Incidental Mutation 'R9703:Syde1'
| ID |
729670 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syde1
|
| Ensembl Gene |
ENSMUSG00000032714 |
| Gene Name |
synapse defective 1, Rho GTPase, homolog 1 (C. elegans) |
| Synonyms |
1200008N06Rik, mSYD1A |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9703 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78420337-78427798 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 78421557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Methionine
at position 665
(L665M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040580]
[ENSMUST00000105384]
[ENSMUST00000218215]
[ENSMUST00000218271]
[ENSMUST00000218875]
[ENSMUST00000218885]
[ENSMUST00000220430]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040580
AA Change: L665M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043085
Gene: ENSMUSG00000032714
AA Change: L665M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
37 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
56 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
114 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
147 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
321 |
335 |
N/A |
INTRINSIC |
|
RhoGAP
|
411 |
601 |
1.49e-56 |
SMART |
|
low complexity region
|
638 |
652 |
N/A |
INTRINSIC |
|
low complexity region
|
681 |
694 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105384
|
| SMART Domains |
Protein: ENSMUSP00000101023
Gene: ENSMUSG00000032763
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:TPP_enzyme_N
|
52 |
220 |
1.4e-53 |
PFAM |
|
Pfam:TPP_enzyme_M
|
273 |
405 |
2.1e-16 |
PFAM |
|
Pfam:TPP_enzyme_C
|
467 |
618 |
3.1e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218215
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218271
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218875
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218885
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219588
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220430
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 98.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Rho GTPase-activating protein highly expressed in placenta. The encoded protein is involved in cytoskeletal remodeling and trophoblast cell migration. Decreased expression of this gene has been associated with intrauterine growth restriction (IUGR). [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced miniature excitatory postsynaptic current freuqency and docked vesciles in CA1 synpases. Mice homozygous for another allele exhibit reduced embryos and placental weight with abnormal placenta morphology and placental vasculature. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
T |
A |
8: 41,248,971 (GRCm39) |
N360K |
probably damaging |
Het |
| Aoc1l2 |
A |
G |
6: 48,909,629 (GRCm39) |
T625A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,030,507 (GRCm39) |
L82Q |
probably damaging |
Het |
| Arhgap30 |
T |
G |
1: 171,235,339 (GRCm39) |
L571R |
probably damaging |
Het |
| Atg9a |
C |
T |
1: 75,162,431 (GRCm39) |
C493Y |
probably damaging |
Het |
| Brip1 |
T |
C |
11: 85,952,830 (GRCm39) |
T984A |
possibly damaging |
Het |
| Btbd9 |
A |
G |
17: 30,749,200 (GRCm39) |
V38A |
possibly damaging |
Het |
| Crocc2 |
C |
A |
1: 93,130,444 (GRCm39) |
D908E |
probably benign |
Het |
| Crybg3 |
C |
G |
16: 59,375,939 (GRCm39) |
A58P |
probably damaging |
Het |
| Cts7 |
T |
C |
13: 61,504,350 (GRCm39) |
N71S |
probably damaging |
Het |
| Ddx46 |
A |
G |
13: 55,824,635 (GRCm39) |
Y962C |
probably damaging |
Het |
| Dock10 |
G |
A |
1: 80,517,540 (GRCm39) |
R1373C |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,781,989 (GRCm39) |
*2043R |
probably null |
Het |
| Efs |
A |
T |
14: 55,156,871 (GRCm39) |
V388E |
possibly damaging |
Het |
| Esyt1 |
C |
T |
10: 128,354,796 (GRCm39) |
|
probably null |
Het |
| Extl3 |
G |
T |
14: 65,292,103 (GRCm39) |
R907S |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,806,400 (GRCm39) |
V2123M |
probably damaging |
Het |
| Gas2l3 |
C |
T |
10: 89,249,943 (GRCm39) |
A392T |
probably benign |
Het |
| Golm1 |
A |
T |
13: 59,797,433 (GRCm39) |
D137E |
probably benign |
Het |
| Grxcr2 |
T |
C |
18: 42,124,988 (GRCm39) |
D140G |
possibly damaging |
Het |
| H2ac19 |
G |
A |
3: 96,147,557 (GRCm39) |
R4C |
probably benign |
Het |
| Hrh1 |
G |
A |
6: 114,457,979 (GRCm39) |
C420Y |
probably benign |
Het |
| Ints13 |
A |
T |
6: 146,459,063 (GRCm39) |
L316Q |
probably damaging |
Het |
| Iws1 |
T |
A |
18: 32,212,738 (GRCm39) |
D55E |
probably damaging |
Het |
| Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
| Klrc2 |
G |
C |
6: 129,633,407 (GRCm39) |
S215* |
probably null |
Het |
| Muc5b |
A |
G |
7: 141,425,535 (GRCm39) |
T4727A |
possibly damaging |
Het |
| Nsd3 |
T |
C |
8: 26,131,228 (GRCm39) |
S198P |
probably benign |
Het |
| Or2n1b |
A |
T |
17: 38,459,856 (GRCm39) |
I126F |
possibly damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,286 (GRCm39) |
I11N |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,383,777 (GRCm39) |
I523F |
probably damaging |
Het |
| Pals1 |
T |
A |
12: 78,843,850 (GRCm39) |
I18K |
probably benign |
Het |
| Pcdhb1 |
T |
A |
18: 37,399,019 (GRCm39) |
D323E |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,826,142 (GRCm39) |
|
probably null |
Het |
| Pigc |
T |
A |
1: 161,798,176 (GRCm39) |
F53I |
probably benign |
Het |
| Pramel29 |
T |
A |
4: 143,939,510 (GRCm39) |
D9V |
probably damaging |
Het |
| Prph2 |
G |
A |
17: 47,234,447 (GRCm39) |
A339T |
unknown |
Het |
| Prrc2a |
T |
C |
17: 35,378,320 (GRCm39) |
K452E |
unknown |
Het |
| Rab36 |
T |
C |
10: 74,886,474 (GRCm39) |
W151R |
possibly damaging |
Het |
| Sdk1 |
A |
G |
5: 142,100,283 (GRCm39) |
T1438A |
possibly damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,224,193 (GRCm39) |
I55K |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,739,744 (GRCm39) |
I3401N |
possibly damaging |
Het |
| Smpd3 |
T |
A |
8: 106,991,713 (GRCm39) |
H280L |
probably damaging |
Het |
| Srsf10 |
A |
G |
4: 135,591,153 (GRCm39) |
H202R |
probably benign |
Het |
| Swap70 |
C |
T |
7: 109,872,512 (GRCm39) |
R376C |
probably damaging |
Het |
| Tha1 |
A |
G |
11: 117,761,863 (GRCm39) |
V126A |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,293,938 (GRCm39) |
H230R |
probably damaging |
Het |
| Tnc |
G |
A |
4: 63,889,412 (GRCm39) |
A1698V |
probably benign |
Het |
| Twist2 |
C |
A |
1: 91,729,744 (GRCm39) |
S132R |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,732,092 (GRCm39) |
C1170Y |
probably damaging |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
|
| Other mutations in Syde1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Syde1
|
APN |
10 |
78,421,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Syde1
|
APN |
10 |
78,424,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01529:Syde1
|
APN |
10 |
78,426,015 (GRCm39) |
missense |
probably benign |
|
|
IGL01869:Syde1
|
APN |
10 |
78,424,753 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02098:Syde1
|
APN |
10 |
78,425,205 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03187:Syde1
|
APN |
10 |
78,424,943 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0014:Syde1
|
UTSW |
10 |
78,425,868 (GRCm39) |
missense |
probably benign |
|
|
R0561:Syde1
|
UTSW |
10 |
78,425,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:Syde1
|
UTSW |
10 |
78,424,929 (GRCm39) |
unclassified |
probably benign |
|
|
R1713:Syde1
|
UTSW |
10 |
78,421,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Syde1
|
UTSW |
10 |
78,422,814 (GRCm39) |
missense |
probably benign |
|
|
R4491:Syde1
|
UTSW |
10 |
78,426,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4846:Syde1
|
UTSW |
10 |
78,424,731 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5092:Syde1
|
UTSW |
10 |
78,425,252 (GRCm39) |
missense |
probably benign |
|
|
R5287:Syde1
|
UTSW |
10 |
78,425,871 (GRCm39) |
missense |
probably benign |
|
|
R5611:Syde1
|
UTSW |
10 |
78,421,725 (GRCm39) |
missense |
probably benign |
|
|
R5951:Syde1
|
UTSW |
10 |
78,425,150 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5957:Syde1
|
UTSW |
10 |
78,425,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Syde1
|
UTSW |
10 |
78,421,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7083:Syde1
|
UTSW |
10 |
78,422,903 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7150:Syde1
|
UTSW |
10 |
78,422,032 (GRCm39) |
nonsense |
probably null |
|
|
R7239:Syde1
|
UTSW |
10 |
78,424,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7799:Syde1
|
UTSW |
10 |
78,425,741 (GRCm39) |
missense |
probably benign |
|
|
R7947:Syde1
|
UTSW |
10 |
78,425,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Syde1
|
UTSW |
10 |
78,425,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8946:Syde1
|
UTSW |
10 |
78,424,683 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9104:Syde1
|
UTSW |
10 |
78,421,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9132:Syde1
|
UTSW |
10 |
78,425,340 (GRCm39) |
missense |
probably benign |
|
|
R9728:Syde1
|
UTSW |
10 |
78,424,638 (GRCm39) |
frame shift |
probably null |
|
|
Z1176:Syde1
|
UTSW |
10 |
78,421,965 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGATCTGCTTGGAGAGTTCTCTC -3'
(R):5'- CTTTTGGACCCCGCAGATAC -3'
Sequencing Primer
(F):5'- TCTCTCCAGATCCAGGATGAG -3'
(R):5'- GATACCAGACGGCCCTCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation