Incidental Mutation 'IGL01578:Sun3'
| ID |
91332 |
| 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 # |
IGL01578
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
8966054-8998991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8979436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 28
(E28D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043377]
[ENSMUST00000102909]
|
| AlphaFold |
Q5SS91 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043377
AA Change: E88D
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: E88D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Sad1_UNC
|
182 |
316 |
3.4e-48 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102909
AA Change: E28D
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: E28D
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap28 |
G |
A |
17: 68,165,195 (GRCm39) |
T516I |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,955,192 (GRCm39) |
C3486R |
probably benign |
Het |
| Camk2g |
G |
A |
14: 20,797,922 (GRCm39) |
|
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,300,194 (GRCm39) |
E3167G |
unknown |
Het |
| Dmxl1 |
T |
A |
18: 50,095,272 (GRCm39) |
H2950Q |
probably damaging |
Het |
| Eml6 |
A |
T |
11: 29,800,870 (GRCm39) |
S379T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,555,704 (GRCm39) |
H13Y |
probably damaging |
Het |
| Fam149a |
A |
T |
8: 45,803,479 (GRCm39) |
D337E |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 73,842,361 (GRCm39) |
|
probably benign |
Het |
| Gm6489 |
G |
T |
1: 31,326,416 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
G |
A |
4: 137,266,494 (GRCm39) |
R1885H |
probably damaging |
Het |
| Jag1 |
T |
A |
2: 136,941,971 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,809,503 (GRCm39) |
N216K |
probably benign |
Het |
| Ndst1 |
T |
C |
18: 60,846,198 (GRCm39) |
Y37C |
probably damaging |
Het |
| Nr2c2 |
A |
G |
6: 92,139,019 (GRCm39) |
N486S |
probably benign |
Het |
| Obscn |
A |
T |
11: 58,890,506 (GRCm39) |
L7342Q |
unknown |
Het |
| Or13l2 |
A |
T |
3: 97,318,036 (GRCm39) |
C154S |
probably damaging |
Het |
| Or56b2 |
A |
G |
7: 104,338,052 (GRCm39) |
I277V |
probably benign |
Het |
| Or8k20 |
C |
A |
2: 86,106,085 (GRCm39) |
V249F |
probably damaging |
Het |
| Pou4f2 |
A |
C |
8: 79,162,284 (GRCm39) |
D106E |
probably damaging |
Het |
| Ppic |
G |
A |
18: 53,551,001 (GRCm39) |
P10S |
unknown |
Het |
| Psd2 |
A |
G |
18: 36,112,838 (GRCm39) |
T178A |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,637,038 (GRCm39) |
N391K |
probably damaging |
Het |
| Slc25a34 |
G |
T |
4: 141,349,821 (GRCm39) |
|
probably null |
Het |
| Stap2 |
A |
G |
17: 56,304,623 (GRCm39) |
S360P |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,763,969 (GRCm39) |
E129G |
probably damaging |
Het |
| Tmem126a |
C |
T |
7: 90,100,750 (GRCm39) |
|
probably null |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Ttf2 |
A |
G |
3: 100,863,511 (GRCm39) |
S608P |
possibly damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,711,297 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sun3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01290:Sun3
|
APN |
11 |
8,973,341 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01473:Sun3
|
APN |
11 |
8,979,394 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
2013-12-09 |
Incidental Mutation