Incidental Mutation 'R9307:Synj1'
| ID |
705298 |
| 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 # |
R9307 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90785095 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 254
(T254A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121759]
[ENSMUST00000130813]
[ENSMUST00000170853]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: T228A
| 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: T254A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: T254A
| 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: T214A
PolyPhen 2
Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119712
Gene: ENSMUSG00000022973
AA Change: T214A
| 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: T214A
PolyPhen 2
Score 0.676 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: T214A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
C |
3: 137,771,183 (GRCm39) |
D124A |
probably benign |
Het |
| Acd |
T |
C |
8: 106,425,514 (GRCm39) |
D273G |
probably damaging |
Het |
| Acte1 |
G |
T |
7: 143,434,902 (GRCm39) |
|
probably null |
Het |
| Adam15 |
T |
C |
3: 89,254,790 (GRCm39) |
D90G |
possibly damaging |
Het |
| Adam2 |
A |
T |
14: 66,287,921 (GRCm39) |
C392S |
probably damaging |
Het |
| Adam23 |
T |
A |
1: 63,576,131 (GRCm39) |
N304K |
probably damaging |
Het |
| Adam34l |
A |
C |
8: 44,079,304 (GRCm39) |
F307V |
probably benign |
Het |
| Aldh3b3 |
T |
C |
19: 4,013,882 (GRCm39) |
F28L |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,992,993 (GRCm39) |
S920P |
probably benign |
Het |
| Btc |
A |
G |
5: 91,550,515 (GRCm39) |
|
probably null |
Het |
| Chchd2 |
A |
T |
5: 129,916,054 (GRCm39) |
V12E |
probably benign |
Het |
| Chia1 |
A |
G |
3: 106,035,991 (GRCm39) |
|
probably benign |
Het |
| Chil4 |
A |
T |
3: 106,111,382 (GRCm39) |
|
probably null |
Het |
| Clock |
A |
G |
5: 76,364,671 (GRCm39) |
F815L |
unknown |
Het |
| Cmtr2 |
C |
T |
8: 110,949,712 (GRCm39) |
T674M |
probably benign |
Het |
| Cnbd1 |
A |
C |
4: 18,887,647 (GRCm39) |
I289R |
probably damaging |
Het |
| Cog2 |
A |
T |
8: 125,253,837 (GRCm39) |
|
probably null |
Het |
| Col13a1 |
T |
C |
10: 61,703,248 (GRCm39) |
I454V |
unknown |
Het |
| Cyct |
T |
A |
2: 76,184,457 (GRCm39) |
Y98F |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,227,236 (GRCm39) |
E297G |
possibly damaging |
Het |
| Dgka |
T |
C |
10: 128,567,046 (GRCm39) |
H271R |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,976,300 (GRCm39) |
I1250F |
probably benign |
Het |
| Dock4 |
T |
C |
12: 40,686,155 (GRCm39) |
L130P |
probably damaging |
Het |
| Dpyd |
G |
A |
3: 119,108,560 (GRCm39) |
V868I |
probably benign |
Het |
| Dync1li1 |
T |
A |
9: 114,535,076 (GRCm39) |
D113E |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,932,719 (GRCm39) |
K1405E |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,342,856 (GRCm39) |
C8R |
probably benign |
Het |
| Frmd4a |
A |
G |
2: 4,609,044 (GRCm39) |
M971V |
probably benign |
Het |
| Glyatl3 |
C |
T |
17: 41,223,553 (GRCm39) |
|
probably null |
Het |
| Grip1 |
A |
T |
10: 119,821,454 (GRCm39) |
H373L |
probably benign |
Het |
| Ins1 |
T |
C |
19: 52,253,258 (GRCm39) |
L66P |
possibly damaging |
Het |
| Kif21b |
A |
T |
1: 136,101,800 (GRCm39) |
I1616L |
probably benign |
Het |
| Map7d1 |
A |
G |
4: 126,128,024 (GRCm39) |
M637T |
unknown |
Het |
| Mc2r |
A |
T |
18: 68,540,636 (GRCm39) |
M219K |
probably benign |
Het |
| Mcpt1 |
A |
G |
14: 56,256,867 (GRCm39) |
D135G |
possibly damaging |
Het |
| Mturn |
T |
C |
6: 54,676,541 (GRCm39) |
|
probably null |
Het |
| Mutyh |
T |
A |
4: 116,674,074 (GRCm39) |
|
probably null |
Het |
| Myh3 |
A |
G |
11: 66,984,397 (GRCm39) |
D1078G |
possibly damaging |
Het |
| Or4d5 |
T |
C |
9: 40,012,451 (GRCm39) |
I112V |
probably benign |
Het |
| Pcdha12 |
A |
G |
18: 37,153,874 (GRCm39) |
K198E |
probably damaging |
Het |
| Pcf11 |
A |
T |
7: 92,306,534 (GRCm39) |
N1211K |
possibly damaging |
Het |
| Piezo1 |
G |
A |
8: 123,213,832 (GRCm39) |
P1711S |
|
Het |
| Pkd1 |
T |
A |
17: 24,769,451 (GRCm39) |
L72Q |
possibly damaging |
Het |
| Pramel20 |
C |
A |
4: 143,299,314 (GRCm39) |
L326I |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,299,049 (GRCm39) |
D607G |
probably benign |
Het |
| R3hdml |
T |
C |
2: 163,344,372 (GRCm39) |
*254R |
probably null |
Het |
| Rasal3 |
TTGGACCTGAGTGGA |
TTGGA |
17: 32,612,502 (GRCm39) |
782 |
probably null |
Het |
| Relch |
A |
T |
1: 105,615,077 (GRCm39) |
Y272F |
probably benign |
Het |
| Rev3l |
C |
T |
10: 39,693,149 (GRCm39) |
P410S |
probably benign |
Het |
| Sec14l2 |
A |
G |
11: 4,068,665 (GRCm39) |
V5A |
probably benign |
Het |
| Slc12a3 |
A |
C |
8: 95,061,625 (GRCm39) |
I291L |
probably benign |
Het |
| Slc4a10 |
T |
C |
2: 62,083,662 (GRCm39) |
F372L |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,035,978 (GRCm39) |
W1095R |
probably damaging |
Het |
| Taar2 |
T |
C |
10: 23,817,237 (GRCm39) |
F259S |
probably damaging |
Het |
| Tns2 |
C |
A |
15: 102,018,996 (GRCm39) |
L396I |
probably damaging |
Het |
| Tom1l1 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTG |
11: 90,540,648 (GRCm39) |
|
probably benign |
Het |
| Traf5 |
T |
C |
1: 191,747,033 (GRCm39) |
D96G |
probably damaging |
Het |
| Trgv3 |
A |
G |
13: 19,427,441 (GRCm39) |
E108G |
probably damaging |
Het |
| Trpv6 |
A |
G |
6: 41,602,378 (GRCm39) |
V336A |
probably benign |
Het |
| Usp45 |
A |
T |
4: 21,824,998 (GRCm39) |
L583F |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,554,475 (GRCm39) |
D1538G |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,990,072 (GRCm39) |
H206L |
probably damaging |
Het |
| Zfp51 |
T |
A |
17: 21,684,733 (GRCm39) |
H449Q |
probably benign |
Het |
| Zfp653 |
G |
A |
9: 21,969,321 (GRCm39) |
S315F |
possibly 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 |
|
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 |
|
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'- TTCTTAAGGCCCATAAGTAGTCAAG -3'
(R):5'- TCCCATAGGAATCAGTCTCTGC -3'
Sequencing Primer
(F):5'- GTATTTGCAAACTCCAGGTAGC -3'
(R):5'- GCATTTGCATCTCAAGCACTATGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation