Incidental Mutation 'IGL00465:Setd7'
| ID |
332145 |
| 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 # |
IGL00465
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
51422740-51468300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51457729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 33
(T33S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037141]
|
| AlphaFold |
Q8VHL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037141
AA Change: T33S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: T33S
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,793,102 (GRCm39) |
S2T |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,863,567 (GRCm39) |
W7R |
probably benign |
Het |
| Anks6 |
T |
A |
4: 47,046,054 (GRCm39) |
D279V |
probably damaging |
Het |
| C4bp |
A |
T |
1: 130,566,871 (GRCm39) |
L335Q |
probably damaging |
Het |
| Cd109 |
A |
T |
9: 78,568,216 (GRCm39) |
K299* |
probably null |
Het |
| Cd200r2 |
A |
T |
16: 44,729,651 (GRCm39) |
H102L |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,604,863 (GRCm39) |
Y662H |
probably damaging |
Het |
| Cyp2c37 |
T |
C |
19: 39,990,441 (GRCm39) |
F380L |
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,472,666 (GRCm39) |
S549P |
probably damaging |
Het |
| Dysf |
G |
T |
6: 84,176,830 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
A |
T |
11: 17,897,825 (GRCm39) |
C166* |
probably null |
Het |
| Fam227b |
T |
C |
2: 125,986,245 (GRCm39) |
|
probably null |
Het |
| Gucy1b2 |
T |
G |
14: 62,640,649 (GRCm39) |
Q752P |
probably benign |
Het |
| Hal |
T |
C |
10: 93,325,931 (GRCm39) |
|
probably null |
Het |
| Hao1 |
C |
A |
2: 134,396,190 (GRCm39) |
K21N |
probably damaging |
Het |
| Itga4 |
T |
C |
2: 79,122,394 (GRCm39) |
F536L |
probably benign |
Het |
| Lmod3 |
A |
T |
6: 97,224,822 (GRCm39) |
I333N |
probably damaging |
Het |
| Mgme1 |
T |
A |
2: 144,121,436 (GRCm39) |
D297E |
probably damaging |
Het |
| Myh2 |
G |
T |
11: 67,069,659 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
A |
G |
7: 97,751,833 (GRCm39) |
M70T |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,688,607 (GRCm39) |
T557A |
probably damaging |
Het |
| Nif3l1 |
C |
A |
1: 58,494,845 (GRCm39) |
H271Q |
possibly damaging |
Het |
| Nostrin |
A |
G |
2: 69,015,898 (GRCm39) |
|
probably benign |
Het |
| Nxn |
C |
A |
11: 76,165,481 (GRCm39) |
|
probably benign |
Het |
| Pcdhb22 |
A |
T |
18: 37,653,185 (GRCm39) |
D551V |
probably damaging |
Het |
| Pde4d |
A |
G |
13: 110,073,221 (GRCm39) |
D339G |
possibly damaging |
Het |
| Pkp4 |
T |
A |
2: 59,169,099 (GRCm39) |
S408T |
probably damaging |
Het |
| Pxmp2 |
T |
C |
5: 110,431,582 (GRCm39) |
T54A |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,011,019 (GRCm39) |
V2362E |
probably damaging |
Het |
| Rps6kl1 |
A |
G |
12: 85,186,203 (GRCm39) |
S276P |
probably benign |
Het |
| Scaf4 |
C |
A |
16: 90,044,169 (GRCm39) |
M601I |
unknown |
Het |
| Scart2 |
A |
G |
7: 139,874,755 (GRCm39) |
Y411C |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,354,921 (GRCm39) |
D280E |
probably benign |
Het |
| Slc35f2 |
G |
T |
9: 53,705,298 (GRCm39) |
|
probably null |
Het |
| Slitrk3 |
T |
A |
3: 72,958,436 (GRCm39) |
N112I |
probably damaging |
Het |
| Spag1 |
A |
G |
15: 36,183,967 (GRCm39) |
|
probably benign |
Het |
| Stx6 |
C |
T |
1: 155,077,679 (GRCm39) |
|
probably benign |
Het |
| Sun1 |
A |
T |
5: 139,220,440 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
G |
A |
3: 22,246,432 (GRCm39) |
|
probably null |
Het |
| Tmc2 |
T |
C |
2: 130,103,224 (GRCm39) |
S787P |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,877,128 (GRCm39) |
|
probably benign |
Het |
| Trip12 |
T |
G |
1: 84,741,582 (GRCm39) |
H559P |
probably damaging |
Het |
| Trpm1 |
G |
T |
7: 63,897,215 (GRCm39) |
M272I |
possibly damaging |
Het |
| Ttc21b |
T |
C |
2: 66,073,119 (GRCm39) |
E189G |
probably benign |
Het |
| Tubd1 |
T |
C |
11: 86,445,894 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
T |
A |
19: 16,729,539 (GRCm39) |
T167S |
probably damaging |
Het |
| Zbtb3 |
A |
G |
19: 8,781,029 (GRCm39) |
D214G |
possibly damaging |
Het |
| Zfp658 |
A |
G |
7: 43,216,780 (GRCm39) |
D50G |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,263,109 (GRCm39) |
I243L |
unknown |
Het |
|
| Other mutations in Setd7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-08-05 |
Incidental Mutation