Incidental Mutation 'R7444:Setdb2'
ID |
577190 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setdb2
|
Ensembl Gene |
ENSMUSG00000071350 |
Gene Name |
SET domain, bifurcated 2 |
Synonyms |
KMT1F, LOC239122 |
MMRRC Submission |
045520-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.544)
|
Stock # |
R7444 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
59639458-59678329 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 59660794 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Stop codon
at position 116
(C116*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106884
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095775]
[ENSMUST00000111253]
[ENSMUST00000161459]
|
AlphaFold |
Q8C267 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095775
|
SMART Domains |
Protein: ENSMUSP00000093450 Gene: ENSMUSG00000071350
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 null
Transcript: ENSMUST00000111253
AA Change: C116*
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161459
|
SMART Domains |
Protein: ENSMUSP00000124696 Gene: ENSMUSG00000071350
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,984,787 (GRCm39) |
M2024V |
probably benign |
Het |
Ahnak2 |
T |
A |
12: 112,745,831 (GRCm39) |
Q1673L |
|
Het |
Atic |
G |
T |
1: 71,602,946 (GRCm39) |
V107L |
probably benign |
Het |
B2m |
A |
G |
2: 121,981,416 (GRCm39) |
N44D |
probably damaging |
Het |
Bud13 |
A |
G |
9: 46,209,799 (GRCm39) |
D636G |
probably damaging |
Het |
Cenpk |
T |
C |
13: 104,386,025 (GRCm39) |
*307Q |
probably null |
Het |
Cep68 |
A |
G |
11: 20,189,438 (GRCm39) |
S525P |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,733,193 (GRCm39) |
L105P |
probably damaging |
Het |
Cntnap5a |
A |
T |
1: 116,220,079 (GRCm39) |
M630L |
probably benign |
Het |
Cpb2 |
A |
G |
14: 75,520,782 (GRCm39) |
Y399C |
probably damaging |
Het |
Dars2 |
G |
T |
1: 160,874,454 (GRCm39) |
P412T |
possibly damaging |
Het |
E2f8 |
A |
T |
7: 48,517,927 (GRCm39) |
I665N |
probably damaging |
Het |
Epha4 |
A |
T |
1: 77,364,553 (GRCm39) |
I652N |
probably damaging |
Het |
Ermn |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
2: 57,938,079 (GRCm39) |
|
probably benign |
Het |
Flrt3 |
T |
C |
2: 140,502,387 (GRCm39) |
T414A |
probably benign |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Fosb |
T |
C |
7: 19,041,199 (GRCm39) |
D98G |
possibly damaging |
Het |
Gm5773 |
T |
C |
3: 93,680,850 (GRCm39) |
L174S |
probably damaging |
Het |
Hectd3 |
T |
A |
4: 116,854,124 (GRCm39) |
V258E |
possibly damaging |
Het |
Inf2 |
T |
A |
12: 112,571,821 (GRCm39) |
W617R |
unknown |
Het |
Irf7 |
T |
A |
7: 140,843,599 (GRCm39) |
I358F |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,535,663 (GRCm39) |
|
probably null |
Het |
Lrig2 |
A |
T |
3: 104,404,829 (GRCm39) |
L93* |
probably null |
Het |
Lzts1 |
C |
T |
8: 69,588,331 (GRCm39) |
V542M |
probably damaging |
Het |
Mefv |
T |
A |
16: 3,533,386 (GRCm39) |
H295L |
probably benign |
Het |
Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
Nat8f6 |
G |
C |
6: 85,786,112 (GRCm39) |
S12R |
probably benign |
Het |
Nipal4 |
G |
T |
11: 46,057,062 (GRCm39) |
N14K |
probably benign |
Het |
Nlrp4c |
T |
A |
7: 6,095,595 (GRCm39) |
C824* |
probably null |
Het |
Npat |
T |
C |
9: 53,460,210 (GRCm39) |
S53P |
probably damaging |
Het |
Nrxn3 |
A |
G |
12: 89,477,464 (GRCm39) |
E549G |
probably damaging |
Het |
Or10a5 |
T |
C |
7: 106,635,554 (GRCm39) |
L64P |
probably damaging |
Het |
Or12e8 |
T |
A |
2: 87,188,444 (GRCm39) |
L219I |
possibly damaging |
Het |
Or1r1 |
T |
C |
11: 73,874,576 (GRCm39) |
N286S |
probably damaging |
Het |
Or4a80 |
T |
C |
2: 89,583,103 (GRCm39) |
K23R |
probably benign |
Het |
Or4f62 |
A |
T |
2: 111,987,060 (GRCm39) |
I255F |
probably damaging |
Het |
Or5p55 |
T |
A |
7: 107,566,811 (GRCm39) |
V69E |
probably damaging |
Het |
Or6c6b |
T |
C |
10: 129,147,559 (GRCm39) |
M61T |
probably benign |
Het |
Or6z6 |
C |
A |
7: 6,490,919 (GRCm39) |
W311L |
probably benign |
Het |
Pcdhb11 |
T |
A |
18: 37,555,672 (GRCm39) |
I334K |
probably damaging |
Het |
Pcdhb4 |
T |
C |
18: 37,442,505 (GRCm39) |
L605P |
probably damaging |
Het |
Pced1a |
G |
T |
2: 130,263,979 (GRCm39) |
H224Q |
probably damaging |
Het |
Pde6b |
C |
A |
5: 108,575,008 (GRCm39) |
S623* |
probably null |
Het |
Pgr |
T |
C |
9: 8,946,883 (GRCm39) |
L708P |
probably damaging |
Het |
Pnpla1 |
T |
C |
17: 29,097,455 (GRCm39) |
I207T |
possibly damaging |
Het |
Prkag3 |
A |
T |
1: 74,786,425 (GRCm39) |
D173E |
probably benign |
Het |
Prrt4 |
A |
G |
6: 29,176,516 (GRCm39) |
F270L |
probably benign |
Het |
Ptdss2 |
C |
A |
7: 140,732,997 (GRCm39) |
P260Q |
possibly damaging |
Het |
Rftn1 |
T |
A |
17: 50,354,435 (GRCm39) |
N309I |
probably damaging |
Het |
Rgs12 |
T |
C |
5: 35,183,287 (GRCm39) |
V978A |
possibly damaging |
Het |
Rnf111 |
T |
C |
9: 70,348,125 (GRCm39) |
Y816C |
probably damaging |
Het |
Rnf208 |
C |
T |
2: 25,133,326 (GRCm39) |
P7S |
probably damaging |
Het |
Rnf24 |
T |
C |
2: 131,155,215 (GRCm39) |
D4G |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,570,349 (GRCm39) |
I4925L |
probably benign |
Het |
S1pr5 |
A |
T |
9: 21,156,378 (GRCm39) |
V16D |
possibly damaging |
Het |
Scgb1b24 |
A |
G |
7: 33,443,566 (GRCm39) |
D75G |
possibly damaging |
Het |
Sh3rf2 |
G |
A |
18: 42,234,604 (GRCm39) |
R129Q |
probably damaging |
Het |
Spata31d1d |
C |
T |
13: 59,875,007 (GRCm39) |
V843I |
probably benign |
Het |
Steap3 |
A |
C |
1: 120,169,248 (GRCm39) |
F350V |
probably benign |
Het |
Tecrl |
T |
A |
5: 83,502,915 (GRCm39) |
|
probably benign |
Het |
Tex15 |
T |
A |
8: 34,066,590 (GRCm39) |
S2007T |
possibly damaging |
Het |
Tomm7 |
C |
A |
5: 24,049,155 (GRCm39) |
|
probably benign |
Het |
Trpv1 |
A |
C |
11: 73,135,030 (GRCm39) |
N409T |
possibly damaging |
Het |
Try5 |
T |
A |
6: 41,288,299 (GRCm39) |
Y218F |
probably benign |
Het |
Tspan5 |
A |
T |
3: 138,603,883 (GRCm39) |
I196F |
possibly damaging |
Het |
Wdhd1 |
A |
T |
14: 47,489,405 (GRCm39) |
C709* |
probably null |
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 |
|
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 |
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'- ACAAAGCTTCGCCTCATATTTGC -3'
(R):5'- TGGGCAGAATTTCTAGTCAGTG -3'
Sequencing Primer
(F):5'- GCTATTTTACAGGATGATGTAGACAC -3'
(R):5'- AACTTTGTATTTCTGTTGCTCCTG -3'
|
Posted On |
2019-10-07 |