Incidental Mutation 'IGL02752:Pacsin1'
ID 304252
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pacsin1
Ensembl Gene ENSMUSG00000040276
Gene Name protein kinase C and casein kinase substrate in neurons 1
Synonyms A830061D09Rik, Syndapin I
Accession Numbers
Essential gene? Probably non essential (E-score: 0.114) question?
Stock # IGL02752
Quality Score
Status
Chromosome 17
Chromosomal Location 27874565-27930092 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 27921672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000045896
SMART Domains Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000097360
SMART Domains Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000114873
SMART Domains Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000231236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231854
Predicted Effect probably null
Transcript: ENSMUST00000231669
Predicted Effect probably null
Transcript: ENSMUST00000232437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232225
Coding Region Coverage
Validation Efficiency
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,840,042 (GRCm39) E145* probably null Het
Abca9 A G 11: 110,018,194 (GRCm39) F1142S probably damaging Het
Bod1l T C 5: 41,973,806 (GRCm39) T2503A possibly damaging Het
Bpi A G 2: 158,104,344 (GRCm39) D149G probably damaging Het
Cntnap5a A G 1: 116,508,261 (GRCm39) T1258A probably benign Het
Col4a3 A G 1: 82,637,946 (GRCm39) D256G unknown Het
Cul5 T C 9: 53,546,278 (GRCm39) T338A probably damaging Het
Efs A G 14: 55,154,880 (GRCm39) V453A probably damaging Het
Fbxw19 T A 9: 109,323,709 (GRCm39) N89Y probably benign Het
Fbxw8 A G 5: 118,280,815 (GRCm39) F114S probably damaging Het
Flnb A G 14: 7,917,338 (GRCm38) I1606V probably benign Het
Gpr158 A G 2: 21,831,638 (GRCm39) T913A possibly damaging Het
Gtf2f1 A T 17: 57,316,682 (GRCm39) probably benign Het
Gtf2ird1 T A 5: 134,387,678 (GRCm39) *1059L probably null Het
Hmgb4 T C 4: 128,154,134 (GRCm39) K145E probably damaging Het
Igf2bp2 T A 16: 21,898,860 (GRCm39) M250L probably benign Het
Igkv14-111 A G 6: 68,233,561 (GRCm39) K21E probably benign Het
Il6st C T 13: 112,616,729 (GRCm39) T92I probably damaging Het
Jak3 G T 8: 72,135,595 (GRCm39) V581L possibly damaging Het
Kank2 C T 9: 21,706,329 (GRCm39) V230M probably damaging Het
Kif1a G A 1: 92,967,569 (GRCm39) A1123V possibly damaging Het
Kpna4 T A 3: 69,002,863 (GRCm39) R125* probably null Het
Mybpc3 A T 2: 90,962,982 (GRCm39) probably null Het
Ntn4 T C 10: 93,546,421 (GRCm39) V358A possibly damaging Het
Pcsk2 A G 2: 143,615,865 (GRCm39) N221S probably benign Het
Pik3cg A G 12: 32,254,262 (GRCm39) L575P probably damaging Het
Pkhd1 A T 1: 20,623,815 (GRCm39) V760E possibly damaging Het
Plxnc1 T C 10: 94,630,542 (GRCm39) probably null Het
Ppfia1 T C 7: 144,073,341 (GRCm39) T217A probably benign Het
Rictor A G 15: 6,816,852 (GRCm39) T1375A probably benign Het
Scn1a A G 2: 66,161,756 (GRCm39) I264T probably damaging Het
Sez6l2 T C 7: 126,552,905 (GRCm39) S164P probably damaging Het
Slc31a1 C T 4: 62,303,869 (GRCm39) probably benign Het
Slc45a1 T C 4: 150,722,478 (GRCm39) N469D probably benign Het
Slco1a5 T C 6: 142,208,438 (GRCm39) T76A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stfa3 G A 16: 36,270,999 (GRCm39) T95I probably damaging Het
Stk11ip A C 1: 75,501,325 (GRCm39) probably null Het
Tcn2 C A 11: 3,876,158 (GRCm39) S90I possibly damaging Het
Traf1 A G 2: 34,848,020 (GRCm39) S25P probably benign Het
Ttn G T 2: 76,622,125 (GRCm39) probably benign Het
Wdfy4 A T 14: 32,798,283 (GRCm39) I2041N probably damaging Het
Zfp512b A T 2: 181,229,864 (GRCm39) D556E possibly damaging Het
Zfpm2 T A 15: 40,965,415 (GRCm39) D633E probably benign Het
Other mutations in Pacsin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01960:Pacsin1 APN 17 27,923,809 (GRCm39) splice 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
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
Posted On 2015-04-16