Incidental Mutation 'IGL02141:Setdb2'
| ID |
281538 |
| 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 # |
IGL02141
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59639764 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 709
(R709Q)
|
| 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: R709Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: R709Q
| 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: R693Q
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: R693Q
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J03Rik |
C |
T |
5: 146,120,275 (GRCm39) |
A188T |
probably benign |
Het |
| 2310022B05Rik |
A |
T |
8: 125,364,645 (GRCm39) |
|
probably benign |
Het |
| Atf6b |
C |
A |
17: 34,872,251 (GRCm39) |
H539Q |
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,729,593 (GRCm39) |
|
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,071,477 (GRCm39) |
|
probably null |
Het |
| Cep89 |
T |
A |
7: 35,120,349 (GRCm39) |
M377K |
probably damaging |
Het |
| Clpx |
G |
T |
9: 65,219,400 (GRCm39) |
|
probably null |
Het |
| Cops5 |
T |
C |
1: 10,105,342 (GRCm39) |
K47E |
probably damaging |
Het |
| Cryba2 |
T |
C |
1: 74,931,943 (GRCm39) |
N35S |
probably benign |
Het |
| Ddx27 |
A |
G |
2: 166,862,443 (GRCm39) |
K162E |
possibly damaging |
Het |
| Dhx36 |
A |
G |
3: 62,401,310 (GRCm39) |
S319P |
probably benign |
Het |
| Dram2 |
A |
G |
3: 106,479,012 (GRCm39) |
|
probably benign |
Het |
| Eci2 |
T |
A |
13: 35,162,656 (GRCm39) |
T300S |
probably benign |
Het |
| Egf |
C |
A |
3: 129,533,631 (GRCm39) |
G70* |
probably null |
Het |
| Eif5b |
T |
C |
1: 38,071,403 (GRCm39) |
V444A |
probably benign |
Het |
| Elf3 |
T |
C |
1: 135,185,445 (GRCm39) |
D23G |
possibly damaging |
Het |
| Epb41l4b |
A |
T |
4: 57,103,422 (GRCm39) |
|
probably null |
Het |
| Fam167a |
T |
A |
14: 63,689,708 (GRCm39) |
S2T |
probably benign |
Het |
| Flrt3 |
A |
G |
2: 140,502,608 (GRCm39) |
V340A |
probably damaging |
Het |
| Gimap3 |
T |
C |
6: 48,742,312 (GRCm39) |
E206G |
probably benign |
Het |
| Gp6 |
T |
C |
7: 4,397,103 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,788,101 (GRCm39) |
M581L |
probably damaging |
Het |
| Hapln3 |
A |
G |
7: 78,767,893 (GRCm39) |
V167A |
probably damaging |
Het |
| Hnrnpll |
G |
A |
17: 80,358,142 (GRCm39) |
T203I |
probably benign |
Het |
| Ighv3-6 |
A |
G |
12: 114,251,982 (GRCm39) |
I47T |
probably damaging |
Het |
| Iqgap1 |
G |
A |
7: 80,387,869 (GRCm39) |
T926M |
probably damaging |
Het |
| Lonp1 |
A |
T |
17: 56,922,086 (GRCm39) |
S765T |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,365 (GRCm39) |
S27F |
probably damaging |
Het |
| Lrit2 |
T |
C |
14: 36,790,031 (GRCm39) |
|
probably benign |
Het |
| Luc7l |
C |
A |
17: 26,472,054 (GRCm39) |
T17K |
probably damaging |
Het |
| Mmut |
A |
G |
17: 41,249,708 (GRCm39) |
T228A |
possibly damaging |
Het |
| Mroh1 |
G |
T |
15: 76,330,799 (GRCm39) |
S1161I |
possibly damaging |
Het |
| Muc5b |
T |
G |
7: 141,407,104 (GRCm39) |
C1091G |
unknown |
Het |
| Nppb |
A |
T |
4: 148,070,463 (GRCm39) |
I11F |
probably benign |
Het |
| Nsf |
A |
T |
11: 103,719,351 (GRCm39) |
D650E |
probably benign |
Het |
| Ogdh |
A |
G |
11: 6,305,015 (GRCm39) |
K907E |
probably damaging |
Het |
| Or1b1 |
G |
A |
2: 36,995,437 (GRCm39) |
S75F |
probably benign |
Het |
| Or1j15 |
A |
G |
2: 36,458,820 (GRCm39) |
D70G |
probably damaging |
Het |
| Or7a35 |
A |
G |
10: 78,853,555 (GRCm39) |
Y133C |
probably damaging |
Het |
| Pcnx1 |
A |
T |
12: 81,907,156 (GRCm39) |
Q4L |
possibly damaging |
Het |
| Pgc |
T |
A |
17: 48,037,856 (GRCm39) |
L9H |
probably damaging |
Het |
| Pikfyve |
T |
A |
1: 65,285,556 (GRCm39) |
S887T |
probably benign |
Het |
| Plec |
T |
C |
15: 76,059,815 (GRCm39) |
D3239G |
probably damaging |
Het |
| Pole4 |
T |
C |
6: 82,625,015 (GRCm39) |
T116A |
probably benign |
Het |
| Potegl |
T |
C |
2: 23,120,212 (GRCm39) |
F203L |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,381,498 (GRCm39) |
N300D |
possibly damaging |
Het |
| Rara |
T |
A |
11: 98,858,907 (GRCm39) |
Y119N |
probably damaging |
Het |
| Rbck1 |
G |
T |
2: 152,160,294 (GRCm39) |
R462S |
possibly damaging |
Het |
| Slfn2 |
C |
A |
11: 82,960,670 (GRCm39) |
N216K |
probably benign |
Het |
| Suox |
A |
G |
10: 128,507,967 (GRCm39) |
|
probably benign |
Het |
| Tars1 |
T |
A |
15: 11,391,280 (GRCm39) |
Y283F |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,967,603 (GRCm39) |
|
probably null |
Het |
| Ubtd2 |
A |
T |
11: 32,449,262 (GRCm39) |
K36N |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,448,408 (GRCm39) |
L327P |
probably damaging |
Het |
| Vmn1r11 |
T |
A |
6: 57,114,364 (GRCm39) |
Y9* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,572,227 (GRCm39) |
V948A |
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,192,264 (GRCm39) |
H403R |
probably damaging |
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 |
|
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 |
2015-04-16 |
Incidental Mutation