Incidental Mutation 'R0370:Setd4'
ID |
30447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd4
|
Ensembl Gene |
ENSMUSG00000022948 |
Gene Name |
SET domain containing 4 |
Synonyms |
ORF21 |
MMRRC Submission |
038576-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0370 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
93380345-93400951 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93388006 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 160
(E160G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023669
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023669]
[ENSMUST00000113951]
|
AlphaFold |
P58467 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023669
AA Change: E160G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000023669 Gene: ENSMUSG00000022948 AA Change: E160G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:SET
|
58 |
272 |
3.2e-11 |
PFAM |
Pfam:Rubis-subs-bind
|
306 |
424 |
5.5e-26 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113951
AA Change: E160G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109584 Gene: ENSMUSG00000022948 AA Change: E160G
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
22 |
N/A |
INTRINSIC |
Pfam:SET
|
58 |
272 |
9.1e-14 |
PFAM |
Pfam:Rubis-subs-bind
|
308 |
424 |
1e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123756
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140619
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141789
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152520
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156298
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l1 |
T |
C |
8: 124,228,293 (GRCm39) |
S666P |
probably damaging |
Het |
B3gntl1 |
A |
T |
11: 121,514,980 (GRCm39) |
W263R |
probably damaging |
Het |
Carmil3 |
A |
G |
14: 55,732,899 (GRCm39) |
N270S |
possibly damaging |
Het |
Ctdp1 |
T |
C |
18: 80,492,569 (GRCm39) |
E642G |
probably damaging |
Het |
Cyp2b9 |
A |
T |
7: 25,909,531 (GRCm39) |
K433M |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,721,056 (GRCm39) |
V435A |
possibly damaging |
Het |
Defa26 |
A |
T |
8: 22,108,875 (GRCm39) |
M87L |
probably benign |
Het |
Dnah11 |
T |
A |
12: 117,958,962 (GRCm39) |
I2974L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,685,943 (GRCm39) |
D131G |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,725,861 (GRCm39) |
S1447R |
probably benign |
Het |
Dtl |
G |
T |
1: 191,307,462 (GRCm39) |
N17K |
probably benign |
Het |
Grid2 |
A |
G |
6: 64,322,718 (GRCm39) |
I573V |
possibly damaging |
Het |
Hoxa9 |
T |
C |
6: 52,202,684 (GRCm39) |
E134G |
possibly damaging |
Het |
Kcnn3 |
A |
T |
3: 89,574,399 (GRCm39) |
N637I |
probably damaging |
Het |
Ktn1 |
T |
C |
14: 47,901,532 (GRCm39) |
F97L |
probably benign |
Het |
Lmbrd2 |
T |
C |
15: 9,165,939 (GRCm39) |
I271T |
probably damaging |
Het |
Lrp6 |
A |
C |
6: 134,456,729 (GRCm39) |
I845S |
probably damaging |
Het |
Med13l |
T |
A |
5: 118,879,891 (GRCm39) |
N994K |
probably benign |
Het |
Mrrf |
A |
T |
2: 36,067,125 (GRCm39) |
|
probably null |
Het |
Mtmr1 |
G |
A |
X: 70,431,837 (GRCm39) |
V125I |
probably damaging |
Het |
Nol8 |
C |
T |
13: 49,815,923 (GRCm39) |
A677V |
possibly damaging |
Het |
Or13g1 |
T |
A |
7: 85,956,057 (GRCm39) |
N88I |
probably benign |
Het |
Or51k1 |
T |
G |
7: 103,661,266 (GRCm39) |
L214F |
probably damaging |
Het |
Or8k3 |
A |
T |
2: 86,059,057 (GRCm39) |
V86D |
probably damaging |
Het |
Paxip1 |
C |
A |
5: 27,965,084 (GRCm39) |
V659F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,571,104 (GRCm39) |
V163A |
probably damaging |
Het |
Pkn3 |
T |
A |
2: 29,977,184 (GRCm39) |
H641Q |
probably damaging |
Het |
Plekhg6 |
G |
A |
6: 125,347,623 (GRCm39) |
R444C |
probably damaging |
Het |
Rfx2 |
T |
C |
17: 57,106,308 (GRCm39) |
E175G |
probably benign |
Het |
Samd9l |
A |
C |
6: 3,377,264 (GRCm39) |
|
probably benign |
Het |
Sec14l5 |
A |
T |
16: 4,998,570 (GRCm39) |
T537S |
probably damaging |
Het |
Serpinb9d |
A |
G |
13: 33,379,949 (GRCm39) |
E96G |
probably damaging |
Het |
Sf3b2 |
C |
T |
19: 5,324,852 (GRCm39) |
D845N |
probably damaging |
Het |
Slc16a4 |
A |
G |
3: 107,208,413 (GRCm39) |
I308V |
possibly damaging |
Het |
Slco2b1 |
T |
A |
7: 99,339,644 (GRCm39) |
N100Y |
probably damaging |
Het |
Sptbn1 |
A |
T |
11: 30,071,545 (GRCm39) |
S1475R |
probably benign |
Het |
Tecta |
T |
C |
9: 42,278,100 (GRCm39) |
D1136G |
probably benign |
Het |
Tmem94 |
G |
C |
11: 115,679,543 (GRCm39) |
R273S |
probably damaging |
Het |
Tns3 |
A |
G |
11: 8,395,730 (GRCm39) |
S1225P |
possibly damaging |
Het |
Ugt2b36 |
A |
G |
5: 87,239,834 (GRCm39) |
Y184H |
probably benign |
Het |
Vmn2r59 |
A |
T |
7: 41,662,150 (GRCm39) |
M555K |
probably benign |
Het |
|
Other mutations in Setd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01359:Setd4
|
APN |
16 |
93,388,127 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02217:Setd4
|
APN |
16 |
93,390,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R0573:Setd4
|
UTSW |
16 |
93,386,834 (GRCm39) |
missense |
probably benign |
|
R1103:Setd4
|
UTSW |
16 |
93,382,082 (GRCm39) |
missense |
probably benign |
0.01 |
R1631:Setd4
|
UTSW |
16 |
93,390,136 (GRCm39) |
nonsense |
probably null |
|
R1826:Setd4
|
UTSW |
16 |
93,388,187 (GRCm39) |
nonsense |
probably null |
|
R2356:Setd4
|
UTSW |
16 |
93,387,871 (GRCm39) |
missense |
probably damaging |
1.00 |
R2360:Setd4
|
UTSW |
16 |
93,383,122 (GRCm39) |
splice site |
probably benign |
|
R4362:Setd4
|
UTSW |
16 |
93,380,574 (GRCm39) |
splice site |
probably null |
|
R4630:Setd4
|
UTSW |
16 |
93,388,114 (GRCm39) |
missense |
probably benign |
0.00 |
R4823:Setd4
|
UTSW |
16 |
93,386,838 (GRCm39) |
missense |
probably benign |
0.00 |
R5004:Setd4
|
UTSW |
16 |
93,388,133 (GRCm39) |
missense |
probably benign |
0.02 |
R5257:Setd4
|
UTSW |
16 |
93,393,221 (GRCm39) |
missense |
probably damaging |
0.98 |
R6667:Setd4
|
UTSW |
16 |
93,386,918 (GRCm39) |
missense |
probably benign |
0.16 |
R6798:Setd4
|
UTSW |
16 |
93,386,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R7296:Setd4
|
UTSW |
16 |
93,380,830 (GRCm39) |
splice site |
probably null |
|
R7313:Setd4
|
UTSW |
16 |
93,388,132 (GRCm39) |
missense |
probably benign |
0.09 |
R7314:Setd4
|
UTSW |
16 |
93,384,711 (GRCm39) |
missense |
probably benign |
0.13 |
R8786:Setd4
|
UTSW |
16 |
93,390,162 (GRCm39) |
missense |
probably benign |
0.01 |
R8866:Setd4
|
UTSW |
16 |
93,386,961 (GRCm39) |
missense |
probably damaging |
0.97 |
R9153:Setd4
|
UTSW |
16 |
93,384,722 (GRCm39) |
missense |
possibly damaging |
0.96 |
R9363:Setd4
|
UTSW |
16 |
93,388,009 (GRCm39) |
missense |
probably benign |
0.08 |
R9627:Setd4
|
UTSW |
16 |
93,380,562 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGTGATTCAGCAGGTCCAGGAAC -3'
(R):5'- AGGCAGACGACATTGTGAGAGTCC -3'
Sequencing Primer
(F):5'- TGCGGAAAGGCACTCCTG -3'
(R):5'- GACATTGTGAGAGTCCACACTTTAAC -3'
|
Posted On |
2013-04-24 |