Incidental Mutation 'R5101:Syde2'
ID |
392346 |
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 |
042852-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.087)
|
Stock # |
R5101 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 145721393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 820
(S820P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039517]
[ENSMUST00000200546]
[ENSMUST00000212479]
|
AlphaFold |
E9PUP1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039517
AA Change: S1087P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000041897 Gene: ENSMUSG00000036863 AA Change: S1087P
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 damaging
Transcript: ENSMUST00000200546
AA Change: S819P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142954 Gene: ENSMUSG00000036863 AA Change: S819P
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 damaging
Transcript: ENSMUST00000212479
AA Change: S820P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.5471 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
100% (57/57) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
T |
C |
12: 21,423,406 (GRCm39) |
T10A |
possibly damaging |
Het |
Adgrg3 |
T |
C |
8: 95,763,563 (GRCm39) |
F288S |
probably benign |
Het |
Ago2 |
A |
G |
15: 72,991,339 (GRCm39) |
V533A |
probably damaging |
Het |
Akap9 |
T |
G |
5: 4,051,748 (GRCm39) |
V1505G |
probably damaging |
Het |
Apob |
T |
C |
12: 8,061,934 (GRCm39) |
I3439T |
probably benign |
Het |
C1qtnf7 |
T |
A |
5: 43,773,314 (GRCm39) |
Y204* |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,265,549 (GRCm39) |
E1461G |
probably damaging |
Het |
Cdh3 |
C |
T |
8: 107,268,024 (GRCm39) |
A353V |
possibly damaging |
Het |
Clec4d |
A |
G |
6: 123,244,071 (GRCm39) |
Y60C |
probably damaging |
Het |
Cmya5 |
T |
A |
13: 93,228,111 (GRCm39) |
T2326S |
possibly damaging |
Het |
Cnot1 |
G |
A |
8: 96,486,815 (GRCm39) |
L631F |
possibly damaging |
Het |
Cntnap5a |
C |
T |
1: 116,370,026 (GRCm39) |
T881I |
probably benign |
Het |
Col6a1 |
T |
A |
10: 76,545,740 (GRCm39) |
T911S |
unknown |
Het |
Ctsw |
A |
G |
19: 5,515,703 (GRCm39) |
V287A |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 44,017,622 (GRCm39) |
E2G |
unknown |
Het |
Cytip |
A |
T |
2: 58,037,911 (GRCm39) |
I151N |
probably damaging |
Het |
Dnah10 |
A |
G |
5: 124,909,577 (GRCm39) |
T4399A |
possibly damaging |
Het |
Dock3 |
A |
T |
9: 106,846,980 (GRCm39) |
I883N |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,395,608 (GRCm39) |
*530W |
probably null |
Het |
Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
Gp1ba |
G |
A |
11: 70,532,225 (GRCm39) |
V664M |
probably benign |
Het |
Gpd2 |
T |
A |
2: 57,245,913 (GRCm39) |
I481N |
probably damaging |
Het |
Gvin-ps5 |
T |
C |
7: 105,929,096 (GRCm39) |
|
noncoding transcript |
Het |
Ildr2 |
A |
G |
1: 166,135,331 (GRCm39) |
D342G |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,391 (GRCm39) |
I327T |
probably benign |
Het |
Lats1 |
T |
A |
10: 7,588,348 (GRCm39) |
C988* |
probably null |
Het |
Lpin2 |
G |
A |
17: 71,550,965 (GRCm39) |
W708* |
probably null |
Het |
Mast4 |
T |
C |
13: 102,872,864 (GRCm39) |
D2168G |
probably benign |
Het |
Myo6 |
G |
T |
9: 80,177,321 (GRCm39) |
E606* |
probably null |
Het |
Nek7 |
A |
G |
1: 138,443,431 (GRCm39) |
V174A |
probably benign |
Het |
Nid1 |
T |
A |
13: 13,658,339 (GRCm39) |
C695S |
probably damaging |
Het |
Nme8 |
A |
G |
13: 19,875,017 (GRCm39) |
|
probably null |
Het |
Nr2c2 |
T |
C |
6: 92,131,497 (GRCm39) |
|
probably null |
Het |
Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
Or2ag18 |
A |
T |
7: 106,405,420 (GRCm39) |
I83K |
possibly damaging |
Het |
Or4x11 |
A |
G |
2: 89,867,391 (GRCm39) |
M43V |
probably benign |
Het |
Or51ab3 |
G |
A |
7: 103,201,150 (GRCm39) |
E53K |
probably damaging |
Het |
Or9g19 |
A |
G |
2: 85,600,268 (GRCm39) |
N41S |
probably damaging |
Het |
Pms2 |
A |
G |
5: 143,865,006 (GRCm39) |
D696G |
probably damaging |
Het |
Psapl1 |
T |
A |
5: 36,361,494 (GRCm39) |
C29S |
probably damaging |
Het |
Scn3a |
A |
T |
2: 65,291,850 (GRCm39) |
V1632D |
probably damaging |
Het |
Slc22a1 |
C |
T |
17: 12,886,129 (GRCm39) |
G168D |
probably damaging |
Het |
Smad4 |
A |
G |
18: 73,808,931 (GRCm39) |
V112A |
probably benign |
Het |
Smc4 |
T |
C |
3: 68,935,845 (GRCm39) |
V796A |
probably benign |
Het |
Smco4 |
A |
G |
9: 15,455,968 (GRCm39) |
E18G |
unknown |
Het |
Spata31e2 |
T |
C |
1: 26,722,417 (GRCm39) |
E921G |
possibly damaging |
Het |
Sugp2 |
A |
G |
8: 70,713,139 (GRCm39) |
E1035G |
probably damaging |
Het |
Syn2 |
T |
C |
6: 115,240,860 (GRCm39) |
L410P |
probably damaging |
Het |
Tmem131l |
T |
C |
3: 83,844,811 (GRCm39) |
N466S |
probably damaging |
Het |
Uba1y |
T |
G |
Y: 821,447 (GRCm39) |
|
probably null |
Het |
Unc79 |
T |
C |
12: 103,078,769 (GRCm39) |
S1645P |
probably damaging |
Het |
Vmn2r17 |
A |
T |
5: 109,576,217 (GRCm39) |
S363C |
probably damaging |
Het |
Vmn2r78 |
T |
C |
7: 86,571,563 (GRCm39) |
Y458H |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCTTCACATTGCCACAGCTG -3'
(R):5'- AAGAAATGTACTCCAGAGAATCCTC -3'
Sequencing Primer
(F):5'- ACATTGCCACAGCTGCTGTTG -3'
(R):5'- GAGAATCCTCTACCTGGCCAGAG -3'
|
Posted On |
2016-06-15 |