Incidental Mutation 'R9052:Synj1'
ID |
688480 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synj1
|
Ensembl Gene |
ENSMUSG00000022973 |
Gene Name |
synaptojanin 1 |
Synonyms |
A930006D20Rik |
MMRRC Submission |
068878-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9052 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90735728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 1408
(S1408R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023694]
[ENSMUST00000121759]
[ENSMUST00000125519]
[ENSMUST00000129743]
[ENSMUST00000142340]
[ENSMUST00000149833]
[ENSMUST00000170853]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023694
|
SMART Domains |
Protein: ENSMUSP00000023694 Gene: ENSMUSG00000022972
Domain | Start | End | E-Value | Type |
Pfam:DUF2870
|
189 |
285 |
4.7e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118390
|
SMART Domains |
Protein: ENSMUSP00000113518 Gene: ENSMUSG00000022973
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
Pfam:Syja_N
|
75 |
356 |
3.1e-71 |
PFAM |
IPPc
|
546 |
889 |
6.37e-177 |
SMART |
DUF1866
|
882 |
1024 |
1.24e-80 |
SMART |
low complexity region
|
1040 |
1069 |
N/A |
INTRINSIC |
low complexity region
|
1117 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1155 |
1166 |
N/A |
INTRINSIC |
low complexity region
|
1189 |
1208 |
N/A |
INTRINSIC |
low complexity region
|
1289 |
1322 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000121759
AA Change: S1408R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113308 Gene: ENSMUSG00000022973 AA Change: S1408R
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
40 |
N/A |
INTRINSIC |
Pfam:Syja_N
|
100 |
381 |
4.2e-71 |
PFAM |
IPPc
|
571 |
914 |
6.37e-177 |
SMART |
DUF1866
|
907 |
1049 |
1.24e-80 |
SMART |
low complexity region
|
1065 |
1094 |
N/A |
INTRINSIC |
low complexity region
|
1142 |
1176 |
N/A |
INTRINSIC |
low complexity region
|
1180 |
1191 |
N/A |
INTRINSIC |
low complexity region
|
1214 |
1233 |
N/A |
INTRINSIC |
low complexity region
|
1314 |
1343 |
N/A |
INTRINSIC |
Blast:IPPc
|
1344 |
1428 |
1e-17 |
BLAST |
low complexity region
|
1564 |
1596 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125519
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129743
|
SMART Domains |
Protein: ENSMUSP00000123231 Gene: ENSMUSG00000022973
Domain | Start | End | E-Value | Type |
low complexity region
|
69 |
101 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142340
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149833
|
SMART Domains |
Protein: ENSMUSP00000123417 Gene: ENSMUSG00000022972
Domain | Start | End | E-Value | Type |
Pfam:DUF2870
|
171 |
198 |
5.8e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154276
|
SMART Domains |
Protein: ENSMUSP00000122675 Gene: ENSMUSG00000022973
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
32 |
N/A |
INTRINSIC |
low complexity region
|
54 |
73 |
N/A |
INTRINSIC |
low complexity region
|
154 |
187 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170853
|
SMART Domains |
Protein: ENSMUSP00000128997 Gene: ENSMUSG00000022973
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
59 |
346 |
1.7e-85 |
PFAM |
IPPc
|
531 |
874 |
6.37e-177 |
SMART |
DUF1866
|
867 |
1009 |
1.24e-80 |
SMART |
low complexity region
|
1025 |
1054 |
N/A |
INTRINSIC |
low complexity region
|
1102 |
1136 |
N/A |
INTRINSIC |
low complexity region
|
1140 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1174 |
1193 |
N/A |
INTRINSIC |
low complexity region
|
1274 |
1307 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
99% (69/70) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] PHENOTYPE: Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059G10Rik |
T |
C |
9: 122,778,031 (GRCm39) |
E71G |
probably damaging |
Het |
2610021A01Rik |
G |
T |
7: 41,275,449 (GRCm39) |
G384V |
probably benign |
Het |
4931406B18Rik |
T |
A |
7: 43,147,631 (GRCm39) |
R247* |
probably null |
Het |
Abca4 |
G |
T |
3: 121,940,908 (GRCm39) |
V1576F |
possibly damaging |
Het |
Acsl6 |
A |
T |
11: 54,232,615 (GRCm39) |
T489S |
possibly damaging |
Het |
Adcy8 |
C |
T |
15: 64,792,764 (GRCm39) |
R64H |
probably benign |
Het |
Atad2b |
C |
A |
12: 5,015,982 (GRCm39) |
F569L |
probably damaging |
Het |
Atp2c1 |
A |
T |
9: 105,330,032 (GRCm39) |
I266N |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,936,301 (GRCm39) |
|
probably null |
Het |
Coch |
T |
C |
12: 51,640,408 (GRCm39) |
M1T |
probably null |
Het |
Col5a3 |
C |
A |
9: 20,710,733 (GRCm39) |
R537L |
unknown |
Het |
Crb1 |
C |
T |
1: 139,171,161 (GRCm39) |
R743Q |
possibly damaging |
Het |
Crybg2 |
T |
C |
4: 133,803,035 (GRCm39) |
F889L |
probably damaging |
Het |
Cyp4f15 |
C |
T |
17: 32,911,589 (GRCm39) |
T157I |
probably damaging |
Het |
D630045J12Rik |
G |
T |
6: 38,154,544 (GRCm39) |
Q1212K |
probably damaging |
Het |
Dennd1a |
A |
G |
2: 37,911,463 (GRCm39) |
Y175H |
probably damaging |
Het |
Dhcr7 |
C |
A |
7: 143,395,060 (GRCm39) |
T192K |
possibly damaging |
Het |
Dlg1 |
T |
A |
16: 31,656,942 (GRCm39) |
I612N |
probably damaging |
Het |
Dmpk |
G |
A |
7: 18,821,614 (GRCm39) |
V291M |
probably damaging |
Het |
Dnajc6 |
T |
C |
4: 101,496,617 (GRCm39) |
V928A |
probably damaging |
Het |
Dst |
A |
G |
1: 34,206,045 (GRCm39) |
Y859C |
probably damaging |
Het |
Dst |
C |
T |
1: 34,236,411 (GRCm39) |
Q1592* |
probably null |
Het |
Gm10226 |
T |
A |
17: 21,910,959 (GRCm39) |
C65S |
possibly damaging |
Het |
Helz2 |
T |
C |
2: 180,881,968 (GRCm39) |
K275R |
possibly damaging |
Het |
Hltf |
A |
G |
3: 20,152,246 (GRCm39) |
T581A |
probably damaging |
Het |
Ighv1-24 |
C |
T |
12: 114,736,555 (GRCm39) |
C115Y |
probably damaging |
Het |
Il18 |
C |
T |
9: 50,489,090 (GRCm39) |
L40F |
possibly damaging |
Het |
Isg20 |
A |
G |
7: 78,566,390 (GRCm39) |
D113G |
probably damaging |
Het |
Itgb3 |
A |
T |
11: 104,524,413 (GRCm39) |
D183V |
probably damaging |
Het |
Kif12 |
C |
T |
4: 63,090,068 (GRCm39) |
V28M |
probably damaging |
Het |
Manbal |
T |
C |
2: 157,221,107 (GRCm39) |
L28P |
probably damaging |
Het |
Masp1 |
T |
A |
16: 23,339,350 (GRCm39) |
|
probably benign |
Het |
Mfap5 |
A |
G |
6: 122,501,463 (GRCm39) |
T72A |
probably benign |
Het |
Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
Mrps5 |
G |
A |
2: 127,433,876 (GRCm39) |
|
probably benign |
Het |
Ms4a1 |
T |
A |
19: 11,233,954 (GRCm39) |
T101S |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,062,747 (GRCm39) |
M344V |
probably benign |
Het |
Naaladl1 |
T |
G |
19: 6,158,716 (GRCm39) |
F283V |
probably benign |
Het |
Nacc1 |
A |
C |
8: 85,403,377 (GRCm39) |
V166G |
probably damaging |
Het |
Nwd2 |
A |
T |
5: 63,961,773 (GRCm39) |
R452S |
probably damaging |
Het |
Or1n1b |
T |
C |
2: 36,780,105 (GRCm39) |
T252A |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
Or5k16 |
T |
C |
16: 58,736,561 (GRCm39) |
T148A |
probably benign |
Het |
Or6c214 |
C |
G |
10: 129,591,094 (GRCm39) |
C75S |
possibly damaging |
Het |
Pik3cg |
T |
C |
12: 32,245,708 (GRCm39) |
I847V |
possibly damaging |
Het |
Plcz1 |
G |
A |
6: 139,968,905 (GRCm39) |
H178Y |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,508,160 (GRCm39) |
M937K |
probably benign |
Het |
Prr14l |
A |
T |
5: 32,987,478 (GRCm39) |
C672* |
probably null |
Het |
Rasl11a |
C |
A |
5: 146,782,107 (GRCm39) |
D27E |
probably benign |
Het |
Rbm27 |
T |
C |
18: 42,465,893 (GRCm39) |
S860P |
probably damaging |
Het |
Rfxap |
G |
A |
3: 54,715,155 (GRCm39) |
|
probably benign |
Het |
Rhbdf2 |
A |
C |
11: 116,494,758 (GRCm39) |
L306R |
probably benign |
Het |
Rigi |
C |
A |
4: 40,208,459 (GRCm39) |
V826L |
probably benign |
Het |
Rnf123 |
A |
T |
9: 107,936,930 (GRCm39) |
V875E |
probably damaging |
Het |
Sh3bp2 |
A |
G |
5: 34,709,164 (GRCm39) |
|
probably benign |
Het |
Slc7a9 |
A |
G |
7: 35,153,017 (GRCm39) |
K145R |
probably benign |
Het |
Slco5a1 |
A |
T |
1: 13,060,397 (GRCm39) |
V108E |
possibly damaging |
Het |
Stat2 |
A |
G |
10: 128,117,538 (GRCm39) |
E352G |
probably damaging |
Het |
Tent5c |
A |
T |
3: 100,380,618 (GRCm39) |
I46K |
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,585,166 (GRCm39) |
M102K |
probably benign |
Het |
Tnfrsf11a |
G |
A |
1: 105,754,854 (GRCm39) |
A309T |
possibly damaging |
Het |
Ttc23 |
C |
A |
7: 67,342,687 (GRCm39) |
C268* |
probably null |
Het |
Uhrf2 |
T |
C |
19: 30,070,236 (GRCm39) |
F795S |
probably damaging |
Het |
Urgcp |
A |
G |
11: 5,673,153 (GRCm39) |
W41R |
probably damaging |
Het |
Uso1 |
G |
T |
5: 92,328,422 (GRCm39) |
V340F |
probably damaging |
Het |
Vta1 |
A |
C |
10: 14,551,692 (GRCm39) |
I169R |
probably benign |
Het |
Zfp317 |
A |
G |
9: 19,556,568 (GRCm39) |
I59V |
probably benign |
Het |
Zfp799 |
G |
A |
17: 33,039,786 (GRCm39) |
T160I |
probably benign |
Het |
Zfp955a |
G |
T |
17: 33,461,279 (GRCm39) |
H284Q |
possibly damaging |
Het |
|
Other mutations in Synj1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01143:Synj1
|
APN |
16 |
90,748,864 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01468:Synj1
|
APN |
16 |
90,807,060 (GRCm39) |
splice site |
probably benign |
|
IGL02209:Synj1
|
APN |
16 |
90,784,307 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02452:Synj1
|
APN |
16 |
90,758,253 (GRCm39) |
splice site |
probably benign |
|
IGL02619:Synj1
|
APN |
16 |
90,770,933 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02650:Synj1
|
APN |
16 |
90,773,584 (GRCm39) |
missense |
probably benign |
0.03 |
IGL02708:Synj1
|
APN |
16 |
90,788,350 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02863:Synj1
|
APN |
16 |
90,758,322 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL03131:Synj1
|
APN |
16 |
90,785,056 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03295:Synj1
|
APN |
16 |
90,735,318 (GRCm39) |
missense |
probably benign |
0.14 |
IGL03356:Synj1
|
APN |
16 |
90,784,280 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Synj1
|
UTSW |
16 |
90,761,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R0179:Synj1
|
UTSW |
16 |
90,761,519 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0396:Synj1
|
UTSW |
16 |
90,735,528 (GRCm39) |
missense |
probably benign |
|
R0426:Synj1
|
UTSW |
16 |
90,764,242 (GRCm39) |
missense |
probably damaging |
1.00 |
R0486:Synj1
|
UTSW |
16 |
90,735,151 (GRCm39) |
utr 3 prime |
probably benign |
|
R0515:Synj1
|
UTSW |
16 |
90,790,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0535:Synj1
|
UTSW |
16 |
90,744,975 (GRCm39) |
missense |
possibly damaging |
0.80 |
R0697:Synj1
|
UTSW |
16 |
90,757,503 (GRCm39) |
missense |
probably benign |
0.44 |
R0698:Synj1
|
UTSW |
16 |
90,757,503 (GRCm39) |
missense |
probably benign |
0.44 |
R0945:Synj1
|
UTSW |
16 |
90,757,333 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1327:Synj1
|
UTSW |
16 |
90,743,743 (GRCm39) |
missense |
probably benign |
0.05 |
R1562:Synj1
|
UTSW |
16 |
90,784,290 (GRCm39) |
missense |
probably benign |
0.09 |
R1732:Synj1
|
UTSW |
16 |
90,761,118 (GRCm39) |
missense |
probably damaging |
0.99 |
R1752:Synj1
|
UTSW |
16 |
90,735,361 (GRCm39) |
missense |
probably benign |
|
R1785:Synj1
|
UTSW |
16 |
90,761,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R1786:Synj1
|
UTSW |
16 |
90,761,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R2011:Synj1
|
UTSW |
16 |
90,735,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R2012:Synj1
|
UTSW |
16 |
90,735,584 (GRCm39) |
missense |
probably damaging |
1.00 |
R2065:Synj1
|
UTSW |
16 |
90,788,537 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2862:Synj1
|
UTSW |
16 |
90,766,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R3026:Synj1
|
UTSW |
16 |
90,775,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R3151:Synj1
|
UTSW |
16 |
90,757,514 (GRCm39) |
missense |
probably damaging |
0.96 |
R3946:Synj1
|
UTSW |
16 |
90,806,984 (GRCm39) |
missense |
possibly damaging |
0.48 |
R3971:Synj1
|
UTSW |
16 |
90,788,491 (GRCm39) |
missense |
probably damaging |
1.00 |
R4472:Synj1
|
UTSW |
16 |
90,766,069 (GRCm39) |
critical splice donor site |
probably null |
|
R4547:Synj1
|
UTSW |
16 |
90,785,170 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4647:Synj1
|
UTSW |
16 |
90,770,877 (GRCm39) |
missense |
probably damaging |
1.00 |
R4739:Synj1
|
UTSW |
16 |
90,752,307 (GRCm39) |
missense |
probably benign |
0.00 |
R5027:Synj1
|
UTSW |
16 |
90,737,407 (GRCm39) |
splice site |
probably null |
|
R5428:Synj1
|
UTSW |
16 |
90,788,406 (GRCm39) |
missense |
probably damaging |
0.98 |
R5586:Synj1
|
UTSW |
16 |
90,806,865 (GRCm39) |
intron |
probably benign |
|
R5769:Synj1
|
UTSW |
16 |
90,735,141 (GRCm39) |
utr 3 prime |
probably benign |
|
R6005:Synj1
|
UTSW |
16 |
90,766,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R6119:Synj1
|
UTSW |
16 |
90,735,877 (GRCm39) |
missense |
probably benign |
0.30 |
R6313:Synj1
|
UTSW |
16 |
90,743,703 (GRCm39) |
missense |
probably benign |
0.00 |
R6324:Synj1
|
UTSW |
16 |
90,735,518 (GRCm39) |
missense |
probably benign |
0.00 |
R6549:Synj1
|
UTSW |
16 |
90,735,565 (GRCm39) |
missense |
probably benign |
|
R6696:Synj1
|
UTSW |
16 |
90,757,340 (GRCm39) |
missense |
probably damaging |
0.98 |
R6698:Synj1
|
UTSW |
16 |
90,757,340 (GRCm39) |
missense |
probably damaging |
0.98 |
R6861:Synj1
|
UTSW |
16 |
90,760,768 (GRCm39) |
nonsense |
probably null |
|
R7008:Synj1
|
UTSW |
16 |
90,790,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R7153:Synj1
|
UTSW |
16 |
90,744,978 (GRCm39) |
missense |
probably benign |
0.04 |
R7393:Synj1
|
UTSW |
16 |
90,748,887 (GRCm39) |
missense |
probably damaging |
0.99 |
R7510:Synj1
|
UTSW |
16 |
90,735,565 (GRCm39) |
missense |
probably benign |
|
R7560:Synj1
|
UTSW |
16 |
90,737,371 (GRCm39) |
missense |
probably benign |
|
R7724:Synj1
|
UTSW |
16 |
90,758,387 (GRCm39) |
missense |
probably damaging |
0.99 |
R7913:Synj1
|
UTSW |
16 |
90,788,315 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8326:Synj1
|
UTSW |
16 |
90,785,084 (GRCm39) |
missense |
probably benign |
0.12 |
R8707:Synj1
|
UTSW |
16 |
90,752,319 (GRCm39) |
missense |
probably benign |
0.02 |
R8711:Synj1
|
UTSW |
16 |
90,806,971 (GRCm39) |
missense |
probably damaging |
0.98 |
R8767:Synj1
|
UTSW |
16 |
90,758,406 (GRCm39) |
missense |
probably damaging |
1.00 |
R8911:Synj1
|
UTSW |
16 |
90,775,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R9124:Synj1
|
UTSW |
16 |
90,735,513 (GRCm39) |
missense |
probably benign |
0.00 |
R9307:Synj1
|
UTSW |
16 |
90,785,095 (GRCm39) |
missense |
probably damaging |
0.98 |
R9408:Synj1
|
UTSW |
16 |
90,741,740 (GRCm39) |
missense |
probably benign |
0.27 |
R9458:Synj1
|
UTSW |
16 |
90,766,200 (GRCm39) |
missense |
probably benign |
0.05 |
R9567:Synj1
|
UTSW |
16 |
90,790,912 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9651:Synj1
|
UTSW |
16 |
90,757,343 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9651:Synj1
|
UTSW |
16 |
90,735,412 (GRCm39) |
missense |
probably benign |
0.00 |
R9707:Synj1
|
UTSW |
16 |
90,758,300 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9730:Synj1
|
UTSW |
16 |
90,757,552 (GRCm39) |
missense |
probably damaging |
0.98 |
R9732:Synj1
|
UTSW |
16 |
90,761,414 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Synj1
|
UTSW |
16 |
90,784,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCGTGTCATGACTGAGAGGC -3'
(R):5'- GTGTCAAACAAGAGCCAACATTG -3'
Sequencing Primer
(F):5'- GAGCCAAGAAGTTGCCTCTGATTC -3'
(R):5'- GAAGAGTGACCCATTTGAAGATCTC -3'
|
Posted On |
2021-11-19 |