Incidental Mutation 'IGL02576:Esyt3'
ID299176
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esyt3
Ensembl Gene ENSMUSG00000037681
Gene Nameextended synaptotagmin-like protein 3
SynonymsFam62c, D9Ertd280e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02576
Quality Score
Status
Chromosome9
Chromosomal Location99309963-99358557 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 99315225 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 851 (R851G)
Ref Sequence ENSEMBL: ENSMUSP00000038757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042158] [ENSMUST00000187520]
Predicted Effect probably benign
Transcript: ENSMUST00000042158
AA Change: R851G

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000038757
Gene: ENSMUSG00000037681
AA Change: R851G

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
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,433,455 I232M probably benign Het
Ace G A 11: 105,974,111 V537M probably damaging Het
Alg1 A G 16: 5,244,529 E425G possibly damaging Het
Cacng3 G A 7: 122,671,910 S46N probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cfap65 A G 1: 74,903,458 S1646P probably damaging Het
Col20a1 C T 2: 181,013,405 Q1152* probably null Het
D130043K22Rik A C 13: 24,856,870 T92P possibly damaging Het
Drc3 T C 11: 60,370,551 M176T probably benign Het
Fbxo43 A G 15: 36,152,175 V496A probably benign Het
Fut4 T A 9: 14,751,405 M198L probably damaging Het
Galt C T 4: 41,755,953 probably benign Het
Glipr1l1 A G 10: 112,060,319 K4E possibly damaging Het
Gm9945 A G 11: 53,480,351 probably benign Het
Hspa12a A C 19: 58,799,410 I660R possibly damaging Het
Htr3b T C 9: 48,945,504 I225V possibly damaging Het
Igf2r T C 17: 12,748,763 D23G possibly damaging Het
Igsf5 A G 16: 96,386,581 I158V probably benign Het
Itgae A G 11: 73,118,505 Y505C possibly damaging Het
Kif16b A G 2: 142,862,545 probably benign Het
Kif26b T C 1: 178,916,347 V1336A probably benign Het
Kmt2d A G 15: 98,864,120 S450P unknown Het
Lexm T C 4: 106,591,628 D411G possibly damaging Het
Lhfpl2 G A 13: 94,174,226 M1I probably null Het
Lig4 A G 8: 9,971,116 I888T probably damaging Het
Msh4 G A 3: 153,867,746 T563M probably damaging Het
Muc5ac C T 7: 141,817,044 A3238V probably benign Het
Myo15b A G 11: 115,890,053 S1246G probably null Het
Olfr193 T C 16: 59,109,771 I280V probably benign Het
Pecam1 G A 11: 106,671,774 T599M probably damaging Het
Phf3 G A 1: 30,830,036 P644S probably benign Het
Pkd1l1 A C 11: 8,844,560 F2317C possibly damaging Het
Prdm4 A G 10: 85,900,937 M613T possibly damaging Het
Prim2 A T 1: 33,484,717 I371N probably damaging Het
Ptprs T C 17: 56,414,958 D1316G probably damaging Het
Rnf19b C T 4: 129,073,522 R285* probably null Het
Secisbp2 A G 13: 51,670,858 N381D possibly damaging Het
Slc28a2 T C 2: 122,458,171 I586T probably damaging Het
Spef1 T C 2: 131,174,642 H11R possibly damaging Het
Taar4 T C 10: 23,961,011 L173S probably damaging Het
Tas2r123 T C 6: 132,847,740 F200S possibly damaging Het
Tex16 T A X: 112,118,956 L384Q probably benign Het
Tox2 A G 2: 163,276,180 Q168R probably damaging Het
Trim5 T A 7: 104,278,417 E172V probably damaging Het
Txndc11 G A 16: 11,075,017 probably benign Het
Vmn1r232 T A 17: 20,913,913 I142F probably benign Het
Zdhhc25 A T 15: 88,601,269 H269L probably benign Het
Znrf4 T C 17: 56,512,199 D36G probably damaging Het
Other mutations in Esyt3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02596:Esyt3 APN 9 99328015 missense probably benign 0.02
IGL02716:Esyt3 APN 9 99317224 missense probably damaging 1.00
IGL02836:Esyt3 APN 9 99320907 splice site probably benign
IGL03372:Esyt3 APN 9 99336056 splice site probably benign
R0008:Esyt3 UTSW 9 99338807 missense possibly damaging 0.89
R1217:Esyt3 UTSW 9 99318044 missense possibly damaging 0.92
R1395:Esyt3 UTSW 9 99316782 unclassified probably benign
R1478:Esyt3 UTSW 9 99318066 missense probably benign 0.03
R1710:Esyt3 UTSW 9 99336191 missense probably benign
R1792:Esyt3 UTSW 9 99358116 nonsense probably null
R1913:Esyt3 UTSW 9 99320311 missense probably benign 0.00
R3792:Esyt3 UTSW 9 99315281 missense possibly damaging 0.93
R3793:Esyt3 UTSW 9 99315281 missense possibly damaging 0.93
R3937:Esyt3 UTSW 9 99336192 missense probably benign
R3964:Esyt3 UTSW 9 99320322 missense probably damaging 1.00
R3965:Esyt3 UTSW 9 99320322 missense probably damaging 1.00
R4061:Esyt3 UTSW 9 99320838 missense probably damaging 1.00
R4088:Esyt3 UTSW 9 99324237 missense probably benign
R4436:Esyt3 UTSW 9 99358025 intron probably benign
R5274:Esyt3 UTSW 9 99318297 missense probably benign
R5590:Esyt3 UTSW 9 99358413 utr 5 prime probably benign
R5705:Esyt3 UTSW 9 99318207 missense probably benign 0.00
R6543:Esyt3 UTSW 9 99338772 missense possibly damaging 0.77
R6738:Esyt3 UTSW 9 99320293 missense probably damaging 0.98
R7000:Esyt3 UTSW 9 99322153 missense probably damaging 0.99
R7019:Esyt3 UTSW 9 99315285 missense probably benign 0.11
R7104:Esyt3 UTSW 9 99338787 missense probably damaging 1.00
R7130:Esyt3 UTSW 9 99318170 missense probably benign
R7141:Esyt3 UTSW 9 99321440 missense probably benign 0.12
R7145:Esyt3 UTSW 9 99319574 missense probably damaging 1.00
R7447:Esyt3 UTSW 9 99321562 missense probably damaging 1.00
R7459:Esyt3 UTSW 9 99358064 missense probably benign 0.00
R7767:Esyt3 UTSW 9 99324971 missense probably benign 0.00
Posted On2015-04-16