Incidental Mutation 'R5936:Pacsin1'
ID 462295
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 044130-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.113) question?
Stock # R5936 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 27874565-27930092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 27923971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 122 (I122F)
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 benign
Transcript: ENSMUST00000045896
AA Change: I122F

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000044168
Gene: ENSMUSG00000040276
AA Change: I122F

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: ENSMUST00000097360
AA Change: I122F

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000094973
Gene: ENSMUSG00000040276
AA Change: I122F

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 benign
Transcript: ENSMUST00000114873
AA Change: I122F

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110523
Gene: ENSMUSG00000040276
AA Change: I122F

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: ENSMUST00000231236
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231350
Predicted Effect probably benign
Transcript: ENSMUST00000231669
AA Change: I122F

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect probably benign
Transcript: ENSMUST00000232437
AA Change: I122F

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231854
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232225
Meta Mutation Damage Score 0.1193 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.0%
Validation Efficiency 91% (77/85)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A T 2: 68,445,848 (GRCm39) probably benign Het
Acnat2 T C 4: 49,383,362 (GRCm39) T64A probably benign Het
Afap1 A G 5: 36,131,740 (GRCm39) N356D possibly damaging Het
Ahi1 A G 10: 20,841,832 (GRCm39) D301G probably damaging Het
Alpk2 G A 18: 65,483,591 (GRCm39) T139M probably damaging Het
Ankrd46 T C 15: 36,479,428 (GRCm39) D221G probably benign Het
Ano6 T A 15: 95,870,482 (GRCm39) L900H probably damaging Het
Asphd2 G A 5: 112,533,623 (GRCm39) R343* probably null Het
Atosa T C 9: 74,916,586 (GRCm39) L395P probably benign Het
Brdt A G 5: 107,507,261 (GRCm39) T554A probably damaging Het
Cacna1d A G 14: 29,893,271 (GRCm39) V401A possibly damaging Het
Cbs T C 17: 31,844,068 (GRCm39) T188A probably damaging Het
Cfap54 T A 10: 92,798,274 (GRCm39) T1662S probably benign Het
Chka A G 19: 3,934,580 (GRCm39) I205V probably benign Het
Chsy1 T A 7: 65,822,025 (GRCm39) N753K possibly damaging Het
Cpz A G 5: 35,659,987 (GRCm39) S553P probably benign Het
Crtac1 A G 19: 42,312,276 (GRCm39) Y146H probably damaging Het
Csf1r A T 18: 61,258,880 (GRCm39) I700F probably damaging Het
Ddx20 C A 3: 105,587,903 (GRCm39) E392D possibly damaging Het
Dhrs11 G T 11: 84,716,350 (GRCm39) Y67* probably null Het
Diaph3 G T 14: 87,009,552 (GRCm39) Q1076K possibly damaging Het
Dop1a T A 9: 86,418,565 (GRCm39) L2037* probably null Het
Dst G T 1: 34,346,539 (GRCm39) V5336L probably damaging Het
Etv1 C A 12: 38,885,209 (GRCm39) H248Q probably damaging Het
Fcgbp T C 7: 27,786,117 (GRCm39) V518A probably damaging Het
Fchsd2 T C 7: 100,840,908 (GRCm39) L139S probably damaging Het
Fer A T 17: 64,231,058 (GRCm39) T270S probably benign Het
Fgd5 A G 6: 91,964,892 (GRCm39) E375G probably damaging Het
Firrm T G 1: 163,814,581 (GRCm39) I121L probably benign Het
Gabarapl1 T A 6: 129,515,566 (GRCm39) I68N probably benign Het
Gopc C T 10: 52,222,295 (GRCm39) V30M probably damaging Het
Hbp1 T C 12: 31,987,095 (GRCm39) probably null Het
Helz2 A G 2: 180,872,560 (GRCm39) V2480A probably damaging Het
Igfbp3 T A 11: 7,159,472 (GRCm39) Y247F probably damaging Het
Kbtbd11 C A 8: 15,077,534 (GRCm39) S44R probably benign Het
Kcnk10 G T 12: 98,456,191 (GRCm39) S213R probably benign Het
Kcnq3 T A 15: 65,871,959 (GRCm39) D570V probably damaging Het
Kif21a A G 15: 90,819,850 (GRCm39) F1594S possibly damaging Het
Klf3 A G 5: 64,980,303 (GRCm39) D31G probably damaging Het
Mapkapk3 T C 9: 107,166,369 (GRCm39) K59E probably damaging Het
Myo18a A G 11: 77,709,039 (GRCm39) T484A probably damaging Het
Nlrp6 T A 7: 140,502,725 (GRCm39) L277* probably null Het
Nr5a1 G T 2: 38,591,790 (GRCm39) probably benign Het
Nsmaf C T 4: 6,421,017 (GRCm39) probably benign Het
Or4f58 T A 2: 111,851,932 (GRCm39) H89L probably benign Het
Orc1 A G 4: 108,459,180 (GRCm39) T450A probably benign Het
Pced1b T A 15: 97,283,061 (GRCm39) Y367N possibly damaging Het
Pced1b T A 15: 97,283,063 (GRCm39) Y367* probably null Het
Pdpk1 A G 17: 24,312,203 (GRCm39) F281L probably damaging Het
Piwil1 T C 5: 128,828,142 (GRCm39) V714A probably benign Het
Plcd3 C T 11: 102,969,173 (GRCm39) V265M probably damaging Het
Ppp1r1c A T 2: 79,586,798 (GRCm39) E48V possibly damaging Het
Prl2b1 T G 13: 27,572,432 (GRCm39) T53P probably damaging Het
Ptch2 T G 4: 116,965,491 (GRCm39) F359V probably benign Het
R3hdm2 G A 10: 127,307,681 (GRCm39) S314N probably damaging Het
Rictor A T 15: 6,813,642 (GRCm39) S1043C probably damaging Het
Rtn4rl2 A T 2: 84,710,775 (GRCm39) L163Q probably damaging Het
Sarnp T A 10: 128,684,640 (GRCm39) S129T probably benign Het
Scube3 A T 17: 28,384,461 (GRCm39) K585M probably damaging Het
Sgk3 C T 1: 9,956,045 (GRCm39) probably benign Het
Skint6 C T 4: 112,953,790 (GRCm39) S458N probably benign Het
Slc25a54 A G 3: 109,005,954 (GRCm39) H154R possibly damaging Het
Sorbs1 A C 19: 40,313,216 (GRCm39) I690S probably damaging Het
Sqle C A 15: 59,202,678 (GRCm39) A512D probably damaging Het
Tedc2 A C 17: 24,435,315 (GRCm39) L358R probably damaging Het
Tfr2 A G 5: 137,585,268 (GRCm39) S767G probably benign Het
Thoc5 A G 11: 4,854,133 (GRCm39) E27G probably damaging Het
Trappc8 A T 18: 21,007,745 (GRCm39) F123L probably damaging Het
Ube3d C T 9: 86,254,512 (GRCm39) G323D probably benign Het
Unc13c T A 9: 73,485,774 (GRCm39) H1642L probably damaging Het
Vmn1r10 A T 6: 57,091,302 (GRCm39) H298L probably benign Het
Xpo4 A T 14: 57,880,956 (GRCm39) Y26N probably benign Het
Zer1 A G 2: 29,997,679 (GRCm39) L409P probably damaging Het
Zfyve28 A T 5: 34,382,332 (GRCm39) L256Q probably damaging Het
Zgrf1 A G 3: 127,355,902 (GRCm39) E376G possibly damaging Het
Other mutations in Pacsin1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTGTTGCCATGGGAAGAGAG -3'
(R):5'- AAGATGCTGGCATTCCCTTG -3'

Sequencing Primer
(F):5'- TTGGGGGTCCCTGTAACC -3'
(R):5'- TCTGAGGTACCTCCTTCA -3'
Posted On 2017-02-28