Incidental Mutation 'R7067:Syde2'
| ID |
548612 |
| 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 |
045163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7067 (G1)
|
| Quality Score |
90.0077 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 145694019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 89
(D89G)
|
| 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: D89G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: D89G
| 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 benign
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 benign
Transcript: ENSMUST00000212479
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,852,921 (GRCm39) |
S72C |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,241,845 (GRCm39) |
D1236G |
probably benign |
Het |
| Abcc6 |
T |
C |
7: 45,668,114 (GRCm39) |
N165D |
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,816,431 (GRCm39) |
|
probably null |
Het |
| Afg2a |
C |
T |
3: 37,485,847 (GRCm39) |
Q190* |
probably null |
Het |
| Anapc4 |
A |
G |
5: 53,019,577 (GRCm39) |
T580A |
probably benign |
Het |
| Apob |
T |
C |
12: 8,059,423 (GRCm39) |
I2602T |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,811,387 (GRCm39) |
|
probably null |
Het |
| Asap3 |
T |
A |
4: 135,968,673 (GRCm39) |
|
probably null |
Het |
| Bend4 |
A |
G |
5: 67,557,611 (GRCm39) |
Y402H |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,873 (GRCm39) |
Y261C |
probably benign |
Het |
| Crtc2 |
A |
G |
3: 90,167,489 (GRCm39) |
N271S |
probably benign |
Het |
| Csf2rb2 |
A |
T |
15: 78,176,694 (GRCm39) |
W233R |
probably damaging |
Het |
| Cyp2u1 |
G |
A |
3: 131,087,202 (GRCm39) |
L460F |
probably damaging |
Het |
| Dnm3 |
A |
G |
1: 162,148,540 (GRCm39) |
L277P |
probably damaging |
Het |
| Efemp1 |
A |
T |
11: 28,817,926 (GRCm39) |
N135I |
probably damaging |
Het |
| Elapor2 |
G |
T |
5: 9,316,295 (GRCm39) |
A9S |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,078 (GRCm39) |
S2466T |
possibly damaging |
Het |
| Gal3st2 |
C |
T |
1: 93,802,447 (GRCm39) |
A276V |
possibly damaging |
Het |
| Gm47985 |
A |
T |
1: 151,059,241 (GRCm39) |
D294V |
unknown |
Het |
| Golga1 |
A |
T |
2: 38,937,731 (GRCm39) |
D104E |
probably benign |
Het |
| Hnrnpr |
C |
T |
4: 136,054,704 (GRCm39) |
A219V |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,399,888 (GRCm39) |
|
probably null |
Het |
| Hspa8 |
T |
C |
9: 40,715,921 (GRCm39) |
I562T |
probably damaging |
Het |
| Htra4 |
C |
T |
8: 25,523,717 (GRCm39) |
V283M |
probably damaging |
Het |
| Il36rn |
C |
T |
2: 24,167,541 (GRCm39) |
R11* |
probably null |
Het |
| Iqcd |
A |
G |
5: 120,743,212 (GRCm39) |
T325A |
probably damaging |
Het |
| Kif23 |
A |
T |
9: 61,832,271 (GRCm39) |
M624K |
probably benign |
Het |
| Krt25 |
G |
T |
11: 99,208,209 (GRCm39) |
Q340K |
probably benign |
Het |
| Lamp3 |
T |
A |
16: 19,518,413 (GRCm39) |
N275Y |
probably damaging |
Het |
| Lpin2 |
A |
C |
17: 71,551,853 (GRCm39) |
K789T |
possibly damaging |
Het |
| Mroh2b |
T |
C |
15: 4,929,986 (GRCm39) |
I24T |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,569,547 (GRCm39) |
I991F |
unknown |
Het |
| Ntf5 |
T |
A |
7: 45,065,048 (GRCm39) |
L60Q |
probably damaging |
Het |
| Nuak1 |
A |
G |
10: 84,276,158 (GRCm39) |
S22P |
possibly damaging |
Het |
| Obox8 |
T |
C |
7: 14,066,979 (GRCm39) |
T22A |
possibly damaging |
Het |
| Or8k21 |
T |
A |
2: 86,144,911 (GRCm39) |
T240S |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,967,074 (GRCm39) |
V405A |
probably benign |
Het |
| Phc2 |
T |
C |
4: 128,640,934 (GRCm39) |
S147P |
probably benign |
Het |
| Pole |
G |
T |
5: 110,482,084 (GRCm39) |
G142V |
probably damaging |
Het |
| Poli |
G |
A |
18: 70,642,488 (GRCm39) |
Q508* |
probably null |
Het |
| Repin1 |
T |
A |
6: 48,574,850 (GRCm39) |
L537* |
probably null |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Samd7 |
G |
C |
3: 30,805,272 (GRCm39) |
K18N |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,071,529 (GRCm39) |
|
probably null |
Het |
| Slit3 |
A |
G |
11: 35,399,057 (GRCm39) |
S141G |
probably benign |
Het |
| Spon2 |
A |
G |
5: 33,371,958 (GRCm39) |
S283P |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,734,266 (GRCm39) |
|
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,184,586 (GRCm39) |
I4099T |
probably damaging |
Het |
| Syt5 |
T |
C |
7: 4,546,075 (GRCm39) |
D105G |
probably benign |
Het |
| Tlx3 |
C |
T |
11: 33,153,204 (GRCm39) |
G86S |
probably damaging |
Het |
| Trim24 |
A |
T |
6: 37,934,775 (GRCm39) |
|
probably null |
Het |
| Umodl1 |
G |
A |
17: 31,201,246 (GRCm39) |
V392I |
probably damaging |
Het |
| Unc80 |
C |
A |
1: 66,685,731 (GRCm39) |
T2285K |
possibly damaging |
Het |
| Vars1 |
G |
A |
17: 35,230,455 (GRCm39) |
V513I |
probably damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,849 (GRCm39) |
Q146L |
probably benign |
Het |
| Vmn2r62 |
T |
C |
7: 42,414,302 (GRCm39) |
I714V |
probably benign |
Het |
| Xbp1 |
T |
A |
11: 5,474,275 (GRCm39) |
S159T |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,851,565 (GRCm39) |
H194Q |
probably damaging |
Het |
| Zc3h4 |
A |
T |
7: 16,162,976 (GRCm39) |
K459* |
probably null |
Het |
| Zdhhc6 |
G |
A |
19: 55,292,871 (GRCm39) |
R292* |
probably null |
Het |
| Zfp383 |
T |
A |
7: 29,608,071 (GRCm39) |
M1K |
probably null |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
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 |
|
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 |
|
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'- TGCCAAGTATGTGAGGAGC -3'
(R):5'- TAATAGGCCTCTCGCAACTGGG -3'
Sequencing Primer
(F):5'- TGGTCATGGAGAGCCGC -3'
(R):5'- TCTCGCAACTGGGTCTGCAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation