Incidental Mutation 'IGL01695:Setdb2'
| ID |
104264 |
| 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 # |
IGL01695
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
utr 3 prime |
| DNA Base Change (assembly) |
A to T
at 59639742 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095775
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
| 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 |
probably benign
Transcript: ENSMUST00000161459
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3b2 |
T |
A |
7: 81,126,687 (GRCm39) |
|
probably benign |
Het |
| Arfgef3 |
T |
C |
10: 18,479,167 (GRCm39) |
T1483A |
probably benign |
Het |
| Arl5a |
A |
T |
2: 52,302,117 (GRCm39) |
I99N |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,167,435 (GRCm39) |
G1279R |
probably benign |
Het |
| Bbs5 |
A |
G |
2: 69,479,434 (GRCm39) |
N43S |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,156,019 (GRCm39) |
V177A |
probably benign |
Het |
| Calhm5 |
A |
G |
10: 33,968,198 (GRCm39) |
V285A |
possibly damaging |
Het |
| Cdh23 |
C |
T |
10: 60,167,612 (GRCm39) |
V1795M |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,819,904 (GRCm39) |
E353G |
probably damaging |
Het |
| Cps1 |
A |
T |
1: 67,236,194 (GRCm39) |
I976L |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,492,841 (GRCm39) |
S551R |
probably damaging |
Het |
| Cyp2b19 |
C |
T |
7: 26,458,489 (GRCm39) |
T68I |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,626,889 (GRCm39) |
E864D |
probably damaging |
Het |
| Esr2 |
A |
G |
12: 76,192,093 (GRCm39) |
S312P |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,418,939 (GRCm39) |
|
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,082,263 (GRCm39) |
|
probably null |
Het |
| Myh6 |
T |
C |
14: 55,194,870 (GRCm39) |
T662A |
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,117,430 (GRCm39) |
D473G |
probably benign |
Het |
| Or51a7 |
T |
C |
7: 102,614,790 (GRCm39) |
F161S |
probably damaging |
Het |
| Piezo1 |
A |
T |
8: 123,222,248 (GRCm39) |
C961S |
possibly damaging |
Het |
| Pik3c2a |
T |
C |
7: 116,016,753 (GRCm39) |
T335A |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,462,274 (GRCm39) |
Y140* |
probably null |
Het |
| Plxnb2 |
T |
C |
15: 89,041,417 (GRCm39) |
I1749V |
possibly damaging |
Het |
| Ppp1r9a |
T |
A |
6: 5,064,003 (GRCm39) |
N555K |
probably damaging |
Het |
| Ptprn2 |
T |
A |
12: 116,805,008 (GRCm39) |
H174Q |
probably benign |
Het |
| Reln |
G |
A |
5: 22,125,436 (GRCm39) |
T2749M |
probably damaging |
Het |
| Scarf1 |
A |
G |
11: 75,412,783 (GRCm39) |
N384S |
probably damaging |
Het |
| Scrt1 |
T |
A |
15: 76,403,150 (GRCm39) |
H280L |
unknown |
Het |
| Serpina1f |
C |
A |
12: 103,659,943 (GRCm39) |
C113F |
probably damaging |
Het |
| Strc |
A |
G |
2: 121,205,779 (GRCm39) |
L830P |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,198 (GRCm39) |
S82G |
probably benign |
Het |
| Tmem217 |
T |
A |
17: 29,745,322 (GRCm39) |
H136L |
probably damaging |
Het |
| Trio |
T |
C |
15: 27,773,087 (GRCm39) |
E715G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,774,360 (GRCm39) |
M2182K |
probably damaging |
Het |
| Ube2d1 |
T |
C |
10: 71,098,082 (GRCm39) |
D12G |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,621,086 (GRCm39) |
D195G |
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 |
|
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation