Incidental Mutation 'IGL03372:Esyt3'
ID 420371
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esyt3
Ensembl Gene ENSMUSG00000037681
Gene Name extended synaptotagmin-like protein 3
Synonyms D9Ertd280e, Fam62c
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03372
Quality Score
Status
Chromosome 9
Chromosomal Location 99192016-99240610 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 99218109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042158]
AlphaFold Q5DTI8
Predicted Effect probably benign
Transcript: ENSMUST00000042158
SMART Domains Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681

DomainStartEndE-ValueType
transmembrane domain 54 76 N/A INTRINSIC
Pfam:SMP_LBD 118 295 3.7e-63 PFAM
C2 311 411 9.23e-20 SMART
low complexity region 422 432 N/A INTRINSIC
C2 449 563 6.6e-7 SMART
low complexity region 658 673 N/A INTRINSIC
low complexity region 729 739 N/A INTRINSIC
C2 775 880 4.91e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187365
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice are viable and fertile without overt morphological defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,911,362 (GRCm39) A1161V probably benign Het
Alpi A G 1: 87,028,350 (GRCm39) probably benign Het
Asxl1 A T 2: 153,242,333 (GRCm39) N961I probably damaging Het
Bcl2l10 A G 9: 75,255,329 (GRCm39) I49V probably benign Het
Bod1l T C 5: 41,962,578 (GRCm39) probably benign Het
Ccl20 A G 1: 83,095,597 (GRCm39) M54V probably benign Het
Cep72 A C 13: 74,191,637 (GRCm39) L200V possibly damaging Het
Clic4 T C 4: 134,945,925 (GRCm39) D164G probably damaging Het
Col5a3 G A 9: 20,686,624 (GRCm39) P1334S unknown Het
Dab2 T C 15: 6,459,030 (GRCm39) L293P probably damaging Het
Ddx50 A T 10: 62,479,109 (GRCm39) S140T probably benign Het
Dnah6 A T 6: 73,052,833 (GRCm39) M2897K probably benign Het
Dnmt3a A G 12: 3,952,666 (GRCm39) E721G probably damaging Het
Fat4 G T 3: 38,943,283 (GRCm39) K725N possibly damaging Het
Fezf1 T C 6: 23,246,909 (GRCm39) I308V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapdhs T C 7: 30,432,674 (GRCm39) probably benign Het
Gm10109 A T 7: 43,871,126 (GRCm39) probably benign Het
Gpd2 G A 2: 57,245,519 (GRCm39) V405I probably damaging Het
Gtf2e1 T C 16: 37,356,077 (GRCm39) probably benign Het
Iqca1 A G 1: 90,072,691 (GRCm39) I63T possibly damaging Het
Kcmf1 A C 6: 72,826,546 (GRCm39) L161R probably damaging Het
Kif19a G T 11: 114,670,044 (GRCm39) V80L probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Krtap19-2 A G 16: 88,670,774 (GRCm39) probably benign Het
Ksr2 T A 5: 117,840,783 (GRCm39) I575N possibly damaging Het
L3mbtl1 A T 2: 162,813,077 (GRCm39) probably benign Het
Larp1b A T 3: 40,978,962 (GRCm39) H6L possibly damaging Het
Map4k2 T A 19: 6,392,279 (GRCm39) probably benign Het
Mdh1b T C 1: 63,759,154 (GRCm39) H146R possibly damaging Het
Morc2a T C 11: 3,631,813 (GRCm39) probably benign Het
Mvd A G 8: 123,170,113 (GRCm39) probably benign Het
Myo7b C T 18: 32,131,654 (GRCm39) S514N probably damaging Het
Nav1 A T 1: 135,378,641 (GRCm39) I1610K probably damaging Het
Nbas T C 12: 13,584,473 (GRCm39) L2095P probably damaging Het
Nrros T C 16: 31,963,588 (GRCm39) N115S probably damaging Het
Or5p52 T C 7: 107,502,577 (GRCm39) Y218H probably damaging Het
Otud6b A C 4: 14,812,519 (GRCm39) I276R possibly damaging Het
P2rx6 G A 16: 17,385,356 (GRCm39) E150K probably damaging Het
Pan2 T A 10: 128,150,996 (GRCm39) L771Q probably benign Het
Pbrm1 T A 14: 30,806,976 (GRCm39) N1087K probably benign Het
Pcdhb5 G T 18: 37,453,713 (GRCm39) R31L probably benign Het
Proser3 A C 7: 30,242,993 (GRCm39) S195A probably damaging Het
Rad50 T C 11: 53,586,121 (GRCm39) K292E probably benign Het
Rbm27 G A 18: 42,438,781 (GRCm39) R394H probably damaging Het
Samd9l A G 6: 3,375,314 (GRCm39) I649T probably damaging Het
Skint3 G A 4: 112,113,103 (GRCm39) probably benign Het
Slc4a4 T A 5: 89,304,285 (GRCm39) L576Q probably damaging Het
Snx2 A G 18: 53,349,463 (GRCm39) D408G probably damaging Het
Taar2 T C 10: 23,817,069 (GRCm39) V203A probably benign Het
Tdrd6 C T 17: 43,936,459 (GRCm39) V1530M probably damaging Het
Tsc2 A C 17: 24,838,444 (GRCm39) L515R probably damaging Het
Unc13a A T 8: 72,108,353 (GRCm39) M500K probably damaging Het
Vmn1r75 A G 7: 11,614,496 (GRCm39) D76G probably benign Het
Whrn T C 4: 63,336,855 (GRCm39) D127G probably damaging Het
Other mutations in Esyt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02576:Esyt3 APN 9 99,197,278 (GRCm39) missense probably benign 0.07
IGL02596:Esyt3 APN 9 99,210,068 (GRCm39) missense probably benign 0.02
IGL02716:Esyt3 APN 9 99,199,277 (GRCm39) missense probably damaging 1.00
IGL02836:Esyt3 APN 9 99,202,960 (GRCm39) splice site probably benign
R0008:Esyt3 UTSW 9 99,220,860 (GRCm39) missense possibly damaging 0.89
R1217:Esyt3 UTSW 9 99,200,097 (GRCm39) missense possibly damaging 0.92
R1395:Esyt3 UTSW 9 99,198,835 (GRCm39) unclassified probably benign
R1478:Esyt3 UTSW 9 99,200,119 (GRCm39) missense probably benign 0.03
R1710:Esyt3 UTSW 9 99,218,244 (GRCm39) missense probably benign
R1792:Esyt3 UTSW 9 99,240,169 (GRCm39) nonsense probably null
R1913:Esyt3 UTSW 9 99,202,364 (GRCm39) missense probably benign 0.00
R3792:Esyt3 UTSW 9 99,197,334 (GRCm39) missense possibly damaging 0.93
R3793:Esyt3 UTSW 9 99,197,334 (GRCm39) missense possibly damaging 0.93
R3937:Esyt3 UTSW 9 99,218,245 (GRCm39) missense probably benign
R3964:Esyt3 UTSW 9 99,202,375 (GRCm39) missense probably damaging 1.00
R3965:Esyt3 UTSW 9 99,202,375 (GRCm39) missense probably damaging 1.00
R4061:Esyt3 UTSW 9 99,202,891 (GRCm39) missense probably damaging 1.00
R4088:Esyt3 UTSW 9 99,206,290 (GRCm39) missense probably benign
R4436:Esyt3 UTSW 9 99,240,078 (GRCm39) intron probably benign
R5274:Esyt3 UTSW 9 99,200,350 (GRCm39) missense probably benign
R5590:Esyt3 UTSW 9 99,240,466 (GRCm39) utr 5 prime probably benign
R5705:Esyt3 UTSW 9 99,200,260 (GRCm39) missense probably benign 0.00
R6543:Esyt3 UTSW 9 99,220,825 (GRCm39) missense possibly damaging 0.77
R6738:Esyt3 UTSW 9 99,202,346 (GRCm39) missense probably damaging 0.98
R7000:Esyt3 UTSW 9 99,204,206 (GRCm39) missense probably damaging 0.99
R7019:Esyt3 UTSW 9 99,197,338 (GRCm39) missense probably benign 0.11
R7104:Esyt3 UTSW 9 99,220,840 (GRCm39) missense probably damaging 1.00
R7130:Esyt3 UTSW 9 99,200,223 (GRCm39) missense probably benign
R7141:Esyt3 UTSW 9 99,203,493 (GRCm39) missense probably benign 0.12
R7145:Esyt3 UTSW 9 99,201,627 (GRCm39) missense probably damaging 1.00
R7447:Esyt3 UTSW 9 99,203,615 (GRCm39) missense probably damaging 1.00
R7459:Esyt3 UTSW 9 99,240,117 (GRCm39) missense probably benign 0.00
R7767:Esyt3 UTSW 9 99,207,024 (GRCm39) missense probably benign 0.00
R8397:Esyt3 UTSW 9 99,209,966 (GRCm39) missense probably benign 0.01
R8560:Esyt3 UTSW 9 99,202,375 (GRCm39) missense probably damaging 1.00
R8882:Esyt3 UTSW 9 99,202,909 (GRCm39) missense probably damaging 0.99
R9320:Esyt3 UTSW 9 99,194,044 (GRCm39) missense probably damaging 1.00
R9537:Esyt3 UTSW 9 99,199,292 (GRCm39) missense probably damaging 0.98
R9786:Esyt3 UTSW 9 99,194,038 (GRCm39) missense possibly damaging 0.64
Posted On 2016-08-02