Incidental Mutation 'R7191:Syde2'
| ID |
559583 |
| 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 |
045274-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R7191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 145708113 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 951
(M951T)
|
| 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: M951T
PolyPhen 2
Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: M951T
| 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: M683T
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: M683T
| 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: M684T
PolyPhen 2
Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
T |
A |
16: 21,472,314 (GRCm39) |
I129F |
probably benign |
Het |
| Actmap |
G |
A |
7: 26,900,548 (GRCm39) |
A176T |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,740,041 (GRCm39) |
T1948S |
unknown |
Het |
| Arap1 |
T |
C |
7: 101,034,199 (GRCm39) |
C214R |
probably benign |
Het |
| Ccdc82 |
C |
T |
9: 13,252,097 (GRCm39) |
Q130* |
probably null |
Het |
| Cfh |
A |
C |
1: 140,040,305 (GRCm39) |
V597G |
probably benign |
Het |
| Clp1 |
A |
T |
2: 84,554,490 (GRCm39) |
C226* |
probably null |
Het |
| Cyp39a1 |
G |
A |
17: 44,041,910 (GRCm39) |
W372* |
probably null |
Het |
| Dchs1 |
G |
A |
7: 105,414,646 (GRCm39) |
P799S |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,646,250 (GRCm39) |
N167I |
unknown |
Het |
| Dock10 |
A |
G |
1: 80,518,048 (GRCm39) |
S1310P |
possibly damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,762,771 (GRCm39) |
T758A |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,230,255 (GRCm39) |
H1634R |
probably damaging |
Het |
| Gcg |
C |
G |
2: 62,307,183 (GRCm39) |
G126A |
probably damaging |
Het |
| Get1 |
A |
G |
16: 95,953,145 (GRCm39) |
I79V |
possibly damaging |
Het |
| Gne |
T |
C |
4: 44,040,266 (GRCm39) |
K633E |
probably benign |
Het |
| Gpr4 |
T |
C |
7: 18,957,155 (GRCm39) |
V359A |
probably benign |
Het |
| Gprc5c |
C |
T |
11: 114,759,443 (GRCm39) |
T422M |
possibly damaging |
Het |
| Gria2 |
C |
A |
3: 80,639,392 (GRCm39) |
V207L |
probably benign |
Het |
| Hid1 |
T |
C |
11: 115,239,295 (GRCm39) |
*789W |
probably null |
Het |
| Iigp1c |
A |
T |
18: 60,379,329 (GRCm39) |
D288V |
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,591,257 (GRCm39) |
|
probably null |
Het |
| Kin |
G |
A |
2: 10,096,604 (GRCm39) |
R151Q |
probably benign |
Het |
| Krt16 |
T |
C |
11: 100,137,484 (GRCm39) |
E407G |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,110 (GRCm39) |
D381G |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,679,027 (GRCm39) |
G357S |
possibly damaging |
Het |
| Lypd11 |
C |
T |
7: 24,422,759 (GRCm39) |
V105I |
possibly damaging |
Het |
| Mipol1 |
A |
G |
12: 57,503,852 (GRCm39) |
Q340R |
probably benign |
Het |
| Mpzl3 |
T |
G |
9: 44,966,542 (GRCm39) |
M1R |
probably null |
Het |
| Nrcam |
A |
G |
12: 44,619,027 (GRCm39) |
N852S |
probably benign |
Het |
| Nudcd2 |
C |
T |
11: 40,627,430 (GRCm39) |
Q117* |
probably null |
Het |
| Nup35 |
A |
T |
2: 80,488,723 (GRCm39) |
E320V |
probably damaging |
Het |
| Olfml3 |
T |
C |
3: 103,643,176 (GRCm39) |
K402E |
probably damaging |
Het |
| Or5p56 |
G |
A |
7: 107,589,853 (GRCm39) |
V94M |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,628,943 (GRCm39) |
H668R |
probably benign |
Het |
| Ptprc |
T |
A |
1: 138,028,782 (GRCm39) |
D333V |
probably benign |
Het |
| Rdh16 |
A |
G |
10: 127,649,287 (GRCm39) |
K248E |
probably benign |
Het |
| Samd4b |
C |
A |
7: 28,113,686 (GRCm39) |
G93V |
probably benign |
Het |
| Scgn |
A |
G |
13: 24,165,476 (GRCm39) |
I78T |
probably benign |
Het |
| Slfn14 |
T |
C |
11: 83,167,575 (GRCm39) |
I647V |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,417,093 (GRCm39) |
V157A |
probably benign |
Het |
| Tas2r105 |
T |
C |
6: 131,663,945 (GRCm39) |
N161S |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,443,316 (GRCm39) |
F581L |
probably damaging |
Het |
| Traip |
A |
G |
9: 107,847,216 (GRCm39) |
N352D |
probably benign |
Het |
| Trim29 |
A |
G |
9: 43,222,906 (GRCm39) |
Y245C |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,771,201 (GRCm39) |
I443V |
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,159,660 (GRCm39) |
E595K |
probably benign |
Het |
| Vmn2r51 |
T |
A |
7: 9,834,480 (GRCm39) |
Y186F |
probably null |
Het |
| Vmn2r97 |
A |
G |
17: 19,150,548 (GRCm39) |
Y465C |
probably damaging |
Het |
| Zfp277 |
A |
T |
12: 40,379,561 (GRCm39) |
H324Q |
probably damaging |
Het |
| Zfp987 |
A |
G |
4: 146,058,473 (GRCm39) |
D17G |
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 |
|
R7067:Syde2
|
UTSW |
3 |
145,694,019 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7146:Syde2
|
UTSW |
3 |
145,712,870 (GRCm39) |
nonsense |
probably null |
|
|
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'- AAACGCATCAGCTGGCTGTC -3'
(R):5'- TGTAGCATGCTCTCAAATCACAG -3'
Sequencing Primer
(F):5'- GCTGTCAAGCTGGAGCC -3'
(R):5'- CACTCCAAAATAATGATGGCGGTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation