Incidental Mutation 'R4198:Syp'
| ID | 318661 |
|---|
| Institutional Source |
Beutler Lab
|
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| Gene Symbol |
Syp
|
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| Ensembl Gene |
ENSMUSG00000031144 |
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| Gene Name | synaptophysin |
|---|
| Synonyms | p38, Syp I, Syn, A230093K24Rik |
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| MMRRC Submission |
041640-MU
|
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| Accession Numbers | |
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| Is this an essential gene? |
Possibly non essential (E-score: 0.267)
|
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| Stock # | R4198 (G1)
|
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| Quality Score | 222 |
|---|
| Status |
Not validated
|
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| Chromosome | X |
|---|
| Chromosomal Location | 7638471-7653256 bp(+) (GRCm38) |
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| Type of Mutation | splice site (4 bp from exon) |
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| DNA Base Change (assembly) |
A to G
at 7639927 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069520]
[ENSMUST00000069520]
[ENSMUST00000115725]
[ENSMUST00000115726]
[ENSMUST00000155090]
|
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| Predicted Effect |
probably null
Transcript: ENSMUST00000069520
|
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| SMART Domains |
Protein: ENSMUSP00000069429
Gene: ENSMUSG00000031144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
21 |
222 |
5.7e-47 |
PFAM |
|
low complexity region
|
244 |
307 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000069520
|
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| SMART Domains |
Protein: ENSMUSP00000069429
Gene: ENSMUSG00000031144
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
21 |
222 |
5.7e-47 |
PFAM |
|
low complexity region
|
244 |
307 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115725
|
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| SMART Domains |
Protein: ENSMUSP00000111390
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
129 |
371 |
9.3e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
2e-21 |
PDB |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
transmembrane domain
|
525 |
547 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
563 |
757 |
3.8e-44 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
909 |
1139 |
1.1e-50 |
PFAM |
|
Pfam:Ion_trans
|
1227 |
1436 |
2.7e-64 |
PFAM |
|
Pfam:PKD_channel
|
1272 |
1443 |
1e-10 |
PFAM |
|
Blast:EFh
|
1457 |
1485 |
2e-8 |
BLAST |
|
Ca_chan_IQ
|
1571 |
1605 |
3.71e-14 |
SMART |
|
low complexity region
|
1636 |
1655 |
N/A |
INTRINSIC |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000115726
|
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| SMART Domains |
Protein: ENSMUSP00000111391
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ion_trans
|
91 |
383 |
2.1e-70 |
PFAM |
|
low complexity region
|
455 |
469 |
N/A |
INTRINSIC |
|
low complexity region
|
479 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
525 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
528 |
768 |
3.8e-54 |
PFAM |
|
coiled coil region
|
806 |
834 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
873 |
1151 |
2.4e-59 |
PFAM |
|
Pfam:Ion_trans
|
1192 |
1455 |
2.6e-67 |
PFAM |
|
Pfam:PKD_channel
|
1285 |
1450 |
8.5e-10 |
PFAM |
|
Pfam:GPHH
|
1457 |
1526 |
2.7e-37 |
PFAM |
|
Ca_chan_IQ
|
1578 |
1612 |
3.71e-14 |
SMART |
|
Pfam:CAC1F_C
|
1622 |
1983 |
1.5e-164 |
PFAM |
|
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| Predicted Effect |
probably null
Transcript: ENSMUST00000128890
|
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| SMART Domains |
Protein: ENSMUSP00000118544
Gene: ENSMUSG00000031144
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
46 |
165 |
2.3e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128890
|
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| SMART Domains |
Protein: ENSMUSP00000118544
Gene: ENSMUSG00000031144
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
46 |
165 |
2.3e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128890
|
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| SMART Domains |
Protein: ENSMUSP00000118544
Gene: ENSMUSG00000031144
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
46 |
165 |
2.3e-22 |
PFAM |
|
|---|
| Predicted Effect |
probably null
Transcript: ENSMUST00000128890
|
|---|
| SMART Domains |
Protein: ENSMUSP00000118544
Gene: ENSMUSG00000031144
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
33 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
46 |
165 |
2.3e-22 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134355
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137515
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141634
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149795
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150572
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000155090
|
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| SMART Domains |
Protein: ENSMUSP00000138116
Gene: ENSMUSG00000031142
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
96 |
115 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
129 |
371 |
1.1e-59 |
PFAM |
|
PDB:4DEY|B
|
372 |
415 |
4e-22 |
PDB |
|
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| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.4%
|
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| Validation Efficiency |
|
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| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments. Mutations in this gene are associated with X-linked mental retardation (XLMR). [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for either one of two independently generated knock-out mutations are viable and fertile and display normal central nervous system morphology and synaptic transmission with no detectable changes in synaptic plasticity or neurotransmitter release. [provided by MGI curators]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
G |
A |
1: 58,085,607 |
M1002I |
probably benign |
Het |
| Ap2b1 |
C |
A |
11: 83,342,603 |
Q481K |
probably damaging |
Het |
| Arhgap31 |
G |
A |
16: 38,623,913 |
A194V |
probably damaging |
Het |
| Atp10a |
A |
G |
7: 58,813,686 |
D989G |
probably damaging |
Het |
| Ccny |
G |
A |
18: 9,332,928 |
T201I |
probably damaging |
Het |
| Cdca5 |
T |
C |
19: 6,090,352 |
V181A |
possibly damaging |
Het |
| Ces1g |
A |
G |
8: 93,305,868 |
I488T |
probably benign |
Het |
| Csmd2 |
A |
G |
4: 128,510,924 |
T2368A |
probably benign |
Het |
| Cux1 |
T |
A |
5: 136,286,848 |
I1113F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,922,838 |
G4033D |
probably damaging |
Het |
| Fam122c |
G |
A |
X: 53,293,499 |
R94H |
possibly damaging |
Het |
| Foxg1 |
T |
A |
12: 49,385,299 |
S272T |
possibly damaging |
Het |
| Fyco1 |
T |
C |
9: 123,826,634 |
N1020D |
probably benign |
Het |
| Gprc5c |
T |
G |
11: 114,863,860 |
L121R |
probably damaging |
Het |
| Hyou1 |
G |
A |
9: 44,388,859 |
R815H |
probably damaging |
Het |
| Kera |
T |
C |
10: 97,612,973 |
*352Q |
probably null |
Het |
| Kirrel |
C |
T |
3: 87,089,151 |
M380I |
probably null |
Het |
| Lnpk |
T |
C |
2: 74,569,109 |
E30G |
probably damaging |
Het |
| Map2 |
C |
T |
1: 66,425,298 |
R128C |
probably damaging |
Het |
| Olfr1357 |
A |
T |
10: 78,612,067 |
D191E |
possibly damaging |
Het |
| Olfr1381 |
G |
A |
11: 49,552,634 |
V296M |
possibly damaging |
Het |
| Olfr573-ps1 |
A |
G |
7: 102,941,797 |
F260S |
probably damaging |
Het |
| Olfr97 |
T |
A |
17: 37,232,134 |
M79L |
probably benign |
Het |
| Ror2 |
A |
G |
13: 53,110,644 |
M792T |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,202,674 |
|
probably null |
Het |
| Serpinb9d |
A |
G |
13: 33,202,965 |
I339V |
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,901,452 |
K197R |
probably benign |
Het |
| Snx20 |
A |
G |
8: 88,627,598 |
V168A |
possibly damaging |
Het |
| Sowaha |
T |
C |
11: 53,478,568 |
E447G |
possibly damaging |
Het |
| Stard8 |
AGAGGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGAGGA |
X: 99,066,508 |
|
probably benign |
Het |
| Stx19 |
G |
T |
16: 62,822,676 |
C285F |
possibly damaging |
Het |
| Tbkbp1 |
C |
T |
11: 97,149,068 |
|
probably null |
Het |
| Trim29 |
G |
T |
9: 43,311,380 |
E169* |
probably null |
Het |
| Ttll12 |
T |
C |
15: 83,577,013 |
N602D |
probably damaging |
Het |
| Zfp26 |
T |
C |
9: 20,436,716 |
T851A |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,254,471 |
M598V |
probably benign |
Het |
| Zhx2 |
A |
G |
15: 57,821,729 |
I165V |
probably benign |
Het |
|
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| Other mutations in Syp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1466:Syp
|
UTSW |
X |
7648705 |
unclassified |
probably benign |
|
|
R1466:Syp
|
UTSW |
X |
7648705 |
unclassified |
probably benign |
|
|
R4199:Syp
|
UTSW |
X |
7639927 |
splice site |
probably null |
|
|
R4276:Syp
|
UTSW |
X |
7638692 |
unclassified |
probably benign |
|
|
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| Predicted Primers |
PCR Primer
(F):5'- TCACATGTCCTATCCCCAGG -3'
(R):5'- TCACTTCACAACAGGGGTAC -3'
Sequencing Primer
(F):5'- CCAGGGATCATTGCTTGGCAG -3'
(R):5'- CACGGCCTTATGTGACGTCATAG -3'
|
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| Posted On | 2015-06-10 |
|---|
