Incidental Mutation 'R9314:Setdb2'
| ID |
705806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R9314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 59650240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 458
(I458N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095775
AA Change: I474N
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: I474N
| 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 benign
Transcript: ENSMUST00000161459
AA Change: I458N
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: I458N
| 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: 99.7%
- 20x: 99.2%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
C |
17: 24,547,593 (GRCm39) |
N260K |
possibly damaging |
Het |
| Anapc1 |
G |
A |
2: 128,464,420 (GRCm39) |
S1692L |
possibly damaging |
Het |
| Brca2 |
A |
G |
5: 150,474,359 (GRCm39) |
R2421G |
probably damaging |
Het |
| Cad |
A |
G |
5: 31,234,988 (GRCm39) |
Y2143C |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,178,535 (GRCm39) |
D356V |
possibly damaging |
Het |
| Cd207 |
T |
A |
6: 83,652,699 (GRCm39) |
T144S |
probably damaging |
Het |
| Cntln |
T |
C |
4: 84,924,719 (GRCm39) |
L608P |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,990,857 (GRCm39) |
Y3300F |
probably benign |
Het |
| Emb |
T |
C |
13: 117,408,604 (GRCm39) |
I315T |
probably damaging |
Het |
| Esr1 |
T |
A |
10: 4,916,181 (GRCm39) |
V456E |
possibly damaging |
Het |
| Evpl |
A |
T |
11: 116,118,503 (GRCm39) |
H701Q |
probably benign |
Het |
| F5 |
C |
T |
1: 164,029,146 (GRCm39) |
T1715I |
probably benign |
Het |
| Fut10 |
T |
A |
8: 31,691,504 (GRCm39) |
H116Q |
probably damaging |
Het |
| Gm40460 |
ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,447 (GRCm39) |
|
probably benign |
Het |
| Gm5591 |
T |
C |
7: 38,221,884 (GRCm39) |
T62A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,437,708 (GRCm39) |
|
probably null |
Het |
| Ifit1bl1 |
G |
C |
19: 34,576,693 (GRCm39) |
Q3E |
probably benign |
Het |
| Ighg3 |
A |
T |
12: 113,323,946 (GRCm39) |
D147E |
|
Het |
| Ighv8-13 |
A |
G |
12: 115,728,996 (GRCm39) |
V87A |
possibly damaging |
Het |
| Kdelr1 |
A |
G |
7: 45,531,050 (GRCm39) |
T160A |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,372,510 (GRCm39) |
L945P |
probably damaging |
Het |
| Krt36 |
C |
T |
11: 99,994,227 (GRCm39) |
W283* |
probably null |
Het |
| Lamp3 |
T |
C |
16: 19,492,192 (GRCm39) |
M351V |
probably benign |
Het |
| Lox |
C |
G |
18: 52,653,911 (GRCm39) |
R395P |
probably damaging |
Het |
| Lrrtm3 |
T |
C |
10: 63,925,499 (GRCm39) |
|
probably benign |
Het |
| Madcam1 |
C |
A |
10: 79,501,481 (GRCm39) |
T182K |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,029,297 (GRCm39) |
H280Q |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,174 (GRCm39) |
I187T |
probably benign |
Het |
| Muc1 |
T |
C |
3: 89,138,825 (GRCm39) |
V478A |
probably damaging |
Het |
| Mug1 |
T |
G |
6: 121,834,296 (GRCm39) |
V359G |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,151,141 (GRCm39) |
H1932R |
probably benign |
Het |
| Naaladl1 |
A |
C |
19: 6,162,401 (GRCm39) |
N448H |
probably damaging |
Het |
| Or52b1 |
A |
T |
7: 104,979,081 (GRCm39) |
I106N |
probably damaging |
Het |
| Or5a1 |
C |
T |
19: 12,097,144 (GRCm39) |
E311K |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,829,153 (GRCm39) |
Y1480N |
|
Het |
| Poll |
T |
C |
19: 45,547,091 (GRCm39) |
E127G |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,922,367 (GRCm39) |
N305S |
possibly damaging |
Het |
| Prss53 |
A |
G |
7: 127,490,039 (GRCm39) |
V17A |
probably benign |
Het |
| Ptprj |
A |
G |
2: 90,301,631 (GRCm39) |
V74A |
possibly damaging |
Het |
| Rapgef4 |
A |
T |
2: 72,064,983 (GRCm39) |
H804L |
possibly damaging |
Het |
| Rassf8 |
A |
G |
6: 145,762,296 (GRCm39) |
T356A |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,786,772 (GRCm39) |
S1246P |
probably benign |
Het |
| Sgtb |
A |
G |
13: 104,254,933 (GRCm39) |
K68E |
possibly damaging |
Het |
| Slc19a3 |
T |
G |
1: 83,000,094 (GRCm39) |
I308L |
possibly damaging |
Het |
| Slc22a5 |
T |
C |
11: 53,762,487 (GRCm39) |
D320G |
possibly damaging |
Het |
| Slc34a2 |
T |
C |
5: 53,218,143 (GRCm39) |
S141P |
possibly damaging |
Het |
| Slc37a2 |
T |
C |
9: 37,150,482 (GRCm39) |
T158A |
possibly damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,269,327 (GRCm39) |
I598V |
probably benign |
Het |
| Sphk2 |
T |
C |
7: 45,361,158 (GRCm39) |
D282G |
probably damaging |
Het |
| Spty2d1 |
G |
T |
7: 46,648,486 (GRCm39) |
P148T |
probably damaging |
Het |
| Supt3 |
A |
G |
17: 45,352,250 (GRCm39) |
T310A |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,019,799 (GRCm39) |
D457V |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,070,347 (GRCm39) |
G2480R |
probably damaging |
Het |
| Tbcd |
T |
C |
11: 121,487,297 (GRCm39) |
V803A |
probably benign |
Het |
| Tex2 |
A |
T |
11: 106,435,075 (GRCm39) |
C784S |
unknown |
Het |
| Thrb |
A |
G |
14: 17,963,208 (GRCm38) |
H57R |
probably benign |
Het |
| Tmc4 |
T |
C |
7: 3,679,723 (GRCm39) |
T34A |
possibly damaging |
Het |
| Tmprss2 |
T |
C |
16: 97,400,459 (GRCm39) |
N4S |
probably benign |
Het |
| Trank1 |
A |
G |
9: 111,195,049 (GRCm39) |
I1024M |
probably damaging |
Het |
| Trnau1ap |
C |
A |
4: 132,056,697 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,566,710 (GRCm39) |
V28061A |
probably damaging |
Het |
| Txnl4b |
C |
A |
8: 110,299,331 (GRCm39) |
P97Q |
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,854,023 (GRCm39) |
T573A |
probably benign |
Het |
| Vit |
A |
T |
17: 78,927,044 (GRCm39) |
T330S |
probably benign |
Het |
| Wdr3 |
T |
C |
3: 100,050,288 (GRCm39) |
I750V |
probably benign |
Het |
| Zfp59 |
C |
T |
7: 27,554,029 (GRCm39) |
L494F |
possibly 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 |
|
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 |
|
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'- TGATTTCCCTGGAGAGGCATC -3'
(R):5'- GTATCACCATTCTATTTGAAGCCC -3'
Sequencing Primer
(F):5'- GATAGTGTCTTGCTATGTACCCCAAG -3'
(R):5'- ACCATGTCTTCTGGAAGAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation