Incidental Mutation 'R6428:Setd3'
| ID |
518397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Setd3
|
| Ensembl Gene |
ENSMUSG00000056770 |
| Gene Name |
SET domain containing 3 |
| Synonyms |
D12Ertd771e, 2610102I01Rik, 2610305M23Rik |
| MMRRC Submission |
044421-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6428 (G1)
|
| Quality Score |
199.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
108072690-108145573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108079597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 302
(D302G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071095]
[ENSMUST00000109879]
[ENSMUST00000132682]
[ENSMUST00000147466]
|
| AlphaFold |
Q91WC0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000071095
AA Change: D302G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066413
Gene: ENSMUSG00000056770
AA Change: D302G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SET
|
105 |
314 |
2.1e-12 |
PFAM |
|
Pfam:Rubis-subs-bind
|
345 |
475 |
3.7e-31 |
PFAM |
|
low complexity region
|
565 |
577 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109879
|
| SMART Domains |
Protein: ENSMUSP00000105505
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SET
|
105 |
287 |
6.5e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132682
|
| SMART Domains |
Protein: ENSMUSP00000123159
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SMT|A
|
2 |
58 |
3e-30 |
PDB |
|
SCOP:d1epua_
|
50 |
79 |
6e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147466
|
| SMART Domains |
Protein: ENSMUSP00000121406
Gene: ENSMUSG00000056770
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3SMT|A
|
2 |
58 |
3e-30 |
PDB |
|
SCOP:d1epua_
|
50 |
79 |
6e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148119
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169951
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
| Cts6 |
T |
G |
13: 61,344,237 (GRCm39) |
N272H |
probably damaging |
Het |
| Daam2 |
C |
T |
17: 49,776,404 (GRCm39) |
E828K |
probably damaging |
Het |
| Dhx9 |
C |
T |
1: 153,332,324 (GRCm39) |
|
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,770,748 (GRCm39) |
N106S |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,359,167 (GRCm39) |
D175G |
possibly damaging |
Het |
| Hectd4 |
A |
G |
5: 121,488,508 (GRCm39) |
K3600E |
possibly damaging |
Het |
| Hspa13 |
A |
T |
16: 75,554,874 (GRCm39) |
L404Q |
probably damaging |
Het |
| Iws1 |
A |
G |
18: 32,219,343 (GRCm39) |
D475G |
probably damaging |
Het |
| Klhdc10 |
T |
C |
6: 30,439,855 (GRCm39) |
S13P |
probably damaging |
Het |
| Lepr |
C |
T |
4: 101,637,295 (GRCm39) |
T728I |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 26,963,960 (GRCm39) |
|
probably null |
Het |
| Pasd1 |
CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC |
CATCTTTACCATCATGTCAAGTATCTTTACC |
X: 70,983,126 (GRCm39) |
|
probably benign |
Homo |
| Phb2 |
A |
G |
6: 124,692,954 (GRCm39) |
D276G |
probably benign |
Het |
| Prrc2b |
A |
G |
2: 32,116,508 (GRCm39) |
|
probably null |
Het |
| Rasgrf2 |
T |
C |
13: 92,136,100 (GRCm39) |
K604R |
probably damaging |
Het |
| Rp1l1 |
T |
A |
14: 64,269,838 (GRCm39) |
M1808K |
possibly damaging |
Het |
| Slc38a10 |
T |
A |
11: 119,996,298 (GRCm39) |
Q933L |
probably benign |
Het |
| Slco1a1 |
A |
G |
6: 141,871,416 (GRCm39) |
L250S |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r26 |
A |
G |
6: 124,003,039 (GRCm39) |
I150V |
probably benign |
Het |
| Zfp318 |
C |
T |
17: 46,710,262 (GRCm39) |
R662C |
probably damaging |
Het |
|
| Other mutations in Setd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00971:Setd3
|
APN |
12 |
108,126,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01365:Setd3
|
APN |
12 |
108,124,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02031:Setd3
|
APN |
12 |
108,129,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02826:Setd3
|
APN |
12 |
108,078,383 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02878:Setd3
|
APN |
12 |
108,074,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03039:Setd3
|
APN |
12 |
108,129,229 (GRCm39) |
splice site |
probably null |
|
|
R0332:Setd3
|
UTSW |
12 |
108,073,838 (GRCm39) |
missense |
probably benign |
|
|
R1644:Setd3
|
UTSW |
12 |
108,079,603 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1776:Setd3
|
UTSW |
12 |
108,131,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2018:Setd3
|
UTSW |
12 |
108,084,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2025:Setd3
|
UTSW |
12 |
108,126,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2041:Setd3
|
UTSW |
12 |
108,079,651 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R2058:Setd3
|
UTSW |
12 |
108,073,600 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2206:Setd3
|
UTSW |
12 |
108,073,544 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2207:Setd3
|
UTSW |
12 |
108,073,544 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3973:Setd3
|
UTSW |
12 |
108,131,417 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3976:Setd3
|
UTSW |
12 |
108,131,417 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3978:Setd3
|
UTSW |
12 |
108,124,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4684:Setd3
|
UTSW |
12 |
108,074,949 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4965:Setd3
|
UTSW |
12 |
108,079,630 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5691:Setd3
|
UTSW |
12 |
108,126,544 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5990:Setd3
|
UTSW |
12 |
108,126,594 (GRCm39) |
missense |
probably benign |
|
|
R6198:Setd3
|
UTSW |
12 |
108,131,427 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R6241:Setd3
|
UTSW |
12 |
108,124,114 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7652:Setd3
|
UTSW |
12 |
108,078,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7913:Setd3
|
UTSW |
12 |
108,073,924 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8221:Setd3
|
UTSW |
12 |
108,073,612 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9585:Setd3
|
UTSW |
12 |
108,074,814 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0052:Setd3
|
UTSW |
12 |
108,073,924 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTTCAGTTGTGCAAACAGC -3'
(R):5'- GACCCAGAAATGATGCACATTATC -3'
Sequencing Primer
(F):5'- CAGTTGTGCAAACAGCTACATTG -3'
(R):5'- CAGATTTGCAGTTTCCTGTACAG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation