Incidental Mutation 'IGL01152:Pacsin3'
ID |
50657 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pacsin3
|
Ensembl Gene |
ENSMUSG00000027257 |
Gene Name |
protein kinase C and casein kinase substrate in neurons 3 |
Synonyms |
6330413E15Rik, 4921507A02Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01152
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91086299-91095024 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91094121 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 350
(D350G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028691]
[ENSMUST00000028694]
[ENSMUST00000059566]
[ENSMUST00000080008]
[ENSMUST00000111349]
[ENSMUST00000144394]
[ENSMUST00000156919]
[ENSMUST00000154959]
[ENSMUST00000131711]
[ENSMUST00000134699]
[ENSMUST00000138470]
[ENSMUST00000168916]
|
AlphaFold |
Q99JB8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028691
|
SMART Domains |
Protein: ENSMUSP00000028691 Gene: ENSMUSG00000027255
Domain | Start | End | E-Value | Type |
ArfGap
|
11 |
125 |
1.46e-44 |
SMART |
low complexity region
|
227 |
246 |
N/A |
INTRINSIC |
coiled coil region
|
254 |
321 |
N/A |
INTRINSIC |
low complexity region
|
323 |
335 |
N/A |
INTRINSIC |
Blast:ArfGap
|
370 |
434 |
6e-32 |
BLAST |
low complexity region
|
468 |
476 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028694
AA Change: D350G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028694 Gene: ENSMUSG00000027257 AA Change: D350G
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000059566
AA Change: D350G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000054391 Gene: ENSMUSG00000027257 AA Change: D350G
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000080008
|
SMART Domains |
Protein: ENSMUSP00000078920 Gene: ENSMUSG00000027255
Domain | Start | End | E-Value | Type |
ArfGap
|
11 |
125 |
1.46e-44 |
SMART |
low complexity region
|
213 |
232 |
N/A |
INTRINSIC |
coiled coil region
|
240 |
307 |
N/A |
INTRINSIC |
low complexity region
|
309 |
321 |
N/A |
INTRINSIC |
internal_repeat_1
|
333 |
376 |
9.77e-5 |
PROSPERO |
low complexity region
|
454 |
462 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111349
AA Change: D350G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000106981 Gene: ENSMUSG00000027257 AA Change: D350G
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124658
|
Predicted Effect |
unknown
Transcript: ENSMUST00000128684
AA Change: D74G
|
SMART Domains |
Protein: ENSMUSP00000118915 Gene: ENSMUSG00000027257 AA Change: D74G
Domain | Start | End | E-Value | Type |
PDB:3SYV|H
|
2 |
61 |
3e-37 |
PDB |
low complexity region
|
62 |
74 |
N/A |
INTRINSIC |
SCOP:d1k4us_
|
86 |
112 |
6e-7 |
SMART |
PDB:2X3X|E
|
88 |
112 |
7e-7 |
PDB |
Blast:SH3
|
91 |
112 |
1e-6 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150701
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126754
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144394
|
SMART Domains |
Protein: ENSMUSP00000121297 Gene: ENSMUSG00000027257
Domain | Start | End | E-Value | Type |
FCH
|
14 |
95 |
4.88e-14 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156919
|
SMART Domains |
Protein: ENSMUSP00000122779 Gene: ENSMUSG00000027257
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154959
|
SMART Domains |
Protein: ENSMUSP00000122769 Gene: ENSMUSG00000027257
Domain | Start | End | E-Value | Type |
Pfam:FCH
|
14 |
64 |
2.3e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131711
|
SMART Domains |
Protein: ENSMUSP00000117214 Gene: ENSMUSG00000027257
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134699
|
SMART Domains |
Protein: ENSMUSP00000115046 Gene: ENSMUSG00000027257
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138470
|
SMART Domains |
Protein: ENSMUSP00000117230 Gene: ENSMUSG00000027257
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168916
AA Change: D350G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129175 Gene: ENSMUSG00000027257 AA Change: D350G
Domain | Start | End | E-Value | Type |
FCH
|
14 |
102 |
2.05e-21 |
SMART |
low complexity region
|
337 |
349 |
N/A |
INTRINSIC |
SH3
|
366 |
423 |
1.03e-18 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protein kinase C and casein kinase substrate in neurons family. The encoded protein is involved in linking the actin cytoskeleton with vesicle formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
T |
G |
1: 192,515,947 (GRCm39) |
|
noncoding transcript |
Het |
Abcb4 |
G |
A |
5: 9,000,678 (GRCm39) |
V1031M |
probably benign |
Het |
Abcc4 |
A |
G |
14: 118,836,797 (GRCm39) |
S655P |
probably damaging |
Het |
Actn1 |
T |
C |
12: 80,245,820 (GRCm39) |
K121R |
probably damaging |
Het |
Aldh1l2 |
T |
A |
10: 83,358,750 (GRCm39) |
R82* |
probably null |
Het |
Arhgap31 |
T |
A |
16: 38,422,601 (GRCm39) |
H1155L |
possibly damaging |
Het |
Atp8a1 |
G |
T |
5: 68,004,549 (GRCm39) |
P2Q |
probably damaging |
Het |
Bcs1l |
A |
G |
1: 74,631,174 (GRCm39) |
M401V |
possibly damaging |
Het |
Brca2 |
A |
T |
5: 150,465,855 (GRCm39) |
N1873I |
probably damaging |
Het |
Cenpj |
T |
C |
14: 56,789,757 (GRCm39) |
N764S |
probably benign |
Het |
Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
Clk1 |
A |
T |
1: 58,452,611 (GRCm39) |
C359S |
possibly damaging |
Het |
Clk2 |
T |
A |
3: 89,083,818 (GRCm39) |
F479I |
probably damaging |
Het |
Cul4b |
T |
C |
X: 37,632,247 (GRCm39) |
M709V |
probably damaging |
Het |
D130052B06Rik |
G |
T |
11: 33,573,620 (GRCm39) |
|
probably null |
Het |
Dgkb |
T |
A |
12: 38,134,233 (GRCm39) |
N46K |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,962,882 (GRCm39) |
R1811H |
probably damaging |
Het |
Dnajc18 |
T |
C |
18: 35,813,926 (GRCm39) |
N281S |
probably benign |
Het |
Galnt5 |
A |
T |
2: 57,915,405 (GRCm39) |
I654L |
probably benign |
Het |
Gm9989 |
T |
G |
3: 81,829,518 (GRCm39) |
|
noncoding transcript |
Het |
Gpr179 |
T |
C |
11: 97,228,237 (GRCm39) |
E1306G |
probably benign |
Het |
Gsc |
C |
A |
12: 104,437,864 (GRCm39) |
K219N |
probably damaging |
Het |
Gsx2 |
A |
T |
5: 75,236,452 (GRCm39) |
I11F |
probably damaging |
Het |
Igdcc4 |
A |
C |
9: 65,042,446 (GRCm39) |
E121A |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,084,425 (GRCm39) |
R915H |
probably benign |
Het |
Large2 |
A |
G |
2: 92,200,984 (GRCm39) |
L64P |
probably damaging |
Het |
Lztr1 |
C |
A |
16: 17,340,317 (GRCm39) |
Q136K |
probably damaging |
Het |
Mageb18 |
A |
G |
X: 91,163,430 (GRCm39) |
W271R |
possibly damaging |
Het |
Magoh |
A |
C |
4: 107,742,203 (GRCm39) |
|
probably benign |
Het |
Matcap2 |
A |
T |
9: 22,346,460 (GRCm39) |
H356L |
probably benign |
Het |
Mrgprx1 |
T |
C |
7: 47,671,234 (GRCm39) |
H171R |
probably benign |
Het |
Muc1 |
C |
A |
3: 89,138,061 (GRCm39) |
T301K |
probably benign |
Het |
Nbas |
C |
T |
12: 13,410,959 (GRCm39) |
L868F |
probably damaging |
Het |
Nwd2 |
A |
G |
5: 63,963,872 (GRCm39) |
D1152G |
possibly damaging |
Het |
Or5p68 |
C |
T |
7: 107,946,156 (GRCm39) |
A11T |
probably benign |
Het |
Or7d10 |
G |
A |
9: 19,832,245 (GRCm39) |
V247M |
possibly damaging |
Het |
Ovgp1 |
T |
A |
3: 105,893,488 (GRCm39) |
D420E |
possibly damaging |
Het |
Pcolce2 |
A |
T |
9: 95,574,976 (GRCm39) |
N309Y |
probably damaging |
Het |
Pim2 |
C |
A |
X: 7,744,661 (GRCm39) |
|
probably benign |
Het |
Plcb1 |
A |
G |
2: 134,655,579 (GRCm39) |
Y53C |
probably damaging |
Het |
Pogk |
T |
C |
1: 166,236,047 (GRCm39) |
E18G |
probably damaging |
Het |
Pxdn |
T |
A |
12: 30,051,936 (GRCm39) |
D704E |
probably damaging |
Het |
Rb1 |
C |
A |
14: 73,443,310 (GRCm39) |
S781I |
probably damaging |
Het |
Rnpepl1 |
A |
G |
1: 92,843,621 (GRCm39) |
H247R |
possibly damaging |
Het |
Scube1 |
A |
T |
15: 83,497,771 (GRCm39) |
F697I |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,273,675 (GRCm39) |
H1064N |
probably damaging |
Het |
Serinc3 |
A |
G |
2: 163,478,831 (GRCm39) |
Y99H |
probably damaging |
Het |
Slc36a2 |
T |
A |
11: 55,060,673 (GRCm39) |
|
probably benign |
Het |
Smarcc1 |
A |
C |
9: 109,968,693 (GRCm39) |
E130A |
possibly damaging |
Het |
Strc |
A |
G |
2: 121,201,276 (GRCm39) |
M1273T |
probably benign |
Het |
Tmem116 |
A |
G |
5: 121,601,862 (GRCm39) |
I21V |
probably benign |
Het |
Tmem190 |
T |
C |
7: 4,787,025 (GRCm39) |
|
probably benign |
Het |
Trim63 |
C |
T |
4: 134,052,987 (GRCm39) |
A316V |
probably benign |
Het |
Ugt2b34 |
T |
C |
5: 87,049,062 (GRCm39) |
E321G |
probably damaging |
Het |
Zfat |
T |
A |
15: 67,982,353 (GRCm39) |
R1053S |
probably damaging |
Het |
|
Other mutations in Pacsin3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03071:Pacsin3
|
APN |
2 |
91,090,837 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03149:Pacsin3
|
APN |
2 |
91,091,852 (GRCm39) |
splice site |
probably benign |
|
pacifica
|
UTSW |
2 |
91,093,286 (GRCm39) |
splice site |
probably null |
|
R1179:Pacsin3
|
UTSW |
2 |
91,094,205 (GRCm39) |
missense |
probably damaging |
1.00 |
R1765:Pacsin3
|
UTSW |
2 |
91,093,460 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3927:Pacsin3
|
UTSW |
2 |
91,093,286 (GRCm39) |
splice site |
probably null |
|
R4472:Pacsin3
|
UTSW |
2 |
91,093,288 (GRCm39) |
splice site |
probably null |
|
R5699:Pacsin3
|
UTSW |
2 |
91,093,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R5721:Pacsin3
|
UTSW |
2 |
91,094,580 (GRCm39) |
missense |
probably damaging |
1.00 |
R5732:Pacsin3
|
UTSW |
2 |
91,090,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R6213:Pacsin3
|
UTSW |
2 |
91,090,779 (GRCm39) |
missense |
probably damaging |
1.00 |
R6449:Pacsin3
|
UTSW |
2 |
91,090,514 (GRCm39) |
critical splice acceptor site |
probably null |
|
R6541:Pacsin3
|
UTSW |
2 |
91,093,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R6834:Pacsin3
|
UTSW |
2 |
91,093,180 (GRCm39) |
missense |
probably damaging |
1.00 |
R8513:Pacsin3
|
UTSW |
2 |
91,093,150 (GRCm39) |
missense |
probably benign |
0.00 |
R9060:Pacsin3
|
UTSW |
2 |
91,091,557 (GRCm39) |
missense |
probably benign |
0.00 |
R9772:Pacsin3
|
UTSW |
2 |
91,093,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R9792:Pacsin3
|
UTSW |
2 |
91,094,160 (GRCm39) |
missense |
probably benign |
|
R9793:Pacsin3
|
UTSW |
2 |
91,094,160 (GRCm39) |
missense |
probably benign |
|
R9795:Pacsin3
|
UTSW |
2 |
91,094,160 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-06-21 |