Incidental Mutation 'IGL03149:Pacsin3'
ID |
411047 |
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 # |
IGL03149
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
91086299-91095024 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 91091852 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028691]
[ENSMUST00000028694]
[ENSMUST00000059566]
[ENSMUST00000080008]
[ENSMUST00000111349]
[ENSMUST00000168916]
[ENSMUST00000134699]
[ENSMUST00000138470]
[ENSMUST00000156919]
[ENSMUST00000131711]
[ENSMUST00000144394]
[ENSMUST00000154959]
|
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
|
SMART Domains |
Protein: ENSMUSP00000028694 Gene: ENSMUSG00000027257
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
|
SMART Domains |
Protein: ENSMUSP00000054391 Gene: ENSMUSG00000027257
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
|
SMART Domains |
Protein: ENSMUSP00000106981 Gene: ENSMUSG00000027257
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 |
noncoding transcript
Transcript: ENSMUST00000126754
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168916
|
SMART Domains |
Protein: ENSMUSP00000129175 Gene: ENSMUSG00000027257
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: 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 |
noncoding transcript
Transcript: ENSMUST00000128296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150753
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141313
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150701
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143883
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128684
|
SMART Domains |
Protein: ENSMUSP00000118915 Gene: ENSMUSG00000027257
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 |
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: 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: 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: ENSMUST00000154959
|
SMART Domains |
Protein: ENSMUSP00000122769 Gene: ENSMUSG00000027257
Domain | Start | End | E-Value | Type |
Pfam:FCH
|
14 |
64 |
2.3e-15 |
PFAM |
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap10 |
A |
G |
8: 78,136,167 (GRCm39) |
|
probably benign |
Het |
Arhgap42 |
A |
G |
9: 9,008,085 (GRCm39) |
I546T |
possibly damaging |
Het |
Arsj |
A |
T |
3: 126,233,053 (GRCm39) |
|
probably benign |
Het |
Ash2l |
A |
G |
8: 26,308,650 (GRCm39) |
V543A |
probably benign |
Het |
B4galnt3 |
A |
G |
6: 120,208,555 (GRCm39) |
|
probably benign |
Het |
Blvra |
T |
A |
2: 126,924,871 (GRCm39) |
V11E |
probably damaging |
Het |
Calcb |
T |
C |
7: 114,319,371 (GRCm39) |
L51P |
probably damaging |
Het |
Cd36 |
T |
A |
5: 18,025,563 (GRCm39) |
K52N |
probably benign |
Het |
Cebpz |
T |
C |
17: 79,229,982 (GRCm39) |
N857S |
probably benign |
Het |
Ces1b |
A |
G |
8: 93,791,502 (GRCm39) |
|
probably benign |
Het |
Clspn |
T |
C |
4: 126,470,295 (GRCm39) |
|
probably benign |
Het |
Cr2 |
A |
T |
1: 194,848,674 (GRCm39) |
L283H |
probably damaging |
Het |
Ctc1 |
T |
C |
11: 68,921,987 (GRCm39) |
V811A |
possibly damaging |
Het |
Ctsk |
T |
C |
3: 95,408,730 (GRCm39) |
S65P |
possibly damaging |
Het |
Ddx51 |
A |
G |
5: 110,801,600 (GRCm39) |
N83D |
probably benign |
Het |
Eci2 |
T |
C |
13: 35,172,296 (GRCm39) |
T146A |
probably benign |
Het |
Erbin |
T |
C |
13: 103,977,671 (GRCm39) |
N629D |
possibly damaging |
Het |
Etfbkmt |
A |
G |
6: 149,045,781 (GRCm39) |
E45G |
probably damaging |
Het |
Fat4 |
A |
G |
3: 39,045,834 (GRCm39) |
N3951S |
probably damaging |
Het |
Fktn |
T |
C |
4: 53,744,653 (GRCm39) |
V311A |
probably benign |
Het |
Garem1 |
G |
T |
18: 21,264,523 (GRCm39) |
P534T |
probably damaging |
Het |
Gm8237 |
A |
G |
14: 5,864,451 (GRCm38) |
I37T |
probably benign |
Het |
Ikzf5 |
T |
C |
7: 130,998,494 (GRCm39) |
K13E |
probably damaging |
Het |
Kl |
T |
A |
5: 150,906,200 (GRCm39) |
C523* |
probably null |
Het |
Klhl7 |
G |
A |
5: 24,364,687 (GRCm39) |
V574I |
probably benign |
Het |
Lyst |
T |
C |
13: 13,856,029 (GRCm39) |
V2450A |
probably benign |
Het |
Map3k6 |
A |
T |
4: 132,976,999 (GRCm39) |
I819F |
probably damaging |
Het |
Mphosph9 |
T |
C |
5: 124,401,074 (GRCm39) |
E891G |
probably damaging |
Het |
Myo7b |
A |
G |
18: 32,147,355 (GRCm39) |
S63P |
probably damaging |
Het |
Ndufaf7 |
C |
T |
17: 79,252,439 (GRCm39) |
R283C |
possibly damaging |
Het |
Nepro |
G |
T |
16: 44,547,462 (GRCm39) |
A60S |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,119,445 (GRCm39) |
S354P |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,963,338 (GRCm39) |
L974H |
probably damaging |
Het |
Or4a80 |
T |
C |
2: 89,583,172 (GRCm39) |
|
probably null |
Het |
Or52ad1 |
A |
T |
7: 102,996,056 (GRCm39) |
H26Q |
probably benign |
Het |
Parp12 |
C |
T |
6: 39,091,165 (GRCm39) |
D142N |
probably benign |
Het |
Pcdh15 |
G |
A |
10: 74,466,527 (GRCm39) |
D1449N |
probably damaging |
Het |
Pcsk7 |
C |
T |
9: 45,820,778 (GRCm39) |
T70M |
probably benign |
Het |
Pld4 |
T |
C |
12: 112,733,263 (GRCm39) |
F280L |
probably benign |
Het |
Ppm1k |
C |
A |
6: 57,501,759 (GRCm39) |
A135S |
probably damaging |
Het |
Prkcq |
A |
T |
2: 11,237,356 (GRCm39) |
Y45F |
probably benign |
Het |
Prom1 |
T |
A |
5: 44,187,076 (GRCm39) |
I385F |
probably damaging |
Het |
Prss12 |
A |
G |
3: 123,299,036 (GRCm39) |
N603D |
probably benign |
Het |
Ptbp2 |
G |
T |
3: 119,514,074 (GRCm39) |
T501K |
possibly damaging |
Het |
Ranbp17 |
C |
A |
11: 33,193,183 (GRCm39) |
R957L |
possibly damaging |
Het |
Rasl10a |
T |
C |
11: 5,008,429 (GRCm39) |
Y42H |
possibly damaging |
Het |
Serpina9 |
G |
A |
12: 103,974,869 (GRCm39) |
Q95* |
probably null |
Het |
Serpinb1b |
C |
A |
13: 33,269,275 (GRCm39) |
Q3K |
possibly damaging |
Het |
Sgo2b |
T |
A |
8: 64,379,617 (GRCm39) |
M1072L |
probably benign |
Het |
Slc1a5 |
T |
C |
7: 16,523,745 (GRCm39) |
V250A |
probably damaging |
Het |
Slc30a6 |
T |
C |
17: 74,730,018 (GRCm39) |
S303P |
probably damaging |
Het |
Tbc1d2 |
A |
T |
4: 46,637,619 (GRCm39) |
I209N |
probably benign |
Het |
Tmc4 |
T |
A |
7: 3,670,177 (GRCm39) |
I484L |
probably benign |
Het |
Ttll5 |
G |
A |
12: 85,965,758 (GRCm39) |
E36K |
probably damaging |
Het |
Unc93b1 |
A |
G |
19: 3,994,041 (GRCm39) |
M391V |
probably benign |
Het |
Xpo5 |
T |
A |
17: 46,526,740 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Pacsin3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Pacsin3
|
APN |
2 |
91,094,121 (GRCm39) |
missense |
probably benign |
|
IGL03071:Pacsin3
|
APN |
2 |
91,090,837 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
2016-08-02 |