Incidental Mutation 'R0697:Synj1'
| ID |
63906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Synj1
|
| Ensembl Gene |
ENSMUSG00000022973 |
| Gene Name |
synaptojanin 1 |
| Synonyms |
|
| MMRRC Submission |
038881-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0697 (G1)
|
| Quality Score |
118 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
90936092-91011308 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90960615 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 882
(T882A)
|
| 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: T856A
|
| SMART Domains |
Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: T856A
| 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: T882A
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: T882A
| 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 benign
Transcript: ENSMUST00000170853
AA Change: T842A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: T842A
| 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: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,911,167 |
A99E |
probably damaging |
Het |
| Aig1 |
T |
C |
10: 13,829,325 |
N72S |
probably benign |
Het |
| Atad2 |
T |
C |
15: 58,105,543 |
I857M |
possibly damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,673,520 |
L24* |
probably null |
Het |
| Cpsf2 |
A |
G |
12: 101,983,184 |
H53R |
probably benign |
Het |
| Crh |
C |
A |
3: 19,694,077 |
G134C |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,814,727 |
K253* |
probably null |
Het |
| Dna2 |
T |
C |
10: 62,949,341 |
V79A |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,041,452 |
V549A |
probably damaging |
Het |
| Etl4 |
G |
T |
2: 20,743,861 |
V135F |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,607,837 |
H398R |
probably benign |
Het |
| Gfra1 |
A |
C |
19: 58,270,123 |
S271A |
probably benign |
Het |
| Htr1b |
T |
C |
9: 81,631,463 |
I364V |
possibly damaging |
Het |
| Kcnh5 |
A |
T |
12: 74,976,531 |
C588S |
possibly damaging |
Het |
| Kif13a |
G |
A |
13: 46,848,337 |
T70I |
probably benign |
Het |
| Klra6 |
T |
C |
6: 130,016,724 |
I195V |
probably benign |
Het |
| Nras |
T |
C |
3: 103,060,300 |
Y71H |
possibly damaging |
Het |
| Sirt5 |
T |
C |
13: 43,385,576 |
F274L |
probably damaging |
Het |
| Vmn1r84 |
A |
T |
7: 12,362,763 |
M1K |
probably null |
Het |
| Zfhx4 |
A |
T |
3: 5,401,733 |
E2317V |
probably damaging |
Het |
| Zfp345 |
A |
T |
2: 150,472,909 |
I236K |
probably benign |
Het |
|
| Other mutations in Synj1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Synj1
|
APN |
16 |
90951976 |
missense |
probably damaging |
1.00 |
|
IGL01468:Synj1
|
APN |
16 |
91010172 |
splice site |
probably benign |
|
|
IGL02209:Synj1
|
APN |
16 |
90987419 |
missense |
probably damaging |
0.97 |
|
IGL02452:Synj1
|
APN |
16 |
90961365 |
splice site |
probably benign |
|
|
IGL02619:Synj1
|
APN |
16 |
90974045 |
missense |
probably damaging |
1.00 |
|
IGL02650:Synj1
|
APN |
16 |
90976696 |
missense |
probably benign |
0.03 |
|
IGL02708:Synj1
|
APN |
16 |
90991462 |
missense |
probably damaging |
1.00 |
|
IGL02863:Synj1
|
APN |
16 |
90961434 |
missense |
possibly damaging |
0.94 |
|
IGL03131:Synj1
|
APN |
16 |
90988168 |
missense |
probably damaging |
0.99 |
|
IGL03295:Synj1
|
APN |
16 |
90938430 |
missense |
probably benign |
0.14 |
|
IGL03356:Synj1
|
APN |
16 |
90987392 |
missense |
probably damaging |
1.00 |
|
PIT1430001:Synj1
|
UTSW |
16 |
90964508 |
missense |
probably damaging |
1.00 |
|
R0179:Synj1
|
UTSW |
16 |
90964631 |
missense |
possibly damaging |
0.80 |
|
R0396:Synj1
|
UTSW |
16 |
90938640 |
missense |
probably benign |
|
|
R0426:Synj1
|
UTSW |
16 |
90967354 |
missense |
probably damaging |
1.00 |
|
R0486:Synj1
|
UTSW |
16 |
90938263 |
utr 3 prime |
probably benign |
|
|
R0515:Synj1
|
UTSW |
16 |
90994022 |
missense |
possibly damaging |
0.93 |
|
R0535:Synj1
|
UTSW |
16 |
90948087 |
missense |
possibly damaging |
0.80 |
|
R0698:Synj1
|
UTSW |
16 |
90960615 |
missense |
probably benign |
0.44 |
|
R0945:Synj1
|
UTSW |
16 |
90960445 |
missense |
possibly damaging |
0.90 |
|
R1327:Synj1
|
UTSW |
16 |
90946855 |
missense |
probably benign |
0.05 |
|
R1562:Synj1
|
UTSW |
16 |
90987402 |
missense |
probably benign |
0.09 |
|
R1732:Synj1
|
UTSW |
16 |
90964230 |
missense |
probably damaging |
0.99 |
|
R1752:Synj1
|
UTSW |
16 |
90938473 |
missense |
probably benign |
|
|
R1785:Synj1
|
UTSW |
16 |
90964517 |
missense |
probably damaging |
1.00 |
|
R1786:Synj1
|
UTSW |
16 |
90964517 |
missense |
probably damaging |
1.00 |
|
R2011:Synj1
|
UTSW |
16 |
90938696 |
missense |
probably damaging |
1.00 |
|
R2012:Synj1
|
UTSW |
16 |
90938696 |
missense |
probably damaging |
1.00 |
|
R2065:Synj1
|
UTSW |
16 |
90991649 |
critical splice acceptor site |
probably null |
|
|
R2862:Synj1
|
UTSW |
16 |
90969329 |
missense |
probably damaging |
1.00 |
|
R3026:Synj1
|
UTSW |
16 |
90978734 |
missense |
probably damaging |
1.00 |
|
R3151:Synj1
|
UTSW |
16 |
90960626 |
missense |
probably damaging |
0.96 |
|
R3946:Synj1
|
UTSW |
16 |
91010096 |
missense |
possibly damaging |
0.48 |
|
R3971:Synj1
|
UTSW |
16 |
90991603 |
missense |
probably damaging |
1.00 |
|
R4472:Synj1
|
UTSW |
16 |
90969181 |
critical splice donor site |
probably null |
|
|
R4547:Synj1
|
UTSW |
16 |
90988282 |
missense |
possibly damaging |
0.51 |
|
R4647:Synj1
|
UTSW |
16 |
90973989 |
missense |
probably damaging |
1.00 |
|
R4739:Synj1
|
UTSW |
16 |
90955419 |
missense |
probably benign |
0.00 |
|
R5027:Synj1
|
UTSW |
16 |
90940519 |
splice site |
probably null |
|
|
R5428:Synj1
|
UTSW |
16 |
90991518 |
missense |
probably damaging |
0.98 |
|
R5586:Synj1
|
UTSW |
16 |
91009977 |
intron |
probably benign |
|
|
R5769:Synj1
|
UTSW |
16 |
90938253 |
utr 3 prime |
probably benign |
|
|
R6005:Synj1
|
UTSW |
16 |
90969286 |
missense |
probably damaging |
1.00 |
|
R6119:Synj1
|
UTSW |
16 |
90938989 |
missense |
probably benign |
0.30 |
|
R6313:Synj1
|
UTSW |
16 |
90946815 |
missense |
probably benign |
0.00 |
|
R6324:Synj1
|
UTSW |
16 |
90938630 |
missense |
probably benign |
0.00 |
|
R6549:Synj1
|
UTSW |
16 |
90938677 |
missense |
probably benign |
|
|
R6696:Synj1
|
UTSW |
16 |
90960452 |
missense |
probably damaging |
0.98 |
|
R6698:Synj1
|
UTSW |
16 |
90960452 |
missense |
probably damaging |
0.98 |
|
R6861:Synj1
|
UTSW |
16 |
90963880 |
nonsense |
probably null |
|
|
R7008:Synj1
|
UTSW |
16 |
90993945 |
missense |
probably damaging |
1.00 |
|
R7153:Synj1
|
UTSW |
16 |
90948090 |
missense |
probably benign |
0.04 |
|
R7393:Synj1
|
UTSW |
16 |
90951999 |
missense |
probably damaging |
0.99 |
|
R7510:Synj1
|
UTSW |
16 |
90938677 |
missense |
probably benign |
|
|
R7560:Synj1
|
UTSW |
16 |
90940483 |
missense |
probably benign |
|
|
R7724:Synj1
|
UTSW |
16 |
90961499 |
missense |
probably damaging |
0.99 |
|
R7913:Synj1
|
UTSW |
16 |
90991427 |
missense |
possibly damaging |
0.83 |
|
R8326:Synj1
|
UTSW |
16 |
90988196 |
missense |
probably benign |
0.12 |
|
R8707:Synj1
|
UTSW |
16 |
90955431 |
missense |
probably benign |
0.02 |
|
R8711:Synj1
|
UTSW |
16 |
91010083 |
missense |
probably damaging |
0.98 |
|
R8767:Synj1
|
UTSW |
16 |
90961518 |
missense |
probably damaging |
1.00 |
|
R8911:Synj1
|
UTSW |
16 |
90978734 |
missense |
probably damaging |
1.00 |
|
R9052:Synj1
|
UTSW |
16 |
90938840 |
missense |
probably benign |
0.00 |
|
R9124:Synj1
|
UTSW |
16 |
90938625 |
missense |
probably benign |
0.00 |
|
R9307:Synj1
|
UTSW |
16 |
90988207 |
missense |
probably damaging |
0.98 |
|
R9408:Synj1
|
UTSW |
16 |
90944852 |
missense |
probably benign |
0.27 |
|
R9458:Synj1
|
UTSW |
16 |
90969312 |
missense |
probably benign |
0.05 |
|
R9567:Synj1
|
UTSW |
16 |
90994024 |
missense |
possibly damaging |
0.79 |
|
R9651:Synj1
|
UTSW |
16 |
90938524 |
missense |
probably benign |
0.00 |
|
R9651:Synj1
|
UTSW |
16 |
90960455 |
missense |
possibly damaging |
0.56 |
|
R9707:Synj1
|
UTSW |
16 |
90961412 |
missense |
possibly damaging |
0.91 |
|
R9730:Synj1
|
UTSW |
16 |
90960664 |
missense |
probably damaging |
0.98 |
|
R9732:Synj1
|
UTSW |
16 |
90964526 |
missense |
probably damaging |
1.00 |
|
Z1176:Synj1
|
UTSW |
16 |
90987340 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATTGAGACCAGCACTGTGCC -3'
(R):5'- CTCAGACTGCTGAAGGTTCCAGAAG -3'
Sequencing Primer
(F):5'- ACCAGCACTGTGCCATCTG -3'
(R):5'- CTGAAGGTTCCAGAAGGAAGTAG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation