Incidental Mutation 'R6025:Syde2'
ID |
482086 |
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 |
044197-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.105)
|
Stock # |
R6025 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
145693625-145727475 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 145712896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148542
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039517]
[ENSMUST00000200546]
[ENSMUST00000212479]
|
AlphaFold |
E9PUP1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000039517
|
SMART Domains |
Protein: ENSMUSP00000041897 Gene: ENSMUSG00000036863
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 null
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 null
Transcript: ENSMUST00000212479
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
GC |
G |
11: 59,101,139 (GRCm39) |
|
probably null |
Het |
Acvr1b |
C |
A |
15: 101,092,856 (GRCm39) |
D166E |
probably benign |
Het |
Adgra2 |
T |
C |
8: 27,604,491 (GRCm39) |
I522T |
probably damaging |
Het |
Adgre4 |
C |
T |
17: 56,099,013 (GRCm39) |
S173L |
probably benign |
Het |
Akap9 |
A |
T |
5: 4,082,801 (GRCm39) |
Q1975L |
probably damaging |
Het |
Ap3d1 |
T |
A |
10: 80,546,298 (GRCm39) |
M965L |
probably benign |
Het |
Brca2 |
CATA |
CA |
5: 150,465,040 (GRCm39) |
|
probably null |
Het |
Chd6 |
T |
C |
2: 160,807,502 (GRCm39) |
N1904S |
probably benign |
Het |
Clstn3 |
A |
T |
6: 124,408,623 (GRCm39) |
S896R |
possibly damaging |
Het |
Col6a3 |
T |
A |
1: 90,755,824 (GRCm39) |
D155V |
probably damaging |
Het |
Dct |
T |
C |
14: 118,273,876 (GRCm39) |
T344A |
possibly damaging |
Het |
Dctn1 |
T |
A |
6: 83,170,673 (GRCm39) |
|
probably null |
Het |
Dgkz |
T |
C |
2: 91,776,255 (GRCm39) |
T3A |
possibly damaging |
Het |
Duoxa2 |
T |
C |
2: 122,132,332 (GRCm39) |
S249P |
possibly damaging |
Het |
Ehbp1 |
A |
T |
11: 22,189,156 (GRCm39) |
V82E |
probably damaging |
Het |
Fcho1 |
A |
T |
8: 72,165,217 (GRCm39) |
|
probably null |
Het |
Garin5b |
T |
A |
7: 4,761,143 (GRCm39) |
D523V |
probably benign |
Het |
Ifi213 |
T |
A |
1: 173,422,800 (GRCm39) |
N22Y |
probably damaging |
Het |
Kcnq1 |
T |
A |
7: 142,660,170 (GRCm39) |
|
probably benign |
Het |
Kif7 |
T |
A |
7: 79,354,388 (GRCm39) |
Q799L |
probably benign |
Het |
Lmnb1 |
T |
A |
18: 56,862,456 (GRCm39) |
L206* |
probably null |
Het |
Lonp2 |
G |
T |
8: 87,440,001 (GRCm39) |
G247V |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,206,306 (GRCm39) |
Y121C |
probably damaging |
Het |
Mboat1 |
C |
A |
13: 30,408,509 (GRCm39) |
T224K |
probably benign |
Het |
Mcm9 |
T |
C |
10: 53,492,073 (GRCm39) |
E416G |
possibly damaging |
Het |
Mtnr1b |
A |
T |
9: 15,774,093 (GRCm39) |
I322N |
probably damaging |
Het |
Nanog |
G |
A |
6: 122,690,350 (GRCm39) |
G227R |
possibly damaging |
Het |
Nbn |
T |
C |
4: 15,981,347 (GRCm39) |
S480P |
probably damaging |
Het |
Nek10 |
C |
A |
14: 14,865,633 (GRCm38) |
L638M |
probably benign |
Het |
Nelfcd |
T |
C |
2: 174,268,611 (GRCm39) |
V538A |
probably damaging |
Het |
Or1e33 |
A |
T |
11: 73,738,745 (GRCm39) |
S69T |
probably benign |
Het |
Or2b4 |
T |
G |
17: 38,116,312 (GRCm39) |
I92S |
probably damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,416 (GRCm39) |
I63V |
probably benign |
Het |
Or5b97 |
T |
A |
19: 12,879,034 (GRCm39) |
T37S |
probably benign |
Het |
Phf24 |
G |
A |
4: 42,938,780 (GRCm39) |
|
probably null |
Het |
Pigz |
T |
C |
16: 31,764,528 (GRCm39) |
S529P |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,383,144 (GRCm39) |
E321G |
probably damaging |
Het |
Plcb3 |
G |
A |
19: 6,933,547 (GRCm39) |
T926I |
probably benign |
Het |
Pm20d2 |
G |
A |
4: 33,181,833 (GRCm39) |
P257S |
probably damaging |
Het |
Pon2 |
A |
G |
6: 5,289,057 (GRCm39) |
V34A |
probably benign |
Het |
Prkar2b |
A |
G |
12: 32,110,855 (GRCm39) |
F76S |
possibly damaging |
Het |
Prpf31 |
G |
A |
7: 3,642,668 (GRCm39) |
E414K |
probably benign |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Setbp1 |
A |
T |
18: 78,902,455 (GRCm39) |
L404Q |
probably damaging |
Het |
Slc26a11 |
C |
T |
11: 119,265,654 (GRCm39) |
A389V |
probably damaging |
Het |
Slc2a1 |
A |
T |
4: 118,993,539 (GRCm39) |
T459S |
possibly damaging |
Het |
Spi1 |
T |
C |
2: 90,944,685 (GRCm39) |
L135P |
probably benign |
Het |
Sspo |
T |
C |
6: 48,463,720 (GRCm39) |
L3844P |
possibly damaging |
Het |
Stxbp5 |
T |
A |
10: 9,675,772 (GRCm39) |
T616S |
probably benign |
Het |
Synm |
G |
T |
7: 67,384,686 (GRCm39) |
A550D |
possibly damaging |
Het |
Tanc2 |
T |
C |
11: 105,787,373 (GRCm39) |
V891A |
possibly damaging |
Het |
Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
Tlx1 |
A |
T |
19: 45,144,413 (GRCm39) |
Q45L |
probably damaging |
Het |
Tmem104 |
C |
A |
11: 115,096,349 (GRCm39) |
Y191* |
probably null |
Het |
Tmem17 |
A |
C |
11: 22,468,659 (GRCm39) |
*199C |
probably null |
Het |
Tns3 |
A |
T |
11: 8,442,578 (GRCm39) |
M595K |
possibly damaging |
Het |
Tyk2 |
A |
G |
9: 21,027,256 (GRCm39) |
V538A |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,734,727 (GRCm39) |
D3250G |
possibly damaging |
Het |
Usp4 |
A |
G |
9: 108,237,322 (GRCm39) |
H130R |
possibly damaging |
Het |
Zfhx2 |
T |
C |
14: 55,302,665 (GRCm39) |
Q1773R |
probably benign |
Het |
Zfp790 |
A |
G |
7: 29,528,970 (GRCm39) |
K552E |
possibly damaging |
Het |
Zswim5 |
G |
A |
4: 116,808,106 (GRCm39) |
R230Q |
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 |
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'- CATTTGAGGTGTTAGGATGACAGC -3'
(R):5'- GCTGTTGGCTGCTTAGTAAC -3'
Sequencing Primer
(F):5'- CAGGTTCATGGGATTTATATCATGCC -3'
(R):5'- GGCTGCTTAGTAACAGATCTGCATC -3'
|
Posted On |
2017-06-27 |