Incidental Mutation 'R6313:Synj1'
ID |
510553 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synj1
|
Ensembl Gene |
ENSMUSG00000022973 |
Gene Name |
synaptojanin 1 |
Synonyms |
A930006D20Rik |
MMRRC Submission |
044470-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6313 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 90743703 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 1186
(A1186T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128997
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121759]
[ENSMUST00000129743]
[ENSMUST00000170853]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000118390
AA Change: A1200T
|
SMART Domains |
Protein: ENSMUSP00000113518 Gene: ENSMUSG00000022973 AA Change: A1200T
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: A1226T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000113308 Gene: ENSMUSG00000022973 AA Change: A1226T
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 |
unknown
Transcript: ENSMUST00000125032
AA Change: A134T
|
SMART Domains |
Protein: ENSMUSP00000120399 Gene: ENSMUSG00000022973 AA Change: A134T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
32 |
N/A |
INTRINSIC |
low complexity region
|
80 |
110 |
N/A |
INTRINSIC |
low complexity region
|
123 |
142 |
N/A |
INTRINSIC |
|
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 |
unknown
Transcript: ENSMUST00000154276
AA Change: A65T
|
SMART Domains |
Protein: ENSMUSP00000122675 Gene: ENSMUSG00000022973 AA Change: A65T
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
AA Change: A1186T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000128997 Gene: ENSMUSG00000022973 AA Change: A1186T
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 |
unknown
Transcript: ENSMUST00000231524
AA Change: A165T
|
Meta Mutation Damage Score |
0.0578 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (70/70) |
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 |
Abca16 |
T |
C |
7: 120,126,344 (GRCm39) |
F1167L |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Acaca |
C |
T |
11: 84,183,755 (GRCm39) |
T32I |
probably benign |
Het |
Adam6a |
A |
T |
12: 113,508,670 (GRCm39) |
N348Y |
possibly damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,940,469 (GRCm39) |
D39G |
possibly damaging |
Het |
Arid5b |
T |
C |
10: 67,933,412 (GRCm39) |
D587G |
possibly damaging |
Het |
Brwd1 |
A |
G |
16: 95,809,141 (GRCm39) |
V1963A |
probably benign |
Het |
Ccdc136 |
T |
A |
6: 29,410,204 (GRCm39) |
L34Q |
probably damaging |
Het |
Cdh2 |
T |
C |
18: 16,907,579 (GRCm39) |
Q53R |
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,308,530 (GRCm39) |
S1799L |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,935,936 (GRCm39) |
E457G |
probably benign |
Het |
Cmtm1 |
A |
T |
8: 105,031,795 (GRCm39) |
M283K |
possibly damaging |
Het |
Dcdc5 |
T |
C |
2: 106,198,516 (GRCm39) |
|
noncoding transcript |
Het |
Decr1 |
T |
A |
4: 15,924,261 (GRCm39) |
M220L |
probably benign |
Het |
Dgkg |
T |
G |
16: 22,338,311 (GRCm39) |
D592A |
probably damaging |
Het |
Dkkl1 |
T |
C |
7: 44,860,862 (GRCm39) |
Q39R |
probably benign |
Het |
Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
Efcab2 |
A |
T |
1: 178,308,936 (GRCm39) |
E146D |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,049,652 (GRCm39) |
V504A |
possibly damaging |
Het |
Ermard |
T |
G |
17: 15,273,467 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
C |
15: 102,224,247 (GRCm39) |
V1266A |
probably benign |
Het |
Fbxw22 |
A |
C |
9: 109,232,465 (GRCm39) |
V40G |
probably damaging |
Het |
Gm3629 |
A |
T |
14: 17,834,409 (GRCm39) |
I194N |
possibly damaging |
Het |
Gnai2 |
C |
T |
9: 107,497,296 (GRCm39) |
V33M |
possibly damaging |
Het |
H2-DMb1 |
T |
C |
17: 34,376,506 (GRCm39) |
|
probably null |
Het |
Hc |
T |
C |
2: 34,879,851 (GRCm39) |
|
probably null |
Het |
Iars1 |
T |
C |
13: 49,861,921 (GRCm39) |
S491P |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,899,799 (GRCm39) |
L500H |
probably damaging |
Het |
Lamb1 |
A |
T |
12: 31,319,146 (GRCm39) |
T102S |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,866,373 (GRCm39) |
S1123P |
probably damaging |
Het |
Mettl5 |
C |
A |
2: 69,702,071 (GRCm39) |
|
probably null |
Het |
Mmp11 |
A |
G |
10: 75,759,818 (GRCm39) |
*4R |
probably null |
Het |
Myom1 |
A |
T |
17: 71,389,483 (GRCm39) |
D911V |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,638,367 (GRCm39) |
T96A |
probably benign |
Het |
Nlrp4e |
G |
T |
7: 23,052,597 (GRCm39) |
V839L |
probably benign |
Het |
Notch3 |
A |
T |
17: 32,370,128 (GRCm39) |
|
probably null |
Het |
Or8k35 |
T |
C |
2: 86,424,411 (GRCm39) |
T254A |
possibly damaging |
Het |
Pcdh8 |
T |
C |
14: 80,005,091 (GRCm39) |
H978R |
probably benign |
Het |
Pde8b |
A |
T |
13: 95,178,508 (GRCm39) |
C537* |
probably null |
Het |
Polr1b |
T |
C |
2: 128,967,366 (GRCm39) |
F920L |
probably damaging |
Het |
Polr2f |
A |
G |
15: 79,035,573 (GRCm39) |
T87A |
probably damaging |
Het |
Pon2 |
T |
A |
6: 5,272,421 (GRCm39) |
H133L |
probably damaging |
Het |
Pou2af2 |
C |
T |
9: 51,201,481 (GRCm39) |
D192N |
probably damaging |
Het |
Ptk2b |
T |
A |
14: 66,416,280 (GRCm39) |
E205V |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
Rlf |
G |
A |
4: 121,005,807 (GRCm39) |
R1058W |
probably damaging |
Het |
S100z |
T |
A |
13: 95,615,082 (GRCm39) |
K28* |
probably null |
Het |
Scarf1 |
T |
A |
11: 75,411,141 (GRCm39) |
N273K |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,385,434 (GRCm39) |
I136M |
unknown |
Het |
Sfrp2 |
A |
G |
3: 83,674,291 (GRCm39) |
D148G |
probably benign |
Het |
Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
Slc2a9 |
T |
G |
5: 38,610,464 (GRCm39) |
I112L |
probably benign |
Het |
Smc5 |
A |
T |
19: 23,186,312 (GRCm39) |
Y972* |
probably null |
Het |
Sntg1 |
T |
C |
1: 8,515,248 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
T |
C |
10: 82,129,470 (GRCm39) |
N1180S |
probably benign |
Het |
Stag1 |
A |
G |
9: 100,639,786 (GRCm39) |
D114G |
probably damaging |
Het |
Suclg1 |
T |
C |
6: 73,233,192 (GRCm39) |
S46P |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,732,410 (GRCm39) |
T240A |
probably benign |
Het |
Tax1bp1 |
T |
C |
6: 52,721,341 (GRCm39) |
|
probably null |
Het |
Tchh |
C |
A |
3: 93,355,158 (GRCm39) |
Q1533K |
unknown |
Het |
Tmprss15 |
T |
C |
16: 78,759,058 (GRCm39) |
T887A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,536,937 (GRCm39) |
I34963V |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,078,878 (GRCm39) |
G1485D |
probably damaging |
Het |
Usp9y |
G |
T |
Y: 1,385,355 (GRCm39) |
H633N |
probably benign |
Homo |
Vmn2r99 |
A |
T |
17: 19,602,867 (GRCm39) |
N541Y |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,810,854 (GRCm39) |
N337K |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,267 (GRCm39) |
C56S |
possibly damaging |
Het |
Zfp457 |
C |
T |
13: 67,440,746 (GRCm39) |
E610K |
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 |
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 |
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'- ACACCAAGATCTTTATTTAGCAGCC -3'
(R):5'- TTCCCCTTAAAACTGGACCATG -3'
Sequencing Primer
(F):5'- CCAGTTAGTGCAGTCATTAGCAAGTC -3'
(R):5'- CTGGACCATGCAATAGACTGG -3'
|
Posted On |
2018-04-02 |