Incidental Mutation 'IGL02498:Syde2'
| ID |
295903 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syde2
|
| Ensembl Gene |
ENSMUSG00000036863 |
| Gene Name |
synapse defective 1, Rho GTPase, homolog 2 (C. elegans) |
| Synonyms |
C430017H16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL02498
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 145704444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 465
(H465Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039517]
[ENSMUST00000200546]
[ENSMUST00000212479]
|
| AlphaFold |
E9PUP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039517
AA Change: H465Q
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: H465Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
116 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
185 |
N/A |
INTRINSIC |
|
low complexity region
|
197 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
623 |
636 |
N/A |
INTRINSIC |
|
C2
|
802 |
902 |
1.1e0 |
SMART |
|
RhoGAP
|
950 |
1149 |
1.23e-57 |
SMART |
|
Blast:RhoGAP
|
1151 |
1299 |
2e-50 |
BLAST |
|
low complexity region
|
1300 |
1311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200546
AA Change: H197Q
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: H197Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
355 |
368 |
N/A |
INTRINSIC |
|
C2
|
534 |
634 |
7.2e-3 |
SMART |
|
RhoGAP
|
682 |
881 |
7.3e-60 |
SMART |
|
Blast:RhoGAP
|
883 |
1031 |
2e-50 |
BLAST |
|
low complexity region
|
1032 |
1043 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212479
AA Change: H198Q
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,617,265 (GRCm39) |
|
probably null |
Het |
| Abcg8 |
T |
C |
17: 84,990,693 (GRCm39) |
W12R |
probably benign |
Het |
| Ablim1 |
A |
T |
19: 57,140,751 (GRCm39) |
C155* |
probably null |
Het |
| Adam33 |
A |
G |
2: 130,895,157 (GRCm39) |
C658R |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,664,135 (GRCm39) |
H357R |
possibly damaging |
Het |
| Adamts2 |
G |
T |
11: 50,668,023 (GRCm39) |
K528N |
probably damaging |
Het |
| Arhgef12 |
G |
A |
9: 42,893,339 (GRCm39) |
P955S |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,770,815 (GRCm39) |
I365F |
probably damaging |
Het |
| AW112010 |
T |
C |
19: 11,025,701 (GRCm39) |
|
noncoding transcript |
Het |
| AY358078 |
T |
C |
14: 52,040,944 (GRCm39) |
S88P |
probably benign |
Het |
| Cdc42bpg |
T |
C |
19: 6,372,823 (GRCm39) |
L1504S |
probably benign |
Het |
| Cracdl |
T |
C |
1: 37,662,926 (GRCm39) |
T991A |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,367,441 (GRCm39) |
H593L |
probably damaging |
Het |
| Gm10463 |
T |
C |
5: 32,288,742 (GRCm39) |
|
probably benign |
Het |
| Grm1 |
A |
T |
10: 10,595,723 (GRCm39) |
L635Q |
probably damaging |
Het |
| Herc4 |
T |
C |
10: 63,109,244 (GRCm39) |
C160R |
probably benign |
Het |
| Hs6st1 |
G |
A |
1: 36,142,821 (GRCm39) |
R252H |
probably damaging |
Het |
| Litaf |
A |
G |
16: 10,784,423 (GRCm39) |
V29A |
possibly damaging |
Het |
| Lmo7 |
G |
A |
14: 102,044,918 (GRCm39) |
V57I |
probably benign |
Het |
| Loxl4 |
A |
T |
19: 42,593,412 (GRCm39) |
L253Q |
probably benign |
Het |
| Mon2 |
C |
T |
10: 122,870,235 (GRCm39) |
V458I |
probably benign |
Het |
| Ncstn |
G |
T |
1: 171,896,159 (GRCm39) |
F506L |
probably benign |
Het |
| Nedd8 |
T |
A |
14: 55,901,273 (GRCm39) |
D21V |
probably damaging |
Het |
| Oas1c |
T |
C |
5: 120,943,591 (GRCm39) |
T183A |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,488,920 (GRCm39) |
Y967N |
probably damaging |
Het |
| Phf2 |
A |
G |
13: 48,958,715 (GRCm39) |
S936P |
unknown |
Het |
| Pkd1 |
T |
C |
17: 24,804,753 (GRCm39) |
I3159T |
possibly damaging |
Het |
| Prrt3 |
C |
A |
6: 113,474,788 (GRCm39) |
V145F |
possibly damaging |
Het |
| Prx |
T |
A |
7: 27,217,497 (GRCm39) |
V666E |
probably damaging |
Het |
| Rapgef2 |
C |
T |
3: 78,974,060 (GRCm39) |
V1577M |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,564 (GRCm39) |
|
probably benign |
Het |
| Shoc2 |
T |
A |
19: 54,016,207 (GRCm39) |
L407* |
probably null |
Het |
| Slc6a12 |
A |
G |
6: 121,338,029 (GRCm39) |
M435V |
probably benign |
Het |
| Smarcc1 |
C |
T |
9: 110,020,002 (GRCm39) |
T623I |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,289,517 (GRCm39) |
L245S |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,713 (GRCm39) |
M820K |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
| Stoml2 |
C |
A |
4: 43,031,045 (GRCm39) |
V37L |
probably benign |
Het |
| Tmem164 |
T |
A |
X: 141,589,044 (GRCm39) |
V40D |
possibly damaging |
Het |
| Trim37 |
A |
G |
11: 87,075,876 (GRCm39) |
E494G |
probably benign |
Het |
| Triobp |
A |
G |
15: 78,845,243 (GRCm39) |
D195G |
probably benign |
Het |
| Unc79 |
G |
A |
12: 103,137,837 (GRCm39) |
V2427M |
probably damaging |
Het |
| Usp27x |
T |
C |
X: 7,239,780 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
T |
A |
17: 23,177,349 (GRCm39) |
V711D |
probably damaging |
Het |
| Zfp940 |
T |
C |
7: 29,546,376 (GRCm39) |
T7A |
probably damaging |
Het |
|
| Other mutations in Syde2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Syde2
|
APN |
3 |
145,720,096 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL01624:Syde2
|
APN |
3 |
145,712,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Syde2
|
APN |
3 |
145,707,927 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
IGL02195:Syde2
|
APN |
3 |
145,707,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02609:Syde2
|
APN |
3 |
145,704,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02721:Syde2
|
APN |
3 |
145,707,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02932:Syde2
|
APN |
3 |
145,707,231 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02957:Syde2
|
APN |
3 |
145,694,934 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Syde2
|
UTSW |
3 |
145,704,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0062:Syde2
|
UTSW |
3 |
145,704,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0413:Syde2
|
UTSW |
3 |
145,712,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0505:Syde2
|
UTSW |
3 |
145,720,135 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0535:Syde2
|
UTSW |
3 |
145,694,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0646:Syde2
|
UTSW |
3 |
145,720,004 (GRCm39) |
splice site |
probably null |
|
|
R1535:Syde2
|
UTSW |
3 |
145,708,176 (GRCm39) |
splice site |
probably benign |
|
|
R1914:Syde2
|
UTSW |
3 |
145,720,071 (GRCm39) |
nonsense |
probably null |
|
|
R1915:Syde2
|
UTSW |
3 |
145,720,071 (GRCm39) |
nonsense |
probably null |
|
|
R1997:Syde2
|
UTSW |
3 |
145,704,746 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2012:Syde2
|
UTSW |
3 |
145,694,163 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2112:Syde2
|
UTSW |
3 |
145,704,241 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2220:Syde2
|
UTSW |
3 |
145,707,713 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2990:Syde2
|
UTSW |
3 |
145,707,252 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4022:Syde2
|
UTSW |
3 |
145,721,480 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5077:Syde2
|
UTSW |
3 |
145,707,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Syde2
|
UTSW |
3 |
145,707,163 (GRCm39) |
nonsense |
probably null |
|
|
R5084:Syde2
|
UTSW |
3 |
145,707,164 (GRCm39) |
frame shift |
probably null |
|
|
R5086:Syde2
|
UTSW |
3 |
145,707,163 (GRCm39) |
nonsense |
probably null |
|
|
R5087:Syde2
|
UTSW |
3 |
145,712,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5087:Syde2
|
UTSW |
3 |
145,707,163 (GRCm39) |
nonsense |
probably null |
|
|
R5101:Syde2
|
UTSW |
3 |
145,721,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5211:Syde2
|
UTSW |
3 |
145,707,093 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5842:Syde2
|
UTSW |
3 |
145,704,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6025:Syde2
|
UTSW |
3 |
145,712,896 (GRCm39) |
splice site |
probably null |
|
|
R6352:Syde2
|
UTSW |
3 |
145,704,229 (GRCm39) |
nonsense |
probably null |
|
|
R6384:Syde2
|
UTSW |
3 |
145,704,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6769:Syde2
|
UTSW |
3 |
145,704,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6771:Syde2
|
UTSW |
3 |
145,704,803 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6970:Syde2
|
UTSW |
3 |
145,694,381 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6988:Syde2
|
UTSW |
3 |
145,725,564 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7067:Syde2
|
UTSW |
3 |
145,694,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7146:Syde2
|
UTSW |
3 |
145,712,870 (GRCm39) |
nonsense |
probably null |
|
|
R7191:Syde2
|
UTSW |
3 |
145,708,113 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7246:Syde2
|
UTSW |
3 |
145,694,510 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7271:Syde2
|
UTSW |
3 |
145,726,031 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7307:Syde2
|
UTSW |
3 |
145,721,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7875:Syde2
|
UTSW |
3 |
145,726,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7903:Syde2
|
UTSW |
3 |
145,704,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Syde2
|
UTSW |
3 |
145,708,170 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8016:Syde2
|
UTSW |
3 |
145,707,727 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8185:Syde2
|
UTSW |
3 |
145,694,667 (GRCm39) |
missense |
probably benign |
|
|
R8328:Syde2
|
UTSW |
3 |
145,721,496 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8913:Syde2
|
UTSW |
3 |
145,708,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9800:Syde2
|
UTSW |
3 |
145,704,364 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation