Incidental Mutation 'R1732:Synj1'
ID |
199428 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synj1
|
Ensembl Gene |
ENSMUSG00000022973 |
Gene Name |
synaptojanin 1 |
Synonyms |
A930006D20Rik |
MMRRC Submission |
039764-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1732 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90761118 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 710
(K710E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121759]
[ENSMUST00000130813]
[ENSMUST00000170853]
[ENSMUST00000231472]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000118246
|
Predicted Effect |
unknown
Transcript: ENSMUST00000118390
AA Change: K724E
|
SMART Domains |
Protein: ENSMUSP00000113518 Gene: ENSMUSG00000022973 AA Change: K724E
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 damaging
Transcript: ENSMUST00000121759
AA Change: K750E
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113308 Gene: ENSMUSG00000022973 AA Change: K750E
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: ENSMUST00000130813
|
SMART Domains |
Protein: ENSMUSP00000119712 Gene: ENSMUSG00000022973
Domain | Start | End | E-Value | Type |
Pfam:Syja_N
|
59 |
346 |
1.4e-86 |
PFAM |
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
IPPc
|
526 |
693 |
1.8e-9 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170853
AA Change: K710E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000128997 Gene: ENSMUSG00000022973 AA Change: K710E
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: ENSMUST00000231472
|
Meta Mutation Damage Score |
0.1772 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.6%
|
Validation Efficiency |
99% (78/79) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
C |
A |
12: 71,265,995 (GRCm39) |
Q1445K |
probably benign |
Het |
Acacb |
A |
T |
5: 114,328,148 (GRCm39) |
M303L |
possibly damaging |
Het |
Actl9 |
T |
C |
17: 33,652,096 (GRCm39) |
V52A |
probably damaging |
Het |
Adam7 |
T |
C |
14: 68,735,899 (GRCm39) |
T781A |
probably benign |
Het |
Agpat4 |
T |
C |
17: 12,435,615 (GRCm39) |
V293A |
probably benign |
Het |
Ank1 |
T |
A |
8: 23,601,479 (GRCm39) |
|
probably benign |
Het |
Atp1a1 |
C |
A |
3: 101,492,115 (GRCm39) |
G587V |
probably damaging |
Het |
Avpr1b |
T |
C |
1: 131,527,992 (GRCm39) |
F172L |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,723,705 (GRCm39) |
D710E |
possibly damaging |
Het |
Cep126 |
A |
T |
9: 8,099,762 (GRCm39) |
I924N |
probably benign |
Het |
Chek2 |
G |
T |
5: 111,019,968 (GRCm39) |
A517S |
probably benign |
Het |
Cmbl |
A |
T |
15: 31,588,378 (GRCm39) |
E165D |
probably damaging |
Het |
Cntnap3 |
A |
T |
13: 64,888,626 (GRCm39) |
|
probably null |
Het |
Col1a1 |
A |
T |
11: 94,835,241 (GRCm39) |
|
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,600,653 (GRCm39) |
M624V |
possibly damaging |
Het |
Cwc15 |
A |
G |
9: 14,421,543 (GRCm39) |
D203G |
probably benign |
Het |
Cyld |
C |
T |
8: 89,458,295 (GRCm39) |
|
probably benign |
Het |
Cyp3a57 |
A |
T |
5: 145,302,455 (GRCm39) |
I84F |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,409,267 (GRCm39) |
|
probably benign |
Het |
Desi2 |
A |
C |
1: 178,084,217 (GRCm39) |
|
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,026,511 (GRCm39) |
L1873* |
probably null |
Het |
Dmxl1 |
T |
A |
18: 50,036,055 (GRCm39) |
H2359Q |
probably benign |
Het |
Ephb4 |
A |
G |
5: 137,370,440 (GRCm39) |
N880S |
possibly damaging |
Het |
F10 |
T |
C |
8: 13,100,764 (GRCm39) |
L214P |
probably damaging |
Het |
F5 |
G |
A |
1: 164,001,719 (GRCm39) |
V141M |
probably damaging |
Het |
Fam135a |
A |
T |
1: 24,065,734 (GRCm39) |
S1022T |
possibly damaging |
Het |
Fam13b |
A |
T |
18: 34,620,187 (GRCm39) |
N232K |
probably benign |
Het |
Fyco1 |
T |
C |
9: 123,648,157 (GRCm39) |
E1259G |
probably benign |
Het |
Gak |
A |
T |
5: 108,724,448 (GRCm39) |
D1087E |
probably benign |
Het |
Gm7138 |
A |
T |
10: 77,612,682 (GRCm39) |
|
probably benign |
Het |
Gm8674 |
T |
A |
13: 50,055,962 (GRCm39) |
|
noncoding transcript |
Het |
Gpr25 |
A |
G |
1: 136,187,866 (GRCm39) |
V249A |
probably benign |
Het |
Hcn3 |
T |
C |
3: 89,055,426 (GRCm39) |
H607R |
probably damaging |
Het |
Hdac4 |
T |
A |
1: 91,875,257 (GRCm39) |
T905S |
probably benign |
Het |
Itgad |
T |
C |
7: 127,804,279 (GRCm39) |
S86P |
probably benign |
Het |
Itgb4 |
G |
T |
11: 115,879,744 (GRCm39) |
R632L |
probably damaging |
Het |
Kcnb2 |
A |
T |
1: 15,779,979 (GRCm39) |
T284S |
probably benign |
Het |
Klhl22 |
T |
A |
16: 17,594,888 (GRCm39) |
M339K |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
Mybpc2 |
C |
A |
7: 44,163,099 (GRCm39) |
V484L |
probably benign |
Het |
Noa1 |
A |
T |
5: 77,454,221 (GRCm39) |
V473E |
probably benign |
Het |
Nwd1 |
C |
G |
8: 73,393,463 (GRCm39) |
S242C |
possibly damaging |
Het |
Or55b10 |
C |
A |
7: 102,143,247 (GRCm39) |
C245F |
probably damaging |
Het |
Or7e174 |
A |
G |
9: 20,012,796 (GRCm39) |
H247R |
probably damaging |
Het |
Otof |
A |
T |
5: 30,543,815 (GRCm39) |
W535R |
probably damaging |
Het |
Peg3 |
T |
C |
7: 6,712,084 (GRCm39) |
E1046G |
possibly damaging |
Het |
Phldb2 |
T |
C |
16: 45,577,529 (GRCm39) |
E1132G |
probably damaging |
Het |
Phtf2 |
A |
T |
5: 20,994,625 (GRCm39) |
|
probably null |
Het |
Plce1 |
G |
T |
19: 38,705,282 (GRCm39) |
A896S |
possibly damaging |
Het |
Prim1 |
T |
C |
10: 127,851,193 (GRCm39) |
Y26H |
probably damaging |
Het |
Prr12 |
T |
A |
7: 44,697,780 (GRCm39) |
T712S |
unknown |
Het |
Psme4 |
G |
A |
11: 30,798,105 (GRCm39) |
R1366H |
probably benign |
Het |
Ptpdc1 |
T |
C |
13: 48,740,021 (GRCm39) |
E409G |
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,795,467 (GRCm39) |
N274S |
probably damaging |
Het |
Rbm14 |
A |
G |
19: 4,853,495 (GRCm39) |
S296P |
probably benign |
Het |
Rec114 |
A |
G |
9: 58,560,389 (GRCm39) |
S206P |
probably damaging |
Het |
Rps6ka1 |
A |
T |
4: 133,587,381 (GRCm39) |
Y531N |
probably damaging |
Het |
Slc28a2 |
T |
C |
2: 122,280,239 (GRCm39) |
|
probably benign |
Het |
Slc34a1 |
A |
G |
13: 55,561,233 (GRCm39) |
H566R |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,373,291 (GRCm39) |
T290A |
probably benign |
Het |
Smarcc1 |
T |
A |
9: 110,014,888 (GRCm39) |
|
probably benign |
Het |
Srp54b |
T |
A |
12: 55,299,544 (GRCm39) |
|
probably null |
Het |
Stambpl1 |
C |
G |
19: 34,204,121 (GRCm39) |
N70K |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,763,669 (GRCm39) |
D795V |
probably damaging |
Het |
Tgm2 |
T |
C |
2: 157,976,277 (GRCm39) |
Y149C |
probably damaging |
Het |
Tmem151a |
C |
A |
19: 5,132,895 (GRCm39) |
A104S |
probably damaging |
Het |
Top1mt |
A |
G |
15: 75,538,100 (GRCm39) |
|
probably null |
Het |
Tpgs1 |
T |
A |
10: 79,511,428 (GRCm39) |
L190Q |
possibly damaging |
Het |
Triobp |
T |
A |
15: 78,851,428 (GRCm39) |
H527Q |
possibly damaging |
Het |
Tspan2 |
A |
G |
3: 102,676,193 (GRCm39) |
I197V |
probably damaging |
Het |
Ube3b |
A |
G |
5: 114,525,506 (GRCm39) |
I76V |
probably benign |
Het |
Vmn1r32 |
A |
T |
6: 66,530,285 (GRCm39) |
S164T |
probably benign |
Het |
Zfp607a |
G |
T |
7: 27,577,884 (GRCm39) |
C318F |
probably 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 |
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 |
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'- ACAAGGGCTTGCACTATCAGCAC -3'
(R):5'- AGCACGCTCCTTTTATCAGGTCAG -3'
Sequencing Primer
(F):5'- ATCAGCACTGCGCCTTG -3'
(R):5'- CCTTTTATCAGGTCAGTGACAGAC -3'
|
Posted On |
2014-05-23 |