Incidental Mutation 'R6431:Setdb2'
| ID |
518561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setdb2
|
| Ensembl Gene |
ENSMUSG00000071350 |
| Gene Name |
SET domain, bifurcated 2 |
| Synonyms |
KMT1F, LOC239122 |
| MMRRC Submission |
044569-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.572)
|
| Stock # |
R6431 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59656505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 287
(N287D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093450
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000111253]
[ENSMUST00000161459]
|
| AlphaFold |
Q8C267 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095775
AA Change: N287D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093450
Gene: ENSMUSG00000071350
AA Change: N287D
| 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 benign
Transcript: ENSMUST00000161459
AA Change: N271D
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000124696
Gene: ENSMUSG00000071350
AA Change: N271D
| 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
|
| Meta Mutation Damage Score |
0.2332 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 93.9%
|
| Validation Efficiency |
100% (68/68) |
| 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 |
|---|
| Adcy5 |
A |
G |
16: 35,099,607 (GRCm39) |
E719G |
probably damaging |
Het |
| Ankdd1a |
A |
G |
9: 65,424,220 (GRCm39) |
M31T |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,070,154 (GRCm39) |
K911E |
possibly damaging |
Het |
| Bpifb3 |
G |
T |
2: 153,766,728 (GRCm39) |
L210F |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,334 (GRCm39) |
Y211C |
probably damaging |
Het |
| Carm1 |
C |
A |
9: 21,494,373 (GRCm39) |
P297T |
probably damaging |
Het |
| Cdh19 |
A |
T |
1: 110,852,787 (GRCm39) |
Y383N |
probably benign |
Het |
| Cfap221 |
T |
C |
1: 119,860,583 (GRCm39) |
H681R |
probably damaging |
Het |
| Cmya5 |
A |
C |
13: 93,210,972 (GRCm39) |
S3274A |
possibly damaging |
Het |
| Cndp2 |
T |
A |
18: 84,693,203 (GRCm39) |
K186* |
probably null |
Het |
| Ctdp1 |
G |
T |
18: 80,494,470 (GRCm39) |
F310L |
probably damaging |
Het |
| Cyp2c55 |
A |
T |
19: 39,019,853 (GRCm39) |
I264F |
probably damaging |
Het |
| Dhx40 |
A |
T |
11: 86,664,649 (GRCm39) |
F628I |
probably damaging |
Het |
| Disc1 |
T |
A |
8: 125,862,128 (GRCm39) |
M500K |
possibly damaging |
Het |
| Dnah5 |
A |
C |
15: 28,349,970 (GRCm39) |
D2551A |
possibly damaging |
Het |
| Esyt1 |
A |
G |
10: 128,352,543 (GRCm39) |
|
probably null |
Het |
| Fam78a |
T |
C |
2: 31,972,843 (GRCm39) |
S26G |
probably damaging |
Het |
| Fn1 |
G |
A |
1: 71,687,003 (GRCm39) |
|
probably null |
Het |
| Gbx1 |
T |
C |
5: 24,709,916 (GRCm39) |
T310A |
probably benign |
Het |
| Ggh |
T |
A |
4: 20,042,219 (GRCm39) |
C16S |
unknown |
Het |
| Gm11595 |
T |
A |
11: 99,663,600 (GRCm39) |
T27S |
unknown |
Het |
| Gm17334 |
T |
A |
11: 53,663,564 (GRCm39) |
|
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,014,311 (GRCm39) |
I256M |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,620,711 (GRCm39) |
S1166R |
probably benign |
Het |
| Hyou1 |
T |
C |
9: 44,293,322 (GRCm39) |
|
probably null |
Het |
| Jup |
G |
T |
11: 100,265,167 (GRCm39) |
R637S |
probably benign |
Het |
| Lama2 |
T |
A |
10: 26,929,027 (GRCm39) |
I2087F |
possibly damaging |
Het |
| Lamc1 |
T |
G |
1: 153,097,417 (GRCm39) |
K1542N |
probably benign |
Het |
| Lgals4 |
G |
T |
7: 28,540,117 (GRCm39) |
|
|
Het |
| Lrrc8d |
A |
G |
5: 105,959,626 (GRCm39) |
D12G |
probably damaging |
Het |
| Lrwd1 |
C |
T |
5: 136,161,888 (GRCm39) |
V207M |
possibly damaging |
Het |
| Mbd1 |
T |
A |
18: 74,406,762 (GRCm39) |
|
probably null |
Het |
| Msi1 |
T |
A |
5: 115,588,984 (GRCm39) |
I333N |
probably damaging |
Het |
| Neo1 |
C |
T |
9: 58,814,354 (GRCm39) |
V871I |
probably benign |
Het |
| Nr2c1 |
T |
C |
10: 94,024,078 (GRCm39) |
C428R |
probably damaging |
Het |
| Ntm |
A |
G |
9: 29,322,978 (GRCm39) |
L14P |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,304,145 (GRCm39) |
K77N |
probably damaging |
Het |
| Or1p1c |
A |
C |
11: 74,160,235 (GRCm39) |
T7P |
possibly damaging |
Het |
| Or4c119 |
T |
A |
2: 88,987,505 (GRCm39) |
S5C |
probably damaging |
Het |
| Or4f17-ps1 |
T |
A |
2: 111,358,001 (GRCm39) |
M132K |
probably damaging |
Het |
| Or8g30 |
T |
C |
9: 39,230,074 (GRCm39) |
T279A |
possibly damaging |
Het |
| Or8k18 |
G |
A |
2: 86,085,702 (GRCm39) |
L112F |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,074,701 (GRCm39) |
D418E |
probably damaging |
Het |
| Pde4d |
G |
A |
13: 109,738,320 (GRCm39) |
|
probably null |
Het |
| Pip |
A |
G |
6: 41,828,391 (GRCm39) |
N75S |
possibly damaging |
Het |
| Plcl1 |
G |
C |
1: 55,736,411 (GRCm39) |
R584P |
probably benign |
Het |
| Pnp |
A |
T |
14: 51,188,471 (GRCm39) |
D237V |
probably damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,098,281 (GRCm39) |
W857R |
probably damaging |
Het |
| Pramel13 |
T |
C |
4: 144,119,653 (GRCm39) |
T305A |
possibly damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,727,229 (GRCm39) |
M368L |
probably benign |
Het |
| Pum1 |
T |
A |
4: 130,501,816 (GRCm39) |
S868R |
probably damaging |
Het |
| R3hdml |
A |
T |
2: 163,344,324 (GRCm39) |
S238C |
probably damaging |
Het |
| Robo2 |
G |
A |
16: 73,843,697 (GRCm39) |
R173* |
probably null |
Het |
| Sall3 |
A |
G |
18: 81,016,402 (GRCm39) |
S509P |
possibly damaging |
Het |
| Sap130 |
T |
G |
18: 31,799,418 (GRCm39) |
H298Q |
possibly damaging |
Het |
| Selenov |
C |
A |
7: 27,987,458 (GRCm39) |
G307C |
probably damaging |
Het |
| Setd2 |
T |
A |
9: 110,379,453 (GRCm39) |
H1089Q |
possibly damaging |
Het |
| Sis |
C |
T |
3: 72,865,507 (GRCm39) |
V182I |
probably benign |
Het |
| Slc32a1 |
A |
C |
2: 158,453,457 (GRCm39) |
D99A |
probably benign |
Het |
| Slk |
A |
G |
19: 47,609,327 (GRCm39) |
D760G |
probably damaging |
Het |
| Smg5 |
T |
A |
3: 88,258,527 (GRCm39) |
D499E |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,723,111 (GRCm39) |
N690Y |
probably benign |
Het |
| Stat3 |
T |
C |
11: 100,780,400 (GRCm39) |
T720A |
possibly damaging |
Het |
| Trdn |
T |
G |
10: 33,015,110 (GRCm39) |
N21K |
probably damaging |
Het |
| Trpm4 |
A |
T |
7: 44,975,992 (GRCm39) |
V118E |
possibly damaging |
Het |
| Vgll3 |
A |
G |
16: 65,612,640 (GRCm39) |
Q41R |
probably damaging |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,525 (GRCm39) |
V104A |
probably damaging |
Het |
| Vmn1r46 |
A |
T |
6: 89,953,389 (GRCm39) |
R79S |
probably benign |
Het |
| Zscan4c |
T |
C |
7: 10,740,856 (GRCm39) |
M125T |
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 |
|
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 |
|
|
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'- TTGCAAATAGCCACTTTGGGG -3'
(R):5'- ACTTATGTCCAGTTGACTCGG -3'
Sequencing Primer
(F):5'- CCACTTTGGGGAGTTATGAAAC -3'
(R):5'- ATGTCCAGTTGACTCGGAATCAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation