Incidental Mutation 'IGL02619:Synj1'
| ID |
300791 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Synj1
|
| Ensembl Gene |
ENSMUSG00000022973 |
| Gene Name |
synaptojanin 1 |
| Synonyms |
A930006D20Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02619
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 90770933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 499
(V499I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113308
(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: V473I
|
| SMART Domains |
Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: V473I
| 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: V499I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: V499I
| 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 |
possibly damaging
Transcript: ENSMUST00000130813
AA Change: V462I
PolyPhen 2
Score 0.510 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119712
Gene: ENSMUSG00000022973
AA Change: V462I
| 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 |
possibly damaging
Transcript: ENSMUST00000170853
AA Change: V459I
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: V459I
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
C |
T |
1: 179,620,016 (GRCm39) |
G220E |
possibly damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,321,504 (GRCm39) |
I101T |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,902,298 (GRCm39) |
C4S |
probably damaging |
Het |
| Ccdc174 |
T |
A |
6: 91,876,538 (GRCm39) |
D458E |
possibly damaging |
Het |
| Cercam |
A |
G |
2: 29,770,686 (GRCm39) |
N419S |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,512,083 (GRCm39) |
N551S |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,580,988 (GRCm39) |
I87F |
probably damaging |
Het |
| Ctso |
T |
A |
3: 81,848,836 (GRCm39) |
|
probably benign |
Het |
| Ddhd2 |
C |
A |
8: 26,236,981 (GRCm39) |
|
probably null |
Het |
| Dscaml1 |
T |
A |
9: 45,359,094 (GRCm39) |
Y118N |
probably damaging |
Het |
| Ece1 |
C |
T |
4: 137,666,044 (GRCm39) |
A296V |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,766 (GRCm39) |
I115F |
possibly damaging |
Het |
| Fkbp9 |
T |
A |
6: 56,827,609 (GRCm39) |
N143K |
probably damaging |
Het |
| Foxk2 |
G |
T |
11: 121,190,402 (GRCm39) |
|
probably benign |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,529 (GRCm39) |
K33E |
probably benign |
Het |
| Hace1 |
A |
T |
10: 45,547,530 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
A |
T |
13: 55,162,107 (GRCm39) |
C133S |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,331,252 (GRCm39) |
A542V |
probably damaging |
Het |
| Lrch2 |
A |
C |
X: 146,263,537 (GRCm39) |
V363G |
probably damaging |
Het |
| Lrch2 |
C |
T |
X: 146,302,131 (GRCm39) |
C264Y |
probably damaging |
Het |
| Lrrc56 |
C |
A |
7: 140,787,546 (GRCm39) |
|
probably benign |
Het |
| Lrtm2 |
C |
T |
6: 119,294,199 (GRCm39) |
V311M |
probably damaging |
Het |
| N4bp1 |
G |
T |
8: 87,587,529 (GRCm39) |
Q470K |
probably benign |
Het |
| Naa15 |
A |
C |
3: 51,367,552 (GRCm39) |
D575A |
probably benign |
Het |
| Ncaph |
A |
T |
2: 126,969,456 (GRCm39) |
V69D |
probably damaging |
Het |
| Nlrp5 |
G |
A |
7: 23,123,489 (GRCm39) |
|
probably null |
Het |
| Nmbr |
A |
G |
10: 14,636,331 (GRCm39) |
D100G |
probably damaging |
Het |
| Ofcc1 |
C |
T |
13: 40,250,553 (GRCm39) |
V588M |
possibly damaging |
Het |
| Or4b13 |
G |
T |
2: 90,082,849 (GRCm39) |
T161N |
probably damaging |
Het |
| Or5p4 |
C |
A |
7: 107,680,949 (GRCm39) |
|
probably benign |
Het |
| Osmr |
C |
A |
15: 6,871,475 (GRCm39) |
R314M |
probably damaging |
Het |
| Pcdhb16 |
C |
T |
18: 37,611,270 (GRCm39) |
Q77* |
probably null |
Het |
| Pglyrp4 |
G |
A |
3: 90,642,955 (GRCm39) |
|
probably null |
Het |
| Ptprh |
A |
G |
7: 4,552,498 (GRCm39) |
F922S |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,418,673 (GRCm39) |
Q813L |
possibly damaging |
Het |
| Sgtb |
A |
G |
13: 104,254,922 (GRCm39) |
N64S |
probably benign |
Het |
| Slc5a12 |
T |
C |
2: 110,471,201 (GRCm39) |
V481A |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,149,349 (GRCm39) |
V454A |
probably benign |
Het |
| Sntg2 |
C |
A |
12: 30,317,025 (GRCm39) |
|
probably null |
Het |
| Tmco1 |
T |
C |
1: 167,153,597 (GRCm39) |
|
probably benign |
Het |
| Tmem38b |
T |
C |
4: 53,848,871 (GRCm39) |
I92T |
probably damaging |
Het |
| Tmem9 |
T |
C |
1: 135,955,145 (GRCm39) |
V93A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,625,582 (GRCm39) |
R15080S |
possibly damaging |
Het |
| Ube2e3 |
T |
C |
2: 78,749,065 (GRCm39) |
I138T |
probably damaging |
Het |
| Urgcp |
A |
G |
11: 5,665,752 (GRCm39) |
I862T |
possibly damaging |
Het |
| Vmn1r68 |
A |
T |
7: 10,261,603 (GRCm39) |
I165N |
probably benign |
Het |
| Washc4 |
G |
A |
10: 83,394,717 (GRCm39) |
V316I |
possibly damaging |
Het |
| Zfp111 |
A |
T |
7: 23,899,113 (GRCm39) |
L166Q |
possibly damaging |
Het |
| Zfyve1 |
A |
T |
12: 83,597,718 (GRCm39) |
|
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,508,793 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation