Incidental Mutation 'R5472:Setd7'
| ID |
433854 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd7
|
| Ensembl Gene |
ENSMUSG00000037111 |
| Gene Name |
SET domain containing (lysine methyltransferase) 7 |
| Synonyms |
Set7/9, Set7, 1600028F23Rik, KMT7 |
| MMRRC Submission |
043033-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5472 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
51422740-51468300 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 51428886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 315
(P315S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043492
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037141]
|
| AlphaFold |
Q8VHL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037141
AA Change: P315S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043492
Gene: ENSMUSG00000037111
AA Change: P315S
| 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 |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.3%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajm1 |
T |
C |
2: 25,469,714 (GRCm39) |
T66A |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,750,869 (GRCm39) |
N506S |
probably benign |
Het |
| Brinp3 |
A |
T |
1: 146,777,197 (GRCm39) |
H548L |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,615,407 (GRCm39) |
V1328A |
possibly damaging |
Het |
| Carmil1 |
C |
T |
13: 24,339,454 (GRCm39) |
V47I |
probably damaging |
Het |
| Cdk2ap2 |
C |
A |
19: 4,148,048 (GRCm39) |
T76K |
probably benign |
Het |
| Col16a1 |
T |
C |
4: 129,986,564 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,455,703 (GRCm39) |
D583G |
probably benign |
Het |
| Cxcr4 |
C |
A |
1: 128,517,362 (GRCm39) |
A100S |
probably damaging |
Het |
| Fancl |
G |
T |
11: 26,419,677 (GRCm39) |
C305F |
probably damaging |
Het |
| Gcnt2 |
T |
C |
13: 41,107,055 (GRCm39) |
V308A |
probably benign |
Het |
| Gm11733 |
A |
T |
11: 117,375,322 (GRCm39) |
I24L |
unknown |
Het |
| Gm973 |
A |
G |
1: 59,667,446 (GRCm39) |
|
probably null |
Het |
| Heatr5b |
A |
T |
17: 79,109,089 (GRCm39) |
F1057I |
probably damaging |
Het |
| Ifi213 |
A |
T |
1: 173,394,838 (GRCm39) |
|
probably null |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,471 (GRCm39) |
V91E |
probably damaging |
Het |
| Inhba |
A |
G |
13: 16,201,371 (GRCm39) |
E311G |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,526,108 (GRCm39) |
|
probably null |
Het |
| Jag1 |
C |
A |
2: 136,926,915 (GRCm39) |
C948F |
probably damaging |
Het |
| Kcna2 |
T |
C |
3: 107,012,625 (GRCm39) |
I402T |
possibly damaging |
Het |
| Kcnh8 |
A |
T |
17: 53,284,844 (GRCm39) |
Q938L |
possibly damaging |
Het |
| Lrsam1 |
ACC |
AC |
2: 32,835,870 (GRCm39) |
|
probably null |
Het |
| Macf1 |
T |
C |
4: 123,343,854 (GRCm39) |
T2123A |
probably benign |
Het |
| Mdfic2 |
A |
T |
6: 98,215,237 (GRCm39) |
C129S |
probably damaging |
Het |
| Mdh1 |
A |
T |
11: 21,509,786 (GRCm39) |
N196K |
probably benign |
Het |
| Msh6 |
G |
A |
17: 88,291,989 (GRCm39) |
R248Q |
possibly damaging |
Het |
| Odf2l |
G |
T |
3: 144,852,627 (GRCm39) |
R457L |
probably benign |
Het |
| Or6c69c |
A |
T |
10: 129,910,898 (GRCm39) |
L206F |
probably damaging |
Het |
| Pphln1 |
T |
C |
15: 93,386,856 (GRCm39) |
V318A |
possibly damaging |
Het |
| Ppp1r12a |
C |
T |
10: 108,075,973 (GRCm39) |
T267I |
probably damaging |
Het |
| Pramel15 |
T |
C |
4: 144,103,727 (GRCm39) |
D133G |
probably benign |
Het |
| Prpf8 |
A |
C |
11: 75,394,469 (GRCm39) |
K1801N |
possibly damaging |
Het |
| Raf1 |
A |
G |
6: 115,603,667 (GRCm39) |
|
probably null |
Het |
| Rasal3 |
C |
A |
17: 32,615,643 (GRCm39) |
L374F |
probably damaging |
Het |
| S1pr3 |
T |
A |
13: 51,573,683 (GRCm39) |
V288D |
probably damaging |
Het |
| Slx4 |
C |
T |
16: 3,809,404 (GRCm39) |
A364T |
probably benign |
Het |
| Sp7 |
G |
A |
15: 102,267,749 (GRCm39) |
T19I |
probably benign |
Het |
| Tlr9 |
T |
A |
9: 106,101,512 (GRCm39) |
C268S |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,394 (GRCm39) |
D351E |
possibly damaging |
Het |
| Tmem45b |
T |
A |
9: 31,339,340 (GRCm39) |
D211V |
possibly damaging |
Het |
| Tns3 |
A |
G |
11: 8,401,092 (GRCm39) |
S1069P |
probably benign |
Het |
| Tsnax |
A |
G |
8: 125,742,501 (GRCm39) |
I77V |
probably benign |
Het |
| Txndc5 |
G |
A |
13: 38,697,101 (GRCm39) |
L79F |
possibly damaging |
Het |
| Ube2q1 |
A |
G |
3: 89,684,548 (GRCm39) |
E14G |
probably benign |
Het |
| Vmn2r28 |
C |
T |
7: 5,490,943 (GRCm39) |
|
probably null |
Het |
| Vwde |
A |
T |
6: 13,193,117 (GRCm39) |
D407E |
probably benign |
Het |
| Wdr35 |
T |
A |
12: 9,066,619 (GRCm39) |
M749K |
probably benign |
Het |
| Zfp109 |
A |
T |
7: 23,928,046 (GRCm39) |
C462* |
probably null |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2016-10-06 |
Incidental Mutation