Incidental Mutation 'IGL02609:Syde2'
| ID |
300415 |
| 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: 0.087)
|
| Stock # |
IGL02609
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 145704275 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 142
(V142G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148542
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039517]
[ENSMUST00000200546]
[ENSMUST00000212479]
|
| AlphaFold |
E9PUP1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039517
AA Change: V409G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: V409G
| 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: V141G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: V141G
| 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: V142G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
G |
5: 99,381,854 (GRCm39) |
|
probably benign |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,506,307 (GRCm39) |
D128V |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,366,044 (GRCm39) |
Y520* |
probably null |
Het |
| Agrn |
A |
T |
4: 156,259,680 (GRCm39) |
|
probably benign |
Het |
| AI661453 |
A |
T |
17: 47,779,297 (GRCm39) |
|
probably benign |
Het |
| Arhgap6 |
A |
G |
X: 167,961,062 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
T |
C |
12: 3,550,018 (GRCm39) |
S587P |
probably damaging |
Het |
| B3gntl1 |
A |
G |
11: 121,535,427 (GRCm39) |
|
probably benign |
Het |
| Bahcc1 |
T |
C |
11: 120,180,224 (GRCm39) |
F2527L |
possibly damaging |
Het |
| Baz2b |
T |
A |
2: 59,747,713 (GRCm39) |
M1317L |
possibly damaging |
Het |
| Bcas3 |
A |
T |
11: 85,348,720 (GRCm39) |
K204I |
probably damaging |
Het |
| Bpnt2 |
T |
A |
4: 4,767,763 (GRCm39) |
R338* |
probably null |
Het |
| C1qtnf1 |
T |
C |
11: 118,338,830 (GRCm39) |
F167L |
probably damaging |
Het |
| Cfap58 |
C |
T |
19: 47,963,941 (GRCm39) |
T523M |
possibly damaging |
Het |
| Ddb1 |
T |
A |
19: 10,599,830 (GRCm39) |
C680S |
possibly damaging |
Het |
| Eef1d |
T |
C |
15: 75,768,162 (GRCm39) |
Q200R |
probably null |
Het |
| Gm10717 |
A |
T |
9: 3,026,287 (GRCm39) |
Y195F |
probably damaging |
Het |
| Gm28557 |
T |
A |
13: 67,219,083 (GRCm39) |
K214* |
probably null |
Het |
| Gm8229 |
A |
C |
14: 44,604,082 (GRCm39) |
E90D |
probably benign |
Het |
| Hhla1 |
T |
C |
15: 65,802,463 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,309,130 (GRCm39) |
H457Y |
probably damaging |
Het |
| Htr2c |
T |
C |
X: 145,976,756 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,438,134 (GRCm39) |
S384R |
probably damaging |
Het |
| Kirrel2 |
T |
C |
7: 30,147,765 (GRCm39) |
T628A |
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,749,674 (GRCm39) |
|
probably benign |
Het |
| Larp4b |
T |
A |
13: 9,220,716 (GRCm39) |
I655N |
probably damaging |
Het |
| Lrrd1 |
G |
A |
5: 3,908,803 (GRCm39) |
V692I |
probably benign |
Het |
| Lypd8l |
A |
T |
11: 58,503,442 (GRCm39) |
C29S |
probably damaging |
Het |
| Nes |
T |
C |
3: 87,884,528 (GRCm39) |
I929T |
probably benign |
Het |
| Ogfr |
T |
C |
2: 180,234,308 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
T |
10: 80,065,917 (GRCm39) |
E57V |
probably damaging |
Het |
| Rfx2 |
G |
T |
17: 57,112,404 (GRCm39) |
P43Q |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Sh3tc1 |
T |
C |
5: 35,864,516 (GRCm39) |
K495R |
probably damaging |
Het |
| Slit1 |
A |
T |
19: 41,590,743 (GRCm39) |
C1310S |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stk35 |
T |
C |
2: 129,643,721 (GRCm39) |
V235A |
probably damaging |
Het |
| Tgfb3 |
A |
G |
12: 86,124,613 (GRCm39) |
F32L |
probably benign |
Het |
| Tmem35a |
T |
C |
X: 133,205,446 (GRCm39) |
F121L |
probably damaging |
Het |
| Trp53bp2 |
T |
A |
1: 182,281,289 (GRCm39) |
D963E |
probably benign |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,860 (GRCm39) |
S110P |
probably damaging |
Het |
| Vpreb1b |
T |
C |
16: 17,798,558 (GRCm39) |
|
probably benign |
Het |
| Xrn2 |
A |
T |
2: 146,891,945 (GRCm39) |
T721S |
probably benign |
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 |
|
IGL02498:Syde2
|
APN |
3 |
145,704,444 (GRCm39) |
missense |
probably benign |
0.08 |
|
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