Incidental Mutation 'R7903:Syde2'
| ID |
610073 |
| 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 |
045955-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R7903 (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 A
at 145704543 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 498
(D498E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041897
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039517]
[ENSMUST00000200546]
[ENSMUST00000212479]
|
| AlphaFold |
E9PUP1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039517
AA Change: D498E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000041897
Gene: ENSMUSG00000036863
AA Change: D498E
| 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: D230E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142954
Gene: ENSMUSG00000036863
AA Change: D230E
| 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: D231E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Meta Mutation Damage Score |
0.1565 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
T |
C |
18: 24,608,783 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
T |
7: 119,195,215 (GRCm39) |
T596S |
probably benign |
Het |
| Aggf1 |
T |
C |
13: 95,492,966 (GRCm39) |
K548E |
probably damaging |
Het |
| Anapc15 |
T |
G |
7: 101,547,193 (GRCm39) |
V23G |
probably benign |
Het |
| Atp10a |
T |
C |
7: 58,308,570 (GRCm39) |
L123P |
probably damaging |
Het |
| Brf2 |
G |
A |
8: 27,616,121 (GRCm39) |
T88M |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Ccdc14 |
A |
T |
16: 34,525,280 (GRCm39) |
H191L |
probably damaging |
Het |
| Cdc42bpg |
T |
A |
19: 6,363,499 (GRCm39) |
V453E |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,458,843 (GRCm39) |
K1110E |
probably benign |
Het |
| Cubn |
T |
C |
2: 13,473,680 (GRCm39) |
D421G |
probably damaging |
Het |
| D130043K22Rik |
T |
G |
13: 25,059,995 (GRCm39) |
V622G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,641,351 (GRCm39) |
S1190P |
probably damaging |
Het |
| Eif4a3l2 |
A |
G |
6: 116,528,212 (GRCm39) |
T30A |
probably benign |
Het |
| Elavl1 |
T |
C |
8: 4,351,756 (GRCm39) |
K120R |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,581,332 (GRCm39) |
|
probably null |
Het |
| Fubp1 |
G |
A |
3: 151,920,498 (GRCm39) |
W79* |
probably null |
Het |
| Gsto2 |
T |
A |
19: 47,873,096 (GRCm39) |
I157N |
possibly damaging |
Het |
| Gucy2d |
A |
G |
7: 98,108,272 (GRCm39) |
D735G |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,967 (GRCm39) |
I166F |
probably damaging |
Het |
| Hars2 |
C |
A |
18: 36,919,245 (GRCm39) |
R128S |
probably damaging |
Het |
| Igf1r |
T |
C |
7: 67,834,500 (GRCm39) |
F496S |
probably damaging |
Het |
| Inf2 |
T |
C |
12: 112,578,988 (GRCm39) |
V1256A |
unknown |
Het |
| Kif19b |
T |
C |
5: 140,461,767 (GRCm39) |
V523A |
probably damaging |
Het |
| Krt34 |
A |
T |
11: 99,932,321 (GRCm39) |
M1K |
probably null |
Het |
| Lamtor2 |
T |
C |
3: 88,459,817 (GRCm39) |
N26D |
possibly damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,382 (GRCm39) |
T799A |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,349,162 (GRCm39) |
D52G |
probably benign |
Het |
| Mcm10 |
T |
C |
2: 5,000,613 (GRCm39) |
T693A |
probably benign |
Het |
| Mgarp |
G |
T |
3: 51,304,119 (GRCm39) |
A10E |
|
Het |
| Mns1 |
A |
T |
9: 72,360,093 (GRCm39) |
E414D |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,426,265 (GRCm39) |
S341G |
probably null |
Het |
| Nags |
A |
T |
11: 102,037,503 (GRCm39) |
D198V |
possibly damaging |
Het |
| Nedd4l |
C |
T |
18: 65,319,438 (GRCm39) |
P464S |
probably damaging |
Het |
| Nicol1 |
T |
A |
5: 34,140,910 (GRCm39) |
|
probably null |
Het |
| Nsfl1c |
T |
C |
2: 151,338,522 (GRCm39) |
Y42H |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,942 (GRCm39) |
M67V |
probably benign |
Het |
| Or2b28 |
T |
A |
13: 21,532,046 (GRCm39) |
I316K |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,549,847 (GRCm39) |
L715Q |
probably damaging |
Het |
| Peg3 |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC |
7: 6,712,167 (GRCm39) |
|
probably benign |
Het |
| Pfkfb4 |
A |
T |
9: 108,828,019 (GRCm39) |
N64Y |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,744 (GRCm39) |
F673L |
probably damaging |
Het |
| Pla2g7 |
A |
G |
17: 43,911,512 (GRCm39) |
|
probably null |
Het |
| Pml |
T |
C |
9: 58,156,867 (GRCm39) |
E36G |
probably benign |
Het |
| Proser1 |
C |
A |
3: 53,386,503 (GRCm39) |
S795* |
probably null |
Het |
| Ptprs |
T |
A |
17: 56,731,960 (GRCm39) |
K1016* |
probably null |
Het |
| Rbfox1 |
T |
A |
16: 7,042,375 (GRCm39) |
S76R |
probably benign |
Het |
| Reck |
A |
T |
4: 43,927,166 (GRCm39) |
I486F |
possibly damaging |
Het |
| Rnf103 |
A |
T |
6: 71,486,138 (GRCm39) |
K256N |
probably damaging |
Het |
| Setd2 |
A |
T |
9: 110,446,905 (GRCm39) |
N713I |
|
Het |
| Slc38a4 |
C |
T |
15: 96,906,809 (GRCm39) |
G310S |
probably benign |
Het |
| Slc7a4 |
C |
T |
16: 17,393,145 (GRCm39) |
R218H |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,611,366 (GRCm39) |
H344R |
probably damaging |
Het |
| Smarcc1 |
G |
A |
9: 110,033,334 (GRCm39) |
E810K |
probably benign |
Het |
| Sord |
T |
A |
2: 122,093,706 (GRCm39) |
M275K |
probably benign |
Het |
| Spire2 |
C |
A |
8: 124,095,489 (GRCm39) |
P631T |
probably benign |
Het |
| Sult6b1 |
T |
C |
17: 79,198,279 (GRCm39) |
K207R |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,018,410 (GRCm39) |
D1276E |
possibly damaging |
Het |
| Tm7sf2 |
A |
G |
19: 6,121,365 (GRCm39) |
F219S |
probably damaging |
Het |
| Tmcc2 |
C |
T |
1: 132,288,199 (GRCm39) |
G496D |
probably benign |
Het |
| Tmtc4 |
G |
A |
14: 123,165,060 (GRCm39) |
H600Y |
probably benign |
Het |
| Vmn1r224 |
A |
T |
17: 20,640,309 (GRCm39) |
L295F |
probably benign |
Het |
| Vmn1r91 |
T |
C |
7: 19,835,135 (GRCm39) |
I18T |
possibly damaging |
Het |
| Vwa7 |
G |
A |
17: 35,236,763 (GRCm39) |
R110H |
probably damaging |
Het |
| Wbp2nl |
C |
T |
15: 82,190,332 (GRCm39) |
Q87* |
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 |
|
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'- GCAATTGGCTGTATCAGAGC -3'
(R):5'- TTTGACTGTGAGGTCTGCAC -3'
Sequencing Primer
(F):5'- AATTGGCTGTATCAGAGCACCCTG -3'
(R):5'- TGTGAGGTCTGCACGTCCC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation