Incidental Mutation 'IGL00944:Setd7'
ID |
278100 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Setd7
|
Ensembl Gene |
ENSMUSG00000037111 |
Gene Name |
SET domain containing (lysine methyltransferase) 7 |
Synonyms |
Set7/9, Set7, 1600028F23Rik, KMT7 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00944
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51422740-51468300 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 51440459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 194
(D194V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037141]
|
AlphaFold |
Q8VHL1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037141
AA Change: D194V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043492 Gene: ENSMUSG00000037111 AA Change: D194V
Domain | Start | End | E-Value | Type |
Pfam:MORN
|
13 |
35 |
9e-3 |
PFAM |
Pfam:MORN
|
36 |
58 |
1.7e-6 |
PFAM |
Pfam:MORN
|
60 |
81 |
1.6e-6 |
PFAM |
Pfam:MORN
|
106 |
128 |
2.2e-6 |
PFAM |
SET
|
214 |
342 |
2.35e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195080
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a knock-out allele exhibit partial prenatal lethality and failure of mouse embryonic fibroblasts and spleen cells to arrest after doxorubicin treatment. Homozygotes for a different knock-out allele show resistance to bleomycin- or adenovirus-TGFbeta-induced pulmonary fibrosis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp10b |
A |
G |
11: 43,092,988 (GRCm39) |
N441S |
probably damaging |
Het |
Bod1l |
A |
G |
5: 41,974,166 (GRCm39) |
C2383R |
probably benign |
Het |
Dapk3 |
G |
T |
10: 81,019,910 (GRCm39) |
|
probably null |
Het |
Dock6 |
T |
C |
9: 21,757,930 (GRCm39) |
D58G |
possibly damaging |
Het |
Etl4 |
G |
A |
2: 20,534,865 (GRCm39) |
V107I |
possibly damaging |
Het |
Fam163b |
A |
G |
2: 27,003,597 (GRCm39) |
L19P |
probably damaging |
Het |
Fbxl20 |
A |
C |
11: 98,004,068 (GRCm39) |
F73L |
probably damaging |
Het |
Foxj2 |
T |
C |
6: 122,816,594 (GRCm39) |
L492P |
probably damaging |
Het |
Hfm1 |
A |
T |
5: 107,049,996 (GRCm39) |
V391E |
possibly damaging |
Het |
Ift74 |
T |
C |
4: 94,581,259 (GRCm39) |
Y586H |
probably damaging |
Het |
Klhl12 |
A |
G |
1: 134,411,491 (GRCm39) |
N280S |
probably benign |
Het |
Lctl |
T |
A |
9: 64,040,411 (GRCm39) |
Y292* |
probably null |
Het |
Ltb |
C |
A |
17: 35,413,642 (GRCm39) |
Q49K |
possibly damaging |
Het |
Mapk1 |
T |
A |
16: 16,853,322 (GRCm39) |
D289E |
probably benign |
Het |
Mideas |
A |
G |
12: 84,207,322 (GRCm39) |
|
probably benign |
Het |
Mroh2b |
C |
T |
15: 4,980,609 (GRCm39) |
|
probably benign |
Het |
Myot |
T |
C |
18: 44,470,181 (GRCm39) |
S53P |
possibly damaging |
Het |
Opn5 |
G |
A |
17: 42,922,119 (GRCm39) |
L28F |
probably damaging |
Het |
Or5b97 |
A |
T |
19: 12,878,719 (GRCm39) |
Y142N |
probably benign |
Het |
Or8k39 |
A |
G |
2: 86,563,905 (GRCm39) |
I17T |
possibly damaging |
Het |
Pals2 |
T |
C |
6: 50,140,436 (GRCm39) |
V152A |
possibly damaging |
Het |
Pld1 |
T |
A |
3: 28,099,247 (GRCm39) |
|
probably null |
Het |
Rc3h2 |
A |
G |
2: 37,288,250 (GRCm39) |
|
probably benign |
Het |
Robo2 |
T |
A |
16: 73,730,585 (GRCm39) |
H1009L |
possibly damaging |
Het |
Sh3bp1 |
A |
T |
15: 78,789,314 (GRCm39) |
D288V |
possibly damaging |
Het |
Smpd4 |
T |
C |
16: 17,460,621 (GRCm39) |
I809T |
probably benign |
Het |
Spata6 |
C |
T |
4: 111,663,125 (GRCm39) |
|
probably benign |
Het |
Trnau1ap |
C |
A |
4: 132,055,817 (GRCm39) |
V30L |
possibly damaging |
Het |
Trpm4 |
T |
C |
7: 44,967,773 (GRCm39) |
H386R |
probably benign |
Het |
Ttc3 |
T |
G |
16: 94,227,620 (GRCm39) |
|
probably null |
Het |
Ufd1 |
T |
C |
16: 18,643,781 (GRCm39) |
V180A |
possibly damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,899,154 (GRCm39) |
I499V |
probably damaging |
Het |
Zfp112 |
C |
A |
7: 23,825,021 (GRCm39) |
Q330K |
probably benign |
Het |
Zfp668 |
G |
A |
7: 127,467,079 (GRCm39) |
R166W |
probably damaging |
Het |
|
Other mutations in Setd7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Setd7
|
APN |
3 |
51,457,729 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00940:Setd7
|
APN |
3 |
51,440,459 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00943:Setd7
|
APN |
3 |
51,440,459 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01466:Setd7
|
APN |
3 |
51,428,730 (GRCm39) |
makesense |
probably null |
|
IGL01810:Setd7
|
APN |
3 |
51,440,388 (GRCm39) |
splice site |
probably benign |
|
IGL01884:Setd7
|
APN |
3 |
51,450,132 (GRCm39) |
missense |
possibly damaging |
0.71 |
IGL02117:Setd7
|
APN |
3 |
51,428,826 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02806:Setd7
|
APN |
3 |
51,457,688 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03258:Setd7
|
APN |
3 |
51,467,936 (GRCm39) |
splice site |
probably null |
|
IGL03404:Setd7
|
APN |
3 |
51,440,407 (GRCm39) |
nonsense |
probably null |
|
R0366:Setd7
|
UTSW |
3 |
51,457,741 (GRCm39) |
missense |
probably benign |
0.07 |
R1328:Setd7
|
UTSW |
3 |
51,450,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1819:Setd7
|
UTSW |
3 |
51,450,060 (GRCm39) |
missense |
probably benign |
0.38 |
R1872:Setd7
|
UTSW |
3 |
51,450,252 (GRCm39) |
missense |
probably benign |
0.29 |
R2406:Setd7
|
UTSW |
3 |
51,450,097 (GRCm39) |
missense |
probably damaging |
0.99 |
R2513:Setd7
|
UTSW |
3 |
51,440,436 (GRCm39) |
missense |
probably damaging |
1.00 |
R4231:Setd7
|
UTSW |
3 |
51,450,151 (GRCm39) |
missense |
probably benign |
0.24 |
R4627:Setd7
|
UTSW |
3 |
51,450,086 (GRCm39) |
missense |
probably damaging |
0.99 |
R4687:Setd7
|
UTSW |
3 |
51,457,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Setd7
|
UTSW |
3 |
51,428,843 (GRCm39) |
missense |
probably damaging |
1.00 |
R5212:Setd7
|
UTSW |
3 |
51,450,238 (GRCm39) |
missense |
probably damaging |
1.00 |
R5472:Setd7
|
UTSW |
3 |
51,428,886 (GRCm39) |
missense |
probably benign |
0.00 |
R6127:Setd7
|
UTSW |
3 |
51,437,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R6647:Setd7
|
UTSW |
3 |
51,450,183 (GRCm39) |
missense |
probably benign |
0.00 |
R6966:Setd7
|
UTSW |
3 |
51,437,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7744:Setd7
|
UTSW |
3 |
51,434,261 (GRCm39) |
splice site |
probably null |
|
R7828:Setd7
|
UTSW |
3 |
51,444,078 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7896:Setd7
|
UTSW |
3 |
51,444,077 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8203:Setd7
|
UTSW |
3 |
51,437,519 (GRCm39) |
nonsense |
probably null |
|
R8283:Setd7
|
UTSW |
3 |
51,428,796 (GRCm39) |
missense |
probably benign |
0.11 |
R9489:Setd7
|
UTSW |
3 |
51,450,139 (GRCm39) |
nonsense |
probably null |
|
R9683:Setd7
|
UTSW |
3 |
51,450,111 (GRCm39) |
missense |
possibly damaging |
0.92 |
X0022:Setd7
|
UTSW |
3 |
51,450,073 (GRCm39) |
missense |
probably benign |
0.10 |
|
Posted On |
2015-04-16 |