Incidental Mutation 'R6494:Setdb2'
| ID |
522977 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
044626-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.579)
|
| Stock # |
R6494 (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 A
at 59402414 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 676
(Y676F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095775
AA Change: Y676F
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: Y676F
| 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 |
noncoding transcript
Transcript: ENSMUST00000159640
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161459
AA Change: Y660F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: Y660F
| 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 |
0.0937 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 97.8%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700022I11Rik |
A |
G |
4: 42,971,924 (GRCm38) |
N419S |
possibly damaging |
Het |
| Akt2 |
T |
C |
7: 27,616,349 (GRCm38) |
L52P |
possibly damaging |
Het |
| Chd1l |
G |
A |
3: 97,587,167 (GRCm38) |
A399V |
probably damaging |
Het |
| Chic2 |
T |
C |
5: 75,044,282 (GRCm38) |
E6G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,957,298 (GRCm38) |
T597S |
probably benign |
Het |
| Col5a2 |
C |
A |
1: 45,378,327 (GRCm38) |
D1363Y |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,211,695 (GRCm38) |
|
probably null |
Het |
| Dnah7b |
A |
T |
1: 46,099,431 (GRCm38) |
Y211F |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 105,100,019 (GRCm38) |
Y5460F |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 84,044,322 (GRCm38) |
|
probably null |
Het |
| Eno4 |
T |
A |
19: 58,962,794 (GRCm38) |
Y237N |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 156,045,470 (GRCm38) |
D602V |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 130,198,550 (GRCm38) |
N337S |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,759,564 (GRCm38) |
R3203C |
possibly damaging |
Het |
| Gbp2 |
T |
A |
3: 142,632,008 (GRCm38) |
V295E |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,464,305 (GRCm38) |
|
probably benign |
Het |
| Hyal4 |
A |
G |
6: 24,765,746 (GRCm38) |
I366M |
possibly damaging |
Het |
| Itsn2 |
C |
T |
12: 4,634,792 (GRCm38) |
R448* |
probably null |
Het |
| Klhl35 |
G |
T |
7: 99,472,899 (GRCm38) |
W69L |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,181,648 (GRCm38) |
I154V |
probably benign |
Het |
| Lax1 |
T |
A |
1: 133,680,448 (GRCm38) |
Y185F |
probably damaging |
Het |
| Mmp12 |
C |
T |
9: 7,353,479 (GRCm38) |
P208L |
probably damaging |
Het |
| Ndufb8 |
C |
T |
19: 44,555,305 (GRCm38) |
V33M |
probably null |
Het |
| Nptn |
T |
G |
9: 58,623,752 (GRCm38) |
C169G |
probably damaging |
Het |
| Nuggc |
A |
T |
14: 65,648,222 (GRCm38) |
E766V |
probably damaging |
Het |
| Olfr1117-ps1 |
A |
T |
2: 87,309,176 (GRCm38) |
N149I |
possibly damaging |
Het |
| Olfr1150-ps1 |
A |
T |
2: 87,357,632 (GRCm38) |
K63* |
probably null |
Het |
| Pcdhga6 |
T |
A |
18: 37,708,541 (GRCm38) |
I438N |
probably damaging |
Het |
| Pkn2 |
T |
C |
3: 142,803,668 (GRCm38) |
N721S |
possibly damaging |
Het |
| Pole |
T |
C |
5: 110,324,722 (GRCm38) |
W1590R |
possibly damaging |
Het |
| Prph2 |
A |
G |
17: 46,911,081 (GRCm38) |
T129A |
probably benign |
Het |
| Ptpro |
A |
T |
6: 137,382,642 (GRCm38) |
K403N |
probably benign |
Het |
| Rbck1 |
T |
C |
2: 152,330,966 (GRCm38) |
D54G |
possibly damaging |
Het |
| Serpinb7 |
T |
A |
1: 107,435,346 (GRCm38) |
L80* |
probably null |
Het |
| Skint1 |
G |
T |
4: 112,010,712 (GRCm38) |
C12F |
probably benign |
Het |
| Slc22a26 |
T |
A |
19: 7,802,286 (GRCm38) |
D55V |
probably damaging |
Het |
| Slc9a8 |
G |
A |
2: 167,424,291 (GRCm38) |
V63I |
probably damaging |
Het |
| Sox2 |
T |
A |
3: 34,651,097 (GRCm38) |
S228T |
probably benign |
Het |
| Spg11 |
A |
G |
2: 122,113,225 (GRCm38) |
S149P |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 53,829,383 (GRCm38) |
S45T |
probably benign |
Het |
| Tsacc |
T |
C |
3: 88,295,396 (GRCm38) |
E11G |
probably benign |
Het |
| Ttc7b |
C |
T |
12: 100,495,407 (GRCm38) |
A104T |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Zfp108 |
T |
A |
7: 24,261,357 (GRCm38) |
F458I |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 74,085,192 (GRCm38) |
K762N |
probably damaging |
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 |
|
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 |
|
|
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'- ACTTGATGAGTGCCCTTATTTTGC -3'
(R):5'- GCAAAACTCCGTTCCACATG -3'
Sequencing Primer
(F):5'- ATGAGTGCCCTTATTTTGCTTCTAAC -3'
(R):5'- CCTTCTTACATAGGATTTTGGGAGAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation