Incidental Mutation 'R0021:Setd6'
| ID |
19018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd6
|
| Ensembl Gene |
ENSMUSG00000031671 |
| Gene Name |
SET domain containing 6 |
| Synonyms |
0610039J04Rik |
| MMRRC Submission |
038316-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0021 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
96442509-96445638 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96443293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 19
(K19E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148466
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034096]
[ENSMUST00000041318]
[ENSMUST00000068452]
[ENSMUST00000073139]
[ENSMUST00000080666]
[ENSMUST00000098473]
[ENSMUST00000141900]
[ENSMUST00000148727]
[ENSMUST00000162578]
[ENSMUST00000211887]
[ENSMUST00000213006]
[ENSMUST00000166358]
|
| AlphaFold |
Q9CWY3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034096
AA Change: K179E
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000034096
Gene: ENSMUSG00000031671
AA Change: K179E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
34 |
N/A |
INTRINSIC |
|
SET
|
62 |
293 |
1.84e0 |
SMART |
|
Pfam:Rubis-subs-bind
|
330 |
465 |
1.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041318
|
| SMART Domains |
Protein: ENSMUSP00000036226
Gene: ENSMUSG00000036564
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:Ndr
|
60 |
342 |
3.1e-126 |
PFAM |
|
low complexity region
|
360 |
375 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068452
|
| SMART Domains |
Protein: ENSMUSP00000063565
Gene: ENSMUSG00000036550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
181 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
687 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
796 |
N/A |
INTRINSIC |
|
PDB:4J8S|A
|
798 |
999 |
1e-137 |
PDB |
|
low complexity region
|
1011 |
1028 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1055 |
N/A |
INTRINSIC |
|
PDB:4CT4|C
|
1056 |
1295 |
1e-148 |
PDB |
|
low complexity region
|
1296 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1328 |
1345 |
N/A |
INTRINSIC |
|
Pfam:DUF3819
|
1381 |
1530 |
2.5e-56 |
PFAM |
|
low complexity region
|
1634 |
1648 |
N/A |
INTRINSIC |
|
Pfam:Not1
|
1991 |
2305 |
2.4e-125 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073139
|
| SMART Domains |
Protein: ENSMUSP00000072883
Gene: ENSMUSG00000036564
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
8 |
290 |
2e-126 |
PFAM |
|
Pfam:Abhydrolase_6
|
43 |
278 |
1.2e-16 |
PFAM |
|
low complexity region
|
308 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080666
|
| SMART Domains |
Protein: ENSMUSP00000079495
Gene: ENSMUSG00000036564
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ndr
|
8 |
290 |
9.9e-127 |
PFAM |
|
Pfam:Abhydrolase_6
|
43 |
278 |
1.1e-16 |
PFAM |
|
low complexity region
|
295 |
310 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098473
|
| SMART Domains |
Protein: ENSMUSP00000096073
Gene: ENSMUSG00000036550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
181 |
189 |
N/A |
INTRINSIC |
|
Pfam:CNOT1_HEAT
|
500 |
656 |
2.4e-57 |
PFAM |
|
low complexity region
|
687 |
698 |
N/A |
INTRINSIC |
|
low complexity region
|
779 |
796 |
N/A |
INTRINSIC |
|
Pfam:CNOT1_TTP_bind
|
812 |
1004 |
1.4e-87 |
PFAM |
|
low complexity region
|
1016 |
1033 |
N/A |
INTRINSIC |
|
low complexity region
|
1036 |
1060 |
N/A |
INTRINSIC |
|
Pfam:CNOT1_CAF1_bind
|
1087 |
1313 |
5.7e-99 |
PFAM |
|
low complexity region
|
1333 |
1350 |
N/A |
INTRINSIC |
|
Pfam:DUF3819
|
1387 |
1534 |
2.3e-57 |
PFAM |
|
low complexity region
|
1639 |
1653 |
N/A |
INTRINSIC |
|
Pfam:Not1
|
1998 |
2357 |
5.7e-157 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126888
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000141900
AA Change: K19E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148727
AA Change: K16E
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154052
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161314
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154593
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166358
|
| SMART Domains |
Protein: ENSMUSP00000131203
Gene: ENSMUSG00000036564
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1980 |
| Coding Region Coverage |
- 1x: 84.2%
- 3x: 78.9%
- 10x: 65.7%
- 20x: 50.3%
|
| Validation Efficiency |
96% (92/96) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a methyltransferase that adds a methyl group to the histone H2AZ, which is involved in nuclear receptor-dependent transcription. The protein also interacts with several endogenous proteins which are involved in nuclear hormone receptor signaling. A related pseudogene is located on chromosome 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310016G11Rik |
A |
G |
7: 44,326,620 (GRCm39) |
|
noncoding transcript |
Het |
| Abcc5 |
T |
A |
16: 20,197,411 (GRCm39) |
K647* |
probably null |
Het |
| Aplp1 |
A |
G |
7: 30,135,241 (GRCm39) |
|
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,462,643 (GRCm39) |
E1105G |
probably damaging |
Het |
| Brinp3 |
T |
G |
1: 146,777,189 (GRCm39) |
S545R |
probably benign |
Het |
| Btnl1 |
A |
G |
17: 34,598,468 (GRCm39) |
E28G |
probably benign |
Het |
| Ccr6 |
G |
A |
17: 8,475,598 (GRCm39) |
V268M |
possibly damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,160,902 (GRCm39) |
Q1081* |
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,314,830 (GRCm39) |
T626A |
probably damaging |
Het |
| Dhx36 |
T |
C |
3: 62,385,016 (GRCm39) |
I699V |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,860,805 (GRCm39) |
I2855T |
probably benign |
Het |
| Duxf4 |
C |
A |
10: 58,071,385 (GRCm39) |
E276D |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,830,201 (GRCm39) |
|
probably benign |
Het |
| Galnt11 |
A |
T |
5: 25,453,855 (GRCm39) |
D27V |
probably damaging |
Het |
| Gm5134 |
T |
A |
10: 75,829,718 (GRCm39) |
C335S |
probably damaging |
Het |
| Hdhd2 |
A |
T |
18: 77,058,311 (GRCm39) |
K227N |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,870,453 (GRCm39) |
D94V |
possibly damaging |
Het |
| Krtcap3 |
A |
G |
5: 31,410,303 (GRCm39) |
H227R |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,369,370 (GRCm39) |
H232R |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,603,110 (GRCm39) |
I174T |
probably damaging |
Het |
| Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
| Mcm9 |
G |
A |
10: 53,413,997 (GRCm39) |
T1099I |
possibly damaging |
Het |
| Nkapd1 |
A |
C |
9: 50,521,725 (GRCm39) |
D65E |
probably damaging |
Het |
| Nqo2 |
T |
C |
13: 34,165,490 (GRCm39) |
I129T |
probably benign |
Het |
| Pdgfrb |
T |
A |
18: 61,197,998 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
C |
T |
14: 30,960,443 (GRCm39) |
|
probably benign |
Het |
| Plac8 |
T |
A |
5: 100,704,434 (GRCm39) |
T88S |
probably benign |
Het |
| Prss52 |
T |
G |
14: 64,341,857 (GRCm39) |
V16G |
probably benign |
Het |
| Psmb9 |
G |
A |
17: 34,403,277 (GRCm39) |
A80V |
probably benign |
Het |
| Ptprk |
T |
A |
10: 28,468,891 (GRCm39) |
V1425E |
probably damaging |
Het |
| Scart2 |
G |
A |
7: 139,876,310 (GRCm39) |
R594H |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,500,859 (GRCm39) |
V7A |
possibly damaging |
Het |
| Serpini1 |
T |
C |
3: 75,526,620 (GRCm39) |
Y291H |
probably damaging |
Het |
| Siah2 |
T |
C |
3: 58,583,713 (GRCm39) |
H191R |
probably benign |
Het |
| Slc27a2 |
T |
C |
2: 126,409,806 (GRCm39) |
|
probably benign |
Het |
| Tbc1d10a |
T |
C |
11: 4,163,680 (GRCm39) |
C277R |
probably damaging |
Het |
| Trim55 |
A |
C |
3: 19,698,866 (GRCm39) |
M32L |
probably benign |
Het |
| Unc5b |
T |
C |
10: 60,614,698 (GRCm39) |
T200A |
probably benign |
Het |
| Wrap53 |
A |
T |
11: 69,454,712 (GRCm39) |
M219K |
probably damaging |
Het |
| Zfp790 |
G |
A |
7: 29,525,113 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Setd6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02257:Setd6
|
APN |
8 |
96,443,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02984:Setd6
|
UTSW |
8 |
96,442,903 (GRCm39) |
splice site |
probably null |
|
|
R0140:Setd6
|
UTSW |
8 |
96,442,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Setd6
|
UTSW |
8 |
96,444,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Setd6
|
UTSW |
8 |
96,443,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4672:Setd6
|
UTSW |
8 |
96,444,640 (GRCm39) |
missense |
probably null |
0.11 |
|
R4817:Setd6
|
UTSW |
8 |
96,443,683 (GRCm39) |
unclassified |
probably benign |
|
|
R5960:Setd6
|
UTSW |
8 |
96,442,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Setd6
|
UTSW |
8 |
96,442,866 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7778:Setd6
|
UTSW |
8 |
96,442,866 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7824:Setd6
|
UTSW |
8 |
96,442,866 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8049:Setd6
|
UTSW |
8 |
96,443,316 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-03-25 |
Incidental Mutation