Incidental Mutation 'R9442:Setdb2'
| ID |
713696 |
| 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: 0.572)
|
| Stock # |
R9442 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
59402009-59440884 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 59402400 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 665
(T665P)
|
| 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: T681P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: T681P
| 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: T665P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: T665P
| 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: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
T |
A |
17: 48,036,771 (GRCm38) |
K241N |
possibly damaging |
Het |
| Adam5 |
A |
T |
8: 24,806,494 (GRCm38) |
S312R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,186,442 (GRCm38) |
C338Y |
possibly damaging |
Het |
| Cage1 |
T |
C |
13: 38,012,471 (GRCm38) |
E749G |
possibly damaging |
Het |
| Catspere2 |
C |
A |
1: 178,103,709 (GRCm38) |
T398K |
unknown |
Het |
| Ccdc88b |
T |
C |
19: 6,855,845 (GRCm38) |
E278G |
probably damaging |
Het |
| Ccndbp1 |
T |
C |
2: 121,008,532 (GRCm38) |
V8A |
probably benign |
Het |
| Cenpt |
T |
C |
8: 105,848,786 (GRCm38) |
D228G |
probably benign |
Het |
| Cfap57 |
A |
G |
4: 118,606,534 (GRCm38) |
|
probably null |
Het |
| Cyp4a32 |
T |
A |
4: 115,611,225 (GRCm38) |
N301K |
probably benign |
Het |
| Epha6 |
T |
C |
16: 60,205,487 (GRCm38) |
T531A |
probably benign |
Het |
| Gmeb1 |
A |
T |
4: 132,234,845 (GRCm38) |
C168S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,138,158 (GRCm38) |
R210H |
possibly damaging |
Het |
| Ighv1-7 |
T |
G |
12: 114,538,578 (GRCm38) |
T90P |
probably damaging |
Het |
| Kalrn |
A |
C |
16: 34,095,879 (GRCm38) |
M1R |
probably null |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,607,560 (GRCm38) |
|
probably benign |
Het |
| Krtap14 |
T |
C |
16: 88,825,977 (GRCm38) |
D38G |
possibly damaging |
Het |
| Lrrc8e |
A |
G |
8: 4,233,964 (GRCm38) |
N63S |
probably benign |
Het |
| Map4k2 |
T |
A |
19: 6,342,784 (GRCm38) |
L152Q |
probably damaging |
Het |
| Mcf2l |
A |
G |
8: 12,973,048 (GRCm38) |
D78G |
possibly damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,472,487 (GRCm38) |
V81A |
probably benign |
Het |
| Mtnr1b |
T |
C |
9: 15,874,364 (GRCm38) |
T33A |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,655,328 (GRCm38) |
Q1965L |
unknown |
Het |
| Nfatc2 |
A |
C |
2: 168,486,978 (GRCm38) |
|
probably benign |
Het |
| Nlrp9b |
C |
T |
7: 20,045,782 (GRCm38) |
T790I |
possibly damaging |
Het |
| Nol4 |
A |
T |
18: 22,769,842 (GRCm38) |
C371S |
probably damaging |
Het |
| Ntn1 |
A |
C |
11: 68,257,659 (GRCm38) |
|
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,589,742 (GRCm38) |
S204P |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,612,160 (GRCm38) |
V727A |
probably benign |
Het |
| Phf20l1 |
C |
T |
15: 66,613,039 (GRCm38) |
Q318* |
probably null |
Het |
| Psg18 |
A |
T |
7: 18,349,260 (GRCm38) |
Y323* |
probably null |
Het |
| Ptk2b |
T |
C |
14: 66,171,740 (GRCm38) |
Y529C |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,459,391 (GRCm38) |
Y374C |
probably damaging |
Het |
| Selp |
T |
A |
1: 164,137,196 (GRCm38) |
F476I |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,601,758 (GRCm38) |
|
probably null |
Het |
| Sorbs3 |
T |
C |
14: 70,186,938 (GRCm38) |
Y515C |
probably damaging |
Het |
| St13 |
G |
A |
15: 81,388,374 (GRCm38) |
P90S |
possibly damaging |
Het |
| Stag1 |
T |
A |
9: 100,954,253 (GRCm38) |
I1197N |
probably damaging |
Het |
| Svs3a |
A |
G |
2: 164,290,259 (GRCm38) |
Y250C |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,270,428 (GRCm38) |
I556V |
probably benign |
Het |
| Vmn1r180 |
A |
G |
7: 23,952,195 (GRCm38) |
|
probably benign |
Het |
| Xirp2 |
T |
A |
2: 67,511,891 (GRCm38) |
L1492* |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,379 (GRCm38) |
V193A |
probably benign |
Het |
| Zfp729b |
A |
G |
13: 67,591,218 (GRCm38) |
V976A |
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 |
|
|
R7759:Setdb2
|
UTSW |
14 |
59,419,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- TACTTGATGAGTGCCCTTATTTTGC -3'
(R):5'- GCAAAACTCCGTTCCACATGG -3'
Sequencing Primer
(F):5'- ATGAGTGCCCTTATTTTGCTTCTAAC -3'
(R):5'- CCTTCTTACATAGGATTTTGGGAGAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation