Incidental Mutation 'IGL02752:Pacsin1'
ID |
304252 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pacsin1
|
Ensembl Gene |
ENSMUSG00000040276 |
Gene Name |
protein kinase C and casein kinase substrate in neurons 1 |
Synonyms |
A830061D09Rik, Syndapin I |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
IGL02752
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
27874565-27930092 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 27921672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155999
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045896]
[ENSMUST00000097360]
[ENSMUST00000114872]
[ENSMUST00000114873]
[ENSMUST00000231236]
[ENSMUST00000231669]
[ENSMUST00000232437]
|
AlphaFold |
Q61644 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045896
|
SMART Domains |
Protein: ENSMUSP00000044168 Gene: ENSMUSG00000040276
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
1.53e-29 |
SMART |
low complexity region
|
144 |
156 |
N/A |
INTRINSIC |
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
SH3
|
385 |
441 |
8.11e-17 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000097360
|
SMART Domains |
Protein: ENSMUSP00000094973 Gene: ENSMUSG00000040276
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
1.53e-29 |
SMART |
low complexity region
|
144 |
156 |
N/A |
INTRINSIC |
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
SH3
|
385 |
441 |
8.11e-17 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114872
|
SMART Domains |
Protein: ENSMUSP00000110522 Gene: ENSMUSG00000040276
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
1.53e-29 |
SMART |
low complexity region
|
144 |
156 |
N/A |
INTRINSIC |
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
SH3
|
385 |
441 |
8.11e-17 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000114873
|
SMART Domains |
Protein: ENSMUSP00000110523 Gene: ENSMUSG00000040276
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
1.53e-29 |
SMART |
low complexity region
|
144 |
156 |
N/A |
INTRINSIC |
low complexity region
|
225 |
236 |
N/A |
INTRINSIC |
SH3
|
385 |
441 |
8.11e-17 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231236
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231854
|
Predicted Effect |
probably null
Transcript: ENSMUST00000231669
|
Predicted Effect |
probably null
Transcript: ENSMUST00000232437
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232225
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygotes for a gene trapped allele show altered type I interferon responses in plasmacytoid dendritic cells. Homozygotes for a null allele show impaired synaptic vesicle formation, synaptic transmission and neuronal network activity, and develop generalized seizures with tonic-clonic convulsions. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
C |
A |
15: 84,840,042 (GRCm39) |
E145* |
probably null |
Het |
Abca9 |
A |
G |
11: 110,018,194 (GRCm39) |
F1142S |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,973,806 (GRCm39) |
T2503A |
possibly damaging |
Het |
Bpi |
A |
G |
2: 158,104,344 (GRCm39) |
D149G |
probably damaging |
Het |
Cntnap5a |
A |
G |
1: 116,508,261 (GRCm39) |
T1258A |
probably benign |
Het |
Col4a3 |
A |
G |
1: 82,637,946 (GRCm39) |
D256G |
unknown |
Het |
Cul5 |
T |
C |
9: 53,546,278 (GRCm39) |
T338A |
probably damaging |
Het |
Efs |
A |
G |
14: 55,154,880 (GRCm39) |
V453A |
probably damaging |
Het |
Fbxw19 |
T |
A |
9: 109,323,709 (GRCm39) |
N89Y |
probably benign |
Het |
Fbxw8 |
A |
G |
5: 118,280,815 (GRCm39) |
F114S |
probably damaging |
Het |
Flnb |
A |
G |
14: 7,917,338 (GRCm38) |
I1606V |
probably benign |
Het |
Gpr158 |
A |
G |
2: 21,831,638 (GRCm39) |
T913A |
possibly damaging |
Het |
Gtf2f1 |
A |
T |
17: 57,316,682 (GRCm39) |
|
probably benign |
Het |
Gtf2ird1 |
T |
A |
5: 134,387,678 (GRCm39) |
*1059L |
probably null |
Het |
Hmgb4 |
T |
C |
4: 128,154,134 (GRCm39) |
K145E |
probably damaging |
Het |
Igf2bp2 |
T |
A |
16: 21,898,860 (GRCm39) |
M250L |
probably benign |
Het |
Igkv14-111 |
A |
G |
6: 68,233,561 (GRCm39) |
K21E |
probably benign |
Het |
Il6st |
C |
T |
13: 112,616,729 (GRCm39) |
T92I |
probably damaging |
Het |
Jak3 |
G |
T |
8: 72,135,595 (GRCm39) |
V581L |
possibly damaging |
Het |
Kank2 |
C |
T |
9: 21,706,329 (GRCm39) |
V230M |
probably damaging |
Het |
Kif1a |
G |
A |
1: 92,967,569 (GRCm39) |
A1123V |
possibly damaging |
Het |
Kpna4 |
T |
A |
3: 69,002,863 (GRCm39) |
R125* |
probably null |
Het |
Mybpc3 |
A |
T |
2: 90,962,982 (GRCm39) |
|
probably null |
Het |
Ntn4 |
T |
C |
10: 93,546,421 (GRCm39) |
V358A |
possibly damaging |
Het |
Pcsk2 |
A |
G |
2: 143,615,865 (GRCm39) |
N221S |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,254,262 (GRCm39) |
L575P |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,623,815 (GRCm39) |
V760E |
possibly damaging |
Het |
Plxnc1 |
T |
C |
10: 94,630,542 (GRCm39) |
|
probably null |
Het |
Ppfia1 |
T |
C |
7: 144,073,341 (GRCm39) |
T217A |
probably benign |
Het |
Rictor |
A |
G |
15: 6,816,852 (GRCm39) |
T1375A |
probably benign |
Het |
Scn1a |
A |
G |
2: 66,161,756 (GRCm39) |
I264T |
probably damaging |
Het |
Sez6l2 |
T |
C |
7: 126,552,905 (GRCm39) |
S164P |
probably damaging |
Het |
Slc31a1 |
C |
T |
4: 62,303,869 (GRCm39) |
|
probably benign |
Het |
Slc45a1 |
T |
C |
4: 150,722,478 (GRCm39) |
N469D |
probably benign |
Het |
Slco1a5 |
T |
C |
6: 142,208,438 (GRCm39) |
T76A |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Stfa3 |
G |
A |
16: 36,270,999 (GRCm39) |
T95I |
probably damaging |
Het |
Stk11ip |
A |
C |
1: 75,501,325 (GRCm39) |
|
probably null |
Het |
Tcn2 |
C |
A |
11: 3,876,158 (GRCm39) |
S90I |
possibly damaging |
Het |
Traf1 |
A |
G |
2: 34,848,020 (GRCm39) |
S25P |
probably benign |
Het |
Ttn |
G |
T |
2: 76,622,125 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,798,283 (GRCm39) |
I2041N |
probably damaging |
Het |
Zfp512b |
A |
T |
2: 181,229,864 (GRCm39) |
D556E |
possibly damaging |
Het |
Zfpm2 |
T |
A |
15: 40,965,415 (GRCm39) |
D633E |
probably benign |
Het |
|
Other mutations in Pacsin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01960:Pacsin1
|
APN |
17 |
27,923,809 (GRCm39) |
splice site |
probably null |
|
R1428:Pacsin1
|
UTSW |
17 |
27,924,937 (GRCm39) |
missense |
probably damaging |
1.00 |
R2332:Pacsin1
|
UTSW |
17 |
27,923,885 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4349:Pacsin1
|
UTSW |
17 |
27,925,978 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4664:Pacsin1
|
UTSW |
17 |
27,926,038 (GRCm39) |
missense |
probably damaging |
1.00 |
R5568:Pacsin1
|
UTSW |
17 |
27,927,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R5936:Pacsin1
|
UTSW |
17 |
27,923,971 (GRCm39) |
missense |
probably benign |
0.16 |
R5943:Pacsin1
|
UTSW |
17 |
27,925,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R6277:Pacsin1
|
UTSW |
17 |
27,924,969 (GRCm39) |
splice site |
probably null |
|
R6284:Pacsin1
|
UTSW |
17 |
27,927,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R6376:Pacsin1
|
UTSW |
17 |
27,926,879 (GRCm39) |
missense |
probably benign |
0.33 |
R7134:Pacsin1
|
UTSW |
17 |
27,921,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7972:Pacsin1
|
UTSW |
17 |
27,927,613 (GRCm39) |
missense |
unknown |
|
R8141:Pacsin1
|
UTSW |
17 |
27,926,034 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9263:Pacsin1
|
UTSW |
17 |
27,923,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R9316:Pacsin1
|
UTSW |
17 |
27,924,707 (GRCm39) |
missense |
possibly damaging |
0.77 |
R9414:Pacsin1
|
UTSW |
17 |
27,926,985 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Pacsin1
|
UTSW |
17 |
27,927,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |