Incidental Mutation 'IGL00824:Sypl1'
| ID |
14329 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sypl1
|
| Ensembl Gene |
ENSMUSG00000020570 |
| Gene Name |
synaptophysin like 1 |
| Synonyms |
D12Ertd446e, Pphn, Pan I, Sypl |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00824
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
33003874-33029503 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 33015505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020885]
[ENSMUST00000076698]
[ENSMUST00000122861]
|
| AlphaFold |
O09117 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020885
|
| SMART Domains |
Protein: ENSMUSP00000020885
Gene: ENSMUSG00000020570
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
10 |
215 |
6.9e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076698
|
| SMART Domains |
Protein: ENSMUSP00000075990
Gene: ENSMUSG00000020570
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
28 |
233 |
1.3e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122861
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129592
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131562
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139339
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218816
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atl1 |
A |
G |
12: 69,979,012 (GRCm39) |
T147A |
probably damaging |
Het |
| Cdh17 |
A |
G |
4: 11,784,675 (GRCm39) |
K277R |
probably benign |
Het |
| Cyp2j5 |
A |
G |
4: 96,552,160 (GRCm39) |
F30L |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,532,485 (GRCm39) |
V3134E |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,687,910 (GRCm39) |
V230A |
probably benign |
Het |
| Mgst2 |
C |
T |
3: 51,589,999 (GRCm39) |
P146S |
probably benign |
Het |
| Myrfl |
T |
C |
10: 116,685,264 (GRCm39) |
|
probably benign |
Het |
| Nat8f5 |
A |
C |
6: 85,794,279 (GRCm39) |
L227R |
probably damaging |
Het |
| Osbpl2 |
G |
A |
2: 179,792,060 (GRCm39) |
V255M |
probably benign |
Het |
| Papln |
A |
G |
12: 83,817,210 (GRCm39) |
S27G |
possibly damaging |
Het |
| Paqr7 |
A |
G |
4: 134,234,278 (GRCm39) |
Y45C |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,151,408 (GRCm39) |
|
probably null |
Het |
| Plrg1 |
C |
T |
3: 82,975,642 (GRCm39) |
T295I |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,670 (GRCm39) |
I837V |
possibly damaging |
Het |
| Tmco3 |
T |
A |
8: 13,342,825 (GRCm39) |
V187E |
probably damaging |
Het |
| Trmt2b |
T |
C |
X: 133,168,154 (GRCm39) |
I47M |
possibly damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,916,438 (GRCm39) |
N350K |
probably benign |
Het |
| Zfp687 |
A |
G |
3: 94,916,496 (GRCm39) |
L842P |
probably damaging |
Het |
|
| Other mutations in Sypl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Sypl1
|
APN |
12 |
33,004,293 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01778:Sypl1
|
APN |
12 |
33,025,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Sypl1
|
APN |
12 |
33,017,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0524:Sypl1
|
UTSW |
12 |
33,017,564 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0639:Sypl1
|
UTSW |
12 |
33,015,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0673:Sypl1
|
UTSW |
12 |
33,015,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1463:Sypl1
|
UTSW |
12 |
33,024,332 (GRCm39) |
unclassified |
probably benign |
|
|
R4829:Sypl1
|
UTSW |
12 |
33,017,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Sypl1
|
UTSW |
12 |
33,024,254 (GRCm39) |
missense |
probably benign |
|
|
R8993:Sypl1
|
UTSW |
12 |
33,025,662 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9199:Sypl1
|
UTSW |
12 |
33,016,463 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation