Incidental Mutation 'R9316:Pacsin1'
ID |
705895 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.114)
|
Stock # |
R9316 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
27874565-27930092 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27924707 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 186
(K186E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044168
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045896]
[ENSMUST00000097360]
[ENSMUST00000114872]
[ENSMUST00000114873]
[ENSMUST00000231236]
[ENSMUST00000231669]
[ENSMUST00000232437]
|
AlphaFold |
Q61644 |
PDB Structure |
STRUCTURE OF THE F-BAR DOMAIN OF MOUSE SYNDAPIN I [X-RAY DIFFRACTION]
structure of mouse syndapin I (crystal form 2) [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE SYNDAPIN I (CRYSTAL FORM 1) [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045896
AA Change: K186E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044168 Gene: ENSMUSG00000040276 AA Change: K186E
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: ENSMUST00000097360
AA Change: K186E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000094973 Gene: ENSMUSG00000040276 AA Change: K186E
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 damaging
Transcript: ENSMUST00000114872
AA Change: K29E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110522 Gene: ENSMUSG00000040276 AA Change: K29E
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: ENSMUST00000114873
AA Change: K186E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000110523 Gene: ENSMUSG00000040276 AA Change: K186E
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 |
possibly damaging
Transcript: ENSMUST00000231669
AA Change: K186E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232437
AA Change: K186E
PolyPhen 2
Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
91% (32/35) |
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr5 |
C |
A |
2: 158,477,274 (GRCm39) |
N408K |
probably benign |
Het |
AI661453 |
A |
G |
17: 47,747,832 (GRCm39) |
I35V |
probably benign |
Het |
Asb10 |
G |
T |
5: 24,745,045 (GRCm39) |
N101K |
possibly damaging |
Het |
Bpifa6 |
T |
C |
2: 153,828,383 (GRCm39) |
V163A |
possibly damaging |
Het |
Dmp1 |
G |
T |
5: 104,357,767 (GRCm39) |
D36Y |
probably benign |
Het |
Eef1d |
T |
A |
15: 75,781,130 (GRCm39) |
|
probably benign |
Het |
Gcm2 |
C |
T |
13: 41,259,328 (GRCm39) |
R47H |
probably damaging |
Het |
Gm7145 |
A |
G |
1: 117,896,174 (GRCm39) |
N72S |
probably benign |
Het |
Gpr45 |
T |
A |
1: 43,071,534 (GRCm39) |
V59E |
probably damaging |
Het |
Gucy1a1 |
T |
C |
3: 82,016,250 (GRCm39) |
E246G |
possibly damaging |
Het |
Hspa12a |
C |
T |
19: 58,793,079 (GRCm39) |
E369K |
probably benign |
Het |
Iho1 |
T |
C |
9: 108,298,726 (GRCm39) |
T31A |
possibly damaging |
Het |
Il6st |
T |
A |
13: 112,639,349 (GRCm39) |
N652K |
possibly damaging |
Het |
Kdm5a |
T |
A |
6: 120,381,973 (GRCm39) |
D672E |
probably damaging |
Het |
Klk6 |
T |
C |
7: 43,477,912 (GRCm39) |
S95P |
probably benign |
Het |
Lrrc51 |
C |
T |
7: 101,562,351 (GRCm39) |
R169H |
probably damaging |
Het |
Or14c41 |
T |
C |
7: 86,235,134 (GRCm39) |
V217A |
probably benign |
Het |
Or3a4 |
A |
T |
11: 73,944,892 (GRCm39) |
I231N |
probably damaging |
Het |
Pate3 |
C |
T |
9: 35,557,374 (GRCm39) |
C94Y |
probably damaging |
Het |
Pcdh18 |
G |
A |
3: 49,709,089 (GRCm39) |
T742M |
probably damaging |
Het |
Pogz |
T |
A |
3: 94,784,659 (GRCm39) |
S779T |
probably damaging |
Het |
Prep |
A |
T |
10: 44,967,192 (GRCm39) |
K75M |
probably damaging |
Het |
Qsox2 |
T |
G |
2: 26,101,084 (GRCm39) |
K475T |
probably benign |
Het |
Qsox2 |
T |
A |
2: 26,101,085 (GRCm39) |
K475* |
probably null |
Het |
Rfng |
A |
T |
11: 120,674,863 (GRCm39) |
D42E |
unknown |
Het |
Ripor2 |
C |
T |
13: 24,905,719 (GRCm39) |
T955M |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,717,387 (GRCm39) |
E4554K |
unknown |
Het |
Slco1a5 |
A |
T |
6: 142,195,935 (GRCm39) |
L356H |
probably damaging |
Het |
Tbc1d21 |
G |
A |
9: 58,274,215 (GRCm39) |
A30V |
probably benign |
Het |
Tmem161b |
C |
A |
13: 84,430,855 (GRCm39) |
H158N |
possibly damaging |
Het |
Tmem217 |
A |
G |
17: 29,745,383 (GRCm39) |
F116L |
probably benign |
Het |
Tnfrsf13c |
A |
G |
15: 82,108,021 (GRCm39) |
I119T |
probably benign |
Het |
Tpp2 |
G |
A |
1: 44,017,604 (GRCm39) |
R736H |
probably damaging |
Het |
Vmn2r75 |
T |
A |
7: 85,797,313 (GRCm39) |
R833S |
possibly damaging |
Het |
Zfp330 |
A |
G |
8: 83,491,487 (GRCm39) |
S229P |
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 |
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 |
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'- GAGTGAACAGGCACGTGTTG -3'
(R):5'- CCTCCATGTACTGTGGTGTG -3'
Sequencing Primer
(F):5'- CACGTGTTGCTGACGGG -3'
(R):5'- CTGAGTCTGCAGGTACCAGGATG -3'
|
Posted On |
2022-03-25 |