Incidental Mutation 'R6988:Syde2'
| ID |
543065 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6988 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 145725564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 885
(R885L)
|
| 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: R1152L
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: R1152L
| 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
AA Change: R884L
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: R884L
| 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: R885L
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
G |
4: 137,181,890 (GRCm39) |
L15W |
probably damaging |
Het |
| 4930550C14Rik |
G |
A |
9: 53,323,056 (GRCm39) |
V31I |
possibly damaging |
Het |
| Aadacl4fm4 |
A |
G |
4: 144,412,895 (GRCm39) |
F15S |
probably benign |
Het |
| Adgre1 |
C |
T |
17: 57,715,445 (GRCm39) |
S255F |
probably benign |
Het |
| Aff4 |
T |
G |
11: 53,289,064 (GRCm39) |
S404R |
probably damaging |
Het |
| Akr1c19 |
A |
T |
13: 4,283,757 (GRCm39) |
|
probably benign |
Het |
| Ankrd31 |
T |
A |
13: 97,014,757 (GRCm39) |
I1342K |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,908 (GRCm39) |
D626E |
possibly damaging |
Het |
| Arhgef1 |
G |
A |
7: 24,616,348 (GRCm39) |
V332I |
probably benign |
Het |
| AY358078 |
A |
G |
14: 52,063,644 (GRCm39) |
E430G |
probably damaging |
Het |
| B4gat1 |
T |
A |
19: 5,090,462 (GRCm39) |
I395N |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,467,311 (GRCm39) |
I878N |
probably damaging |
Het |
| Ccdc150 |
C |
T |
1: 54,394,868 (GRCm39) |
Q745* |
probably null |
Het |
| Ccl19 |
A |
T |
4: 42,754,885 (GRCm39) |
I87N |
probably damaging |
Het |
| Ces2g |
G |
C |
8: 105,690,540 (GRCm39) |
G107A |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,902,335 (GRCm39) |
T14A |
unknown |
Het |
| Dnah7a |
T |
C |
1: 53,621,784 (GRCm39) |
I1114V |
possibly damaging |
Het |
| Dnah7c |
T |
C |
1: 46,705,373 (GRCm39) |
I2462T |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,862,249 (GRCm39) |
F208S |
probably damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,363,417 (GRCm39) |
E3993G |
probably damaging |
Het |
| Erv3 |
C |
T |
2: 131,697,886 (GRCm39) |
D158N |
possibly damaging |
Het |
| Exoc6 |
T |
A |
19: 37,597,539 (GRCm39) |
F647I |
probably damaging |
Het |
| Fbrs |
G |
A |
7: 127,078,680 (GRCm39) |
|
probably benign |
Het |
| Fgfr1op2 |
T |
C |
6: 146,491,463 (GRCm39) |
F109L |
probably damaging |
Het |
| Fv1 |
T |
C |
4: 147,953,728 (GRCm39) |
F98S |
possibly damaging |
Het |
| H2-M10.1 |
T |
C |
17: 36,636,484 (GRCm39) |
K107E |
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,256,201 (GRCm39) |
Q1436L |
probably damaging |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,383 (GRCm39) |
Y79C |
probably damaging |
Het |
| Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
| Mnt |
C |
A |
11: 74,733,635 (GRCm39) |
|
probably benign |
Het |
| Mrpl15 |
T |
C |
1: 4,852,883 (GRCm39) |
T112A |
probably benign |
Het |
| Ncdn |
T |
C |
4: 126,640,982 (GRCm39) |
D506G |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,263,806 (GRCm39) |
R81* |
probably null |
Het |
| Or6c2 |
T |
A |
10: 129,362,542 (GRCm39) |
S149T |
probably benign |
Het |
| Or6c217 |
G |
C |
10: 129,738,278 (GRCm39) |
F100L |
probably damaging |
Het |
| Pole |
G |
T |
5: 110,477,449 (GRCm39) |
V1863F |
probably damaging |
Het |
| Pramel5 |
T |
C |
4: 144,000,577 (GRCm39) |
|
probably benign |
Het |
| Rabep1 |
A |
G |
11: 70,825,363 (GRCm39) |
K636E |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,033,754 (GRCm39) |
Y1151F |
probably benign |
Het |
| Rrad |
A |
G |
8: 105,357,268 (GRCm39) |
V93A |
probably damaging |
Het |
| Sesn3 |
A |
T |
9: 14,221,553 (GRCm39) |
R118* |
probably null |
Het |
| Slc27a3 |
T |
C |
3: 90,293,597 (GRCm39) |
N596S |
probably benign |
Het |
| Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,127,733 (GRCm39) |
D1759G |
possibly damaging |
Het |
| Supt20 |
T |
C |
3: 54,606,018 (GRCm39) |
S35P |
probably damaging |
Het |
| Synm |
G |
A |
7: 67,383,406 (GRCm39) |
L1419F |
probably damaging |
Het |
| Tekt2 |
A |
G |
4: 126,217,236 (GRCm39) |
F221L |
probably benign |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Tmem39b |
A |
G |
4: 129,586,941 (GRCm39) |
I90T |
possibly damaging |
Het |
| Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
| Trib2 |
A |
G |
12: 15,865,339 (GRCm39) |
S79P |
probably damaging |
Het |
| Usp32 |
T |
C |
11: 84,900,969 (GRCm39) |
M1084V |
probably benign |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,272 (GRCm39) |
F246L |
probably damaging |
Het |
| Wnt16 |
A |
G |
6: 22,288,510 (GRCm39) |
D2G |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,080,716 (GRCm39) |
E1357G |
probably benign |
Het |
| Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
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 |
|
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 |
|
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'- GTAGCACCTCTGAGTGTTGTAC -3'
(R):5'- TGCTCCAGTCTCCTGCATAG -3'
Sequencing Primer
(F):5'- GTACGCCTAATCCTGATTATATGTGG -3'
(R):5'- CAGTCTCCTGCATAGCGGTTG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation