Incidental Mutation 'IGL02986:Esyt1'
ID 406721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esyt1
Ensembl Gene ENSMUSG00000025366
Gene Name extended synaptotagmin-like protein 1
Synonyms Mbc2, Fam62a, vp115
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # IGL02986
Quality Score
Status
Chromosome 10
Chromosomal Location 128346117-128361728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 128352626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 693 (V693A)
Ref Sequence ENSEMBL: ENSMUSP00000026427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026427]
AlphaFold Q3U7R1
Predicted Effect probably damaging
Transcript: ENSMUST00000026427
AA Change: V693A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: V693A

DomainStartEndE-ValueType
low complexity region 26 44 N/A INTRINSIC
transmembrane domain 52 74 N/A INTRINSIC
Pfam:SMP_LBD 125 303 4.3e-80 PFAM
C2 320 422 1.27e-17 SMART
C2 469 563 4.62e-11 SMART
C2 635 737 4.05e-25 SMART
C2 786 879 3.05e-11 SMART
low complexity region 909 921 N/A INTRINSIC
C2 975 1080 1.51e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184514
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218092
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220045
Predicted Effect unknown
Transcript: ENSMUST00000220429
AA Change: V299A
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,263,311 (GRCm39) V264A possibly damaging Het
Akr1c6 G T 13: 4,486,414 (GRCm39) V74L probably benign Het
Atp10a T G 7: 58,478,469 (GRCm39) V1504G probably benign Het
Ccng1 A G 11: 40,641,690 (GRCm39) probably benign Het
Celsr3 A T 9: 108,718,454 (GRCm39) probably null Het
Coro1b T C 19: 4,199,470 (GRCm39) V43A possibly damaging Het
Dab1 A G 4: 104,336,418 (GRCm39) T5A probably benign Het
Dennd5a C T 7: 109,534,731 (GRCm39) A47T probably benign Het
Dgkb A G 12: 38,150,399 (GRCm39) T69A possibly damaging Het
Dhx37 G A 5: 125,496,379 (GRCm39) P721L probably damaging Het
Efr3b T C 12: 4,016,495 (GRCm39) N641D probably benign Het
Espnl A T 1: 91,272,572 (GRCm39) Q600L probably benign Het
Fscn2 A G 11: 120,258,176 (GRCm39) D366G possibly damaging Het
Gcsam C A 16: 45,440,366 (GRCm39) F136L probably benign Het
Gm10643 A T 8: 84,790,887 (GRCm39) probably benign Het
Habp2 A T 19: 56,299,624 (GRCm39) D174V probably benign Het
Hgfac T C 5: 35,201,207 (GRCm39) V210A probably benign Het
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
L3mbtl1 T C 2: 162,812,225 (GRCm39) W757R probably damaging Het
Lrrfip2 A G 9: 110,990,461 (GRCm39) probably null Het
Ly75 T C 2: 60,138,535 (GRCm39) D1444G probably damaging Het
Mars1 A G 10: 127,133,438 (GRCm39) V765A probably benign Het
Med1 A G 11: 98,047,086 (GRCm39) probably benign Het
Msln G A 17: 25,971,907 (GRCm39) probably benign Het
Nup188 T A 2: 30,197,645 (GRCm39) probably null Het
Or1p1c T G 11: 74,160,928 (GRCm39) F238V possibly damaging Het
Or7e173 A T 9: 19,939,007 (GRCm39) F76I probably benign Het
Otop2 T A 11: 115,220,393 (GRCm39) M411K probably benign Het
Picalm A G 7: 89,856,793 (GRCm39) I649M probably benign Het
Plekha8 T C 6: 54,606,851 (GRCm39) L382P probably damaging Het
Pspn A G 17: 57,306,853 (GRCm39) probably benign Het
Rnf215 A G 11: 4,089,793 (GRCm39) T269A probably damaging Het
Rps6kc1 A T 1: 190,566,258 (GRCm39) L329Q probably damaging Het
Srms T A 2: 180,854,290 (GRCm39) R92S possibly damaging Het
Ssxb10 C A X: 8,201,845 (GRCm39) S157* probably null Het
Tfap2c T C 2: 172,399,171 (GRCm39) S448P probably damaging Het
Thsd7b A G 1: 129,843,352 (GRCm39) N855D probably benign Het
Timeless A C 10: 128,085,629 (GRCm39) D887A possibly damaging Het
Tyms T C 5: 30,266,997 (GRCm39) Y169C probably damaging Het
Unc45b T A 11: 82,808,005 (GRCm39) C207S probably damaging Het
Utp20 A G 10: 88,611,147 (GRCm39) F1390S probably damaging Het
Vmn2r53 A T 7: 12,315,393 (GRCm39) probably benign Het
Zfp369 A T 13: 65,428,095 (GRCm39) D18V probably damaging Het
Other mutations in Esyt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Esyt1 APN 10 128,353,504 (GRCm39) missense possibly damaging 0.94
IGL00518:Esyt1 APN 10 128,357,743 (GRCm39) missense probably benign 0.00
IGL00534:Esyt1 APN 10 128,351,553 (GRCm39) critical splice donor site probably null
IGL00578:Esyt1 APN 10 128,347,612 (GRCm39) missense probably damaging 1.00
IGL00899:Esyt1 APN 10 128,352,932 (GRCm39) missense probably damaging 1.00
IGL01308:Esyt1 APN 10 128,355,660 (GRCm39) missense possibly damaging 0.62
IGL01373:Esyt1 APN 10 128,354,810 (GRCm39) missense possibly damaging 0.91
IGL01476:Esyt1 APN 10 128,347,363 (GRCm39) missense probably damaging 0.99
IGL01655:Esyt1 APN 10 128,358,181 (GRCm39) missense possibly damaging 0.72
IGL02302:Esyt1 APN 10 128,348,236 (GRCm39) missense probably damaging 1.00
IGL02441:Esyt1 APN 10 128,348,293 (GRCm39) missense possibly damaging 0.89
IGL02550:Esyt1 APN 10 128,357,962 (GRCm39) missense probably damaging 1.00
IGL02653:Esyt1 APN 10 128,346,877 (GRCm39) missense probably benign
IGL02948:Esyt1 APN 10 128,355,040 (GRCm39) missense probably damaging 0.96
IGL03033:Esyt1 APN 10 128,352,252 (GRCm39) missense probably benign 0.00
R0039:Esyt1 UTSW 10 128,356,831 (GRCm39) missense probably damaging 0.99
R0285:Esyt1 UTSW 10 128,348,087 (GRCm39) missense possibly damaging 0.50
R0453:Esyt1 UTSW 10 128,348,078 (GRCm39) missense probably benign 0.00
R1123:Esyt1 UTSW 10 128,352,427 (GRCm39) missense probably benign 0.35
R1496:Esyt1 UTSW 10 128,348,297 (GRCm39) missense possibly damaging 0.63
R1569:Esyt1 UTSW 10 128,354,863 (GRCm39) missense possibly damaging 0.88
R1691:Esyt1 UTSW 10 128,361,403 (GRCm39) missense probably benign 0.01
R1813:Esyt1 UTSW 10 128,355,487 (GRCm39) missense probably benign
R1827:Esyt1 UTSW 10 128,352,238 (GRCm39) missense probably benign 0.01
R2038:Esyt1 UTSW 10 128,347,820 (GRCm39) missense probably benign 0.00
R2039:Esyt1 UTSW 10 128,347,820 (GRCm39) missense probably benign 0.00
R2115:Esyt1 UTSW 10 128,357,973 (GRCm39) missense probably damaging 0.99
R2696:Esyt1 UTSW 10 128,352,914 (GRCm39) missense probably damaging 1.00
R3919:Esyt1 UTSW 10 128,356,905 (GRCm39) unclassified probably benign
R3980:Esyt1 UTSW 10 128,347,393 (GRCm39) missense probably damaging 0.99
R4223:Esyt1 UTSW 10 128,356,517 (GRCm39) missense probably damaging 1.00
R4225:Esyt1 UTSW 10 128,356,517 (GRCm39) missense probably damaging 1.00
R5249:Esyt1 UTSW 10 128,352,443 (GRCm39) missense probably benign 0.00
R5534:Esyt1 UTSW 10 128,355,329 (GRCm39) missense probably benign 0.07
R5704:Esyt1 UTSW 10 128,347,379 (GRCm39) missense probably damaging 1.00
R6252:Esyt1 UTSW 10 128,347,771 (GRCm39) missense probably benign 0.01
R6431:Esyt1 UTSW 10 128,352,543 (GRCm39) critical splice donor site probably null
R7013:Esyt1 UTSW 10 128,361,520 (GRCm39) missense probably damaging 1.00
R7102:Esyt1 UTSW 10 128,352,105 (GRCm39) missense probably damaging 0.98
R7152:Esyt1 UTSW 10 128,351,629 (GRCm39) missense possibly damaging 0.79
R7570:Esyt1 UTSW 10 128,354,801 (GRCm39) missense possibly damaging 0.52
R7700:Esyt1 UTSW 10 128,351,723 (GRCm39) splice site probably benign
R7732:Esyt1 UTSW 10 128,357,694 (GRCm39) critical splice donor site probably null
R8009:Esyt1 UTSW 10 128,347,354 (GRCm39) missense probably benign 0.01
R8049:Esyt1 UTSW 10 128,347,955 (GRCm39) missense probably benign
R8222:Esyt1 UTSW 10 128,347,647 (GRCm39) missense possibly damaging 0.77
R8365:Esyt1 UTSW 10 128,352,422 (GRCm39) missense possibly damaging 0.89
R8366:Esyt1 UTSW 10 128,352,422 (GRCm39) missense possibly damaging 0.89
R8407:Esyt1 UTSW 10 128,347,796 (GRCm39) missense probably damaging 1.00
R8962:Esyt1 UTSW 10 128,356,566 (GRCm39) missense possibly damaging 0.50
R9209:Esyt1 UTSW 10 128,361,356 (GRCm39) missense probably benign 0.00
R9305:Esyt1 UTSW 10 128,355,388 (GRCm39) missense possibly damaging 0.82
R9702:Esyt1 UTSW 10 128,356,607 (GRCm39) missense probably damaging 1.00
R9703:Esyt1 UTSW 10 128,354,796 (GRCm39) critical splice donor site probably null
Posted On 2016-08-02