Incidental Mutation 'R4349:Pacsin1'
| ID |
328454 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pacsin1
|
| Ensembl Gene |
ENSMUSG00000040276 |
| Gene Name |
protein kinase C and casein kinase substrate in neurons 1 |
| Synonyms |
A830061D09Rik, Syndapin I |
| MMRRC Submission |
041104-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R4349 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
27874565-27930092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 27925978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 107
(V107I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110522
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045896]
[ENSMUST00000097360]
[ENSMUST00000114872]
[ENSMUST00000114873]
[ENSMUST00000231236]
[ENSMUST00000231669]
[ENSMUST00000232437]
|
| AlphaFold |
Q61644 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045896
AA Change: V264I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: V264I
| 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: ENSMUST00000097360
AA Change: V264I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: V264I
| 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 |
possibly damaging
Transcript: ENSMUST00000114872
AA Change: V107I
PolyPhen 2
Score 0.517 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276
AA Change: V107I
| 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: ENSMUST00000114873
AA Change: V264I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: V264I
| 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: ENSMUST00000231236
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231350
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231669
AA Change: V264I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000232437
AA Change: V264I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232225
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (36/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
G |
T |
1: 155,562,827 (GRCm39) |
R276L |
probably benign |
Het |
| Bahcc1 |
G |
A |
11: 120,150,027 (GRCm39) |
R103Q |
probably damaging |
Het |
| Cd101 |
G |
A |
3: 100,920,630 (GRCm39) |
T423M |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,906,814 (GRCm39) |
D547G |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,176,312 (GRCm39) |
E801G |
probably damaging |
Het |
| Dzip1 |
T |
C |
14: 119,120,938 (GRCm39) |
D673G |
probably benign |
Het |
| Enam |
T |
C |
5: 88,651,407 (GRCm39) |
L972P |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,228,039 (GRCm39) |
T1630N |
probably benign |
Het |
| Fra10ac1 |
A |
G |
19: 38,188,053 (GRCm39) |
S248P |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,754,431 (GRCm39) |
R385G |
probably damaging |
Het |
| Gtpbp8 |
T |
A |
16: 44,566,560 (GRCm39) |
|
probably null |
Het |
| Kif23 |
C |
T |
9: 61,839,396 (GRCm39) |
V284M |
probably damaging |
Het |
| Klhdc7a |
A |
G |
4: 139,693,588 (GRCm39) |
V453A |
possibly damaging |
Het |
| Klhl35 |
G |
A |
7: 99,122,926 (GRCm39) |
V517M |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Milr1 |
T |
C |
11: 106,654,708 (GRCm39) |
S84P |
possibly damaging |
Het |
| Nrp2 |
A |
G |
1: 62,777,576 (GRCm39) |
D127G |
probably damaging |
Het |
| Or12j5 |
A |
T |
7: 140,084,270 (GRCm39) |
L34* |
probably null |
Het |
| Otog |
A |
T |
7: 45,923,613 (GRCm39) |
Q1082L |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,489,590 (GRCm39) |
H1668R |
probably damaging |
Het |
| Pigv |
T |
C |
4: 133,392,127 (GRCm39) |
T348A |
probably benign |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Rbm25 |
A |
G |
12: 83,721,947 (GRCm39) |
D711G |
probably damaging |
Het |
| Rnf31 |
AAC |
A |
14: 55,838,555 (GRCm39) |
|
probably null |
Het |
| Sec24a |
G |
T |
11: 51,605,976 (GRCm39) |
Q692K |
probably benign |
Het |
| Sidt2 |
C |
T |
9: 45,857,011 (GRCm39) |
D205N |
possibly damaging |
Het |
| Skint10 |
T |
C |
4: 112,626,968 (GRCm39) |
*113W |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,380,257 (GRCm39) |
E637G |
probably benign |
Het |
| Vmn2r94 |
T |
A |
17: 18,464,605 (GRCm39) |
I562F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,367 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp605 |
T |
A |
5: 110,276,552 (GRCm39) |
C557S |
probably damaging |
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 |
|
|
IGL02752:Pacsin1
|
APN |
17 |
27,921,672 (GRCm39) |
critical splice acceptor 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGAATGCCTTTAACTCCAG -3'
(R):5'- GGTCTGAACTTACAGTCCCCTC -3'
Sequencing Primer
(F):5'- CGGCTACATAGAGAGATTCCGTATC -3'
(R):5'- TGAACTTACAGTCCCCTCCCAAC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation