Incidental Mutation 'R7759:Setdb2'
| ID |
597757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
045815-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.579)
|
| Stock # |
R7759 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59402009-59440884 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59419364 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 168
(T168K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000111253]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095775
AA Change: T184K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: T184K
| 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 damaging
Transcript: ENSMUST00000161459
AA Change: T168K
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: T168K
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
G |
T |
16: 4,864,650 (GRCm38) |
G215V |
probably benign |
Het |
| Adamts1 |
C |
A |
16: 85,797,795 (GRCm38) |
G652C |
probably damaging |
Het |
| Adck1 |
G |
A |
12: 88,402,117 (GRCm38) |
A122T |
possibly damaging |
Het |
| Akap1 |
A |
C |
11: 88,845,833 (GRCm38) |
M34R |
probably damaging |
Het |
| Apc2 |
C |
T |
10: 80,311,196 (GRCm38) |
R695C |
probably damaging |
Het |
| Apon |
T |
A |
10: 128,254,515 (GRCm38) |
W21R |
probably benign |
Het |
| Arhgef16 |
T |
C |
4: 154,286,975 (GRCm38) |
T254A |
probably benign |
Het |
| Arid5b |
T |
A |
10: 68,097,802 (GRCm38) |
S757C |
probably damaging |
Het |
| B020004C17Rik |
A |
C |
14: 57,016,785 (GRCm38) |
I122L |
possibly damaging |
Het |
| Bckdhb |
T |
G |
9: 84,010,326 (GRCm38) |
V270G |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 30,099,188 (GRCm38) |
Y1146H |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 105,697,036 (GRCm38) |
D1214G |
possibly damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,107,931 (GRCm38) |
V636A |
probably benign |
Het |
| Chd9 |
T |
C |
8: 90,977,550 (GRCm38) |
|
probably null |
Het |
| Csmd3 |
A |
G |
15: 47,698,173 (GRCm38) |
S1336P |
|
Het |
| Cubn |
A |
G |
2: 13,348,150 (GRCm38) |
Y1926H |
probably damaging |
Het |
| Dock4 |
A |
T |
12: 40,817,736 (GRCm38) |
D1437V |
probably damaging |
Het |
| Eme1 |
A |
T |
11: 94,645,840 (GRCm38) |
Y504* |
probably null |
Het |
| Enah |
G |
A |
1: 181,918,444 (GRCm38) |
A687V |
unknown |
Het |
| Endou |
A |
C |
15: 97,713,866 (GRCm38) |
V339G |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,614,605 (GRCm38) |
R232H |
probably benign |
Het |
| Ephx2 |
G |
A |
14: 66,089,519 (GRCm38) |
A409V |
possibly damaging |
Het |
| Esd |
T |
A |
14: 74,745,567 (GRCm38) |
C219* |
probably null |
Het |
| Fscb |
A |
T |
12: 64,474,092 (GRCm38) |
M200K |
probably benign |
Het |
| Gabra6 |
A |
T |
11: 42,317,681 (GRCm38) |
V108D |
probably damaging |
Het |
| Gm11555 |
A |
G |
11: 99,649,742 (GRCm38) |
V137A |
unknown |
Het |
| Gpld1 |
A |
G |
13: 24,962,400 (GRCm38) |
D209G |
probably damaging |
Het |
| Ikzf1 |
T |
A |
11: 11,769,256 (GRCm38) |
I408N |
probably damaging |
Het |
| Itgb4 |
A |
G |
11: 116,003,710 (GRCm38) |
R1364G |
possibly damaging |
Het |
| Kif26b |
A |
C |
1: 178,678,944 (GRCm38) |
K195T |
probably damaging |
Het |
| Mfsd12 |
T |
C |
10: 81,363,593 (GRCm38) |
W440R |
probably benign |
Het |
| Mtrr |
C |
T |
13: 68,570,027 (GRCm38) |
E373K |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,081,358 (GRCm38) |
V1293E |
probably damaging |
Het |
| Myof |
C |
A |
19: 37,939,898 (GRCm38) |
A1068S |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,615,784 (GRCm38) |
D720G |
probably damaging |
Het |
| Nova2 |
G |
T |
7: 18,958,251 (GRCm38) |
G435V |
|
Het |
| Oacyl |
T |
A |
18: 65,710,560 (GRCm38) |
D109E |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,280,636 (GRCm38) |
M163L |
probably benign |
Het |
| Or56a4 |
G |
A |
7: 105,157,025 (GRCm38) |
S219F |
probably damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,113,198 (GRCm38) |
V941M |
possibly damaging |
Het |
| Pdzd8 |
C |
A |
19: 59,299,926 (GRCm38) |
R1014L |
probably damaging |
Het |
| Ppm1h |
T |
G |
10: 122,904,113 (GRCm38) |
D364E |
probably benign |
Het |
| Rigi |
C |
A |
4: 40,225,104 (GRCm38) |
A298S |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,344,884 (GRCm38) |
N2002D |
probably benign |
Het |
| Sall1 |
C |
T |
8: 89,042,351 (GRCm38) |
|
probably null |
Het |
| Scn10a |
C |
T |
9: 119,648,132 (GRCm38) |
W728* |
probably null |
Het |
| Sgms1 |
T |
C |
19: 32,159,876 (GRCm38) |
I97V |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,314,551 (GRCm38) |
M498K |
probably benign |
Het |
| Smpd4 |
A |
T |
16: 17,638,633 (GRCm38) |
E362D |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,937,530 (GRCm38) |
K881* |
probably null |
Het |
| Strn4 |
A |
G |
7: 16,830,384 (GRCm38) |
E313G |
probably damaging |
Het |
| Tas2r113 |
A |
T |
6: 132,893,927 (GRCm38) |
N306I |
possibly damaging |
Het |
| Tdrd6 |
G |
T |
17: 43,624,839 (GRCm38) |
R1773S |
probably benign |
Het |
| Thbs2 |
T |
C |
17: 14,677,059 (GRCm38) |
E729G |
probably damaging |
Het |
| Tnfrsf23 |
G |
A |
7: 143,670,835 (GRCm38) |
T135I |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,884,539 (GRCm38) |
M218T |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,120,258 (GRCm38) |
|
probably null |
Het |
| Ubr2 |
G |
A |
17: 46,986,048 (GRCm38) |
R269C |
probably damaging |
Het |
| Uggt1 |
A |
T |
1: 36,146,725 (GRCm38) |
M1459K |
possibly damaging |
Het |
| Upf1 |
A |
G |
8: 70,334,080 (GRCm38) |
V929A |
probably benign |
Het |
| Usp48 |
T |
C |
4: 137,594,452 (GRCm38) |
S24P |
probably benign |
Het |
| Vmn1r214 |
G |
A |
13: 23,034,461 (GRCm38) |
E42K |
not run |
Het |
| Vmn1r83 |
G |
T |
7: 12,321,433 (GRCm38) |
D232E |
probably benign |
Het |
| Vmn2r25 |
C |
T |
6: 123,823,380 (GRCm38) |
V668I |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,556,570 (GRCm38) |
I281T |
probably damaging |
Het |
| Ywhag |
A |
T |
5: 135,911,189 (GRCm38) |
Y184N |
probably damaging |
Het |
| Zdbf2 |
A |
C |
1: 63,308,376 (GRCm38) |
E1971D |
possibly damaging |
Het |
| Zfp568 |
G |
A |
7: 30,023,414 (GRCm38) |
A595T |
possibly damaging |
Het |
| Zfy2 |
T |
C |
Y: 2,117,083 (GRCm38) |
D248G |
probably benign |
Het |
|
| Other mutations in Setdb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Setdb2
|
APN |
14 |
59,415,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01695:Setdb2
|
APN |
14 |
59,402,293 (GRCm38) |
utr 3 prime |
probably benign |
|
|
IGL01720:Setdb2
|
APN |
14 |
59,423,436 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
IGL02003:Setdb2
|
APN |
14 |
59,413,490 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02023:Setdb2
|
APN |
14 |
59,431,158 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02108:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02113:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02114:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02115:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02116:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02117:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02141:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02148:Setdb2
|
APN |
14 |
59,402,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0419:Setdb2
|
UTSW |
14 |
59,406,744 (GRCm38) |
splice site |
probably null |
|
|
R0610:Setdb2
|
UTSW |
14 |
59,417,470 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0636:Setdb2
|
UTSW |
14 |
59,406,704 (GRCm38) |
missense |
probably benign |
0.40 |
|
R0890:Setdb2
|
UTSW |
14 |
59,419,220 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R0931:Setdb2
|
UTSW |
14 |
59,423,496 (GRCm38) |
splice site |
probably benign |
|
|
R1355:Setdb2
|
UTSW |
14 |
59,417,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1553:Setdb2
|
UTSW |
14 |
59,417,485 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1968:Setdb2
|
UTSW |
14 |
59,419,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2472:Setdb2
|
UTSW |
14 |
59,419,454 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
R2894:Setdb2
|
UTSW |
14 |
59,426,467 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3919:Setdb2
|
UTSW |
14 |
59,419,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4609:Setdb2
|
UTSW |
14 |
59,415,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4629:Setdb2
|
UTSW |
14 |
59,409,359 (GRCm38) |
missense |
probably benign |
0.13 |
|
R4816:Setdb2
|
UTSW |
14 |
59,413,646 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4864:Setdb2
|
UTSW |
14 |
59,409,266 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4951:Setdb2
|
UTSW |
14 |
59,402,303 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R5040:Setdb2
|
UTSW |
14 |
59,415,707 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5245:Setdb2
|
UTSW |
14 |
59,426,494 (GRCm38) |
missense |
probably null |
0.00 |
|
R5358:Setdb2
|
UTSW |
14 |
59,409,436 (GRCm38) |
missense |
probably benign |
0.17 |
|
R5656:Setdb2
|
UTSW |
14 |
59,419,118 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5705:Setdb2
|
UTSW |
14 |
59,423,365 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R6103:Setdb2
|
UTSW |
14 |
59,409,532 (GRCm38) |
splice site |
probably null |
|
|
R6106:Setdb2
|
UTSW |
14 |
59,423,449 (GRCm38) |
nonsense |
probably null |
|
|
R6388:Setdb2
|
UTSW |
14 |
59,424,697 (GRCm38) |
missense |
probably benign |
|
|
R6431:Setdb2
|
UTSW |
14 |
59,419,056 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6494:Setdb2
|
UTSW |
14 |
59,402,414 (GRCm38) |
missense |
probably benign |
0.12 |
|
R6971:Setdb2
|
UTSW |
14 |
59,415,740 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7442:Setdb2
|
UTSW |
14 |
59,419,251 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7444:Setdb2
|
UTSW |
14 |
59,423,345 (GRCm38) |
nonsense |
probably null |
|
|
R8021:Setdb2
|
UTSW |
14 |
59,423,384 (GRCm38) |
nonsense |
probably null |
|
|
R8039:Setdb2
|
UTSW |
14 |
59,402,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8261:Setdb2
|
UTSW |
14 |
59,413,692 (GRCm38) |
splice site |
probably benign |
|
|
R8393:Setdb2
|
UTSW |
14 |
59,412,731 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8513:Setdb2
|
UTSW |
14 |
59,402,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8700:Setdb2
|
UTSW |
14 |
59,417,439 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8707:Setdb2
|
UTSW |
14 |
59,423,458 (GRCm38) |
nonsense |
probably null |
|
|
R8940:Setdb2
|
UTSW |
14 |
59,409,507 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9217:Setdb2
|
UTSW |
14 |
59,409,432 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
R9314:Setdb2
|
UTSW |
14 |
59,412,791 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9336:Setdb2
|
UTSW |
14 |
59,423,367 (GRCm38) |
missense |
unknown |
|
|
R9442:Setdb2
|
UTSW |
14 |
59,402,400 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9525:Setdb2
|
UTSW |
14 |
59,409,392 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9743:Setdb2
|
UTSW |
14 |
59,413,553 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0017:Setdb2
|
UTSW |
14 |
59,419,468 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCGACACTGATTCCACTCCATTAC -3'
(R):5'- CCTCCCTGTGAAGAATAAAGCTG -3'
Sequencing Primer
(F):5'- CCACGTCAGAAACAACTTCATTTTG -3'
(R):5'- TGACAATTTAGTGAAAAAGGAAGCCC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation