Incidental Mutation 'R1553:Setdb2'
| ID |
170112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
039592-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.544)
|
| Stock # |
R1553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59654934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 319
(K319E)
|
| 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: K319E
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: K319E
| 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: K303E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: K303E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161959
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
G |
T |
5: 24,613,748 (GRCm39) |
A649S |
probably damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,835 (GRCm39) |
C403S |
probably damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,766,896 (GRCm39) |
F417S |
possibly damaging |
Het |
| Ago1 |
T |
C |
4: 126,334,194 (GRCm39) |
E439G |
probably damaging |
Het |
| Alox15 |
A |
G |
11: 70,240,458 (GRCm39) |
V241A |
possibly damaging |
Het |
| Arhgap6 |
A |
G |
X: 168,048,480 (GRCm39) |
H566R |
probably damaging |
Het |
| Asap1 |
A |
T |
15: 64,024,701 (GRCm39) |
F345I |
probably benign |
Het |
| Atp1b2 |
A |
G |
11: 69,493,678 (GRCm39) |
Y134H |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,368,376 (GRCm39) |
T199M |
probably damaging |
Het |
| Calb1 |
A |
T |
4: 15,895,656 (GRCm39) |
S115C |
probably damaging |
Het |
| Ccdc68 |
A |
T |
18: 70,073,192 (GRCm39) |
I47F |
probably damaging |
Het |
| Cdc42bpa |
A |
T |
1: 179,921,540 (GRCm39) |
N560I |
probably benign |
Het |
| Cdhr3 |
T |
C |
12: 33,092,370 (GRCm39) |
D747G |
probably benign |
Het |
| Cdk5rap1 |
T |
G |
2: 154,194,171 (GRCm39) |
N378T |
probably damaging |
Het |
| Chil4 |
T |
G |
3: 106,111,006 (GRCm39) |
N296T |
probably benign |
Het |
| Cryaa |
G |
A |
17: 31,898,533 (GRCm39) |
V87I |
probably damaging |
Het |
| Csk |
G |
A |
9: 57,538,225 (GRCm39) |
L28F |
probably damaging |
Het |
| Cspp1 |
A |
G |
1: 10,156,122 (GRCm39) |
N444D |
possibly damaging |
Het |
| Cyp2j8 |
A |
G |
4: 96,363,794 (GRCm39) |
Y290H |
probably benign |
Het |
| Eps8l1 |
A |
T |
7: 4,480,448 (GRCm39) |
D563V |
probably damaging |
Het |
| Fam111a |
A |
T |
19: 12,564,682 (GRCm39) |
S144C |
possibly damaging |
Het |
| Fam135a |
A |
T |
1: 24,060,951 (GRCm39) |
S1145R |
probably damaging |
Het |
| Fpr2 |
T |
A |
17: 18,113,856 (GRCm39) |
V284D |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,048,340 (GRCm39) |
|
probably null |
Het |
| Gatd1 |
T |
C |
7: 140,989,806 (GRCm39) |
T135A |
probably benign |
Het |
| Gdf3 |
A |
G |
6: 122,586,724 (GRCm39) |
S68P |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,195,822 (GRCm39) |
H305R |
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,890,756 (GRCm39) |
S917G |
probably damaging |
Het |
| Hdac10 |
T |
A |
15: 89,009,718 (GRCm39) |
E388V |
possibly damaging |
Het |
| Hectd1 |
T |
C |
12: 51,820,661 (GRCm39) |
N1176S |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,487,322 (GRCm39) |
D3439G |
probably benign |
Het |
| Kcna4 |
T |
C |
2: 107,127,032 (GRCm39) |
Y589H |
probably benign |
Het |
| Kcnk5 |
A |
T |
14: 20,192,462 (GRCm39) |
L233Q |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,790,397 (GRCm39) |
I453T |
probably damaging |
Het |
| Kifc3 |
A |
G |
8: 95,833,170 (GRCm39) |
I440T |
possibly damaging |
Het |
| Krt10 |
C |
A |
11: 99,276,806 (GRCm39) |
G40* |
probably null |
Het |
| Lce1i |
A |
T |
3: 92,685,102 (GRCm39) |
C25S |
unknown |
Het |
| Met |
A |
G |
6: 17,491,460 (GRCm39) |
N74S |
probably benign |
Het |
| Naa35 |
G |
A |
13: 59,766,093 (GRCm39) |
|
probably null |
Het |
| Naalad2 |
T |
C |
9: 18,289,965 (GRCm39) |
N221S |
probably benign |
Het |
| Nolc1 |
AGCG |
AGCGGCG |
19: 46,069,814 (GRCm39) |
|
probably benign |
Het |
| Nsmf |
T |
C |
2: 24,950,271 (GRCm39) |
V181A |
probably damaging |
Het |
| Nwd2 |
T |
A |
5: 63,957,848 (GRCm39) |
S393T |
probably benign |
Het |
| Or12j3 |
T |
A |
7: 139,952,951 (GRCm39) |
T191S |
probably damaging |
Het |
| Or2d3c |
A |
T |
7: 106,526,201 (GRCm39) |
V155E |
possibly damaging |
Het |
| Or51a6 |
T |
A |
7: 102,604,425 (GRCm39) |
I128L |
possibly damaging |
Het |
| Papola |
T |
A |
12: 105,786,669 (GRCm39) |
S453R |
probably benign |
Het |
| Paqr9 |
A |
G |
9: 95,442,262 (GRCm39) |
N84S |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,572,585 (GRCm39) |
V290A |
probably benign |
Het |
| Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
| Psg18 |
T |
C |
7: 18,087,406 (GRCm39) |
Y84C |
probably benign |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,783 (GRCm39) |
R1021H |
probably damaging |
Het |
| Rnf114 |
G |
T |
2: 167,354,522 (GRCm39) |
R201L |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,269,343 (GRCm39) |
E1643G |
probably benign |
Het |
| Scg3 |
T |
A |
9: 75,576,586 (GRCm39) |
E263V |
probably null |
Het |
| Scn2a |
C |
T |
2: 65,544,180 (GRCm39) |
R854* |
probably null |
Het |
| Stub1 |
A |
T |
17: 26,051,097 (GRCm39) |
V95E |
probably damaging |
Het |
| Tas2r140 |
T |
A |
6: 133,032,471 (GRCm39) |
N96Y |
probably damaging |
Het |
| Tecta |
T |
A |
9: 42,259,482 (GRCm39) |
D1467V |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,456 (GRCm39) |
T2044S |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,770 (GRCm39) |
M438L |
probably benign |
Het |
| Tmem179 |
T |
C |
12: 112,471,094 (GRCm39) |
Y106C |
probably benign |
Het |
| Tspan7 |
A |
G |
X: 10,451,854 (GRCm39) |
H187R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,757,619 (GRCm39) |
D3332G |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,152 (GRCm39) |
F326S |
probably damaging |
Het |
| Usp2 |
T |
A |
9: 44,003,452 (GRCm39) |
D224E |
probably damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,483 (GRCm39) |
F53I |
probably benign |
Het |
| Wapl |
T |
A |
14: 34,451,147 (GRCm39) |
L727H |
probably damaging |
Het |
| Wipf1 |
T |
C |
2: 73,267,870 (GRCm39) |
D176G |
possibly damaging |
Het |
| Xpnpep1 |
G |
T |
19: 52,994,769 (GRCm39) |
D243E |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
possibly damaging |
Het |
| Zfyve26 |
G |
A |
12: 79,334,535 (GRCm39) |
P161L |
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 |
|
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 |
|
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'- CCAGACTTGAAGCAGCAGAGTGAATAC -3'
(R):5'- GGCCTACCTTGTTTAGAGAGGTTTCCA -3'
Sequencing Primer
(F):5'- tgaagaaaacaaacaaggtggatag -3'
(R):5'- CAGTTTTACTGAGTCTCATAACTTGC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation