Incidental Mutation 'R0426:Synj1'
ID 38689
Institutional Source Beutler Lab
Gene Symbol Synj1
Ensembl Gene ENSMUSG00000022973
Gene Name synaptojanin 1
Synonyms A930006D20Rik
MMRRC Submission 038628-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0426 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 90732980-90808196 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 90764242 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 65 (A65E)
Ref Sequence ENSEMBL: ENSMUSP00000156148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121759] [ENSMUST00000130813] [ENSMUST00000170853] [ENSMUST00000231472]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000118246
Predicted Effect unknown
Transcript: ENSMUST00000118390
AA Change: A600E
SMART Domains Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: A600E

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 damaging
Transcript: ENSMUST00000121759
AA Change: A626E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: A626E

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 damaging
Transcript: ENSMUST00000130813
AA Change: A581E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119712
Gene: ENSMUSG00000022973
AA Change: A581E

DomainStartEndE-ValueType
Pfam:Syja_N 59 346 1.4e-86 PFAM
low complexity region 441 459 N/A INTRINSIC
IPPc 526 693 1.8e-9 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000170853
AA Change: A586E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: A586E

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 damaging
Transcript: ENSMUST00000231472
AA Change: A65E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.9439 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 96% (86/90)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G T 11: 109,845,853 (GRCm39) probably benign Het
Acadl A T 1: 66,880,805 (GRCm39) F320L probably damaging Het
Acsbg1 T C 9: 54,530,030 (GRCm39) D222G probably benign Het
Anapc15 A G 7: 101,547,240 (GRCm39) T39A probably benign Het
Ano3 A T 2: 110,491,519 (GRCm39) V919E probably damaging Het
Arhgef12 T C 9: 42,882,286 (GRCm39) probably null Het
Atad5 T A 11: 80,003,658 (GRCm39) I1091N probably benign Het
Atf1 A T 15: 100,130,708 (GRCm39) H26L possibly damaging Het
Atp10a T C 7: 58,434,482 (GRCm39) M252T probably benign Het
Btbd8 C T 5: 107,658,239 (GRCm39) T1603I probably damaging Het
Cd55 C T 1: 130,376,109 (GRCm39) R347H probably benign Het
Cdc27 A C 11: 104,403,853 (GRCm39) probably null Het
Cdh9 G A 15: 16,823,540 (GRCm39) probably null Het
Cdk11b T C 4: 155,726,969 (GRCm39) probably benign Het
Cep70 A G 9: 99,179,737 (GRCm39) D567G probably benign Het
Cep78 A T 19: 15,948,334 (GRCm39) Y382* probably null Het
Cgas G A 9: 78,343,020 (GRCm39) probably benign Het
Col9a2 T C 4: 120,901,857 (GRCm39) probably benign Het
Cyp2d12 G A 15: 82,443,164 (GRCm39) D409N probably benign Het
Ddx39a A G 8: 84,448,398 (GRCm39) T217A probably benign Het
Dennd1b T A 1: 139,097,934 (GRCm39) D733E probably benign Het
Dicer1 A G 12: 104,668,801 (GRCm39) S1294P probably damaging Het
Dnah3 T C 7: 119,542,795 (GRCm39) E3539G probably benign Het
Dnmbp A G 19: 43,840,875 (GRCm39) probably benign Het
Dysf T C 6: 84,126,739 (GRCm39) L1332P probably damaging Het
F5 A G 1: 164,010,409 (GRCm39) D380G probably damaging Het
Fam171a1 T C 2: 3,226,433 (GRCm39) V522A probably benign Het
Fhip1b A C 7: 105,038,680 (GRCm39) C186W probably damaging Het
Galr2 C A 11: 116,172,517 (GRCm39) A69D probably damaging Het
Grk2 T C 19: 4,340,628 (GRCm39) probably null Het
Gtf3c1 A T 7: 125,262,188 (GRCm39) Y1119* probably null Het
Hgd A T 16: 37,409,047 (GRCm39) probably benign Het
Ildr2 G T 1: 166,136,468 (GRCm39) V436L probably benign Het
Intu G A 3: 40,629,735 (GRCm39) C355Y probably damaging Het
Irf2bpl G T 12: 86,929,870 (GRCm39) P268T probably benign Het
Jarid2 T C 13: 44,994,358 (GRCm39) probably null Het
Jup A T 11: 100,263,227 (GRCm39) M716K probably benign Het
Kank1 G A 19: 25,388,837 (GRCm39) V809I probably damaging Het
Kdm1b T A 13: 47,217,720 (GRCm39) probably benign Het
Kdm3a C T 6: 71,577,739 (GRCm39) C687Y probably damaging Het
Kdm5d T A Y: 942,437 (GRCm39) probably benign Het
Kifap3 T A 1: 163,693,121 (GRCm39) probably benign Het
Macf1 T A 4: 123,377,453 (GRCm39) K1400* probably null Het
Majin A G 19: 6,262,147 (GRCm39) probably benign Het
Mctp1 A G 13: 77,168,940 (GRCm39) I846V probably benign Het
Mrgpra2b T A 7: 47,113,875 (GRCm39) I286F possibly damaging Het
Neil3 T G 8: 54,062,431 (GRCm39) probably benign Het
Nox3 G T 17: 3,745,838 (GRCm39) N23K probably damaging Het
Nt5c3 T C 6: 56,860,797 (GRCm39) K219E probably benign Het
Or1e29 T A 11: 73,667,263 (GRCm39) M297L probably benign Het
Or52b4i T A 7: 102,191,893 (GRCm39) I250N probably damaging Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or6b13 A C 7: 139,782,029 (GRCm39) F218C possibly damaging Het
Or6d13 A T 6: 116,517,446 (GRCm39) N11Y probably damaging Het
Or8g34 T C 9: 39,372,889 (GRCm39) L54P probably damaging Het
Pacsin2 A G 15: 83,263,996 (GRCm39) V347A possibly damaging Het
Pcdhb7 A T 18: 37,475,857 (GRCm39) E331V probably damaging Het
Pcid2 A C 8: 13,131,262 (GRCm39) probably null Het
Pcsk9 T C 4: 106,307,274 (GRCm39) D323G possibly damaging Het
Pdhb T C 14: 8,169,801 (GRCm38) E203G probably damaging Het
Phlpp2 A G 8: 110,655,095 (GRCm39) Y630C probably benign Het
Pidd1 C T 7: 141,019,046 (GRCm39) A812T probably damaging Het
Plau G A 14: 20,892,382 (GRCm39) R389H probably benign Het
Plekhg6 G A 6: 125,341,592 (GRCm39) probably null Het
Ppox T C 1: 171,105,322 (GRCm39) Y321C probably damaging Het
Pxdn A G 12: 30,037,065 (GRCm39) N281S possibly damaging Het
Pycr3 A T 15: 75,790,237 (GRCm39) M138K probably benign Het
Radil T C 5: 142,483,628 (GRCm39) Y526C probably damaging Het
Ranbp3 C A 17: 57,014,169 (GRCm39) D233E probably benign Het
Rhpn1 A G 15: 75,583,721 (GRCm39) Q402R possibly damaging Het
Sec23b T A 2: 144,410,532 (GRCm39) probably benign Het
Sel1l2 A T 2: 140,082,832 (GRCm39) L602* probably null Het
Sema5b G A 16: 35,466,725 (GRCm39) G209D probably damaging Het
Svep1 T C 4: 58,073,333 (GRCm39) Y1992C possibly damaging Het
Syncrip T A 9: 88,338,312 (GRCm39) probably benign Het
Taar2 G A 10: 23,817,393 (GRCm39) R311H probably benign Het
Tecrl T C 5: 83,502,610 (GRCm39) probably benign Het
Tenm4 G T 7: 96,427,058 (GRCm39) G698C probably damaging Het
Tmem209 G A 6: 30,491,181 (GRCm39) L259F probably damaging Het
Tmem247 G A 17: 87,225,931 (GRCm39) E124K possibly damaging Het
Tnks2 C A 19: 36,830,221 (GRCm39) A218E probably damaging Het
Tppp T A 13: 74,169,430 (GRCm39) F57I probably damaging Het
Trim36 A G 18: 46,305,592 (GRCm39) W452R probably damaging Het
Vars2 A T 17: 35,975,476 (GRCm39) V262E probably damaging Het
Vmn2r92 C T 17: 18,388,219 (GRCm39) A408V probably damaging Het
Zfp516 G T 18: 82,973,897 (GRCm39) A32S probably benign Het
Zfy2 G T Y: 2,107,348 (GRCm39) L429I possibly damaging 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
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
R7510:Synj1 UTSW 16 90,735,565 (GRCm39) missense probably benign
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'- AGAAAAGCCATCTTGCCAGTTCCG -3'
(R):5'- AAAGCTTAGAGCCTTCCAGCTTCAG -3'

Sequencing Primer
(F):5'- AGACTCATACCAAAAATACTGAGAAC -3'
(R):5'- ACTCAGTTCCCCCAGTAAGG -3'
Posted On 2013-05-23