Incidental Mutation 'R5842:Syde2'
| ID |
450487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syde2
|
| Ensembl Gene |
ENSMUSG00000036863 |
| Gene Name |
synapse defective 1, Rho GTPase, homolog 2 (C. elegans) |
| Synonyms |
C430017H16Rik |
| MMRRC Submission |
043223-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R5842 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145704775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 576
(I576V)
|
| 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: I576V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: I576V
| 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: I308V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: I308V
| 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: I309V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.1%
- 20x: 90.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk1 |
G |
A |
3: 127,474,618 (GRCm39) |
H462Y |
probably damaging |
Het |
| Atp12a |
T |
C |
14: 56,615,747 (GRCm39) |
I503T |
probably damaging |
Het |
| Bmp6 |
T |
A |
13: 38,530,543 (GRCm39) |
V212D |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,794,883 (GRCm39) |
D1479G |
unknown |
Het |
| Eea1 |
A |
G |
10: 95,853,986 (GRCm39) |
D548G |
probably damaging |
Het |
| Eif5a2 |
T |
C |
3: 28,848,546 (GRCm39) |
V135A |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fstl5 |
T |
G |
3: 76,229,590 (GRCm39) |
N130K |
possibly damaging |
Het |
| Gatm |
T |
C |
2: 122,434,108 (GRCm39) |
I147V |
probably benign |
Het |
| Jakmip1 |
C |
T |
5: 37,264,612 (GRCm39) |
R418C |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,399,202 (GRCm39) |
D363V |
probably damaging |
Het |
| Mov10 |
G |
A |
3: 104,706,695 (GRCm39) |
|
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Nbas |
T |
C |
12: 13,319,267 (GRCm39) |
|
probably null |
Het |
| Nlgn1 |
A |
T |
3: 26,187,892 (GRCm39) |
|
probably null |
Het |
| Nnt |
T |
A |
13: 119,531,283 (GRCm39) |
I155F |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,229,859 (GRCm39) |
Y220C |
probably benign |
Het |
| Pacc1 |
G |
T |
1: 191,078,986 (GRCm39) |
C223F |
probably damaging |
Het |
| Parp9 |
A |
G |
16: 35,763,778 (GRCm39) |
I19V |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,337 (GRCm39) |
S143T |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,281,407 (GRCm39) |
S292R |
possibly damaging |
Het |
| Pmvk |
T |
A |
3: 89,374,927 (GRCm39) |
V108D |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,268,383 (GRCm39) |
T916A |
possibly damaging |
Het |
| Slc23a1 |
T |
A |
18: 35,755,935 (GRCm39) |
I393F |
probably damaging |
Het |
| Slc4a7 |
T |
A |
14: 14,778,866 (GRCm38) |
M925K |
probably damaging |
Het |
| Spag17 |
A |
G |
3: 99,846,566 (GRCm39) |
D30G |
possibly damaging |
Het |
| Tgm2 |
C |
T |
2: 157,985,001 (GRCm39) |
R35H |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,652,887 (GRCm39) |
V745A |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,083,328 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
C |
2: 164,313,289 (GRCm39) |
K129E |
possibly damaging |
Het |
| Ttc6 |
T |
C |
12: 57,783,802 (GRCm39) |
Y1754H |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,415,887 (GRCm39) |
T1069N |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,219,545 (GRCm39) |
S294L |
possibly damaging |
Het |
| Vgll2 |
T |
C |
10: 51,901,388 (GRCm39) |
L106P |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,118,396 (GRCm39) |
V798E |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,541,458 (GRCm39) |
H361Q |
probably damaging |
Het |
| Xrcc3 |
A |
T |
12: 111,770,964 (GRCm39) |
F322I |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,912,851 (GRCm39) |
T26A |
possibly 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 |
|
IGL02498:Syde2
|
APN |
3 |
145,704,444 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
145,707,163 (GRCm39) |
nonsense |
probably null |
|
|
R5087:Syde2
|
UTSW |
3 |
145,712,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCTTGGGCATAGCACAC -3'
(R):5'- CCTGAGACACCTTCACTTTATAAGGAC -3'
Sequencing Primer
(F):5'- CATAGCACACGTCTTGAGTCTTGAG -3'
(R):5'- GGACAGAGTATAAGACACATACAGC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation