Incidental Mutation 'R6252:Esyt1'
ID 506289
Institutional Source Beutler Lab
Gene Symbol Esyt1
Ensembl Gene ENSMUSG00000025366
Gene Name extended synaptotagmin-like protein 1
Synonyms Mbc2, Fam62a, vp115
MMRRC Submission 044369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R6252 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 128346117-128361728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 128347771 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 973 (E973G)
Ref Sequence ENSEMBL: ENSMUSP00000026427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026427]
AlphaFold Q3U7R1
Predicted Effect probably benign
Transcript: ENSMUST00000026427
AA Change: E973G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: E973G

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 probably benign
Transcript: ENSMUST00000220429
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,122,305 (GRCm39) I393V probably benign Het
Agl C T 3: 116,580,878 (GRCm39) probably null Het
Ankrd11 T C 8: 123,620,561 (GRCm39) E1097G possibly damaging Het
Aoc1 A G 6: 48,883,015 (GRCm39) H297R probably benign Het
AW146154 G A 7: 41,130,811 (GRCm39) P102S probably benign Het
Cap1 A G 4: 122,766,193 (GRCm39) V15A probably benign Het
Cavin2 A G 1: 51,328,828 (GRCm39) N95S probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Col8a1 A G 16: 57,447,368 (GRCm39) V714A unknown Het
Crispld1 A G 1: 17,819,731 (GRCm39) E243G probably benign Het
Daam1 G A 12: 72,035,723 (GRCm39) G964R probably damaging Het
Elapor2 T C 5: 9,460,693 (GRCm39) Y205H probably damaging Het
Epg5 T C 18: 78,028,382 (GRCm39) F1308L probably damaging Het
Eqtn A T 4: 94,796,006 (GRCm39) S232T probably damaging Het
Fbxl13 T A 5: 21,826,499 (GRCm39) M96L possibly damaging Het
Frem2 A T 3: 53,479,869 (GRCm39) F1941L probably damaging Het
Gbf1 T C 19: 46,259,995 (GRCm39) V1050A probably benign Het
Hecw1 T C 13: 14,446,664 (GRCm39) H721R probably damaging Het
Idh1 T G 1: 65,207,690 (GRCm39) Q163P probably benign Het
Kctd15 A G 7: 34,341,348 (GRCm39) V193A probably benign Het
Npas3 A G 12: 54,115,673 (GRCm39) Y834C probably damaging Het
Opn4 C T 14: 34,316,788 (GRCm39) V334I probably benign Het
Or10w3 A T 19: 13,704,419 (GRCm39) S265C probably damaging Het
Pappa A G 4: 65,107,649 (GRCm39) M687V probably benign Het
Pcdhgc5 T C 18: 37,954,583 (GRCm39) F619S probably damaging Het
Pdlim2 G T 14: 70,405,137 (GRCm39) Q243K probably damaging Het
Pkd1 T C 17: 24,800,200 (GRCm39) L2987P probably damaging Het
Plcz1 A G 6: 139,953,329 (GRCm39) probably null Het
Prpf6 C T 2: 181,289,156 (GRCm39) A615V probably damaging Het
Pwp1 T C 10: 85,710,373 (GRCm39) V5A probably benign Het
Rsph10b T A 5: 143,873,939 (GRCm39) D13E possibly damaging Het
Slc44a3 T A 3: 121,307,386 (GRCm39) D200V probably damaging Het
Spata31h1 T C 10: 82,119,588 (GRCm39) Q4474R probably benign Het
St7l T C 3: 104,826,819 (GRCm39) probably null Het
Stc2 T A 11: 31,310,346 (GRCm39) D230V probably damaging Het
Syne2 C A 12: 76,016,210 (GRCm39) T3264K probably benign Het
Trp73 C A 4: 154,148,854 (GRCm39) D252Y probably damaging Het
Ubr1 T C 2: 120,737,376 (GRCm39) D1056G probably benign Het
Vcan C T 13: 89,839,339 (GRCm39) W1108* probably null Het
Zfp772 G T 7: 7,207,018 (GRCm39) S224R possibly damaging Het
Zfp804b A T 5: 6,819,478 (GRCm39) V1159E probably damaging Het
Zfp981 T G 4: 146,621,970 (GRCm39) S298R probably benign Het
Zmat3 A G 3: 32,395,770 (GRCm39) F246L possibly damaging Het
Zranb1 A G 7: 132,585,633 (GRCm39) T720A probably benign 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
IGL02986:Esyt1 APN 10 128,352,626 (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
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
Predicted Primers PCR Primer
(F):5'- GCAACACTGACACATAGGGGTC -3'
(R):5'- AATGACGAACCTGAGGCCTTAG -3'

Sequencing Primer
(F):5'- CTGGGAGATCACGTCCATTTTGTC -3'
(R):5'- TCCTAGAGGTCAGGCATCG -3'
Posted On 2018-03-15