Incidental Mutation 'R1428:Pacsin1'
| ID |
161416 |
| 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 |
039484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R1428 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
27874565-27930092 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 27924937 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 217
(T217I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155999
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045896]
[ENSMUST00000097360]
[ENSMUST00000114872]
[ENSMUST00000114873]
[ENSMUST00000231236]
[ENSMUST00000231669]
[ENSMUST00000232437]
|
| AlphaFold |
Q61644 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045896
AA Change: T217I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: T217I
| 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: ENSMUST00000097360
AA Change: T217I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: T217I
| 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: T60I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110522
Gene: ENSMUSG00000040276
AA Change: T60I
| 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: ENSMUST00000114873
AA Change: T217I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: T217I
| 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 damaging
Transcript: ENSMUST00000231669
AA Change: T217I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000232437
AA Change: T217I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232225
|
| Meta Mutation Damage Score |
0.2171 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.5%
- 20x: 90.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
T |
C |
6: 146,853,909 (GRCm39) |
I249M |
possibly damaging |
Het |
| Abl1 |
G |
T |
2: 31,691,822 (GRCm39) |
A1114S |
probably damaging |
Het |
| Acbd5 |
T |
C |
2: 22,989,733 (GRCm39) |
V452A |
probably damaging |
Het |
| Armc12 |
A |
G |
17: 28,756,910 (GRCm39) |
D225G |
probably damaging |
Het |
| Atad3a |
T |
A |
4: 155,840,139 (GRCm39) |
Q121H |
probably damaging |
Het |
| Atosa |
A |
T |
9: 74,913,603 (GRCm39) |
T79S |
probably benign |
Het |
| Bptf |
T |
A |
11: 106,963,873 (GRCm39) |
I1711F |
probably damaging |
Het |
| C2cd4c |
A |
T |
10: 79,448,064 (GRCm39) |
I361N |
probably damaging |
Het |
| Canx |
A |
G |
11: 50,199,221 (GRCm39) |
|
probably benign |
Het |
| Ccdc127 |
C |
T |
13: 74,505,034 (GRCm39) |
T194I |
probably benign |
Het |
| Cdc42ep3 |
T |
C |
17: 79,642,465 (GRCm39) |
K152E |
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Cnbd2 |
T |
C |
2: 156,181,204 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
T |
A |
15: 8,248,853 (GRCm39) |
Y1801N |
possibly damaging |
Het |
| Crybg1 |
T |
C |
10: 43,851,074 (GRCm39) |
N1599S |
probably benign |
Het |
| Cyc1 |
T |
C |
15: 76,228,548 (GRCm39) |
V59A |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,183,117 (GRCm39) |
K484E |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,411,193 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,005,642 (GRCm39) |
S711P |
probably damaging |
Het |
| Espl1 |
A |
T |
15: 102,214,120 (GRCm39) |
Q649L |
probably benign |
Het |
| Eya1 |
G |
A |
1: 14,374,638 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,186,913 (GRCm39) |
Y1311F |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,687 (GRCm39) |
H675L |
possibly damaging |
Het |
| Gins4 |
T |
C |
8: 23,717,144 (GRCm39) |
Y208C |
probably damaging |
Het |
| Gsk3b |
T |
C |
16: 37,910,937 (GRCm39) |
V17A |
probably benign |
Het |
| Gykl1 |
A |
T |
18: 52,827,833 (GRCm39) |
K347I |
probably benign |
Het |
| Helz |
T |
A |
11: 107,483,666 (GRCm39) |
|
probably benign |
Het |
| Hivep3 |
C |
T |
4: 119,953,772 (GRCm39) |
T696I |
possibly damaging |
Het |
| Ifi27l2a |
G |
T |
12: 103,409,093 (GRCm39) |
|
probably benign |
Het |
| Kif13a |
A |
G |
13: 46,944,987 (GRCm39) |
|
probably benign |
Het |
| Kpna3 |
C |
T |
14: 61,620,669 (GRCm39) |
|
probably benign |
Het |
| Mmp15 |
C |
G |
8: 96,096,190 (GRCm39) |
P327R |
probably benign |
Het |
| Mrc1 |
A |
T |
2: 14,320,074 (GRCm39) |
T1003S |
probably benign |
Het |
| Mtss1 |
T |
C |
15: 58,819,239 (GRCm39) |
D393G |
probably benign |
Het |
| Olfm4 |
T |
A |
14: 80,258,843 (GRCm39) |
Y331N |
probably damaging |
Het |
| Or10a49 |
T |
A |
7: 108,468,167 (GRCm39) |
N65Y |
probably damaging |
Het |
| Or4c12b |
G |
C |
2: 89,646,725 (GRCm39) |
L12F |
probably damaging |
Het |
| P2rx3 |
G |
C |
2: 84,855,294 (GRCm39) |
T54R |
possibly damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,308,155 (GRCm39) |
|
probably null |
Het |
| Pknox1 |
T |
C |
17: 31,811,066 (GRCm39) |
|
probably benign |
Het |
| Plb1 |
A |
G |
5: 32,422,256 (GRCm39) |
R70G |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,980,101 (GRCm39) |
A340T |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,485,983 (GRCm39) |
W205R |
probably damaging |
Het |
| Rps6kc1 |
G |
A |
1: 190,530,923 (GRCm39) |
T936M |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,793 (GRCm39) |
|
probably benign |
Het |
| Sstr4 |
A |
G |
2: 148,238,279 (GRCm39) |
S297G |
probably benign |
Het |
| Timm8a1 |
C |
T |
X: 133,438,872 (GRCm39) |
E93K |
probably benign |
Het |
| Uck1 |
A |
C |
2: 32,148,367 (GRCm39) |
Y150D |
probably damaging |
Het |
| Yipf4 |
A |
G |
17: 74,805,300 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
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'- CAGTAAGACAGAGCAGTCGGTCAC -3'
(R):5'- GCTGCATTTGCAGGCTCTTACCAG -3'
Sequencing Primer
(F):5'- GTACCTgtggtggtgcctg -3'
(R):5'- TCCCCGTGAGTCGTccc -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation