Incidental Mutation 'R2332:Pacsin1'
| ID |
246489 |
| 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 |
040322-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R2332 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
27874565-27930092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27923885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 93
(E93G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045896]
[ENSMUST00000097360]
[ENSMUST00000114872]
[ENSMUST00000114873]
[ENSMUST00000231236]
[ENSMUST00000231669]
[ENSMUST00000232437]
|
| AlphaFold |
Q61644 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045896
AA Change: E93G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: E93G
| 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: E93G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: E93G
| 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: ENSMUST00000114872
|
| SMART Domains |
Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276
| 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: E93G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: E93G
| 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: ENSMUST00000231236
AA Change: E93G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231350
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231669
AA Change: E93G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000232437
AA Change: E93G
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231854
|
| Meta Mutation Damage Score |
0.2618 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
98% (47/48) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apc |
T |
C |
18: 34,450,112 (GRCm39) |
I2302T |
possibly damaging |
Het |
| Apoa4 |
G |
A |
9: 46,153,653 (GRCm39) |
V85I |
probably benign |
Het |
| Banf1 |
C |
T |
19: 5,415,058 (GRCm39) |
W84* |
probably null |
Het |
| Cdk13 |
A |
G |
13: 17,893,280 (GRCm39) |
L627P |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,832,527 (GRCm39) |
E1483G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,490,125 (GRCm39) |
E1698G |
probably benign |
Het |
| Depdc1a |
C |
A |
3: 159,229,503 (GRCm39) |
Q612K |
probably damaging |
Het |
| Dnaja2 |
G |
A |
8: 86,266,765 (GRCm39) |
R321C |
probably damaging |
Het |
| Fam186b |
T |
A |
15: 99,178,309 (GRCm39) |
E339V |
probably benign |
Het |
| Fga |
T |
C |
3: 82,938,704 (GRCm39) |
F360L |
probably damaging |
Het |
| Fut9 |
C |
T |
4: 25,619,823 (GRCm39) |
W330* |
probably null |
Het |
| Ghr |
T |
C |
15: 3,349,891 (GRCm39) |
N429S |
probably benign |
Het |
| Gm5444 |
A |
T |
13: 4,883,624 (GRCm39) |
|
noncoding transcript |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,179,659 (GRCm39) |
I239V |
probably damaging |
Het |
| Hps6 |
T |
C |
19: 45,992,930 (GRCm39) |
V289A |
possibly damaging |
Het |
| Iqcb1 |
A |
G |
16: 36,663,801 (GRCm39) |
N190D |
possibly damaging |
Het |
| Map3k13 |
G |
A |
16: 21,717,427 (GRCm39) |
|
probably null |
Het |
| Or10ag53 |
T |
C |
2: 87,083,217 (GRCm39) |
V312A |
possibly damaging |
Het |
| Or52d13 |
A |
G |
7: 103,110,293 (GRCm39) |
Y41H |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,784,422 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,887,435 (GRCm39) |
E482D |
probably damaging |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,971 (GRCm39) |
S276P |
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,866,705 (GRCm39) |
V538A |
probably benign |
Het |
| Rmdn3 |
A |
T |
2: 118,984,008 (GRCm39) |
|
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
| Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
| Slc4a11 |
A |
T |
2: 130,526,379 (GRCm39) |
V855D |
probably benign |
Het |
| Speer4f1 |
C |
A |
5: 17,684,522 (GRCm39) |
N183K |
probably damaging |
Het |
| Sstr4 |
A |
T |
2: 148,238,330 (GRCm39) |
N314Y |
probably damaging |
Het |
| Synj2 |
A |
G |
17: 6,074,069 (GRCm39) |
K288E |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,428,070 (GRCm39) |
N409Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,611,483 (GRCm39) |
W15604R |
probably damaging |
Het |
| Ugdh |
C |
T |
5: 65,584,827 (GRCm39) |
V32I |
possibly damaging |
Het |
| Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
| Vps13d |
G |
T |
4: 144,875,256 (GRCm39) |
D1750E |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,036,189 (GRCm39) |
|
probably benign |
Het |
| Wnt4 |
C |
A |
4: 137,023,831 (GRCm39) |
T266K |
probably benign |
Het |
| Wtap |
C |
T |
17: 13,186,425 (GRCm39) |
R374Q |
possibly damaging |
Het |
| Zfp322a |
A |
T |
13: 23,541,494 (GRCm39) |
C83S |
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 |
|
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 |
|
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'- TCTGTTGCCATGGGAAGAGAG -3'
(R):5'- GATGCTGGCATTCCCTTGTG -3'
Sequencing Primer
(F):5'- GGGGGAAGTGTCAGAGAGG -3'
(R):5'- ACAGATGCCCTCCTGTGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation