Incidental Mutation 'IGL02984:Setd6'
| ID |
453273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd6
|
| Ensembl Gene |
ENSMUSG00000031671 |
| Gene Name |
SET domain containing 6 |
| Synonyms |
0610039J04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02984 (G1)
|
| Quality Score |
68 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
96442509-96445638 bp(+) (GRCm39) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 96442903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034096
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034096]
[ENSMUST00000041318]
[ENSMUST00000068452]
[ENSMUST00000073139]
[ENSMUST00000080666]
[ENSMUST00000098473]
[ENSMUST00000141900]
[ENSMUST00000148727]
[ENSMUST00000162578]
[ENSMUST00000213006]
[ENSMUST00000211887]
[ENSMUST00000166358]
|
| AlphaFold |
Q9CWY3 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000034096
|
| SMART Domains |
Protein: ENSMUSP00000034096
Gene: ENSMUSG00000031671
| 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 |
noncoding transcript
Transcript: ENSMUST00000154052
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212302
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148727
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161314
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213006
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211887
|
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
A |
5: 88,120,662 (GRCm39) |
I473N |
probably damaging |
Het |
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| A530064D06Rik |
T |
C |
17: 48,470,448 (GRCm39) |
I178V |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,363,199 (GRCm39) |
P55S |
probably damaging |
Het |
| Bglap3 |
T |
C |
3: 88,276,098 (GRCm39) |
T85A |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Csrnp3 |
A |
G |
2: 65,852,553 (GRCm39) |
D315G |
probably benign |
Het |
| Dclk3 |
T |
C |
9: 111,317,643 (GRCm39) |
Y760H |
probably damaging |
Het |
| Eef1akmt2 |
A |
G |
7: 132,438,935 (GRCm39) |
*52R |
probably null |
Het |
| Epc2 |
A |
G |
2: 49,418,866 (GRCm39) |
K225E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxi2 |
C |
T |
7: 135,012,127 (GRCm39) |
T5M |
possibly damaging |
Het |
| Frmd4b |
T |
A |
6: 97,273,221 (GRCm39) |
T670S |
probably damaging |
Het |
| Gm14137 |
G |
T |
2: 119,005,961 (GRCm39) |
E173D |
probably damaging |
Het |
| Kif12 |
GGGGC |
GGGGCCTCCACCCGGCGGGC |
4: 63,089,660 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
G |
A |
10: 39,823,184 (GRCm39) |
|
probably benign |
Het |
| Mlst8 |
A |
G |
17: 24,695,127 (GRCm39) |
F252S |
probably damaging |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mogs |
A |
G |
6: 83,094,296 (GRCm39) |
K371R |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,727 (GRCm39) |
|
probably benign |
Het |
| Otog |
T |
A |
7: 45,954,932 (GRCm39) |
C2702S |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,107,020 (GRCm39) |
E905G |
probably damaging |
Het |
| Rtn4rl1 |
T |
C |
11: 75,156,087 (GRCm39) |
V173A |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,016,665 (GRCm39) |
E421G |
probably benign |
Het |
| Sh3tc1 |
T |
C |
5: 35,871,403 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
T |
A |
1: 125,490,250 (GRCm39) |
Y71N |
probably benign |
Het |
| Snx1 |
A |
G |
9: 65,996,390 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
C |
6: 48,472,089 (GRCm39) |
V792A |
probably benign |
Het |
| Sufu |
C |
A |
19: 46,462,038 (GRCm39) |
D350E |
probably benign |
Het |
| Trav18 |
C |
A |
14: 54,069,026 (GRCm39) |
Q23K |
probably damaging |
Het |
| Ugt1a1 |
AT |
A |
1: 88,140,093 (GRCm39) |
|
probably null |
Het |
| Usp17le |
T |
A |
7: 104,418,311 (GRCm39) |
H277L |
probably benign |
Het |
| Wdsub1 |
A |
G |
2: 59,707,173 (GRCm39) |
S20P |
probably damaging |
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 |
|
R0021:Setd6
|
UTSW |
8 |
96,443,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGCTGAGTCCTAAGGTG -3'
(R):5'- ACCCTTTAGGAGTCGCAACC -3'
Sequencing Primer
(F):5'- TCCTAAGGTGACGGTGAGC -3'
(R):5'- ATGGGATGCTCCAAACGC -3'
|
| Posted On |
2017-02-01 |
Incidental Mutation