Incidental Mutation 'R4797:Synj2'
ID |
369166 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synj2
|
Ensembl Gene |
ENSMUSG00000023805 |
Gene Name |
synaptojanin 2 |
Synonyms |
SJ2 |
MMRRC Submission |
042421-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.120)
|
Stock # |
R4797 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
5991555-6094565 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 6084163 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 283
(E283V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115371
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061091]
[ENSMUST00000080283]
[ENSMUST00000115784]
[ENSMUST00000115785]
[ENSMUST00000115787]
[ENSMUST00000115788]
[ENSMUST00000115789]
[ENSMUST00000126881]
[ENSMUST00000115790]
[ENSMUST00000115791]
[ENSMUST00000154114]
[ENSMUST00000134767]
|
AlphaFold |
Q9D2G5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061091
AA Change: E1090V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000060382 Gene: ENSMUSG00000023805 AA Change: E1090V
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
1 |
263 |
2.5e-72 |
PFAM |
Blast:IPPc
|
394 |
423 |
3e-6 |
BLAST |
IPPc
|
443 |
785 |
3.72e-128 |
SMART |
DUF1866
|
778 |
923 |
1.04e-73 |
SMART |
low complexity region
|
926 |
940 |
N/A |
INTRINSIC |
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
low complexity region
|
1012 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1139 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000080283
AA Change: E1130V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079164 Gene: ENSMUSG00000023805 AA Change: E1130V
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
60 |
348 |
5.5e-78 |
PFAM |
Blast:IPPc
|
479 |
508 |
3e-6 |
BLAST |
IPPc
|
528 |
870 |
3.72e-128 |
SMART |
DUF1866
|
863 |
1008 |
1.04e-73 |
SMART |
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1061 |
N/A |
INTRINSIC |
low complexity region
|
1167 |
1179 |
N/A |
INTRINSIC |
low complexity region
|
1217 |
1234 |
N/A |
INTRINSIC |
low complexity region
|
1263 |
1277 |
N/A |
INTRINSIC |
low complexity region
|
1293 |
1306 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115784
|
SMART Domains |
Protein: ENSMUSP00000111450 Gene: ENSMUSG00000023805
Domain | Start | End | E-Value | Type |
PDB:3LWT|X
|
9 |
171 |
3e-12 |
PDB |
Blast:IPPc
|
163 |
192 |
2e-6 |
BLAST |
IPPc
|
212 |
554 |
3.72e-128 |
SMART |
DUF1866
|
547 |
692 |
1.04e-73 |
SMART |
low complexity region
|
695 |
709 |
N/A |
INTRINSIC |
low complexity region
|
734 |
745 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115785
AA Change: E814V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111451 Gene: ENSMUSG00000023805 AA Change: E814V
Domain | Start | End | E-Value | Type |
PDB:3LWT|X
|
9 |
171 |
4e-12 |
PDB |
Blast:IPPc
|
163 |
192 |
2e-6 |
BLAST |
IPPc
|
212 |
554 |
3.72e-128 |
SMART |
DUF1866
|
547 |
692 |
1.04e-73 |
SMART |
low complexity region
|
695 |
709 |
N/A |
INTRINSIC |
low complexity region
|
734 |
745 |
N/A |
INTRINSIC |
low complexity region
|
851 |
863 |
N/A |
INTRINSIC |
low complexity region
|
901 |
918 |
N/A |
INTRINSIC |
low complexity region
|
947 |
961 |
N/A |
INTRINSIC |
low complexity region
|
977 |
990 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115787
|
SMART Domains |
Protein: ENSMUSP00000111453 Gene: ENSMUSG00000023805
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
1 |
108 |
5.7e-28 |
PFAM |
Blast:IPPc
|
239 |
268 |
2e-6 |
BLAST |
IPPc
|
288 |
630 |
3.72e-128 |
SMART |
DUF1866
|
623 |
768 |
1.04e-73 |
SMART |
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
low complexity region
|
810 |
821 |
N/A |
INTRINSIC |
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
low complexity region
|
977 |
994 |
N/A |
INTRINSIC |
low complexity region
|
1023 |
1037 |
N/A |
INTRINSIC |
low complexity region
|
1053 |
1066 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115788
|
SMART Domains |
Protein: ENSMUSP00000111454 Gene: ENSMUSG00000023805
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
1 |
108 |
4.8e-28 |
PFAM |
Blast:IPPc
|
239 |
268 |
2e-6 |
BLAST |
IPPc
|
288 |
630 |
3.72e-128 |
SMART |
DUF1866
|
623 |
768 |
1.04e-73 |
SMART |
low complexity region
|
771 |
785 |
N/A |
INTRINSIC |
low complexity region
|
810 |
821 |
N/A |
INTRINSIC |
low complexity region
|
927 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000115789
|
SMART Domains |
Protein: ENSMUSP00000111455 Gene: ENSMUSG00000023805
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
1 |
187 |
2.3e-60 |
PFAM |
Blast:IPPc
|
318 |
347 |
2e-6 |
BLAST |
IPPc
|
367 |
709 |
3.72e-128 |
SMART |
DUF1866
|
702 |
847 |
1.04e-73 |
SMART |
low complexity region
|
850 |
864 |
N/A |
INTRINSIC |
low complexity region
|
889 |
900 |
N/A |
INTRINSIC |
low complexity region
|
1006 |
1018 |
N/A |
INTRINSIC |
low complexity region
|
1056 |
1073 |
N/A |
INTRINSIC |
low complexity region
|
1102 |
1116 |
N/A |
INTRINSIC |
low complexity region
|
1132 |
1145 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126881
AA Change: E283V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115371 Gene: ENSMUSG00000023805 AA Change: E283V
Domain | Start | End | E-Value | Type |
DUF1866
|
16 |
161 |
1.04e-73 |
SMART |
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
low complexity region
|
203 |
214 |
N/A |
INTRINSIC |
low complexity region
|
320 |
332 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115790
AA Change: E1090V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111456 Gene: ENSMUSG00000023805 AA Change: E1090V
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
1 |
263 |
3e-72 |
PFAM |
Blast:IPPc
|
394 |
423 |
3e-6 |
BLAST |
IPPc
|
443 |
785 |
3.72e-128 |
SMART |
DUF1866
|
778 |
923 |
1.04e-73 |
SMART |
low complexity region
|
926 |
940 |
N/A |
INTRINSIC |
low complexity region
|
965 |
976 |
N/A |
INTRINSIC |
low complexity region
|
1012 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1127 |
1139 |
N/A |
INTRINSIC |
low complexity region
|
1177 |
1194 |
N/A |
INTRINSIC |
low complexity region
|
1223 |
1237 |
N/A |
INTRINSIC |
low complexity region
|
1253 |
1266 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115791
AA Change: E1175V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000111457 Gene: ENSMUSG00000023805 AA Change: E1175V
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
61 |
343 |
8.5e-67 |
PFAM |
Blast:IPPc
|
479 |
508 |
3e-6 |
BLAST |
IPPc
|
528 |
870 |
3.72e-128 |
SMART |
DUF1866
|
863 |
1008 |
1.04e-73 |
SMART |
low complexity region
|
1011 |
1025 |
N/A |
INTRINSIC |
low complexity region
|
1050 |
1061 |
N/A |
INTRINSIC |
low complexity region
|
1097 |
1112 |
N/A |
INTRINSIC |
low complexity region
|
1212 |
1224 |
N/A |
INTRINSIC |
low complexity region
|
1262 |
1279 |
N/A |
INTRINSIC |
low complexity region
|
1308 |
1322 |
N/A |
INTRINSIC |
low complexity region
|
1338 |
1351 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000154114
AA Change: E608V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000122316 Gene: ENSMUSG00000023805 AA Change: E608V
Domain | Start | End | E-Value | Type |
IPPc
|
6 |
348 |
3.72e-128 |
SMART |
DUF1866
|
341 |
486 |
1.04e-73 |
SMART |
low complexity region
|
489 |
503 |
N/A |
INTRINSIC |
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
low complexity region
|
645 |
657 |
N/A |
INTRINSIC |
low complexity region
|
678 |
694 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134767
|
Meta Mutation Damage Score |
0.1155 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
Validation Efficiency |
96% (69/72) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010] PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed. [provided by MGI curators]
|
Allele List at MGI |
All alleles(5) : Targeted, other(1) Gene trapped(4)
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 110,008,945 (GRCm39) |
T1195A |
probably benign |
Het |
Apobr |
G |
A |
7: 126,186,756 (GRCm39) |
E756K |
probably benign |
Het |
Arpc3 |
A |
G |
5: 122,542,215 (GRCm39) |
E77G |
possibly damaging |
Het |
Atp2b2 |
A |
T |
6: 113,766,847 (GRCm39) |
M464K |
possibly damaging |
Het |
Atxn7l2 |
A |
G |
3: 108,111,866 (GRCm39) |
S379P |
probably damaging |
Het |
Ccdc91 |
A |
T |
6: 147,493,641 (GRCm39) |
E344D |
unknown |
Het |
Cdc42bpg |
G |
A |
19: 6,370,477 (GRCm39) |
R1190Q |
probably damaging |
Het |
Cdh17 |
C |
A |
4: 11,810,390 (GRCm39) |
Q694K |
probably benign |
Het |
Chordc1 |
G |
T |
9: 18,203,672 (GRCm39) |
|
probably benign |
Het |
Copg1 |
A |
G |
6: 87,880,450 (GRCm39) |
|
probably benign |
Het |
Dcbld1 |
T |
C |
10: 52,160,223 (GRCm39) |
V37A |
probably damaging |
Het |
Ddb2 |
A |
G |
2: 91,067,163 (GRCm39) |
|
probably benign |
Het |
Dok5 |
A |
T |
2: 170,672,042 (GRCm39) |
R115* |
probably null |
Het |
Drc7 |
T |
C |
8: 95,800,925 (GRCm39) |
I649T |
probably damaging |
Het |
Efr3a |
A |
G |
15: 65,729,437 (GRCm39) |
T713A |
probably damaging |
Het |
Epg5 |
G |
A |
18: 78,073,614 (GRCm39) |
D2494N |
probably benign |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
Glb1l3 |
T |
C |
9: 26,739,742 (GRCm39) |
D356G |
probably damaging |
Het |
Gm1818 |
A |
T |
12: 48,602,393 (GRCm39) |
|
noncoding transcript |
Het |
Gsta5 |
A |
T |
9: 78,211,679 (GRCm39) |
Y147F |
probably benign |
Het |
Hcrtr2 |
C |
A |
9: 76,161,816 (GRCm39) |
M191I |
probably damaging |
Het |
Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
Hsd3b2 |
A |
T |
3: 98,618,979 (GRCm39) |
L322Q |
probably damaging |
Het |
Hsd3b9 |
T |
A |
3: 98,363,747 (GRCm39) |
R62* |
probably null |
Het |
Htra4 |
T |
C |
8: 25,523,675 (GRCm39) |
T297A |
probably damaging |
Het |
Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
Ints1 |
G |
A |
5: 139,757,631 (GRCm39) |
T324M |
possibly damaging |
Het |
Ints15 |
A |
G |
5: 143,297,504 (GRCm39) |
F181S |
probably benign |
Het |
Ints7 |
T |
C |
1: 191,329,045 (GRCm39) |
V268A |
probably damaging |
Het |
Kctd20 |
G |
A |
17: 29,185,766 (GRCm39) |
V370I |
probably damaging |
Het |
Lama1 |
T |
A |
17: 68,023,770 (GRCm39) |
M55K |
probably benign |
Het |
Larp1 |
C |
A |
11: 57,938,806 (GRCm39) |
S494* |
probably null |
Het |
Ldb3 |
A |
T |
14: 34,277,470 (GRCm39) |
H262Q |
possibly damaging |
Het |
Lepr |
C |
A |
4: 101,637,244 (GRCm39) |
T711K |
possibly damaging |
Het |
Mon2 |
T |
C |
10: 122,852,422 (GRCm39) |
I984V |
probably benign |
Het |
Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
Oasl1 |
A |
G |
5: 115,066,217 (GRCm39) |
M112V |
probably benign |
Het |
Or2d2b |
A |
T |
7: 106,705,234 (GRCm39) |
M278K |
probably benign |
Het |
Or6c214 |
A |
T |
10: 129,590,390 (GRCm39) |
S310T |
probably benign |
Het |
Or7c19 |
G |
T |
8: 85,957,567 (GRCm39) |
A148S |
probably benign |
Het |
P2ry1 |
T |
A |
3: 60,910,881 (GRCm39) |
S7T |
probably benign |
Het |
Pidd1 |
G |
T |
7: 141,022,899 (GRCm39) |
R98S |
possibly damaging |
Het |
Pkd1l1 |
A |
C |
11: 8,911,340 (GRCm39) |
F312L |
unknown |
Het |
Pla2r1 |
A |
T |
2: 60,334,524 (GRCm39) |
M416K |
possibly damaging |
Het |
Pold1 |
T |
C |
7: 44,191,325 (GRCm39) |
E194G |
possibly damaging |
Het |
Poldip2 |
T |
A |
11: 78,404,813 (GRCm39) |
Y77N |
probably damaging |
Het |
Ppp2r3d |
G |
T |
9: 101,089,179 (GRCm39) |
N381K |
probably benign |
Het |
Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsu1 |
A |
G |
2: 13,221,537 (GRCm39) |
|
probably benign |
Het |
Selenoi |
T |
A |
5: 30,457,740 (GRCm39) |
W90R |
probably damaging |
Het |
Spag17 |
T |
A |
3: 99,891,795 (GRCm39) |
D216E |
possibly damaging |
Het |
Spata31 |
C |
A |
13: 65,070,556 (GRCm39) |
Y901* |
probably null |
Het |
Ssrp1 |
T |
A |
2: 84,876,066 (GRCm39) |
Y607* |
probably null |
Het |
Stk10 |
T |
A |
11: 32,548,471 (GRCm39) |
N346K |
probably benign |
Het |
Surf1 |
G |
T |
2: 26,806,358 (GRCm39) |
|
probably benign |
Het |
Tg |
G |
A |
15: 66,629,855 (GRCm39) |
|
probably null |
Het |
Traf1 |
A |
T |
2: 34,846,289 (GRCm39) |
D42E |
probably benign |
Het |
Ttn |
T |
C |
2: 76,571,209 (GRCm39) |
I26561M |
probably damaging |
Het |
Ubp1 |
T |
C |
9: 113,785,070 (GRCm39) |
Y128H |
probably damaging |
Het |
Vmn1r216 |
T |
A |
13: 23,283,506 (GRCm39) |
I63K |
probably benign |
Het |
Vmn1r49 |
T |
A |
6: 90,049,612 (GRCm39) |
H130L |
probably benign |
Het |
Vmn2r90 |
C |
T |
17: 17,932,567 (GRCm39) |
T158I |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,780,725 (GRCm39) |
S885G |
probably damaging |
Het |
|
Other mutations in Synj2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01067:Synj2
|
APN |
17 |
6,088,201 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL01399:Synj2
|
APN |
17 |
6,060,046 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01793:Synj2
|
APN |
17 |
6,088,321 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01793:Synj2
|
APN |
17 |
6,077,500 (GRCm39) |
nonsense |
probably null |
|
IGL02096:Synj2
|
APN |
17 |
6,040,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02115:Synj2
|
APN |
17 |
6,067,865 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02222:Synj2
|
APN |
17 |
6,087,755 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02478:Synj2
|
APN |
17 |
6,088,199 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02634:Synj2
|
APN |
17 |
6,080,035 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02652:Synj2
|
APN |
17 |
6,067,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02681:Synj2
|
APN |
17 |
6,040,611 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02719:Synj2
|
APN |
17 |
6,047,192 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03253:Synj2
|
APN |
17 |
6,053,434 (GRCm39) |
splice site |
probably null |
|
IGL03365:Synj2
|
APN |
17 |
6,069,679 (GRCm39) |
missense |
probably damaging |
1.00 |
I2288:Synj2
|
UTSW |
17 |
6,072,542 (GRCm39) |
splice site |
probably benign |
|
I2289:Synj2
|
UTSW |
17 |
6,072,542 (GRCm39) |
splice site |
probably benign |
|
R0389:Synj2
|
UTSW |
17 |
6,080,058 (GRCm39) |
missense |
probably benign |
0.35 |
R0433:Synj2
|
UTSW |
17 |
6,084,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R0530:Synj2
|
UTSW |
17 |
6,058,380 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0539:Synj2
|
UTSW |
17 |
6,047,163 (GRCm39) |
start codon destroyed |
probably null |
0.63 |
R0556:Synj2
|
UTSW |
17 |
6,088,230 (GRCm39) |
nonsense |
probably null |
|
R1263:Synj2
|
UTSW |
17 |
6,069,634 (GRCm39) |
missense |
probably damaging |
0.99 |
R1443:Synj2
|
UTSW |
17 |
6,073,940 (GRCm39) |
missense |
probably damaging |
0.99 |
R1450:Synj2
|
UTSW |
17 |
6,077,599 (GRCm39) |
splice site |
probably benign |
|
R1532:Synj2
|
UTSW |
17 |
6,084,194 (GRCm39) |
missense |
probably benign |
0.00 |
R1542:Synj2
|
UTSW |
17 |
6,075,292 (GRCm39) |
missense |
probably benign |
0.01 |
R1809:Synj2
|
UTSW |
17 |
6,076,826 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1875:Synj2
|
UTSW |
17 |
6,078,825 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1897:Synj2
|
UTSW |
17 |
6,072,412 (GRCm39) |
nonsense |
probably null |
|
R1928:Synj2
|
UTSW |
17 |
6,040,542 (GRCm39) |
missense |
probably damaging |
0.99 |
R2008:Synj2
|
UTSW |
17 |
6,047,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R2060:Synj2
|
UTSW |
17 |
6,087,755 (GRCm39) |
missense |
probably benign |
0.04 |
R2109:Synj2
|
UTSW |
17 |
6,063,966 (GRCm39) |
missense |
probably benign |
0.00 |
R2332:Synj2
|
UTSW |
17 |
6,074,069 (GRCm39) |
missense |
probably damaging |
0.99 |
R2413:Synj2
|
UTSW |
17 |
6,078,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R3684:Synj2
|
UTSW |
17 |
6,078,718 (GRCm39) |
missense |
probably damaging |
0.97 |
R4111:Synj2
|
UTSW |
17 |
6,058,240 (GRCm39) |
missense |
probably benign |
0.02 |
R4113:Synj2
|
UTSW |
17 |
6,058,240 (GRCm39) |
missense |
probably benign |
0.02 |
R4654:Synj2
|
UTSW |
17 |
6,063,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Synj2
|
UTSW |
17 |
6,060,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R4873:Synj2
|
UTSW |
17 |
6,038,343 (GRCm39) |
intron |
probably benign |
|
R4875:Synj2
|
UTSW |
17 |
6,038,343 (GRCm39) |
intron |
probably benign |
|
R5110:Synj2
|
UTSW |
17 |
6,087,990 (GRCm39) |
missense |
probably benign |
0.06 |
R5205:Synj2
|
UTSW |
17 |
5,991,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R5504:Synj2
|
UTSW |
17 |
6,086,750 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5593:Synj2
|
UTSW |
17 |
6,088,390 (GRCm39) |
makesense |
probably null |
|
R5690:Synj2
|
UTSW |
17 |
6,085,802 (GRCm39) |
missense |
probably benign |
0.00 |
R5870:Synj2
|
UTSW |
17 |
6,088,128 (GRCm39) |
missense |
probably benign |
0.00 |
R6084:Synj2
|
UTSW |
17 |
6,088,373 (GRCm39) |
missense |
probably damaging |
1.00 |
R6084:Synj2
|
UTSW |
17 |
6,067,889 (GRCm39) |
missense |
probably damaging |
0.98 |
R6158:Synj2
|
UTSW |
17 |
6,036,487 (GRCm39) |
missense |
probably benign |
0.00 |
R6159:Synj2
|
UTSW |
17 |
6,036,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R6160:Synj2
|
UTSW |
17 |
6,058,336 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6278:Synj2
|
UTSW |
17 |
6,026,149 (GRCm39) |
missense |
probably damaging |
1.00 |
R6406:Synj2
|
UTSW |
17 |
6,069,846 (GRCm39) |
intron |
probably benign |
|
R6531:Synj2
|
UTSW |
17 |
6,084,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R6729:Synj2
|
UTSW |
17 |
6,036,289 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R6774:Synj2
|
UTSW |
17 |
6,088,290 (GRCm39) |
missense |
possibly damaging |
0.87 |
R6792:Synj2
|
UTSW |
17 |
6,040,565 (GRCm39) |
missense |
probably benign |
0.01 |
R6844:Synj2
|
UTSW |
17 |
6,026,081 (GRCm39) |
missense |
probably damaging |
0.96 |
R6865:Synj2
|
UTSW |
17 |
6,067,844 (GRCm39) |
nonsense |
probably null |
|
R7178:Synj2
|
UTSW |
17 |
6,076,754 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7286:Synj2
|
UTSW |
17 |
6,088,220 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7403:Synj2
|
UTSW |
17 |
6,088,005 (GRCm39) |
missense |
possibly damaging |
0.76 |
R7451:Synj2
|
UTSW |
17 |
6,080,066 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7501:Synj2
|
UTSW |
17 |
6,040,514 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7730:Synj2
|
UTSW |
17 |
6,066,562 (GRCm39) |
missense |
probably benign |
0.33 |
R7799:Synj2
|
UTSW |
17 |
6,088,098 (GRCm39) |
missense |
probably benign |
0.10 |
R7804:Synj2
|
UTSW |
17 |
6,069,809 (GRCm39) |
missense |
unknown |
|
R7841:Synj2
|
UTSW |
17 |
6,094,419 (GRCm39) |
missense |
unknown |
|
R8347:Synj2
|
UTSW |
17 |
6,060,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R8358:Synj2
|
UTSW |
17 |
6,074,080 (GRCm39) |
nonsense |
probably null |
|
R8391:Synj2
|
UTSW |
17 |
5,991,796 (GRCm39) |
missense |
probably damaging |
0.99 |
R8725:Synj2
|
UTSW |
17 |
6,088,015 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8787:Synj2
|
UTSW |
17 |
6,036,514 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8877:Synj2
|
UTSW |
17 |
6,087,941 (GRCm39) |
missense |
probably damaging |
1.00 |
R9091:Synj2
|
UTSW |
17 |
6,067,875 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9121:Synj2
|
UTSW |
17 |
6,040,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R9147:Synj2
|
UTSW |
17 |
6,084,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Synj2
|
UTSW |
17 |
6,084,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R9270:Synj2
|
UTSW |
17 |
6,067,875 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9489:Synj2
|
UTSW |
17 |
6,063,794 (GRCm39) |
missense |
probably benign |
0.00 |
R9605:Synj2
|
UTSW |
17 |
6,063,794 (GRCm39) |
missense |
probably benign |
0.00 |
R9720:Synj2
|
UTSW |
17 |
6,040,584 (GRCm39) |
missense |
probably benign |
|
R9773:Synj2
|
UTSW |
17 |
6,094,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GACAGGCAGGTGATGTGCATAC -3'
(R):5'- TTCCATTGAACATTGCACACAC -3'
Sequencing Primer
(F):5'- ATCCATGTCTCTTCCGGA -3'
(R):5'- TTGAACATTGCACACACACGAAAG -3'
|
Posted On |
2016-02-04 |