
7: 103,587,400 (GRCm39) |
H271R |
probably benign |
Het |
| Or8b36 |
T |
A |
9: 37,937,762 (GRCm39) |
I220N |
probably damaging |
Het |
| Or8b49 |
T |
C |
9: 38,506,252 (GRCm39) |
M245T |
probably benign |
Het |
| Pcdhb11 |
A |
G |
18: 37,556,056 (GRCm39) |
N462S |
probably damaging |
Het |
| Pfpl |
G |
T |
19: 12,406,825 (GRCm39) |
D359Y |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,699,299 (GRCm39) |
V34A |
probably benign |
Het |
| Pigu |
A |
T |
2: 155,139,116 (GRCm39) |
I313N |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Psg16 |
T |
A |
7: 16,829,091 (GRCm39) |
F225Y |
possibly damaging |
Het |
| Sgms1 |
A |
G |
19: 32,101,825 (GRCm39) |
S394P |
possibly damaging |
Het |
| Slc16a1 |
T |
C |
3: 104,560,310 (GRCm39) |
L205P |
probably benign |
Het |
| Slc19a1 |
T |
A |
10: 76,880,603 (GRCm39) |
I380N |
probably damaging |
Het |
| Snx32 |
A |
G |
19: 5,548,042 (GRCm39) |
I131T |
probably benign |
Het |
| Sorbs3 |
T |
C |
14: 70,430,053 (GRCm39) |
|
probably null |
Het |
| Stc2 |
T |
A |
11: 31,310,392 (GRCm39) |
I215L |
probably benign |
Het |
| Tln2 |
C |
T |
9: 67,230,302 (GRCm39) |
A84T |
probably damaging |
Het |
| Tomm34 |
A |
G |
2: 163,902,911 (GRCm39) |
M133T |
probably benign |
Het |
| Usp43 |
A |
G |
11: 67,770,733 (GRCm39) |
S634P |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,749 (GRCm39) |
R689* |
probably null |
Het |
| Vmn2r9 |
C |
T |
5: 108,992,902 (GRCm39) |
R536Q |
probably benign |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
| Zfhx2 |
T |
A |
14: 55,305,767 (GRCm39) |
|
probably null |
Het |
| Zfp1004 |
A |
G |
2: 150,034,725 (GRCm39) |
K349E |
probably damaging |
Het |
| Zfp608 |
G |
T |
18: 55,120,944 (GRCm39) |
H214Q |
possibly damaging |
Het |
| Zfp619 |
T |
C |
7: 39,184,558 (GRCm39) |
V196A |
probably benign |
Het |
|
| Other mutations in Setdb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Setdb2
|
APN |
14 |
59,653,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01695:Setdb2
|
APN |
14 |
59,639,742 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL01720:Setdb2
|
APN |
14 |
59,660,885 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02003:Setdb2
|
APN |
14 |
59,650,939 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02023:Setdb2
|
APN |
14 |
59,668,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02108:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02113:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02114:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02115:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02116:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02117:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02141:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02148:Setdb2
|
APN |
14 |
59,639,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0419:Setdb2
|
UTSW |
14 |
59,644,193 (GRCm39) |
splice site |
probably null |
|
|
R0610:Setdb2
|
UTSW |
14 |
59,654,919 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0636:Setdb2
|
UTSW |
14 |
59,644,153 (GRCm39) |
missense |
probably benign |
0.40 |
|
R0890:Setdb2
|
UTSW |
14 |
59,656,669 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0931:Setdb2
|
UTSW |
14 |
59,660,945 (GRCm39) |
splice site |
probably benign |
|
|
R1355:Setdb2
|
UTSW |
14 |
59,654,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1553:Setdb2
|
UTSW |
14 |
59,654,934 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1968:Setdb2
|
UTSW |
14 |
59,656,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2472:Setdb2
|
UTSW |
14 |
59,656,903 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2894:Setdb2
|
UTSW |
14 |
59,663,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3919:Setdb2
|
UTSW |
14 |
59,656,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4609:Setdb2
|
UTSW |
14 |
59,653,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4629:Setdb2
|
UTSW |
14 |
59,646,808 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4816:Setdb2
|
UTSW |
14 |
59,651,095 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4864:Setdb2
|
UTSW |
14 |
59,646,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4951:Setdb2
|
UTSW |
14 |
59,639,752 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5040:Setdb2
|
UTSW |
14 |
59,653,156 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5245:Setdb2
|
UTSW |
14 |
59,663,943 (GRCm39) |
missense |
probably null |
0.00 |
|
R5358:Setdb2
|
UTSW |
14 |
59,646,885 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5656:Setdb2
|
UTSW |
14 |
59,656,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5705:Setdb2
|
UTSW |
14 |
59,660,814 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6103:Setdb2
|
UTSW |
14 |
59,646,981 (GRCm39) |
splice site |
probably null |
|
|
R6388:Setdb2
|
UTSW |
14 |
59,662,146 (GRCm39) |
missense |
probably benign |
|
|
R6431:Setdb2
|
UTSW |
14 |
59,656,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6494:Setdb2
|
UTSW |
14 |
59,639,863 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6971:Setdb2
|
UTSW |
14 |
59,653,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Setdb2
|
UTSW |
14 |
59,656,700 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7444:Setdb2
|
UTSW |
14 |
59,660,794 (GRCm39) |
nonsense |
probably null |
|
|
R7759:Setdb2
|
UTSW |
14 |
59,656,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Setdb2
|
UTSW |
14 |
59,660,833 (GRCm39) |
nonsense |
probably null |
|
|
R8039:Setdb2
|
UTSW |
14 |
59,639,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8261:Setdb2
|
UTSW |
14 |
59,651,141 (GRCm39) |
splice site |
probably benign |
|
|
R8393:Setdb2
|
UTSW |
14 |
59,650,180 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8513:Setdb2
|
UTSW |
14 |
59,639,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Setdb2
|
UTSW |
14 |
59,654,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8707:Setdb2
|
UTSW |
14 |
59,660,907 (GRCm39) |
nonsense |
probably null |
|
|
R8940:Setdb2
|
UTSW |
14 |
59,646,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9217:Setdb2
|
UTSW |
14 |
59,646,881 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9314:Setdb2
|
UTSW |
14 |
59,650,240 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9336:Setdb2
|
UTSW |
14 |
59,660,816 (GRCm39) |
missense |
unknown |
|
|
R9442:Setdb2
|
UTSW |
14 |
59,639,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9525:Setdb2
|
UTSW |
14 |
59,646,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9743:Setdb2
|
UTSW |
14 |
59,651,002 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0017:Setdb2
|
UTSW |
14 |
59,656,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGACACTGAGCTGACACTG -3'
(R):5'- GGCAATCTTATGGCTGAGTCTC -3'
Sequencing Primer
(F):5'- GACACTGGAGGCCATTTTAATATTCC -3'
(R):5'- TGGCTGAGTCTCAAAATTTTAGTATC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation