Incidental Mutation 'R3927:Pacsin3'
| ID |
308312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacsin3
|
| Ensembl Gene |
ENSMUSG00000027257 |
| Gene Name |
protein kinase C and casein kinase substrate in neurons 3 |
| Synonyms |
6330413E15Rik, 4921507A02Rik |
| MMRRC Submission |
040822-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3927 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
91086299-91095024 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 91093286 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]
[ENSMUST00000144394]
[ENSMUST00000138470]
[ENSMUST00000156919]
[ENSMUST00000131711]
[ENSMUST00000134699]
[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 null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000141313
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150701
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150753
|
| 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: 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: 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: 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: ENSMUST00000154959
|
| SMART Domains |
Protein: ENSMUSP00000122769
Gene: ENSMUSG00000027257
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
14 |
64 |
2.3e-15 |
PFAM |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
95% (40/42) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
A |
G |
2: 103,538,563 (GRCm39) |
|
probably null |
Het |
| Alpk1 |
T |
C |
3: 127,471,365 (GRCm39) |
H1039R |
probably damaging |
Het |
| Avpr1a |
A |
G |
10: 122,285,616 (GRCm39) |
S303G |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,246,840 (GRCm39) |
L79S |
probably damaging |
Het |
| Baz1a |
A |
G |
12: 54,967,928 (GRCm39) |
I667T |
possibly damaging |
Het |
| Bend5 |
A |
G |
4: 111,305,802 (GRCm39) |
Y282C |
possibly damaging |
Het |
| Clstn3 |
T |
C |
6: 124,428,327 (GRCm39) |
D438G |
probably damaging |
Het |
| Cog3 |
A |
G |
14: 75,980,998 (GRCm39) |
|
probably benign |
Het |
| Cyp2j6 |
T |
C |
4: 96,441,525 (GRCm39) |
N55S |
probably benign |
Het |
| Eif4b |
G |
A |
15: 101,992,745 (GRCm39) |
G101R |
probably damaging |
Het |
| Epha2 |
T |
C |
4: 141,033,861 (GRCm39) |
L40P |
probably damaging |
Het |
| Fig4 |
A |
G |
10: 41,139,135 (GRCm39) |
V356A |
probably benign |
Het |
| Hal |
T |
C |
10: 93,349,888 (GRCm39) |
|
probably benign |
Het |
| Helz |
A |
G |
11: 107,576,118 (GRCm39) |
Y1770C |
unknown |
Het |
| Meis3 |
A |
G |
7: 15,911,419 (GRCm39) |
T39A |
probably benign |
Het |
| Nod1 |
G |
T |
6: 54,921,902 (GRCm39) |
R139S |
probably benign |
Het |
| Or6n2 |
A |
T |
1: 173,896,878 (GRCm39) |
N5Y |
probably damaging |
Het |
| Plekhh1 |
T |
A |
12: 79,100,422 (GRCm39) |
I130N |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,465 (GRCm39) |
E512K |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,057,531 (GRCm39) |
I215M |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Sap130 |
A |
T |
18: 31,807,435 (GRCm39) |
H414L |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,145 (GRCm39) |
I156T |
probably benign |
Het |
| Slc37a2 |
G |
A |
9: 37,146,803 (GRCm39) |
T338M |
probably damaging |
Het |
| Spinkl |
T |
A |
18: 44,302,230 (GRCm39) |
|
probably null |
Het |
| Tmc5 |
T |
A |
7: 118,251,878 (GRCm39) |
L657* |
probably null |
Het |
| Tmem217 |
A |
G |
17: 29,745,677 (GRCm39) |
S18P |
probably damaging |
Het |
| Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,387,967 (GRCm39) |
V353A |
probably benign |
Het |
| Ube3b |
T |
C |
5: 114,553,741 (GRCm39) |
F974L |
probably benign |
Het |
| Ubqln5 |
A |
G |
7: 103,777,678 (GRCm39) |
L382P |
probably damaging |
Het |
| Ufsp2 |
T |
A |
8: 46,436,723 (GRCm39) |
|
probably null |
Het |
| Unkl |
C |
T |
17: 25,448,303 (GRCm39) |
T66I |
probably damaging |
Het |
| Xrn2 |
T |
A |
2: 146,880,109 (GRCm39) |
N477K |
probably benign |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,749,208 (GRCm39) |
S899P |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,161,499 (GRCm39) |
Y298H |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGCAGTCTGTCCTCACTG -3'
(R):5'- CAGCGCAGATCCTCTTCATC -3'
Sequencing Primer
(F):5'- TTCTCTCTCACCCAGATGAAAAC -3'
(R):5'- TCACTGGCAGCCTCAATG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation