Incidental Mutation 'R9732:Synj1'
ID |
731507 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synj1
|
Ensembl Gene |
ENSMUSG00000022973 |
Gene Name |
synaptojanin 1 |
Synonyms |
A930006D20Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9732 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 90761414 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Leucine
at position 684
(P684L)
|
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 |
|
SMART Domains |
Protein: ENSMUSP00000113518 Gene: ENSMUSG00000022973 AA Change: P658L
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: P684L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113308 Gene: ENSMUSG00000022973 AA Change: P684L
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
AA Change: P639L
PolyPhen 2
Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000119712 Gene: ENSMUSG00000022973 AA Change: P639L
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: P644L
PolyPhen 2
Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000128997 Gene: ENSMUSG00000022973 AA Change: P644L
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 |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 99.0%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agrn |
A |
T |
4: 156,258,446 (GRCm39) |
S1007T |
probably benign |
Het |
Akap10 |
A |
T |
11: 61,787,545 (GRCm39) |
C466S |
probably damaging |
Het |
Apol9b |
C |
T |
15: 77,619,566 (GRCm39) |
P121S |
possibly damaging |
Het |
Atr |
T |
A |
9: 95,743,438 (GRCm39) |
Y26N |
probably damaging |
Het |
Cadm2 |
G |
A |
16: 66,528,297 (GRCm39) |
T346I |
probably benign |
Het |
Capn7 |
T |
C |
14: 31,090,031 (GRCm39) |
I628T |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,775,446 (GRCm39) |
S609P |
probably damaging |
Het |
Chst2 |
C |
T |
9: 95,287,951 (GRCm39) |
G132S |
probably benign |
Het |
Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
Coq10a |
A |
G |
10: 128,199,516 (GRCm39) |
F253L |
probably benign |
Het |
Cyp2t4 |
C |
T |
7: 26,854,657 (GRCm39) |
P46S |
probably damaging |
Het |
Ddx54 |
T |
C |
5: 120,763,911 (GRCm39) |
|
probably null |
Het |
Dip2a |
T |
A |
10: 76,110,077 (GRCm39) |
I1180L |
probably benign |
Het |
Dpp8 |
G |
T |
9: 64,970,862 (GRCm39) |
|
probably null |
Het |
Efr3a |
T |
A |
15: 65,720,139 (GRCm39) |
N378K |
probably benign |
Het |
Etl4 |
C |
T |
2: 20,748,373 (GRCm39) |
T237I |
probably damaging |
Het |
Exo1 |
T |
A |
1: 175,727,065 (GRCm39) |
S459T |
probably benign |
Het |
Fam81b |
G |
A |
13: 76,399,985 (GRCm39) |
T91I |
probably benign |
Het |
Fry |
A |
G |
5: 150,328,758 (GRCm39) |
E1297G |
probably benign |
Het |
Gm11110 |
G |
A |
17: 57,410,382 (GRCm39) |
L39F |
unknown |
Het |
Gm3233 |
G |
T |
10: 77,595,147 (GRCm39) |
Q124K |
unknown |
Het |
Gm7145 |
C |
G |
1: 117,913,839 (GRCm39) |
H240Q |
probably benign |
Het |
Gnrh1 |
G |
T |
14: 67,985,316 (GRCm39) |
R67L |
possibly damaging |
Het |
Grip2 |
T |
A |
6: 91,761,686 (GRCm39) |
E236V |
probably damaging |
Het |
H3c10 |
A |
T |
13: 21,902,186 (GRCm39) |
I120F |
probably benign |
Het |
Hectd4 |
G |
T |
5: 121,392,254 (GRCm39) |
E173* |
probably null |
Het |
Hgf |
T |
A |
5: 16,820,748 (GRCm39) |
L632I |
probably damaging |
Het |
Igsf11 |
T |
C |
16: 38,843,652 (GRCm39) |
V255A |
probably benign |
Het |
Jmjd4 |
G |
T |
11: 59,341,339 (GRCm39) |
|
probably null |
Het |
Khdrbs3 |
C |
A |
15: 68,885,212 (GRCm39) |
N71K |
probably damaging |
Het |
Kif20b |
A |
G |
19: 34,930,353 (GRCm39) |
D1286G |
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,734,196 (GRCm39) |
L27Q |
probably damaging |
Het |
Macroh2a1 |
G |
C |
13: 56,243,976 (GRCm39) |
F183L |
probably benign |
Het |
Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
Mipep |
T |
A |
14: 61,033,637 (GRCm39) |
F184I |
probably damaging |
Het |
Mst1 |
A |
T |
9: 107,959,425 (GRCm39) |
D237V |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,448,749 (GRCm39) |
D1803G |
probably damaging |
Het |
Ncoa6 |
T |
G |
2: 155,244,636 (GRCm39) |
K1978T |
probably damaging |
Het |
Nkain4 |
G |
A |
2: 180,585,901 (GRCm39) |
T54I |
probably damaging |
Het |
Olig3 |
G |
A |
10: 19,233,151 (GRCm39) |
A259T |
probably benign |
Het |
Or5w14 |
T |
C |
2: 87,541,489 (GRCm39) |
T254A |
possibly damaging |
Het |
Pacs1 |
A |
G |
19: 5,184,997 (GRCm39) |
W943R |
probably damaging |
Het |
Pkp4 |
T |
A |
2: 59,138,797 (GRCm39) |
L349Q |
possibly damaging |
Het |
Polh |
A |
T |
17: 46,498,997 (GRCm39) |
H239Q |
probably benign |
Het |
Ptprq |
G |
C |
10: 107,412,767 (GRCm39) |
C1777W |
probably damaging |
Het |
Rhod |
A |
T |
19: 4,476,740 (GRCm39) |
V127E |
probably damaging |
Het |
Rnf6 |
A |
G |
5: 146,152,931 (GRCm39) |
S84P |
probably benign |
Het |
Rundc3b |
T |
C |
5: 8,562,406 (GRCm39) |
T321A |
probably damaging |
Het |
Rxfp2 |
G |
A |
5: 149,993,767 (GRCm39) |
A620T |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,381,863 (GRCm39) |
E155G |
probably benign |
Het |
Saxo5 |
C |
T |
8: 3,526,167 (GRCm39) |
H107Y |
possibly damaging |
Het |
Sdad1 |
A |
T |
5: 92,438,942 (GRCm39) |
D471E |
probably benign |
Het |
Sema6a |
T |
A |
18: 47,381,925 (GRCm39) |
N874I |
probably damaging |
Het |
Serinc4 |
C |
A |
2: 121,283,631 (GRCm39) |
W283L |
possibly damaging |
Het |
Simc1 |
GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA |
13: 54,673,177 (GRCm39) |
|
probably benign |
Het |
Slc24a3 |
A |
T |
2: 145,458,591 (GRCm39) |
S524C |
probably damaging |
Het |
Slc4a10 |
T |
G |
2: 62,135,086 (GRCm39) |
S1042R |
probably damaging |
Het |
Smg7 |
A |
T |
1: 152,736,212 (GRCm39) |
V190D |
probably damaging |
Het |
Sub1 |
T |
A |
15: 11,986,650 (GRCm39) |
I66F |
possibly damaging |
Het |
Svop |
G |
A |
5: 114,201,142 (GRCm39) |
P109S |
probably damaging |
Het |
Synm |
A |
G |
7: 67,385,652 (GRCm39) |
V670A |
probably damaging |
Het |
Tep1 |
T |
C |
14: 51,088,162 (GRCm39) |
I792V |
probably benign |
Het |
Tex22 |
A |
G |
12: 113,052,196 (GRCm39) |
T85A |
possibly damaging |
Het |
Tmem151a |
C |
T |
19: 5,131,937 (GRCm39) |
S423N |
probably damaging |
Het |
Tnks1bp1 |
T |
A |
2: 84,889,727 (GRCm39) |
W685R |
probably damaging |
Het |
Top3a |
A |
G |
11: 60,640,391 (GRCm39) |
F436L |
probably benign |
Het |
Trim55 |
A |
T |
3: 19,716,039 (GRCm39) |
I200F |
probably damaging |
Het |
Trpv6 |
T |
A |
6: 41,603,862 (GRCm39) |
R186* |
probably null |
Het |
Ttc6 |
G |
A |
12: 57,775,335 (GRCm39) |
C1677Y |
probably benign |
Het |
Ttn |
C |
T |
2: 76,769,206 (GRCm39) |
V2831I |
unknown |
Het |
Tyrp1 |
T |
A |
4: 80,758,930 (GRCm39) |
S268T |
possibly damaging |
Het |
Unc5d |
C |
T |
8: 29,381,319 (GRCm39) |
|
probably null |
Het |
Usb1 |
G |
T |
8: 96,065,375 (GRCm39) |
V129L |
probably damaging |
Het |
Usp22 |
G |
A |
11: 61,051,437 (GRCm39) |
T302M |
probably damaging |
Het |
Vmn1r210 |
C |
A |
13: 23,011,379 (GRCm39) |
L302F |
possibly damaging |
Het |
Zfp689 |
C |
A |
7: 127,044,283 (GRCm39) |
E116* |
probably null |
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 |
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 |
Z1176:Synj1
|
UTSW |
16 |
90,784,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCATCCGAATTGCAACG -3'
(R):5'- GCAGCTTGCATGAAAATGTTC -3'
Sequencing Primer
(F):5'- AATTGCAACGGCGCCCTTG -3'
(R):5'- TTAAGCAATCAGATGTATAAAGGGC -3'
|
Posted On |
2022-11-14 |