Incidental Mutation 'IGL01473:Sun3'
| ID |
88339 |
| 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: 0.053)
|
| Stock # |
IGL01473
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
8966054-8998991 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 8979394 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 42
(D42E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099973
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043377]
[ENSMUST00000102909]
|
| AlphaFold |
Q5SS91 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043377
AA Change: D102E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000045199
Gene: ENSMUSG00000040985
AA Change: D102E
| 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 benign
Transcript: ENSMUST00000102909
AA Change: D42E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000099973
Gene: ENSMUSG00000040985
AA Change: D42E
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp13a5 |
T |
C |
16: 29,135,542 (GRCm39) |
Y350C |
probably damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Clcn1 |
C |
A |
6: 42,268,637 (GRCm39) |
A181D |
probably damaging |
Het |
| Cylc1 |
G |
T |
X: 110,166,449 (GRCm39) |
K243N |
unknown |
Het |
| Dsp |
A |
G |
13: 38,351,547 (GRCm39) |
Y122C |
probably damaging |
Het |
| Exoc5 |
A |
G |
14: 49,251,751 (GRCm39) |
V665A |
possibly damaging |
Het |
| Fcho1 |
G |
A |
8: 72,164,782 (GRCm39) |
P500S |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,327 (GRCm39) |
E785G |
unknown |
Het |
| Fpr1 |
A |
G |
17: 18,097,954 (GRCm39) |
S12P |
possibly damaging |
Het |
| Hydin |
G |
T |
8: 111,081,585 (GRCm39) |
G327V |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,038,792 (GRCm39) |
M177L |
probably benign |
Het |
| Itga10 |
G |
A |
3: 96,554,957 (GRCm39) |
G97E |
probably damaging |
Het |
| Khdc1c |
T |
A |
1: 21,439,130 (GRCm39) |
Y39N |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 40,501,498 (GRCm39) |
T202P |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,280,431 (GRCm39) |
K618R |
probably damaging |
Het |
| Mdc1 |
C |
A |
17: 36,158,912 (GRCm39) |
L431I |
probably benign |
Het |
| Mmp17 |
A |
G |
5: 129,683,472 (GRCm39) |
D536G |
probably benign |
Het |
| Myh8 |
G |
A |
11: 67,192,651 (GRCm39) |
|
probably null |
Het |
| Odad3 |
C |
A |
9: 21,906,675 (GRCm39) |
|
probably null |
Het |
| Pop4 |
A |
G |
7: 37,963,820 (GRCm39) |
V154A |
probably benign |
Het |
| Ppp1r13l |
C |
T |
7: 19,109,193 (GRCm39) |
R608C |
probably damaging |
Het |
| Prss36 |
T |
C |
7: 127,543,873 (GRCm39) |
H166R |
probably damaging |
Het |
| Rab11fip3 |
C |
T |
17: 26,287,709 (GRCm39) |
R148Q |
possibly damaging |
Het |
| Rbm39 |
T |
A |
2: 156,014,899 (GRCm39) |
R49* |
probably null |
Het |
| S100a11 |
T |
C |
3: 93,433,413 (GRCm39) |
C86R |
probably damaging |
Het |
| Skint7 |
T |
C |
4: 111,839,402 (GRCm39) |
I232T |
probably damaging |
Het |
| Smchd1 |
G |
A |
17: 71,696,745 (GRCm39) |
T1210I |
probably benign |
Het |
| Speg |
C |
T |
1: 75,404,929 (GRCm39) |
T2907I |
possibly damaging |
Het |
| Spz1 |
A |
T |
13: 92,711,764 (GRCm39) |
C237* |
probably null |
Het |
| Tgds |
C |
T |
14: 118,365,626 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,904,675 (GRCm39) |
D1270N |
probably damaging |
Het |
| Vmn2r78 |
A |
C |
7: 86,569,520 (GRCm39) |
T138P |
possibly damaging |
Het |
| Wdfy1 |
T |
C |
1: 79,685,182 (GRCm39) |
I351V |
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 |
|
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 |
2013-11-18 |
Incidental Mutation