Incidental Mutation 'R8393:Setdb2'
| ID |
647486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
067811-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R8393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 59650180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 478
(H478L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095775
AA Change: H494L
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: H494L
| 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: H478L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: H478L
| 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: 99.6%
- 20x: 98.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,617,390 (GRCm39) |
T239A |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,582,477 (GRCm39) |
S258P |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,871,130 (GRCm39) |
D313E |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,770,650 (GRCm39) |
V448A |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,566 (GRCm39) |
V256A |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,222,465 (GRCm39) |
T742A |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,525,255 (GRCm39) |
R186L |
possibly damaging |
Het |
| Dazl |
A |
T |
17: 50,588,294 (GRCm39) |
S294T |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,947,855 (GRCm39) |
V2982F |
probably damaging |
Het |
| Enpp3 |
C |
A |
10: 24,702,139 (GRCm39) |
C71F |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,149 (GRCm39) |
C177R |
probably damaging |
Het |
| Fbxl5 |
A |
C |
5: 43,925,433 (GRCm39) |
Y186D |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,494 (GRCm39) |
T238A |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,806,815 (GRCm39) |
H2261R |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,183,207 (GRCm39) |
H148Y |
probably damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Gpr45 |
C |
A |
1: 43,071,395 (GRCm39) |
H13N |
probably benign |
Het |
| Irf4 |
A |
G |
13: 30,947,610 (GRCm39) |
D438G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,964 (GRCm39) |
V190A |
probably benign |
Het |
| Klre1 |
A |
T |
6: 129,557,025 (GRCm39) |
K42N |
probably damaging |
Het |
| Lmbrd2 |
C |
T |
15: 9,178,437 (GRCm39) |
T499M |
probably damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,398 (GRCm39) |
G345C |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,748 (GRCm39) |
H251R |
possibly damaging |
Het |
| Mpnd |
A |
G |
17: 56,323,568 (GRCm39) |
E477G |
probably damaging |
Het |
| Muc17 |
C |
T |
5: 137,171,179 (GRCm39) |
V151I |
|
Het |
| Nckap5l |
A |
C |
15: 99,325,050 (GRCm39) |
C484W |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,195,266 (GRCm39) |
S354N |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,261 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,342 (GRCm39) |
E112* |
probably null |
Het |
| Or52ab2 |
A |
T |
7: 102,969,668 (GRCm39) |
I17F |
|
Het |
| Or52e3 |
T |
C |
7: 102,869,399 (GRCm39) |
V158A |
probably benign |
Het |
| Or5w11 |
T |
C |
2: 87,459,197 (GRCm39) |
L14P |
probably damaging |
Het |
| Or6c65 |
G |
T |
10: 129,604,304 (GRCm39) |
*313L |
probably null |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,435 (GRCm39) |
P372L |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,791,621 (GRCm39) |
N1103D |
probably damaging |
Het |
| Prelid2 |
C |
T |
18: 42,014,313 (GRCm39) |
C171Y |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,942,890 (GRCm39) |
Q229R |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,578,487 (GRCm39) |
V1003A |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,678,156 (GRCm39) |
H701Q |
possibly damaging |
Het |
| Resf1 |
A |
T |
6: 149,229,998 (GRCm39) |
T1015S |
possibly damaging |
Het |
| Rmdn2 |
T |
C |
17: 79,975,459 (GRCm39) |
|
probably null |
Het |
| Robo2 |
A |
T |
16: 73,775,382 (GRCm39) |
W451R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,410,655 (GRCm39) |
M1K |
probably null |
Het |
| Senp2 |
G |
A |
16: 21,850,864 (GRCm39) |
G294R |
probably damaging |
Het |
| Slc12a4 |
G |
T |
8: 106,678,451 (GRCm39) |
A295E |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,319,698 (GRCm39) |
V606M |
probably damaging |
Het |
| Slc25a30 |
T |
C |
14: 76,012,451 (GRCm39) |
K66E |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,732,331 (GRCm39) |
E319G |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,422,360 (GRCm39) |
T617S |
probably benign |
Het |
| Speer4a3 |
A |
T |
5: 26,158,076 (GRCm39) |
V92E |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,676,615 (GRCm39) |
D652A |
probably benign |
Het |
| Stag3 |
T |
C |
5: 138,295,017 (GRCm39) |
M347T |
probably damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,911,191 (GRCm39) |
D1076V |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,651,648 (GRCm39) |
V288I |
probably benign |
Het |
| Usp30 |
C |
T |
5: 114,259,826 (GRCm39) |
R511* |
probably null |
Het |
| Vezt |
T |
C |
10: 93,832,704 (GRCm39) |
T236A |
probably damaging |
Het |
| Zmynd12 |
A |
T |
4: 119,305,352 (GRCm39) |
D264V |
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 |
|
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 |
|
|
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'- ACAATGGTTGATTTCCCTGGAG -3'
(R):5'- GTATCACCATTCTATTTGAAGCCC -3'
Sequencing Primer
(F):5'- GATTTCCCTGGAGAGGCATC -3'
(R):5'- ACCATGTCTTCTGGAAGAGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation