Incidental Mutation 'R6428:Setd3'
ID |
518397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Setd3
|
Ensembl Gene |
ENSMUSG00000056770 |
Gene Name |
SET domain containing 3 |
Synonyms |
2610305M23Rik, 2610102I01Rik, D12Ertd771e |
MMRRC Submission |
|
Accession Numbers |
|
Is this an essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6428 (G1)
|
Quality Score |
199.009 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
108106431-108179314 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108113338 bp (GRCm38)
|
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: 8,602,436 |
|
probably benign |
Het |
Cts6 |
T |
G |
13: 61,196,423 |
N272H |
probably damaging |
Het |
Daam2 |
C |
T |
17: 49,469,376 |
E828K |
probably damaging |
Het |
Dhx9 |
C |
T |
1: 153,456,578 |
|
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,859,452 |
N106S |
probably damaging |
Het |
Gm1141 |
CATCTTTACCATCATGTCAAGTATCTTTACCATCATGTCAAGTATCTTTACC |
CATCTTTACCATCATGTCAAGTATCTTTACC |
X: 71,939,520 |
|
probably benign |
Homo |
Hdlbp |
T |
C |
1: 93,431,445 |
D175G |
possibly damaging |
Het |
Hectd4 |
A |
G |
5: 121,350,445 |
K3600E |
possibly damaging |
Het |
Hspa13 |
A |
T |
16: 75,757,986 |
L404Q |
probably damaging |
Het |
Iws1 |
A |
G |
18: 32,086,290 |
D475G |
probably damaging |
Het |
Klhdc10 |
T |
C |
6: 30,439,856 |
S13P |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,780,098 |
T728I |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 27,052,664 |
|
probably null |
Het |
Phb2 |
A |
G |
6: 124,715,991 |
D276G |
probably benign |
Het |
Prrc2b |
A |
G |
2: 32,226,496 |
|
probably null |
Het |
Rasgrf2 |
T |
C |
13: 91,987,981 |
K604R |
probably damaging |
Het |
Rp1l1 |
T |
A |
14: 64,032,389 |
M1808K |
possibly damaging |
Het |
Slc38a10 |
T |
A |
11: 120,105,472 |
Q933L |
probably benign |
Het |
Slco1a1 |
A |
G |
6: 141,925,690 |
L250S |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,268,463 |
C558Y |
probably damaging |
Het |
Vmn2r26 |
A |
G |
6: 124,026,080 |
I150V |
probably benign |
Het |
Zfp318 |
C |
T |
17: 46,399,336 |
R662C |
probably damaging |
Het |
|
Other mutations in Setd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00971:Setd3
|
APN |
12 |
108160237 |
missense |
probably damaging |
1.00 |
IGL01365:Setd3
|
APN |
12 |
108157906 |
missense |
probably damaging |
1.00 |
IGL02031:Setd3
|
APN |
12 |
108163030 |
missense |
probably damaging |
1.00 |
IGL02826:Setd3
|
APN |
12 |
108112124 |
unclassified |
probably benign |
|
IGL02878:Setd3
|
APN |
12 |
108108555 |
critical splice donor site |
probably null |
|
IGL03039:Setd3
|
APN |
12 |
108162970 |
splice site |
probably null |
|
R0332:Setd3
|
UTSW |
12 |
108107579 |
missense |
probably benign |
|
R1644:Setd3
|
UTSW |
12 |
108113344 |
missense |
possibly damaging |
0.88 |
R1776:Setd3
|
UTSW |
12 |
108165161 |
missense |
probably damaging |
1.00 |
R2018:Setd3
|
UTSW |
12 |
108118254 |
missense |
probably damaging |
1.00 |
R2025:Setd3
|
UTSW |
12 |
108160267 |
missense |
probably damaging |
1.00 |
R2041:Setd3
|
UTSW |
12 |
108113392 |
missense |
possibly damaging |
0.84 |
R2058:Setd3
|
UTSW |
12 |
108107341 |
missense |
probably benign |
0.03 |
R2206:Setd3
|
UTSW |
12 |
108107285 |
missense |
probably benign |
0.11 |
R2207:Setd3
|
UTSW |
12 |
108107285 |
missense |
probably benign |
0.11 |
R3973:Setd3
|
UTSW |
12 |
108165158 |
missense |
possibly damaging |
0.93 |
R3976:Setd3
|
UTSW |
12 |
108165158 |
missense |
possibly damaging |
0.93 |
R3978:Setd3
|
UTSW |
12 |
108157942 |
missense |
possibly damaging |
0.63 |
R4684:Setd3
|
UTSW |
12 |
108108690 |
missense |
probably benign |
0.05 |
R4965:Setd3
|
UTSW |
12 |
108113371 |
missense |
probably benign |
0.29 |
R5691:Setd3
|
UTSW |
12 |
108160285 |
missense |
probably benign |
0.19 |
R5990:Setd3
|
UTSW |
12 |
108160335 |
missense |
probably benign |
|
R6198:Setd3
|
UTSW |
12 |
108165168 |
missense |
possibly damaging |
0.66 |
R6241:Setd3
|
UTSW |
12 |
108157855 |
missense |
probably benign |
0.24 |
R7652:Setd3
|
UTSW |
12 |
108112289 |
missense |
probably damaging |
1.00 |
R7913:Setd3
|
UTSW |
12 |
108107665 |
missense |
probably benign |
0.37 |
R8221:Setd3
|
UTSW |
12 |
108107353 |
missense |
possibly damaging |
0.91 |
X0052:Setd3
|
UTSW |
12 |
108107665 |
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 |