Incidental Mutation 'R3793:Esyt3'
ID 272658
Institutional Source Beutler Lab
Gene Symbol Esyt3
Ensembl Gene ENSMUSG00000037681
Gene Name extended synaptotagmin-like protein 3
Synonyms D9Ertd280e, Fam62c
MMRRC Submission 040755-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3793 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 99192016-99240610 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 99197334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 832 (F832Y)
Ref Sequence ENSEMBL: ENSMUSP00000038757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042158] [ENSMUST00000187520]
AlphaFold Q5DTI8
Predicted Effect possibly damaging
Transcript: ENSMUST00000042158
AA Change: F832Y

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: F832Y

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: ENSMUST00000186626
Predicted Effect probably benign
Transcript: ENSMUST00000187520
SMART Domains Protein: ENSMUSP00000140567
Gene: ENSMUSG00000037681

DomainStartEndE-ValueType
C2 2 83 5.9e-12 SMART
low complexity region 94 104 N/A INTRINSIC
C2 121 198 2.2e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195185
Meta Mutation Damage Score 0.0995 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.4%
Validation Efficiency 98% (50/51)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,259,889 (GRCm39) T35A probably benign Het
Arhgap32 T A 9: 32,166,669 (GRCm39) S435R probably damaging Het
Asic1 A T 15: 99,569,906 (GRCm39) K76* probably null Het
B9d1 A G 11: 61,398,448 (GRCm39) probably benign Het
Casd1 T C 6: 4,619,876 (GRCm39) V207A possibly damaging Het
Cass4 C T 2: 172,274,478 (GRCm39) P753L probably damaging Het
Cnfn T C 7: 25,067,805 (GRCm39) N45S probably benign Het
Col14a1 G T 15: 55,226,909 (GRCm39) D220Y unknown Het
Csn1s1 T A 5: 87,828,702 (GRCm39) Y274* probably null Het
Cyp2c69 T C 19: 39,869,600 (GRCm39) T140A probably benign Het
Dlg2 A T 7: 91,459,743 (GRCm39) probably benign Het
Esp16 T C 17: 39,848,739 (GRCm39) I11T possibly damaging Het
Ift172 C T 5: 31,414,925 (GRCm39) D1366N possibly damaging Het
Itga4 A G 2: 79,109,472 (GRCm39) T224A probably benign Het
Itprid1 A T 6: 55,952,588 (GRCm39) M844L possibly damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Krt71 C T 15: 101,651,345 (GRCm39) S46N probably damaging Het
Lhx1 A G 11: 84,412,726 (GRCm39) S65P probably benign Het
Lingo4 A G 3: 94,309,685 (GRCm39) S208G probably benign Het
Lrrc2 T A 9: 110,795,585 (GRCm39) C123* probably null Het
Nfrkb A T 9: 31,321,228 (GRCm39) probably benign Het
Nfx1 T A 4: 41,004,357 (GRCm39) C709* probably null Het
Nlrp14 A T 7: 106,781,481 (GRCm39) Q226L probably benign Het
Ocln T C 13: 100,635,402 (GRCm39) R496G possibly damaging Het
Or2b2b T C 13: 21,859,153 (GRCm39) probably null Het
Or7e173 T A 9: 19,938,359 (GRCm39) I292F probably damaging Het
Osgepl1 T C 1: 53,359,406 (GRCm39) I305T probably damaging Het
Ovgp1 A G 3: 105,887,487 (GRCm39) N266S probably benign Het
Per1 A G 11: 69,000,127 (GRCm39) E1273G probably benign Het
Plch1 A G 3: 63,605,252 (GRCm39) Y1542H probably damaging Het
Pold1 A G 7: 44,190,994 (GRCm39) F252L probably damaging Het
Ptk2b A T 14: 66,407,700 (GRCm39) D607E probably damaging Het
Sdf4 T A 4: 156,086,916 (GRCm39) probably null Het
Sirt4 T C 5: 115,618,351 (GRCm39) D241G probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slco1b2 A G 6: 141,622,033 (GRCm39) Y531C probably damaging Het
Tmem200a A T 10: 25,870,087 (GRCm39) S61T probably damaging Het
Trp53bp1 T C 2: 121,030,810 (GRCm39) I1784V probably damaging Het
Uba2 A C 7: 33,845,722 (GRCm39) V467G probably damaging Het
Ubr3 T C 2: 69,747,525 (GRCm39) S263P possibly damaging Het
Ugt2b35 A G 5: 87,149,465 (GRCm39) T239A probably benign Het
Wac T C 18: 7,920,190 (GRCm39) V348A possibly damaging Het
Wdr3 A T 3: 100,059,281 (GRCm39) M346K probably benign Het
Zfp607a A T 7: 27,578,331 (GRCm39) H467L probably benign 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
IGL03372:Esyt3 APN 9 99,218,109 (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
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
Predicted Primers PCR Primer
(F):5'- GGAGTAGGTGCCACATACTTATGG -3'
(R):5'- GACTAAGACGCACTGAGAGC -3'

Sequencing Primer
(F):5'- GGTGCCACATACTTATGGAATATTG -3'
(R):5'- ACTGAGAGCCTGGGAGC -3'
Posted On 2015-03-25