Incidental Mutation 'R7510:Synj1'
ID 582053
Institutional Source Beutler Lab
Gene Symbol Synj1
Ensembl Gene ENSMUSG00000022973
Gene Name synaptojanin 1
Synonyms A930006D20Rik
MMRRC Submission 045583-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7510 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 90732980-90808196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90735565 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1463 (S1463P)
Ref Sequence ENSEMBL: ENSMUSP00000113308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023694] [ENSMUST00000121759] [ENSMUST00000125519] [ENSMUST00000129743] [ENSMUST00000142340] [ENSMUST00000170853] [ENSMUST00000149833]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023694
SMART Domains Protein: ENSMUSP00000023694
Gene: ENSMUSG00000022972

DomainStartEndE-ValueType
Pfam:DUF2870 189 285 4.7e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118390
SMART Domains Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
Pfam:Syja_N 75 356 3.1e-71 PFAM
IPPc 546 889 6.37e-177 SMART
DUF1866 882 1024 1.24e-80 SMART
low complexity region 1040 1069 N/A INTRINSIC
low complexity region 1117 1151 N/A INTRINSIC
low complexity region 1155 1166 N/A INTRINSIC
low complexity region 1189 1208 N/A INTRINSIC
low complexity region 1289 1322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121759
AA Change: S1463P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: S1463P

DomainStartEndE-ValueType
low complexity region 9 40 N/A INTRINSIC
Pfam:Syja_N 100 381 4.2e-71 PFAM
IPPc 571 914 6.37e-177 SMART
DUF1866 907 1049 1.24e-80 SMART
low complexity region 1065 1094 N/A INTRINSIC
low complexity region 1142 1176 N/A INTRINSIC
low complexity region 1180 1191 N/A INTRINSIC
low complexity region 1214 1233 N/A INTRINSIC
low complexity region 1314 1343 N/A INTRINSIC
Blast:IPPc 1344 1428 1e-17 BLAST
low complexity region 1564 1596 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129041
Predicted Effect probably benign
Transcript: ENSMUST00000129743
SMART Domains Protein: ENSMUSP00000123231
Gene: ENSMUSG00000022973

DomainStartEndE-ValueType
low complexity region 69 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131583
Predicted Effect probably benign
Transcript: ENSMUST00000154276
SMART Domains Protein: ENSMUSP00000122675
Gene: ENSMUSG00000022973

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
low complexity region 54 73 N/A INTRINSIC
low complexity region 154 187 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000142340
Predicted Effect probably benign
Transcript: ENSMUST00000170853
SMART Domains Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973

DomainStartEndE-ValueType
Pfam:Syja_N 59 346 1.7e-85 PFAM
IPPc 531 874 6.37e-177 SMART
DUF1866 867 1009 1.24e-80 SMART
low complexity region 1025 1054 N/A INTRINSIC
low complexity region 1102 1136 N/A INTRINSIC
low complexity region 1140 1151 N/A INTRINSIC
low complexity region 1174 1193 N/A INTRINSIC
low complexity region 1274 1307 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149833
SMART Domains Protein: ENSMUSP00000123417
Gene: ENSMUSG00000022972

DomainStartEndE-ValueType
Pfam:DUF2870 171 198 5.8e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232326
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
Validation Efficiency 97% (65/67)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b1 C T 10: 98,829,758 (GRCm39) R320C probably benign Het
Bend4 A G 5: 67,584,727 (GRCm39) F66L unknown Het
Brca2 T C 5: 150,460,156 (GRCm39) V477A possibly damaging Het
Brms1l A T 12: 55,892,107 (GRCm39) K134* probably null Het
Catsper1 A T 19: 5,389,578 (GRCm39) T498S probably benign Het
Ccdc177 C A 12: 80,804,457 (GRCm39) V606L unknown Het
D030056L22Rik G T 19: 18,690,853 (GRCm39) A56S possibly damaging Het
Disp1 T C 1: 182,869,975 (GRCm39) N815S probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Fancf A G 7: 51,511,953 (GRCm39) V17A probably damaging Het
Fastkd2 T A 1: 63,776,948 (GRCm39) H361Q possibly damaging Het
Furin A G 7: 80,043,333 (GRCm39) S293P probably damaging Het
Ghsr A T 3: 27,426,523 (GRCm39) D193V probably benign Het
Gm14403 T A 2: 177,200,403 (GRCm39) N116K probably benign Het
Gpr31b A G 17: 13,270,557 (GRCm39) L204P probably damaging Het
Hexim1 A G 11: 103,008,067 (GRCm39) E107G probably benign Het
Hspa14 T C 2: 3,499,159 (GRCm39) S212G probably benign Het
Il18r1 T A 1: 40,514,035 (GRCm39) H80Q probably benign Het
Itpr3 A G 17: 27,308,013 (GRCm39) T267A probably damaging Het
Kidins220 T A 12: 25,042,268 (GRCm39) H146Q possibly damaging Het
Larp4 T C 15: 99,891,258 (GRCm39) F228L probably benign Het
Ltbp1 T A 17: 75,659,712 (GRCm39) V1288E probably damaging Het
Madd T C 2: 91,008,321 (GRCm39) T194A possibly damaging Het
Mlana G A 19: 29,682,072 (GRCm39) G42S probably benign Het
Mlxipl A G 5: 135,161,972 (GRCm39) E548G possibly damaging Het
Mmab A T 5: 114,573,283 (GRCm39) C228S probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nrf1 C T 6: 30,151,633 (GRCm39) T490I possibly damaging Het
Numbl A G 7: 26,971,412 (GRCm39) probably null Het
Or12e13 T A 2: 87,663,872 (GRCm39) I163K probably damaging Het
Or13c7 A G 4: 43,854,482 (GRCm39) T58A probably benign Het
Or5bw2 C T 7: 6,572,960 (GRCm39) probably benign Het
Or5v1b T A 17: 37,841,480 (GRCm39) I204N probably damaging Het
Or6c3b G T 10: 129,527,789 (GRCm39) N40K probably damaging Het
Or9g8 T A 2: 85,607,153 (GRCm39) V75D probably damaging Het
Papln G A 12: 83,818,947 (GRCm39) D96N probably damaging Het
Pcdhb14 T C 18: 37,582,645 (GRCm39) Y584H probably damaging Het
Pde7b T C 10: 20,288,761 (GRCm39) D310G possibly damaging Het
Plin5 T A 17: 56,420,975 (GRCm39) H230L probably damaging Het
Ppp1r13l A C 7: 19,102,726 (GRCm39) E47A possibly damaging Het
Prdm5 C T 6: 65,904,976 (GRCm39) H536Y probably damaging Het
Prickle2 T C 6: 92,353,451 (GRCm39) R728G possibly damaging Het
Prkca A T 11: 107,874,820 (GRCm39) V374E possibly damaging Het
Prss3 A T 6: 41,352,044 (GRCm39) L73* probably null Het
Prss51 G A 14: 64,333,489 (GRCm39) D33N probably damaging Het
Rfwd3 A G 8: 112,006,659 (GRCm39) V479A probably damaging Het
Rpl36a-ps1 G A 14: 99,231,666 (GRCm39) T24I probably benign Het
Rps6ka5 T C 12: 100,582,327 (GRCm39) I182V possibly damaging Het
Saa2 T A 7: 46,402,933 (GRCm39) D61E probably damaging Het
Samd3 A T 10: 26,106,006 (GRCm39) I22F probably benign Het
Sap130 C T 18: 31,800,057 (GRCm39) P403L probably damaging Het
Sap130 A G 18: 31,844,268 (GRCm39) T813A probably damaging Het
Scfd2 A G 5: 74,372,988 (GRCm39) F629S probably damaging Het
Sec61a1 A T 6: 88,489,585 (GRCm39) F119I probably benign Het
Serpinb9 T A 13: 33,194,768 (GRCm39) F175I probably damaging Het
Slc12a3 G T 8: 95,092,477 (GRCm39) C966F probably damaging Het
Sptbn4 A G 7: 27,127,693 (GRCm39) V169A probably benign Het
Tfec T A 6: 16,835,232 (GRCm39) H182L probably benign Het
Tigd5 T C 15: 75,782,268 (GRCm39) V210A probably benign Het
Tssc4 G A 7: 142,623,718 (GRCm39) E9K possibly damaging Het
Txk C G 5: 72,893,726 (GRCm39) C18S unknown Het
Uaca G A 9: 60,757,487 (GRCm39) probably null Het
Vmn2r1 A C 3: 63,993,922 (GRCm39) K89N probably damaging Het
Zfp160 G A 17: 21,246,655 (GRCm39) E402K probably benign Het
Other mutations in Synj1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01143:Synj1 APN 16 90,748,864 (GRCm39) missense probably damaging 1.00
IGL01468:Synj1 APN 16 90,807,060 (GRCm39) splice site probably benign
IGL02209:Synj1 APN 16 90,784,307 (GRCm39) missense probably damaging 0.97
IGL02452:Synj1 APN 16 90,758,253 (GRCm39) splice site probably benign
IGL02619:Synj1 APN 16 90,770,933 (GRCm39) missense probably damaging 1.00
IGL02650:Synj1 APN 16 90,773,584 (GRCm39) missense probably benign 0.03
IGL02708:Synj1 APN 16 90,788,350 (GRCm39) missense probably damaging 1.00
IGL02863:Synj1 APN 16 90,758,322 (GRCm39) missense possibly damaging 0.94
IGL03131:Synj1 APN 16 90,785,056 (GRCm39) missense probably damaging 0.99
IGL03295:Synj1 APN 16 90,735,318 (GRCm39) missense probably benign 0.14
IGL03356:Synj1 APN 16 90,784,280 (GRCm39) missense probably damaging 1.00
PIT1430001:Synj1 UTSW 16 90,761,396 (GRCm39) missense probably damaging 1.00
R0179:Synj1 UTSW 16 90,761,519 (GRCm39) missense possibly damaging 0.80
R0396:Synj1 UTSW 16 90,735,528 (GRCm39) missense probably benign
R0426:Synj1 UTSW 16 90,764,242 (GRCm39) missense probably damaging 1.00
R0486:Synj1 UTSW 16 90,735,151 (GRCm39) utr 3 prime probably benign
R0515:Synj1 UTSW 16 90,790,910 (GRCm39) missense possibly damaging 0.93
R0535:Synj1 UTSW 16 90,744,975 (GRCm39) missense possibly damaging 0.80
R0697:Synj1 UTSW 16 90,757,503 (GRCm39) missense probably benign 0.44
R0698:Synj1 UTSW 16 90,757,503 (GRCm39) missense probably benign 0.44
R0945:Synj1 UTSW 16 90,757,333 (GRCm39) missense possibly damaging 0.90
R1327:Synj1 UTSW 16 90,743,743 (GRCm39) missense probably benign 0.05
R1562:Synj1 UTSW 16 90,784,290 (GRCm39) missense probably benign 0.09
R1732:Synj1 UTSW 16 90,761,118 (GRCm39) missense probably damaging 0.99
R1752:Synj1 UTSW 16 90,735,361 (GRCm39) missense probably benign
R1785:Synj1 UTSW 16 90,761,405 (GRCm39) missense probably damaging 1.00
R1786:Synj1 UTSW 16 90,761,405 (GRCm39) missense probably damaging 1.00
R2011:Synj1 UTSW 16 90,735,584 (GRCm39) missense probably damaging 1.00
R2012:Synj1 UTSW 16 90,735,584 (GRCm39) missense probably damaging 1.00
R2065:Synj1 UTSW 16 90,788,537 (GRCm39) critical splice acceptor site probably null
R2862:Synj1 UTSW 16 90,766,217 (GRCm39) missense probably damaging 1.00
R3026:Synj1 UTSW 16 90,775,622 (GRCm39) missense probably damaging 1.00
R3151:Synj1 UTSW 16 90,757,514 (GRCm39) missense probably damaging 0.96
R3946:Synj1 UTSW 16 90,806,984 (GRCm39) missense possibly damaging 0.48
R3971:Synj1 UTSW 16 90,788,491 (GRCm39) missense probably damaging 1.00
R4472:Synj1 UTSW 16 90,766,069 (GRCm39) critical splice donor site probably null
R4547:Synj1 UTSW 16 90,785,170 (GRCm39) missense possibly damaging 0.51
R4647:Synj1 UTSW 16 90,770,877 (GRCm39) missense probably damaging 1.00
R4739:Synj1 UTSW 16 90,752,307 (GRCm39) missense probably benign 0.00
R5027:Synj1 UTSW 16 90,737,407 (GRCm39) splice site probably null
R5428:Synj1 UTSW 16 90,788,406 (GRCm39) missense probably damaging 0.98
R5586:Synj1 UTSW 16 90,806,865 (GRCm39) intron probably benign
R5769:Synj1 UTSW 16 90,735,141 (GRCm39) utr 3 prime probably benign
R6005:Synj1 UTSW 16 90,766,174 (GRCm39) missense probably damaging 1.00
R6119:Synj1 UTSW 16 90,735,877 (GRCm39) missense probably benign 0.30
R6313:Synj1 UTSW 16 90,743,703 (GRCm39) missense probably benign 0.00
R6324:Synj1 UTSW 16 90,735,518 (GRCm39) missense probably benign 0.00
R6549:Synj1 UTSW 16 90,735,565 (GRCm39) missense probably benign
R6696:Synj1 UTSW 16 90,757,340 (GRCm39) missense probably damaging 0.98
R6698:Synj1 UTSW 16 90,757,340 (GRCm39) missense probably damaging 0.98
R6861:Synj1 UTSW 16 90,760,768 (GRCm39) nonsense probably null
R7008:Synj1 UTSW 16 90,790,833 (GRCm39) missense probably damaging 1.00
R7153:Synj1 UTSW 16 90,744,978 (GRCm39) missense probably benign 0.04
R7393:Synj1 UTSW 16 90,748,887 (GRCm39) missense probably damaging 0.99
R7560:Synj1 UTSW 16 90,737,371 (GRCm39) missense probably benign
R7724:Synj1 UTSW 16 90,758,387 (GRCm39) missense probably damaging 0.99
R7913:Synj1 UTSW 16 90,788,315 (GRCm39) missense possibly damaging 0.83
R8326:Synj1 UTSW 16 90,785,084 (GRCm39) missense probably benign 0.12
R8707:Synj1 UTSW 16 90,752,319 (GRCm39) missense probably benign 0.02
R8711:Synj1 UTSW 16 90,806,971 (GRCm39) missense probably damaging 0.98
R8767:Synj1 UTSW 16 90,758,406 (GRCm39) missense probably damaging 1.00
R8911:Synj1 UTSW 16 90,775,622 (GRCm39) missense probably damaging 1.00
R9052:Synj1 UTSW 16 90,735,728 (GRCm39) missense probably benign 0.00
R9124:Synj1 UTSW 16 90,735,513 (GRCm39) missense probably benign 0.00
R9307:Synj1 UTSW 16 90,785,095 (GRCm39) missense probably damaging 0.98
R9408:Synj1 UTSW 16 90,741,740 (GRCm39) missense probably benign 0.27
R9458:Synj1 UTSW 16 90,766,200 (GRCm39) missense probably benign 0.05
R9567:Synj1 UTSW 16 90,790,912 (GRCm39) missense possibly damaging 0.79
R9651:Synj1 UTSW 16 90,757,343 (GRCm39) missense possibly damaging 0.56
R9651:Synj1 UTSW 16 90,735,412 (GRCm39) missense probably benign 0.00
R9707:Synj1 UTSW 16 90,758,300 (GRCm39) missense possibly damaging 0.91
R9730:Synj1 UTSW 16 90,757,552 (GRCm39) missense probably damaging 0.98
R9732:Synj1 UTSW 16 90,761,414 (GRCm39) missense probably damaging 1.00
Z1176:Synj1 UTSW 16 90,784,228 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAGGAAAGTTGTCGTCTTCGTC -3'
(R):5'- TTCTGCATCGCAAAGTCAAG -3'

Sequencing Primer
(F):5'- AAAGTTGTCGTCTTCGTCAAAGG -3'
(R):5'- CGCAAAGTCAAGTTAACCCTTTGAG -3'
Posted On 2019-10-17