Incidental Mutation 'R7393:Synj1'
ID |
573622 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Synj1
|
Ensembl Gene |
ENSMUSG00000022973 |
Gene Name |
synaptojanin 1 |
Synonyms |
A930006D20Rik |
MMRRC Submission |
045475-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7393 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
90732980-90808196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 90748887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1056
(D1056E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000121759]
[ENSMUST00000170853]
|
AlphaFold |
no structure available at present |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000113518 Gene: ENSMUSG00000022973 AA Change: D1030E
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: D1056E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000113308 Gene: ENSMUSG00000022973 AA Change: D1056E
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: ENSMUST00000125032
|
SMART Domains |
Protein: ENSMUSP00000120399 Gene: ENSMUSG00000022973
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 |
probably benign
Transcript: ENSMUST00000154276
|
SMART Domains |
Protein: ENSMUSP00000122675 Gene: ENSMUSG00000022973
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 damaging
Transcript: ENSMUST00000170853
AA Change: D1016E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000128997 Gene: ENSMUSG00000022973 AA Change: D1016E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
T |
2: 69,130,211 (GRCm39) |
D282N |
probably damaging |
Het |
Abi2 |
T |
C |
1: 60,473,541 (GRCm39) |
M86T |
possibly damaging |
Het |
Adam26a |
T |
C |
8: 44,022,725 (GRCm39) |
N255S |
probably benign |
Het |
Adam4 |
G |
A |
12: 81,466,434 (GRCm39) |
S729L |
probably benign |
Het |
Adcy1 |
G |
T |
11: 7,087,381 (GRCm39) |
W418C |
probably damaging |
Het |
Add2 |
T |
A |
6: 86,075,629 (GRCm39) |
Y259* |
probably null |
Het |
Agl |
A |
T |
3: 116,584,805 (GRCm39) |
C172S |
probably benign |
Het |
Ankfy1 |
A |
G |
11: 72,629,134 (GRCm39) |
T319A |
possibly damaging |
Het |
Armc8 |
A |
T |
9: 99,366,052 (GRCm39) |
C621S |
possibly damaging |
Het |
Atp5mj |
A |
G |
12: 111,929,711 (GRCm39) |
V26A |
probably benign |
Het |
Bbc3 |
A |
G |
7: 16,047,714 (GRCm39) |
D146G |
probably benign |
Het |
Btnl10 |
T |
C |
11: 58,814,532 (GRCm39) |
L404P |
probably damaging |
Het |
Cbl |
A |
G |
9: 44,065,485 (GRCm39) |
|
probably null |
Het |
Ccdc170 |
T |
A |
10: 4,464,314 (GRCm39) |
|
probably null |
Het |
Ccdc91 |
T |
A |
6: 147,435,527 (GRCm39) |
V37E |
possibly damaging |
Het |
Ces1e |
G |
T |
8: 93,937,045 (GRCm39) |
T343K |
probably benign |
Het |
Chfr |
T |
A |
5: 110,300,224 (GRCm39) |
F323I |
probably damaging |
Het |
Clcnkb |
T |
A |
4: 141,136,756 (GRCm39) |
M370L |
probably benign |
Het |
Col11a1 |
A |
G |
3: 113,890,755 (GRCm39) |
D364G |
unknown |
Het |
Ctbp2 |
A |
G |
7: 132,590,021 (GRCm39) |
I381T |
probably benign |
Het |
Cyp4a29 |
A |
C |
4: 115,099,393 (GRCm39) |
Y38S |
probably damaging |
Het |
Ddx1 |
T |
C |
12: 13,280,354 (GRCm39) |
D382G |
probably benign |
Het |
Dhx57 |
T |
A |
17: 80,563,000 (GRCm39) |
N876Y |
probably damaging |
Het |
Dsel |
C |
T |
1: 111,789,303 (GRCm39) |
G411S |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,435,598 (GRCm39) |
D262G |
probably benign |
Het |
Fnbp4 |
C |
A |
2: 90,609,660 (GRCm39) |
Q1035K |
probably damaging |
Het |
Gbp11 |
T |
A |
5: 105,475,443 (GRCm39) |
N302Y |
possibly damaging |
Het |
Gm11554 |
T |
A |
11: 99,694,698 (GRCm39) |
T172S |
unknown |
Het |
Hamp2 |
A |
T |
7: 30,622,030 (GRCm39) |
M53K |
possibly damaging |
Het |
Kcnj1 |
A |
G |
9: 32,308,314 (GRCm39) |
D246G |
probably damaging |
Het |
Kctd20 |
T |
C |
17: 29,182,312 (GRCm39) |
F209L |
probably damaging |
Het |
Klra2 |
T |
C |
6: 131,207,165 (GRCm39) |
Y148C |
probably damaging |
Het |
Krtap15-1 |
T |
C |
16: 88,625,985 (GRCm39) |
|
probably null |
Het |
Mrps23 |
T |
C |
11: 88,095,284 (GRCm39) |
L6P |
probably damaging |
Het |
Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
Myo7a |
G |
A |
7: 97,712,906 (GRCm39) |
R1690C |
possibly damaging |
Het |
Nbas |
T |
C |
12: 13,443,493 (GRCm39) |
S1183P |
probably damaging |
Het |
Ndufaf4 |
T |
A |
4: 24,903,177 (GRCm39) |
M122K |
probably benign |
Het |
Nop2 |
C |
A |
6: 125,110,509 (GRCm39) |
S45* |
probably null |
Het |
Nop56 |
T |
A |
2: 130,116,558 (GRCm39) |
L3Q |
probably benign |
Het |
Nrp2 |
T |
C |
1: 62,784,583 (GRCm39) |
I244T |
probably damaging |
Het |
Or4d10c |
T |
A |
19: 12,065,992 (GRCm39) |
T55S |
probably benign |
Het |
Or51v14 |
A |
G |
7: 103,261,198 (GRCm39) |
S121P |
possibly damaging |
Het |
Otof |
T |
C |
5: 30,527,614 (GRCm39) |
D1941G |
probably benign |
Het |
Pcyox1l |
T |
C |
18: 61,830,712 (GRCm39) |
K387E |
probably benign |
Het |
Plcg2 |
A |
G |
8: 118,306,564 (GRCm39) |
Y306C |
possibly damaging |
Het |
Ppp1r13b |
G |
A |
12: 111,805,188 (GRCm39) |
P333S |
probably damaging |
Het |
Rcc2 |
A |
G |
4: 140,444,341 (GRCm39) |
D344G |
probably damaging |
Het |
Reln |
A |
T |
5: 22,181,349 (GRCm39) |
N1810K |
probably damaging |
Het |
Rfesd |
G |
T |
13: 76,151,149 (GRCm39) |
A90E |
probably benign |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
Scg2 |
T |
C |
1: 79,412,948 (GRCm39) |
K552E |
probably damaging |
Het |
Sdccag8 |
A |
G |
1: 176,667,872 (GRCm39) |
I190V |
probably benign |
Het |
Sele |
C |
A |
1: 163,881,492 (GRCm39) |
T533K |
probably benign |
Het |
Sh3bp4 |
T |
A |
1: 89,072,170 (GRCm39) |
H339Q |
possibly damaging |
Het |
Slc6a19 |
A |
G |
13: 73,841,093 (GRCm39) |
S106P |
probably benign |
Het |
Spidr |
C |
T |
16: 15,964,695 (GRCm39) |
|
probably benign |
Het |
Stk36 |
A |
T |
1: 74,650,352 (GRCm39) |
K295* |
probably null |
Het |
Tnks1bp1 |
T |
C |
2: 84,893,210 (GRCm39) |
S1046P |
probably benign |
Het |
Ttc27 |
T |
G |
17: 75,077,259 (GRCm39) |
F385V |
possibly damaging |
Het |
Ttn |
C |
A |
2: 76,774,689 (GRCm39) |
G2164W |
unknown |
Het |
Ubap1 |
T |
A |
4: 41,379,764 (GRCm39) |
L326* |
probably null |
Het |
Ubr4 |
A |
G |
4: 139,154,096 (GRCm39) |
N812S |
probably damaging |
Het |
Vmn1r160 |
A |
G |
7: 22,570,778 (GRCm39) |
T44A |
possibly damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,574 (GRCm39) |
S139N |
possibly damaging |
Het |
Vmn2r116 |
A |
G |
17: 23,605,099 (GRCm39) |
I137M |
probably benign |
Het |
Vmn2r67 |
A |
T |
7: 84,805,086 (GRCm39) |
W9R |
probably null |
Het |
Zfp101 |
T |
C |
17: 33,605,674 (GRCm39) |
N45D |
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 |
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'- GAGGTCCTGGAGTTCTTGAC -3'
(R):5'- CTTTCAGTCACGCAAGCTCC -3'
Sequencing Primer
(F):5'- CCTGGAGTTCTTGACGGTGC -3'
(R):5'- GCTGAAGGAATGGATCTTTAGACTC -3'
|
Posted On |
2019-09-13 |