Incidental Mutation 'R6971:Setdb2'
| ID |
542270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
045081-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R6971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59653189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 371
(L371Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095775
AA Change: L387Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: L387Q
| 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 damaging
Transcript: ENSMUST00000161459
AA Change: L371Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: L371Q
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
96% (47/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,903 (GRCm39) |
T32S |
possibly damaging |
Het |
| 2210408I21Rik |
A |
G |
13: 77,341,306 (GRCm39) |
S52G |
possibly damaging |
Het |
| Aadacl4 |
G |
A |
4: 144,349,303 (GRCm39) |
V187M |
probably damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,273,476 (GRCm39) |
Q1094L |
probably benign |
Het |
| Amigo1 |
C |
T |
3: 108,095,452 (GRCm39) |
S317L |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,424,831 (GRCm39) |
F32L |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,766,392 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
A |
T |
12: 100,920,486 (GRCm39) |
D378E |
probably damaging |
Het |
| Ccdc97 |
G |
T |
7: 25,414,384 (GRCm39) |
Y123* |
probably null |
Het |
| Cdk10 |
T |
A |
8: 123,954,413 (GRCm39) |
M46K |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 20,099,275 (GRCm39) |
|
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,177 (GRCm39) |
N254Y |
possibly damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,428 (GRCm39) |
R768* |
probably null |
Het |
| Glra1 |
A |
T |
11: 55,427,325 (GRCm39) |
Y3* |
probably null |
Het |
| Gltpd2 |
A |
G |
11: 70,411,290 (GRCm39) |
T194A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,526 (GRCm39) |
L2301* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,868,802 (GRCm39) |
M1L |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,322,333 (GRCm39) |
E4133K |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,699 (GRCm39) |
L714I |
probably damaging |
Het |
| Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,674,510 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,154,366 (GRCm39) |
Y224N |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,440,646 (GRCm39) |
L624S |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,597,335 (GRCm39) |
Y720H |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,042 (GRCm39) |
F139L |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,846,305 (GRCm39) |
V72A |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,638 (GRCm39) |
V37E |
possibly damaging |
Het |
| Pde2a |
T |
A |
7: 101,159,520 (GRCm39) |
Y783* |
probably null |
Het |
| Pfkfb2 |
A |
G |
1: 130,628,533 (GRCm39) |
Y358H |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,759,258 (GRCm39) |
S23P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,378,477 (GRCm39) |
|
probably null |
Het |
| Prss36 |
T |
C |
7: 127,544,410 (GRCm39) |
T92A |
probably benign |
Het |
| Rnft2 |
A |
G |
5: 118,332,635 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,895,868 (GRCm39) |
V971A |
possibly damaging |
Het |
| Sec63 |
A |
G |
10: 42,659,438 (GRCm39) |
E42G |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,042,437 (GRCm39) |
I807F |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,686,974 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
T |
C |
17: 86,406,718 (GRCm39) |
I556V |
possibly damaging |
Het |
| Stim2 |
T |
A |
5: 54,275,641 (GRCm39) |
C605* |
probably null |
Het |
| Tecrl |
T |
C |
5: 83,502,649 (GRCm39) |
T67A |
possibly damaging |
Het |
| Ttc33 |
C |
A |
15: 5,241,523 (GRCm39) |
A116E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,772,393 (GRCm39) |
T2503I |
possibly damaging |
Het |
| Ubp1 |
T |
C |
9: 113,801,831 (GRCm39) |
I468T |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,668,115 (GRCm39) |
H74Q |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,826,252 (GRCm39) |
I2224T |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,400 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,166,668 (GRCm39) |
M821T |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,001,625 (GRCm39) |
A866S |
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 |
|
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 |
|
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'- AGCGCTTGGTACCTTATGGC -3'
(R):5'- GCTAGTCAACCCAGGCAATC -3'
Sequencing Primer
(F):5'- CATTACGGATGGTTGTAAGCCACC -3'
(R):5'- AGGCAATCTAACCTTACACTACTTTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation