Incidental Mutation 'R7918:Syde2'
| ID |
648171 |
| 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 |
045966-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7918 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 145708170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039517]
[ENSMUST00000039517]
[ENSMUST00000200546]
[ENSMUST00000200546]
[ENSMUST00000212479]
[ENSMUST00000212479]
|
| AlphaFold |
E9PUP1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000039517
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
| 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 |
probably null
Transcript: ENSMUST00000039517
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
| 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 |
probably null
Transcript: ENSMUST00000200546
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
| 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 null
Transcript: ENSMUST00000200546
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
| 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 null
Transcript: ENSMUST00000212479
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212479
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330070K13Rik |
G |
A |
5: 130,413,269 (GRCm39) |
T30I |
unknown |
Het |
| Adam21 |
A |
G |
12: 81,607,378 (GRCm39) |
V128A |
possibly damaging |
Het |
| Adam26a |
T |
C |
8: 44,022,566 (GRCm39) |
Y308C |
probably damaging |
Het |
| Adam26b |
A |
G |
8: 43,974,138 (GRCm39) |
V288A |
probably benign |
Het |
| Ankrd29 |
A |
C |
18: 12,428,979 (GRCm39) |
L30R |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
| Cacna1g |
A |
G |
11: 94,334,856 (GRCm39) |
I817T |
probably benign |
Het |
| Catsperd |
T |
C |
17: 56,938,564 (GRCm39) |
F31L |
probably benign |
Het |
| Cep164 |
A |
G |
9: 45,690,986 (GRCm39) |
|
probably null |
Het |
| Clca4b |
T |
C |
3: 144,619,033 (GRCm39) |
Y702C |
probably damaging |
Het |
| Clstn1 |
A |
G |
4: 149,728,508 (GRCm39) |
I655V |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,747,147 (GRCm39) |
E1486G |
probably damaging |
Het |
| Epha8 |
A |
G |
4: 136,661,877 (GRCm39) |
F573L |
probably benign |
Het |
| Exoc1 |
A |
G |
5: 76,691,840 (GRCm39) |
N323S |
probably benign |
Het |
| Exoc6b |
C |
T |
6: 85,046,332 (GRCm39) |
R19Q |
probably damaging |
Het |
| Gcsam |
T |
C |
16: 45,440,502 (GRCm39) |
*182R |
probably null |
Het |
| Ighv9-2 |
T |
C |
12: 114,072,911 (GRCm39) |
I21V |
probably benign |
Het |
| Ints2 |
G |
A |
11: 86,113,043 (GRCm39) |
T825M |
probably damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lad1 |
A |
G |
1: 135,757,454 (GRCm39) |
T398A |
probably benign |
Het |
| Lrfn2 |
T |
C |
17: 49,378,212 (GRCm39) |
V431A |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,292,732 (GRCm39) |
I79M |
possibly damaging |
Het |
| Nup107 |
A |
G |
10: 117,617,905 (GRCm39) |
V171A |
probably benign |
Het |
| Or1e1c |
T |
C |
11: 73,265,923 (GRCm39) |
F119S |
probably damaging |
Het |
| Or8b101 |
T |
A |
9: 38,020,103 (GRCm39) |
Y35* |
probably null |
Het |
| Or8g37 |
C |
A |
9: 39,731,406 (GRCm39) |
T157K |
probably damaging |
Het |
| Pde4dip |
T |
A |
3: 97,622,539 (GRCm39) |
K1557* |
probably null |
Het |
| Plat |
C |
T |
8: 23,263,655 (GRCm39) |
P185S |
probably damaging |
Het |
| Plcg1 |
T |
G |
2: 160,595,585 (GRCm39) |
V511G |
probably damaging |
Het |
| Plxnb3 |
C |
T |
X: 72,811,251 (GRCm39) |
A1258V |
probably benign |
Het |
| Rnf223 |
T |
C |
4: 156,217,240 (GRCm39) |
V205A |
probably benign |
Het |
| Slc13a1 |
G |
C |
6: 24,118,065 (GRCm39) |
T224R |
probably benign |
Het |
| Slc39a10 |
T |
A |
1: 46,874,912 (GRCm39) |
H130L |
possibly damaging |
Het |
| Sucnr1 |
T |
A |
3: 59,993,790 (GRCm39) |
I106N |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,309,078 (GRCm39) |
I644V |
possibly damaging |
Het |
| Tbc1d8 |
A |
C |
1: 39,441,809 (GRCm39) |
F261C |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,336,116 (GRCm39) |
Y1066C |
probably damaging |
Het |
| Trip12 |
A |
C |
1: 84,722,784 (GRCm39) |
I1322S |
probably damaging |
Het |
| Tsnaxip1 |
A |
G |
8: 106,571,167 (GRCm39) |
I676V |
probably benign |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,236 (GRCm39) |
Y226* |
probably null |
Het |
| Vmn2r63 |
G |
C |
7: 42,552,955 (GRCm39) |
A767G |
probably damaging |
Het |
| Wdr5b |
A |
G |
16: 35,862,192 (GRCm39) |
T104A |
probably damaging |
Het |
| Zbed5 |
T |
C |
5: 129,930,504 (GRCm39) |
V151A |
possibly damaging |
Het |
| Zc3h7b |
T |
C |
15: 81,653,189 (GRCm39) |
F31S |
probably damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,279 (GRCm39) |
C340S |
possibly damaging |
Het |
| Zmym4 |
T |
A |
4: 126,804,797 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACGTCAAGGTGACCCTGATG -3'
(R):5'- TGTAGCATGCTCTCAAATCACAG -3'
Sequencing Primer
(F):5'- TGGAACAGTGGGAGAATTCTCTGC -3'
(R):5'- GGAAACACACTCCAAAATAATGATGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation