Incidental Mutation 'IGL03258:Setd7'
ID |
414742 |
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 # |
IGL03258
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51422740-51468300 bp(-) (GRCm39) |
Type of Mutation |
splice site (3 bp from exon) |
DNA Base Change (assembly) |
T to C
at 51467936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037141]
|
AlphaFold |
Q8VHL1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000037141
|
SMART Domains |
Protein: ENSMUSP00000043492 Gene: ENSMUSG00000037111
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: ENSMUST00000180404
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180616
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181303
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192083
|
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: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,931,210 (GRCm39) |
|
probably benign |
Het |
Adam1b |
A |
G |
5: 121,639,447 (GRCm39) |
S533P |
possibly damaging |
Het |
Akr1c6 |
G |
T |
13: 4,486,408 (GRCm39) |
G72C |
probably damaging |
Het |
Carf |
C |
T |
1: 60,148,388 (GRCm39) |
T28I |
possibly damaging |
Het |
Cog1 |
G |
A |
11: 113,545,919 (GRCm39) |
W398* |
probably null |
Het |
Dmpk |
A |
G |
7: 18,826,131 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
T |
C |
18: 50,053,960 (GRCm39) |
V2534A |
probably damaging |
Het |
Fam78b |
A |
T |
1: 166,906,323 (GRCm39) |
T161S |
probably damaging |
Het |
Fgd6 |
A |
T |
10: 93,969,215 (GRCm39) |
T1161S |
probably benign |
Het |
Gpr158 |
A |
T |
2: 21,830,085 (GRCm39) |
D710V |
probably damaging |
Het |
H2-Q4 |
A |
G |
17: 35,599,095 (GRCm39) |
I122V |
probably benign |
Het |
Ifi211 |
A |
T |
1: 173,733,098 (GRCm39) |
C188S |
probably benign |
Het |
Lamc3 |
A |
C |
2: 31,777,695 (GRCm39) |
S114R |
probably damaging |
Het |
Lrrc57 |
C |
T |
2: 120,435,703 (GRCm39) |
A239T |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,058,887 (GRCm39) |
Y707H |
probably damaging |
Het |
Ms4a6b |
T |
G |
19: 11,499,072 (GRCm39) |
L62R |
probably damaging |
Het |
Mtmr4 |
A |
T |
11: 87,502,829 (GRCm39) |
H961L |
possibly damaging |
Het |
Myrip |
A |
G |
9: 120,270,418 (GRCm39) |
N556S |
probably benign |
Het |
Osgep |
T |
C |
14: 51,155,346 (GRCm39) |
T71A |
possibly damaging |
Het |
Plin4 |
T |
C |
17: 56,411,371 (GRCm39) |
T887A |
probably benign |
Het |
Pwwp2a |
T |
A |
11: 43,595,392 (GRCm39) |
F186I |
probably benign |
Het |
Serpina1b |
G |
T |
12: 103,696,655 (GRCm39) |
S251R |
probably benign |
Het |
Slc24a5 |
G |
T |
2: 124,922,625 (GRCm39) |
|
probably null |
Het |
Slc25a17 |
A |
G |
15: 81,213,243 (GRCm39) |
|
probably benign |
Het |
Slc5a4a |
T |
C |
10: 75,986,386 (GRCm39) |
V98A |
possibly damaging |
Het |
Susd1 |
A |
T |
4: 59,379,655 (GRCm39) |
I324N |
possibly damaging |
Het |
Tcaf3 |
A |
G |
6: 42,566,773 (GRCm39) |
L772P |
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 |
IGL00944: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 |
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 |
2016-08-02 |