Incidental Mutation 'IGL02117:Setd7'
ID |
280421 |
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 # |
IGL02117
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
51422740-51468300 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 51428826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 335
(Y335N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000043492
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037141]
|
AlphaFold |
Q8VHL1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037141
AA Change: Y335N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000043492 Gene: ENSMUSG00000037111 AA Change: Y335N
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
T |
A |
2: 151,315,466 (GRCm39) |
M71L |
probably benign |
Het |
Abcb11 |
A |
G |
2: 69,154,169 (GRCm39) |
|
probably benign |
Het |
Ago4 |
T |
C |
4: 126,410,645 (GRCm39) |
T249A |
probably benign |
Het |
Ahr |
A |
T |
12: 35,562,922 (GRCm39) |
C92* |
probably null |
Het |
Arhgap17 |
G |
A |
7: 122,885,996 (GRCm39) |
|
probably benign |
Het |
Arid1a |
G |
T |
4: 133,420,126 (GRCm39) |
T992K |
unknown |
Het |
Camk2a |
A |
G |
18: 61,111,061 (GRCm39) |
I83M |
probably damaging |
Het |
Ccdc154 |
T |
C |
17: 25,386,792 (GRCm39) |
|
probably null |
Het |
Chtf18 |
T |
C |
17: 25,941,177 (GRCm39) |
H607R |
possibly damaging |
Het |
Col25a1 |
T |
C |
3: 130,313,422 (GRCm39) |
|
probably benign |
Het |
Col9a1 |
C |
T |
1: 24,276,574 (GRCm39) |
Q530* |
probably null |
Het |
Cryl1 |
G |
T |
14: 57,523,904 (GRCm39) |
D219E |
probably damaging |
Het |
Cul3 |
A |
T |
1: 80,300,781 (GRCm39) |
|
probably benign |
Het |
Cul9 |
C |
A |
17: 46,851,301 (GRCm39) |
R373L |
probably benign |
Het |
Exo1 |
A |
G |
1: 175,721,309 (GRCm39) |
Y316C |
possibly damaging |
Het |
Fam114a1 |
G |
A |
5: 65,187,465 (GRCm39) |
V408M |
probably benign |
Het |
Hmcn2 |
A |
T |
2: 31,347,185 (GRCm39) |
S4792C |
possibly damaging |
Het |
Hps5 |
A |
G |
7: 46,432,940 (GRCm39) |
F260S |
probably damaging |
Het |
Hrh4 |
T |
C |
18: 13,155,477 (GRCm39) |
S339P |
probably benign |
Het |
Ist1 |
A |
T |
8: 110,405,584 (GRCm39) |
L152Q |
probably damaging |
Het |
Marco |
A |
G |
1: 120,418,683 (GRCm39) |
V190A |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,709,364 (GRCm39) |
V1711A |
probably benign |
Het |
Mmp9 |
A |
G |
2: 164,791,644 (GRCm39) |
Y179C |
probably damaging |
Het |
Mrgprb5 |
A |
G |
7: 47,818,742 (GRCm39) |
|
probably benign |
Het |
Mrgprx1 |
G |
T |
7: 47,671,371 (GRCm39) |
C125* |
probably null |
Het |
Msh6 |
A |
G |
17: 88,298,234 (GRCm39) |
|
probably benign |
Het |
Myot |
C |
A |
18: 44,488,177 (GRCm39) |
R441S |
probably benign |
Het |
Or11g7 |
A |
G |
14: 50,691,399 (GRCm39) |
R297G |
possibly damaging |
Het |
Paf1 |
A |
G |
7: 28,098,115 (GRCm39) |
|
probably benign |
Het |
Pde11a |
A |
G |
2: 75,821,606 (GRCm39) |
L891P |
probably damaging |
Het |
Prkar2a |
T |
A |
9: 108,596,460 (GRCm39) |
I135N |
probably damaging |
Het |
Rap1gap |
C |
T |
4: 137,454,355 (GRCm39) |
T646M |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,088,087 (GRCm39) |
D229G |
possibly damaging |
Het |
Rhobtb3 |
C |
T |
13: 76,025,547 (GRCm39) |
S523N |
probably damaging |
Het |
Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
Socs4 |
T |
C |
14: 47,528,264 (GRCm39) |
Y400H |
probably damaging |
Het |
Spag16 |
A |
T |
1: 69,909,479 (GRCm39) |
H192L |
probably damaging |
Het |
Ssh1 |
A |
T |
5: 114,084,541 (GRCm39) |
C566* |
probably null |
Het |
Stap1 |
T |
G |
5: 86,234,552 (GRCm39) |
I98S |
possibly damaging |
Het |
Tgs1 |
C |
T |
4: 3,585,836 (GRCm39) |
H238Y |
probably damaging |
Het |
Tifab |
T |
C |
13: 56,324,275 (GRCm39) |
Y56C |
probably benign |
Het |
Tssk2 |
A |
G |
16: 17,717,653 (GRCm39) |
E352G |
probably benign |
Het |
Vmn2r57 |
A |
T |
7: 41,049,874 (GRCm39) |
V625D |
probably benign |
Het |
Wbp1l |
T |
C |
19: 46,632,876 (GRCm39) |
Y75H |
probably benign |
Het |
Wnt5a |
T |
C |
14: 28,228,077 (GRCm39) |
|
probably benign |
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 |
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 |