Incidental Mutation 'IGL01400:Snapc3'
| ID |
79605 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Snapc3
|
| Ensembl Gene |
ENSMUSG00000028483 |
| Gene Name |
small nuclear RNA activating complex, polypeptide 3 |
| Synonyms |
4930558A07Rik, E030018J20Rik, 5031401C21Rik, 1810020H02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
IGL01400
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
83335961-83385913 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 83368414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 304
(P304S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030206]
[ENSMUST00000123262]
[ENSMUST00000124856]
[ENSMUST00000137512]
[ENSMUST00000143533]
|
| AlphaFold |
Q9D2C9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030206
AA Change: P304S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030206
Gene: ENSMUSG00000028483
AA Change: P304S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
198 |
401 |
6.5e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123262
AA Change: P304S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
AA Change: P304S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000124856
AA Change: P304S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
AA Change: P304S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137512
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143533
AA Change: P304S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
AA Change: P304S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160742
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,390,960 (GRCm39) |
I133N |
probably damaging |
Het |
| Abl2 |
T |
G |
1: 156,462,754 (GRCm39) |
C510G |
probably damaging |
Het |
| Ambp |
T |
C |
4: 63,070,959 (GRCm39) |
Y40C |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,528,454 (GRCm39) |
A311V |
probably damaging |
Het |
| Cass4 |
A |
G |
2: 172,269,220 (GRCm39) |
D434G |
probably damaging |
Het |
| Cep250 |
A |
C |
2: 155,840,211 (GRCm39) |
T2390P |
possibly damaging |
Het |
| Cpm |
C |
A |
10: 117,495,680 (GRCm39) |
N56K |
probably benign |
Het |
| Cspp1 |
T |
C |
1: 10,156,156 (GRCm39) |
L455P |
probably damaging |
Het |
| Dcx |
T |
C |
X: 142,714,150 (GRCm39) |
K51E |
possibly damaging |
Het |
| Ehd3 |
T |
C |
17: 74,135,089 (GRCm39) |
F322L |
probably benign |
Het |
| Ell |
A |
G |
8: 71,031,563 (GRCm39) |
D87G |
probably damaging |
Het |
| Epor |
C |
T |
9: 21,870,735 (GRCm39) |
|
probably null |
Het |
| Exosc10 |
T |
G |
4: 148,649,728 (GRCm39) |
M386R |
probably damaging |
Het |
| Gpr152 |
T |
C |
19: 4,193,626 (GRCm39) |
I389T |
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,242 (GRCm39) |
E667D |
probably benign |
Het |
| Kmo |
T |
A |
1: 175,482,661 (GRCm39) |
D328E |
possibly damaging |
Het |
| Llgl1 |
A |
G |
11: 60,597,316 (GRCm39) |
H255R |
probably damaging |
Het |
| Lrch3 |
T |
A |
16: 32,799,911 (GRCm39) |
H416Q |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Mdm1 |
T |
G |
10: 117,993,156 (GRCm39) |
H320Q |
probably damaging |
Het |
| Nol4 |
T |
A |
18: 22,956,555 (GRCm39) |
H209L |
probably damaging |
Het |
| Or5p58 |
A |
T |
7: 107,694,046 (GRCm39) |
C244S |
probably damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,279,339 (GRCm39) |
V773A |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,404,954 (GRCm39) |
N393S |
probably benign |
Het |
| Pik3r5 |
A |
G |
11: 68,385,373 (GRCm39) |
K700R |
probably benign |
Het |
| Prob1 |
G |
A |
18: 35,786,386 (GRCm39) |
R623C |
possibly damaging |
Het |
| Slc14a2 |
T |
C |
18: 78,235,428 (GRCm39) |
N112D |
probably damaging |
Het |
| Spin2c |
T |
A |
X: 152,616,621 (GRCm39) |
W145R |
probably damaging |
Het |
| Tmem131l |
T |
C |
3: 83,829,429 (GRCm39) |
E1075G |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,729,699 (GRCm39) |
R995Q |
probably damaging |
Het |
| Trpm6 |
T |
A |
19: 18,803,158 (GRCm39) |
L867* |
probably null |
Het |
| Vmn1r87 |
T |
G |
7: 12,866,230 (GRCm39) |
H19P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,273 (GRCm39) |
E139G |
possibly damaging |
Het |
|
| Other mutations in Snapc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Snapc3
|
APN |
4 |
83,354,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02031:Snapc3
|
APN |
4 |
83,336,213 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02475:Snapc3
|
APN |
4 |
83,368,333 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03141:Snapc3
|
APN |
4 |
83,353,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0417:Snapc3
|
UTSW |
4 |
83,368,399 (GRCm39) |
missense |
probably benign |
0.41 |
|
R0628:Snapc3
|
UTSW |
4 |
83,368,397 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0631:Snapc3
|
UTSW |
4 |
83,336,039 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0647:Snapc3
|
UTSW |
4 |
83,368,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2328:Snapc3
|
UTSW |
4 |
83,353,514 (GRCm39) |
nonsense |
probably null |
|
|
R4454:Snapc3
|
UTSW |
4 |
83,336,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Snapc3
|
UTSW |
4 |
83,383,134 (GRCm39) |
intron |
probably benign |
|
|
R6497:Snapc3
|
UTSW |
4 |
83,371,363 (GRCm39) |
nonsense |
probably null |
|
|
R6762:Snapc3
|
UTSW |
4 |
83,353,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Snapc3
|
UTSW |
4 |
83,353,507 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7599:Snapc3
|
UTSW |
4 |
83,336,073 (GRCm39) |
nonsense |
probably null |
|
|
R7880:Snapc3
|
UTSW |
4 |
83,353,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Snapc3
|
UTSW |
4 |
83,369,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9412:Snapc3
|
UTSW |
4 |
83,354,570 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2013-11-05 |
Incidental Mutation