Incidental Mutation 'IGL02257:Setd6'
ID |
286638 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02257
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
96442509-96445638 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96443320 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 188
(Y188H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034096
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034096]
[ENSMUST00000041318]
[ENSMUST00000068452]
[ENSMUST00000073139]
[ENSMUST00000080666]
[ENSMUST00000098473]
[ENSMUST00000148727]
[ENSMUST00000141900]
[ENSMUST00000211887]
[ENSMUST00000162578]
[ENSMUST00000213006]
[ENSMUST00000166358]
|
AlphaFold |
Q9CWY3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034096
AA Change: Y188H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034096 Gene: ENSMUSG00000031671 AA Change: Y188H
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 |
probably damaging
Transcript: ENSMUST00000148727
AA Change: Y25H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000141900
AA Change: Y28H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161314
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211887
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162578
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212302
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154052
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213006
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126888
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154593
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aanat |
C |
T |
11: 116,486,535 (GRCm39) |
Q25* |
probably null |
Het |
Adam8 |
A |
T |
7: 139,567,561 (GRCm39) |
V394D |
possibly damaging |
Het |
Ahnak2 |
A |
G |
12: 112,748,905 (GRCm39) |
F314S |
possibly damaging |
Het |
Arsg |
T |
C |
11: 109,412,473 (GRCm39) |
|
probably benign |
Het |
Atp13a2 |
T |
G |
4: 140,733,400 (GRCm39) |
V958G |
probably benign |
Het |
Ces5a |
T |
C |
8: 94,252,226 (GRCm39) |
D218G |
probably benign |
Het |
Cntnap4 |
T |
A |
8: 113,343,126 (GRCm39) |
L63Q |
probably damaging |
Het |
Cped1 |
A |
G |
6: 22,145,606 (GRCm39) |
T655A |
possibly damaging |
Het |
Ddc |
A |
T |
11: 11,823,171 (GRCm39) |
L133* |
probably null |
Het |
Fat4 |
C |
T |
3: 39,055,288 (GRCm39) |
A4169V |
probably benign |
Het |
Gnpat |
T |
C |
8: 125,613,587 (GRCm39) |
|
probably benign |
Het |
Gpd2 |
A |
G |
2: 57,254,536 (GRCm39) |
D678G |
probably benign |
Het |
Hk1 |
T |
C |
10: 62,107,422 (GRCm39) |
D851G |
probably benign |
Het |
Hsd11b2 |
G |
A |
8: 106,249,854 (GRCm39) |
V322I |
probably benign |
Het |
Hsd17b3 |
G |
A |
13: 64,207,276 (GRCm39) |
T255M |
probably benign |
Het |
Hsp90b1 |
T |
C |
10: 86,534,453 (GRCm39) |
S284G |
probably damaging |
Het |
Med1 |
T |
A |
11: 98,071,096 (GRCm39) |
I69L |
probably damaging |
Het |
Mmut |
C |
T |
17: 41,249,625 (GRCm39) |
T200I |
possibly damaging |
Het |
Morn3 |
T |
G |
5: 123,175,788 (GRCm39) |
D200A |
probably damaging |
Het |
Mtss1 |
A |
G |
15: 58,828,394 (GRCm39) |
V173A |
probably damaging |
Het |
Myl6b |
T |
C |
10: 128,333,210 (GRCm39) |
|
probably benign |
Het |
Nin |
A |
G |
12: 70,149,465 (GRCm39) |
V48A |
possibly damaging |
Het |
Odr4 |
A |
T |
1: 150,262,155 (GRCm39) |
I95N |
probably damaging |
Het |
Or10w1 |
G |
A |
19: 13,632,629 (GRCm39) |
V279I |
probably benign |
Het |
Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
Phlpp2 |
T |
A |
8: 110,646,731 (GRCm39) |
V529E |
possibly damaging |
Het |
Pnlip |
G |
A |
19: 58,662,306 (GRCm39) |
V151I |
probably benign |
Het |
Pus7 |
A |
C |
5: 23,967,459 (GRCm39) |
H247Q |
probably damaging |
Het |
Siglecg |
T |
C |
7: 43,061,328 (GRCm39) |
S444P |
probably benign |
Het |
Sox9 |
C |
A |
11: 112,675,811 (GRCm39) |
H333Q |
possibly damaging |
Het |
Specc1 |
T |
A |
11: 62,009,243 (GRCm39) |
I333N |
probably damaging |
Het |
Tmprss11e |
G |
A |
5: 86,872,039 (GRCm39) |
T59I |
probably damaging |
Het |
Vmn2r93 |
A |
C |
17: 18,545,770 (GRCm39) |
|
probably benign |
Het |
Vrk2 |
A |
T |
11: 26,484,266 (GRCm39) |
V163D |
probably damaging |
Het |
|
Other mutations in Setd6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02984:Setd6
|
UTSW |
8 |
96,442,903 (GRCm39) |
splice site |
probably null |
|
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 |
|
|
Posted On |
2015-04-16 |