Incidental Mutation 'IGL01597:Syngr4'
| ID |
91714 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syngr4
|
| Ensembl Gene |
ENSMUSG00000040231 |
| Gene Name |
synaptogyrin 4 |
| Synonyms |
1700016O14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
IGL01597
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45535502-45546152 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45536390 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 211
(T211A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047035
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002855]
[ENSMUST00000039049]
[ENSMUST00000120299]
[ENSMUST00000211234]
[ENSMUST00000211716]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002855
|
| SMART Domains |
Protein: ENSMUSP00000002855
Gene: ENSMUSG00000002778
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
23 |
N/A |
INTRINSIC |
|
Pfam:ER_lumen_recept
|
28 |
169 |
7.5e-58 |
PFAM |
|
transmembrane domain
|
178 |
200 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039049
AA Change: T211A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047035
Gene: ENSMUSG00000040231
AA Change: T211A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
18 |
163 |
2e-27 |
PFAM |
|
low complexity region
|
184 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120299
|
| SMART Domains |
Protein: ENSMUSP00000113955
Gene: ENSMUSG00000040231
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MARVEL
|
18 |
110 |
2.3e-12 |
PFAM |
|
low complexity region
|
113 |
129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211234
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211716
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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. The gene belongs to the synaptogyrin gene family. Like other members of the family the protein contains four transmembrane regions. The exact function of this protein is unclear. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cacna2d1 |
A |
T |
5: 16,531,390 (GRCm39) |
|
probably benign |
Het |
| Cdk12 |
A |
G |
11: 98,141,090 (GRCm39) |
|
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,937,001 (GRCm39) |
I357F |
probably benign |
Het |
| Dicer1 |
G |
A |
12: 104,671,469 (GRCm39) |
R934* |
probably null |
Het |
| Dnah9 |
A |
T |
11: 66,009,656 (GRCm39) |
Y744N |
probably damaging |
Het |
| Fgd5 |
T |
A |
6: 91,964,910 (GRCm39) |
I381N |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,691 (GRCm39) |
D147G |
probably damaging |
Het |
| Gpsm2 |
A |
T |
3: 108,604,303 (GRCm39) |
M385K |
probably benign |
Het |
| Hivep2 |
C |
T |
10: 14,025,118 (GRCm39) |
Q2311* |
probably null |
Het |
| Or51ah3 |
A |
G |
7: 103,210,349 (GRCm39) |
I222V |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,303 (GRCm39) |
V213A |
probably benign |
Het |
| Or5c1 |
A |
C |
2: 37,222,023 (GRCm39) |
D88A |
possibly damaging |
Het |
| Or7e173 |
A |
T |
9: 19,938,982 (GRCm39) |
M84K |
probably damaging |
Het |
| Papss2 |
G |
A |
19: 32,615,658 (GRCm39) |
R130H |
probably damaging |
Het |
| Pik3r5 |
A |
T |
11: 68,386,827 (GRCm39) |
I819F |
probably damaging |
Het |
| Pipox |
A |
G |
11: 77,774,019 (GRCm39) |
V199A |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,350,153 (GRCm39) |
V333L |
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,037,369 (GRCm39) |
|
probably benign |
Het |
| Scyl2 |
T |
A |
10: 89,488,849 (GRCm39) |
I489F |
probably damaging |
Het |
| Serinc4 |
T |
A |
2: 121,285,472 (GRCm39) |
L100F |
probably damaging |
Het |
| Slc39a12 |
T |
A |
2: 14,439,120 (GRCm39) |
F458Y |
possibly damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,080,652 (GRCm39) |
|
probably benign |
Het |
| Taar8a |
T |
C |
10: 23,952,756 (GRCm39) |
L120P |
possibly damaging |
Het |
| Tbx10 |
A |
G |
19: 4,046,736 (GRCm39) |
K72R |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,953,551 (GRCm39) |
T149A |
probably benign |
Het |
| Traip |
T |
A |
9: 107,833,123 (GRCm39) |
|
probably null |
Het |
| Trpm3 |
G |
A |
19: 22,692,610 (GRCm39) |
G234R |
probably damaging |
Het |
| Tubgcp5 |
A |
G |
7: 55,456,580 (GRCm39) |
|
probably benign |
Het |
| Vstm5 |
T |
C |
9: 15,168,675 (GRCm39) |
W80R |
probably damaging |
Het |
| Vwa5a |
A |
T |
9: 38,645,161 (GRCm39) |
R415S |
probably damaging |
Het |
| Zfp39 |
A |
G |
11: 58,782,369 (GRCm39) |
V131A |
probably damaging |
Het |
|
| Other mutations in Syngr4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1739:Syngr4
|
UTSW |
7 |
45,538,146 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2143:Syngr4
|
UTSW |
7 |
45,536,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2144:Syngr4
|
UTSW |
7 |
45,536,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2145:Syngr4
|
UTSW |
7 |
45,536,464 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3740:Syngr4
|
UTSW |
7 |
45,545,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3741:Syngr4
|
UTSW |
7 |
45,545,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3742:Syngr4
|
UTSW |
7 |
45,545,194 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4627:Syngr4
|
UTSW |
7 |
45,536,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Syngr4
|
UTSW |
7 |
45,538,122 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6767:Syngr4
|
UTSW |
7 |
45,536,915 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7207:Syngr4
|
UTSW |
7 |
45,538,101 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
| Posted On |
2013-12-09 |
Incidental Mutation