Incidental Mutation 'R6119:Synj1'
| ID |
485684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synj1
|
| Ensembl Gene |
ENSMUSG00000022973 |
| Gene Name |
synaptojanin 1 |
| Synonyms |
A930006D20Rik |
| MMRRC Submission |
044429-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6119 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90735877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 1359
(K1359E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023694]
[ENSMUST00000121759]
[ENSMUST00000125519]
[ENSMUST00000129743]
[ENSMUST00000142340]
[ENSMUST00000170853]
[ENSMUST00000149833]
|
| 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: K1359E
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: K1359E
| 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 |
noncoding transcript
Transcript: ENSMUST00000129041
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000131583
|
| 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: ENSMUST00000142340
|
| 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 |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000232326
|
| Meta Mutation Damage Score |
0.0589 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
100% (53/53) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,265,138 (GRCm39) |
R97* |
probably null |
Het |
| 4930544D05Rik |
G |
A |
11: 70,507,317 (GRCm39) |
A121T |
probably damaging |
Het |
| Abtb2 |
A |
T |
2: 103,532,655 (GRCm39) |
E484D |
probably benign |
Het |
| Ankk1 |
A |
T |
9: 49,338,183 (GRCm39) |
W37R |
possibly damaging |
Het |
| Arhgap11a |
C |
A |
2: 113,664,695 (GRCm39) |
M529I |
probably benign |
Het |
| Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
| Ddx47 |
T |
C |
6: 135,000,318 (GRCm39) |
I438T |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,358,647 (GRCm39) |
T3379A |
probably benign |
Het |
| Dusp3 |
A |
G |
11: 101,871,495 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
A |
G |
12: 110,594,440 (GRCm39) |
K1289E |
possibly damaging |
Het |
| Egf |
A |
T |
3: 129,530,421 (GRCm39) |
I247N |
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,083,692 (GRCm39) |
L126P |
probably benign |
Het |
| Fat3 |
T |
A |
9: 16,287,864 (GRCm39) |
H553L |
possibly damaging |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,740 (GRCm39) |
L257P |
probably damaging |
Het |
| Gimap8 |
T |
C |
6: 48,635,888 (GRCm39) |
I551T |
possibly damaging |
Het |
| Gnptab |
C |
A |
10: 88,267,257 (GRCm39) |
D449E |
probably damaging |
Het |
| Grb10 |
T |
C |
11: 11,883,551 (GRCm39) |
D513G |
probably damaging |
Het |
| Grin1 |
T |
G |
2: 25,195,170 (GRCm39) |
D283A |
probably damaging |
Het |
| Gtf2i |
A |
T |
5: 134,315,911 (GRCm39) |
|
probably null |
Het |
| Ip6k3 |
A |
G |
17: 27,367,599 (GRCm39) |
V199A |
possibly damaging |
Het |
| Kif17 |
T |
A |
4: 138,015,643 (GRCm39) |
Y405* |
probably null |
Het |
| Lair1 |
T |
C |
7: 4,031,895 (GRCm39) |
M71V |
probably benign |
Het |
| Mamdc2 |
G |
A |
19: 23,330,679 (GRCm39) |
T376M |
probably damaging |
Het |
| Msra |
G |
A |
14: 64,678,183 (GRCm39) |
R38C |
probably damaging |
Het |
| Mthfd1 |
A |
T |
12: 76,350,447 (GRCm39) |
I462F |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,457,938 (GRCm39) |
|
probably null |
Het |
| Neb |
A |
G |
2: 52,110,943 (GRCm39) |
M181T |
probably benign |
Het |
| Noxo1 |
A |
G |
17: 24,915,545 (GRCm39) |
|
probably benign |
Het |
| Optn |
C |
A |
2: 5,026,134 (GRCm39) |
|
probably null |
Het |
| Or10ag58 |
A |
T |
2: 87,265,733 (GRCm39) |
K301* |
probably null |
Het |
| Or4c103 |
A |
G |
2: 88,513,935 (GRCm39) |
I47T |
probably damaging |
Het |
| Or5k17 |
A |
T |
16: 58,746,895 (GRCm39) |
I13N |
possibly damaging |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,727,033 (GRCm39) |
|
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,593,047 (GRCm39) |
I209V |
probably benign |
Het |
| Prss12 |
A |
G |
3: 123,283,258 (GRCm39) |
I517V |
possibly damaging |
Het |
| Pwwp3a |
A |
G |
10: 80,064,865 (GRCm39) |
K32E |
probably benign |
Het |
| Ripor2 |
C |
T |
13: 24,798,627 (GRCm39) |
|
probably benign |
Het |
| Rmnd5b |
A |
G |
11: 51,516,536 (GRCm39) |
S274P |
probably benign |
Het |
| Sftpa1 |
T |
A |
14: 40,854,509 (GRCm39) |
I32N |
probably damaging |
Het |
| Slc2a12 |
T |
A |
10: 22,541,246 (GRCm39) |
I367N |
probably damaging |
Het |
| Sorcs1 |
T |
C |
19: 50,276,532 (GRCm39) |
D340G |
probably damaging |
Het |
| Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,775,547 (GRCm39) |
E421V |
probably damaging |
Het |
| Tecta |
A |
T |
9: 42,284,371 (GRCm39) |
F905I |
probably benign |
Het |
| Tmem106a |
T |
A |
11: 101,474,576 (GRCm39) |
C58* |
probably null |
Het |
| Tmem131l |
A |
T |
3: 83,805,689 (GRCm39) |
F1585I |
probably damaging |
Het |
| Tnks2 |
T |
C |
19: 36,856,752 (GRCm39) |
S208P |
possibly damaging |
Het |
| Trim50 |
A |
G |
5: 135,382,274 (GRCm39) |
N42S |
probably benign |
Het |
| Tsc22d2 |
T |
A |
3: 58,367,674 (GRCm39) |
|
probably benign |
Het |
| Ttll3 |
T |
A |
6: 113,371,702 (GRCm39) |
L23H |
probably damaging |
Het |
| Vmn1r10 |
A |
G |
6: 57,091,218 (GRCm39) |
Y270C |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
| Zfp677 |
A |
G |
17: 21,618,070 (GRCm39) |
T376A |
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 |
|
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 |
|
R9052:Synj1
|
UTSW |
16 |
90,735,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- CTGGTTGGCATGCAACTTACAG -3'
(R):5'- GAACAGAGCATGAGCAAATTCATC -3'
Sequencing Primer
(F):5'- GGTTGGCATGCAACTTACAGAACTC -3'
(R):5'- GAGCATGAGCAAATTCATCATTTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation