Incidental Mutation 'IGL01290:Sun3'
| ID |
72886 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sun3
|
| Ensembl Gene |
ENSMUSG00000040985 |
| Gene Name |
Sad1 and UNC84 domain containing 3 |
| Synonyms |
Sunc1, D630047F21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.052)
|
| Stock # |
IGL01290
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
8966054-8998991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8973341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 119
(G119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043377]
[ENSMUST00000102909]
|
| AlphaFold |
Q5SS91 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043377
AA Change: G179S
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: G179S
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
182 |
316 |
3.4e-48 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102909
AA Change: G119S
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: G119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sad1_UNC
|
122 |
256 |
3.2e-48 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,621 (GRCm39) |
H148R |
possibly damaging |
Het |
| Abca13 |
T |
A |
11: 9,206,232 (GRCm39) |
H177Q |
probably damaging |
Het |
| Adamts18 |
T |
A |
8: 114,501,575 (GRCm39) |
E349D |
probably damaging |
Het |
| Cers5 |
G |
A |
15: 99,637,536 (GRCm39) |
R190* |
probably null |
Het |
| Cntnap2 |
C |
T |
6: 45,992,399 (GRCm39) |
T442I |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,286,903 (GRCm39) |
A908V |
unknown |
Het |
| Ctnna2 |
T |
C |
6: 76,859,543 (GRCm39) |
D951G |
possibly damaging |
Het |
| Dock3 |
T |
C |
9: 106,835,599 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,782,998 (GRCm39) |
T106A |
possibly damaging |
Het |
| Fscn3 |
T |
C |
6: 28,430,505 (GRCm39) |
V225A |
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,185 (GRCm39) |
N167S |
probably damaging |
Het |
| Gnal |
A |
G |
18: 67,344,169 (GRCm39) |
D181G |
probably damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,408 (GRCm39) |
Y174C |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,809,844 (GRCm39) |
D445N |
probably damaging |
Het |
| Hoxb8 |
A |
G |
11: 96,175,093 (GRCm39) |
I176V |
possibly damaging |
Het |
| Itgbl1 |
A |
T |
14: 124,204,137 (GRCm39) |
E285D |
probably benign |
Het |
| Megf8 |
C |
T |
7: 25,049,083 (GRCm39) |
R1727* |
probably null |
Het |
| Nrap |
T |
C |
19: 56,350,180 (GRCm39) |
D611G |
probably damaging |
Het |
| Nudt19 |
A |
G |
7: 35,247,501 (GRCm39) |
S303P |
probably damaging |
Het |
| Rhcg |
A |
G |
7: 79,248,342 (GRCm39) |
F421L |
probably benign |
Het |
| Ripk2 |
T |
C |
4: 16,139,198 (GRCm39) |
|
probably benign |
Het |
| Rnf139 |
A |
G |
15: 58,770,175 (GRCm39) |
I67V |
probably benign |
Het |
| Smarca5 |
A |
G |
8: 81,454,277 (GRCm39) |
S256P |
probably benign |
Het |
| Tlr12 |
A |
C |
4: 128,511,630 (GRCm39) |
S207A |
probably damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,016,701 (GRCm39) |
|
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,926,487 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Sun3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Sun3
|
APN |
11 |
8,979,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01578:Sun3
|
APN |
11 |
8,979,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03340:Sun3
|
APN |
11 |
8,973,285 (GRCm39) |
splice site |
probably benign |
|
|
R1944:Sun3
|
UTSW |
11 |
8,988,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1945:Sun3
|
UTSW |
11 |
8,988,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2233:Sun3
|
UTSW |
11 |
8,973,371 (GRCm39) |
nonsense |
probably null |
|
|
R4356:Sun3
|
UTSW |
11 |
8,966,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Sun3
|
UTSW |
11 |
8,988,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4785:Sun3
|
UTSW |
11 |
8,988,266 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4975:Sun3
|
UTSW |
11 |
8,988,311 (GRCm39) |
nonsense |
probably null |
|
|
R5022:Sun3
|
UTSW |
11 |
8,988,314 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5134:Sun3
|
UTSW |
11 |
8,988,287 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5163:Sun3
|
UTSW |
11 |
8,973,295 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5358:Sun3
|
UTSW |
11 |
8,981,496 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5668:Sun3
|
UTSW |
11 |
8,981,433 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6621:Sun3
|
UTSW |
11 |
8,966,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7442:Sun3
|
UTSW |
11 |
8,981,445 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8022:Sun3
|
UTSW |
11 |
8,973,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Sun3
|
UTSW |
11 |
8,979,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9130:Sun3
|
UTSW |
11 |
8,968,170 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9454:Sun3
|
UTSW |
11 |
8,988,281 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation