Incidental Mutation 'IGL02806:Setd7'
| ID |
360408 |
| 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 # |
IGL02806
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
51422740-51468300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 51457688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 46
(N46K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037141]
|
| AlphaFold |
Q8VHL1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037141
AA Change: N46K
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: N46K
| 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: ENSMUST00000194828
|
| 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 |
|---|
| Acot4 |
A |
G |
12: 84,088,737 (GRCm39) |
D195G |
probably damaging |
Het |
| Acsm1 |
G |
A |
7: 119,235,861 (GRCm39) |
D194N |
probably benign |
Het |
| Akr1b1 |
T |
C |
6: 34,281,254 (GRCm39) |
Y310C |
probably damaging |
Het |
| Aldh6a1 |
T |
C |
12: 84,486,414 (GRCm39) |
D168G |
probably damaging |
Het |
| Ankrd29 |
A |
C |
18: 12,408,795 (GRCm39) |
S166A |
probably benign |
Het |
| Ap1m2 |
T |
G |
9: 21,216,979 (GRCm39) |
D119A |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,681,297 (GRCm39) |
K776R |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,000,643 (GRCm39) |
D1274G |
possibly damaging |
Het |
| Cacna2d3 |
A |
C |
14: 29,073,907 (GRCm39) |
|
probably null |
Het |
| Ccdc51 |
T |
C |
9: 108,921,316 (GRCm39) |
M401T |
probably benign |
Het |
| Cchcr1 |
A |
G |
17: 35,836,153 (GRCm39) |
|
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,409,156 (GRCm39) |
D397E |
probably benign |
Het |
| Duox2 |
T |
C |
2: 122,115,147 (GRCm39) |
H1110R |
probably damaging |
Het |
| Ephb3 |
C |
A |
16: 21,041,031 (GRCm39) |
D696E |
probably benign |
Het |
| Ermap |
T |
C |
4: 119,046,113 (GRCm39) |
K6E |
possibly damaging |
Het |
| Gm3095 |
A |
G |
14: 15,170,388 (GRCm39) |
D79G |
possibly damaging |
Het |
| Hnrnpab |
A |
G |
11: 51,496,305 (GRCm39) |
S126P |
probably benign |
Het |
| Hyou1 |
C |
A |
9: 44,300,180 (GRCm39) |
S823* |
probably null |
Het |
| Klhl31 |
T |
A |
9: 77,563,056 (GRCm39) |
V607E |
probably damaging |
Het |
| Klrc3 |
A |
T |
6: 129,616,065 (GRCm39) |
C209S |
possibly damaging |
Het |
| Lhx4 |
G |
A |
1: 155,577,975 (GRCm39) |
P389L |
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,791,952 (GRCm39) |
T264A |
probably benign |
Het |
| Mkx |
T |
C |
18: 6,937,025 (GRCm39) |
D302G |
probably damaging |
Het |
| Ms4a4d |
T |
C |
19: 11,533,610 (GRCm39) |
S164P |
possibly damaging |
Het |
| Myo1e |
A |
G |
9: 70,269,552 (GRCm39) |
E651G |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,151 (GRCm39) |
|
probably null |
Het |
| Ncoa3 |
A |
G |
2: 165,894,352 (GRCm39) |
I298V |
probably benign |
Het |
| Nek1 |
G |
A |
8: 61,497,120 (GRCm39) |
M389I |
probably benign |
Het |
| Nid1 |
T |
A |
13: 13,642,897 (GRCm39) |
D278E |
probably benign |
Het |
| Nkx2-9 |
C |
T |
12: 56,658,705 (GRCm39) |
V170M |
probably damaging |
Het |
| Or51ag1 |
T |
A |
7: 103,155,210 (GRCm39) |
K314N |
probably benign |
Het |
| Oxsr1 |
T |
C |
9: 119,070,260 (GRCm39) |
D511G |
possibly damaging |
Het |
| Pramel14 |
T |
A |
4: 143,719,501 (GRCm39) |
|
probably null |
Het |
| Rbm44 |
T |
C |
1: 91,080,799 (GRCm39) |
L329S |
possibly damaging |
Het |
| Snx10 |
T |
A |
6: 51,565,329 (GRCm39) |
F149I |
probably damaging |
Het |
| Sult2a3 |
T |
A |
7: 13,856,857 (GRCm39) |
E21V |
probably damaging |
Het |
| Tas2r135 |
T |
C |
6: 42,383,382 (GRCm39) |
F307S |
probably benign |
Het |
| Tmem131l |
T |
C |
3: 83,836,123 (GRCm39) |
|
probably benign |
Het |
| Tnfsf18 |
T |
G |
1: 161,331,348 (GRCm39) |
M166R |
possibly damaging |
Het |
| Toe1 |
C |
T |
4: 116,663,527 (GRCm39) |
V88M |
possibly damaging |
Het |
| Ttk |
T |
A |
9: 83,744,540 (GRCm39) |
C577* |
probably null |
Het |
| Ush2a |
T |
A |
1: 188,542,554 (GRCm39) |
Y3373* |
probably null |
Het |
| Vwa8 |
A |
G |
14: 79,394,528 (GRCm39) |
D1543G |
probably benign |
Het |
| Zfhx4 |
A |
T |
3: 5,455,468 (GRCm39) |
H1154L |
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 |
|
IGL02117:Setd7
|
APN |
3 |
51,428,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2015-12-18 |
Incidental Mutation