Incidental Mutation 'R0931:Setdb2'
| ID |
80917 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
039075-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R0931 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 59660945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000111253]
[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 |
probably benign
Transcript: ENSMUST00000111253
|
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (42/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,168,084 (GRCm39) |
A476T |
probably benign |
Het |
| Ajm1 |
T |
C |
2: 25,468,501 (GRCm39) |
E470G |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,339 (GRCm39) |
S118P |
probably damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,728,041 (GRCm39) |
T85A |
probably benign |
Het |
| Astn2 |
A |
G |
4: 65,566,530 (GRCm39) |
L824P |
probably damaging |
Het |
| Ccr1 |
C |
A |
9: 123,763,827 (GRCm39) |
K234N |
probably damaging |
Het |
| Cfap46 |
T |
C |
7: 139,235,757 (GRCm39) |
R203G |
probably damaging |
Het |
| Col8a1 |
A |
G |
16: 57,448,931 (GRCm39) |
I193T |
unknown |
Het |
| Cpa2 |
T |
C |
6: 30,552,070 (GRCm39) |
|
probably benign |
Het |
| Crabp1 |
T |
C |
9: 54,675,717 (GRCm39) |
L100P |
possibly damaging |
Het |
| Cspp1 |
A |
T |
1: 10,174,511 (GRCm39) |
R655W |
probably damaging |
Het |
| Ddx1 |
A |
T |
12: 13,287,818 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,138,772 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
A |
G |
16: 48,771,921 (GRCm39) |
S583P |
probably damaging |
Het |
| Exosc1 |
A |
G |
19: 41,921,676 (GRCm39) |
|
probably benign |
Het |
| Fhip1a |
A |
G |
3: 85,580,550 (GRCm39) |
S552P |
probably benign |
Het |
| Gas7 |
A |
T |
11: 67,543,751 (GRCm39) |
|
probably benign |
Het |
| Gss |
A |
T |
2: 155,409,609 (GRCm39) |
|
probably benign |
Het |
| Hdhd3 |
G |
A |
4: 62,417,757 (GRCm39) |
R140* |
probably null |
Het |
| Irx2 |
T |
A |
13: 72,779,675 (GRCm39) |
S320T |
possibly damaging |
Het |
| Kcnf1 |
T |
C |
12: 17,225,142 (GRCm39) |
S360G |
possibly damaging |
Het |
| Klk1b4 |
T |
C |
7: 43,860,480 (GRCm39) |
L166P |
probably damaging |
Het |
| Klri1 |
A |
T |
6: 129,674,381 (GRCm39) |
|
probably benign |
Het |
| Mettl27 |
T |
C |
5: 134,963,285 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,675,354 (GRCm39) |
H193L |
probably benign |
Het |
| Nbas |
C |
T |
12: 13,381,115 (GRCm39) |
|
probably benign |
Het |
| Or10ac1 |
C |
A |
6: 42,515,020 (GRCm39) |
R312L |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,736 (GRCm39) |
Y62* |
probably null |
Het |
| Papolg |
A |
G |
11: 23,832,257 (GRCm39) |
I177T |
probably damaging |
Het |
| Pdcd1 |
A |
G |
1: 93,967,238 (GRCm39) |
V220A |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,341 (GRCm39) |
L234P |
probably damaging |
Het |
| Rasa2 |
A |
T |
9: 96,434,457 (GRCm39) |
M610K |
possibly damaging |
Het |
| Ryr3 |
A |
G |
2: 112,484,047 (GRCm39) |
F3930S |
probably damaging |
Het |
| Sacs |
G |
A |
14: 61,440,944 (GRCm39) |
V997I |
probably benign |
Het |
| Ssu2 |
C |
A |
6: 112,361,359 (GRCm39) |
L32F |
probably damaging |
Het |
| Taar1 |
A |
T |
10: 23,797,181 (GRCm39) |
N293I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,611,846 (GRCm39) |
|
probably benign |
Het |
| Vmn2r49 |
T |
C |
7: 9,720,325 (GRCm39) |
M389V |
possibly damaging |
Het |
| Wdr7 |
T |
C |
18: 63,998,371 (GRCm39) |
V1106A |
probably benign |
Het |
| Zfp324 |
A |
G |
7: 12,700,185 (GRCm39) |
I15V |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGACACTGAGCTGACACTGGAGG -3'
(R):5'- GCCTGCAAACACTATGCCACTTG -3'
Sequencing Primer
(F):5'- GACACTGGAGGCCATTTTAATATTC -3'
(R):5'- CTCGGGAGCAGTTTTTCCAAAG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation