Incidental Mutation 'IGL02003:Setdb2'
| ID |
182175 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
IGL02003
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59650939 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 464
(E464G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095775
AA Change: E464G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: E464G
| 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 |
noncoding transcript
Transcript: ENSMUST00000159640
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161459
AA Change: E448G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: E448G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161959
|
| Coding Region Coverage |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449E01Rik |
A |
G |
14: 105,736,392 (GRCm39) |
|
noncoding transcript |
Het |
| Adam1b |
G |
A |
5: 121,639,354 (GRCm39) |
L564F |
probably damaging |
Het |
| Alms1 |
C |
T |
6: 85,599,205 (GRCm39) |
P1344S |
possibly damaging |
Het |
| Cnnm2 |
G |
T |
19: 46,856,998 (GRCm39) |
G699W |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,799,767 (GRCm39) |
K309R |
probably benign |
Het |
| Csnk2a1 |
C |
T |
2: 152,118,890 (GRCm39) |
R333* |
probably null |
Het |
| Eif3m |
C |
T |
2: 104,843,188 (GRCm39) |
|
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,820,802 (GRCm39) |
D244G |
probably damaging |
Het |
| H2-Q10 |
A |
G |
17: 35,781,338 (GRCm39) |
I47V |
probably benign |
Het |
| Hmcn2 |
C |
T |
2: 31,318,994 (GRCm39) |
T3898I |
possibly damaging |
Het |
| Isyna1 |
G |
A |
8: 71,049,407 (GRCm39) |
V440M |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,340,449 (GRCm39) |
K2654E |
probably damaging |
Het |
| Lrrd1 |
C |
T |
5: 3,899,857 (GRCm39) |
T54I |
probably damaging |
Het |
| Lrrk2 |
G |
A |
15: 91,615,694 (GRCm39) |
V843M |
probably damaging |
Het |
| Morc2b |
A |
T |
17: 33,357,298 (GRCm39) |
V158D |
probably benign |
Het |
| Mroh7 |
T |
C |
4: 106,559,726 (GRCm39) |
T734A |
probably damaging |
Het |
| Mylk3 |
T |
C |
8: 86,085,727 (GRCm39) |
D136G |
probably benign |
Het |
| Nos1 |
T |
C |
5: 118,043,530 (GRCm39) |
S602P |
probably damaging |
Het |
| Nsmaf |
T |
C |
4: 6,418,522 (GRCm39) |
I428V |
probably benign |
Het |
| Nup93 |
T |
G |
8: 95,028,737 (GRCm39) |
Y323* |
probably null |
Het |
| Or5ac21 |
G |
A |
16: 59,123,996 (GRCm39) |
G161D |
probably damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,361 (GRCm39) |
M34L |
probably benign |
Het |
| Or8b50 |
C |
T |
9: 38,518,136 (GRCm39) |
A125V |
probably damaging |
Het |
| Ppm1m |
C |
A |
9: 106,076,356 (GRCm39) |
G13W |
probably damaging |
Het |
| Prok1 |
T |
G |
3: 107,142,979 (GRCm39) |
H75P |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,203,410 (GRCm39) |
I1774F |
probably damaging |
Het |
| Rasl10b |
A |
T |
11: 83,308,679 (GRCm39) |
E73V |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,228,342 (GRCm39) |
T271A |
possibly damaging |
Het |
| Serpina3a |
A |
G |
12: 104,082,259 (GRCm39) |
M11V |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,735,625 (GRCm39) |
I749T |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,408,493 (GRCm39) |
I463N |
probably damaging |
Het |
| Sncb |
A |
T |
13: 54,910,743 (GRCm39) |
V51E |
probably damaging |
Het |
| Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
| Tet1 |
A |
G |
10: 62,652,179 (GRCm39) |
V1613A |
possibly damaging |
Het |
| Vmn2r91 |
T |
A |
17: 18,327,921 (GRCm39) |
I505K |
probably benign |
Het |
| Zfp110 |
A |
T |
7: 12,583,832 (GRCm39) |
K827* |
probably null |
Het |
| Zfp438 |
A |
T |
18: 5,214,503 (GRCm39) |
C152S |
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 |
|
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 |
|
|
R6106:Setdb2
|
UTSW |
14 |
59,660,898 (GRCm39) |
nonsense |
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation