Incidental Mutation 'R8049:Esyt1'
ID 618944
Institutional Source Beutler Lab
Gene Symbol Esyt1
Ensembl Gene ENSMUSG00000025366
Gene Name extended synaptotagmin-like protein 1
Synonyms Mbc2, Fam62a, vp115
MMRRC Submission 067486-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.158) question?
Stock # R8049 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 128346117-128361728 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 128347955 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 942 (V942L)
Ref Sequence ENSEMBL: ENSMUSP00000026427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026427]
AlphaFold Q3U7R1
Predicted Effect probably benign
Transcript: ENSMUST00000026427
AA Change: V942L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026427
Gene: ENSMUSG00000025366
AA Change: V942L

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 probably benign
Transcript: ENSMUST00000220429
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A T 16: 88,555,992 (GRCm39) T69S probably benign Het
5730455P16Rik A G 11: 80,268,798 (GRCm39) S4P possibly damaging Het
Abca13 T A 11: 9,241,867 (GRCm39) N1243K probably damaging Het
Adgrg6 A T 10: 14,303,943 (GRCm39) S824T probably benign Het
Armh4 G T 14: 50,010,993 (GRCm39) A238E probably damaging Het
C3ar1 T A 6: 122,827,059 (GRCm39) Y386F probably damaging Het
Cdc14a T C 3: 116,087,577 (GRCm39) N527S probably benign Het
Cfap69 A T 5: 5,669,085 (GRCm39) probably benign Het
Col7a1 C T 9: 108,804,631 (GRCm39) P2279S unknown Het
Crb2 G A 2: 37,683,252 (GRCm39) G918D probably benign Het
Dcn C A 10: 97,349,479 (GRCm39) N250K probably damaging Het
Dctn5 G A 7: 121,732,466 (GRCm39) probably benign Het
Ddx55 T C 5: 124,694,821 (GRCm39) V83A probably damaging Het
Dnaja2 T A 8: 86,265,876 (GRCm39) H403L possibly damaging Het
Dpy19l4 T C 4: 11,303,982 (GRCm39) I143V probably benign Het
Efna5 G T 17: 62,957,977 (GRCm39) T93K probably benign Het
Eml6 A G 11: 29,843,201 (GRCm39) V171A possibly damaging Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam78a C A 2: 31,973,035 (GRCm39) probably benign Het
Fat2 A G 11: 55,202,892 (GRCm39) Y61H probably benign Het
Fbxw14 A T 9: 109,105,211 (GRCm39) M318K probably damaging Het
Gm14295 A G 2: 176,500,871 (GRCm39) I120M probably benign Het
Gm14403 T A 2: 177,200,311 (GRCm39) Y86N probably benign Het
Gmcl1 G T 6: 86,698,408 (GRCm39) A163E probably damaging Het
Gpr137b T C 13: 13,533,991 (GRCm39) Y355C Het
Gpr55 T C 1: 85,869,419 (GRCm39) D54G probably benign Het
Gtf2b T G 3: 142,483,975 (GRCm39) S50A probably damaging Het
Ifit3 A T 19: 34,565,480 (GRCm39) E342V possibly damaging Het
Iqgap3 T A 3: 88,011,609 (GRCm39) I798N probably damaging Het
Kplce A T 3: 92,776,202 (GRCm39) Y160* probably null Het
Lpin1 T C 12: 16,613,685 (GRCm39) D494G Het
Lsm12 T C 11: 102,056,235 (GRCm39) E149G possibly damaging Het
Mtfr2 T C 10: 20,228,603 (GRCm39) S50P possibly damaging Het
Ndnf T C 6: 65,680,414 (GRCm39) M231T probably benign Het
Noc3l A T 19: 38,800,873 (GRCm39) V203E probably benign Het
Or1e27-ps1 G T 11: 73,555,988 (GRCm39) K184N possibly damaging Het
Or52h2 C A 7: 103,839,017 (GRCm39) L132F probably damaging Het
Or5c1 A T 2: 37,222,346 (GRCm39) T196S probably damaging Het
Or9r7 A T 10: 129,962,469 (GRCm39) Y152* probably null Het
Pcnx1 C T 12: 81,965,593 (GRCm39) R59* probably null Het
Pde6b C T 5: 108,573,118 (GRCm39) P496L probably benign Het
Plppr1 A T 4: 49,300,942 (GRCm39) M92L probably benign Het
Pphln1-ps1 C T 16: 13,495,623 (GRCm39) R241C probably damaging Het
Ptprk C G 10: 28,259,565 (GRCm39) S335C possibly damaging Het
Rars2 T A 4: 34,650,217 (GRCm39) M334K probably benign Het
Rasl10a A T 11: 5,009,823 (GRCm39) I124F probably damaging Het
Rgs12 T A 5: 35,183,374 (GRCm39) V1007E possibly damaging Het
Rnf122 T A 8: 31,618,608 (GRCm39) C119S probably damaging Het
Scn11a T A 9: 119,584,149 (GRCm39) I1489F probably damaging Het
Setd6 C A 8: 96,443,316 (GRCm39) S186R probably benign Het
Tex19.1 A G 11: 121,038,148 (GRCm39) T169A probably benign Het
Th G A 7: 142,447,860 (GRCm39) P408S probably damaging Het
Trappc13 T C 13: 104,281,052 (GRCm39) M337V probably benign Het
Treml2 A T 17: 48,609,762 (GRCm39) K65* probably null Het
Ubxn4 T C 1: 128,183,933 (GRCm39) S98P probably damaging Het
Wrnip1 A G 13: 33,005,960 (GRCm39) S601G probably benign Het
Zfp1006 A T 8: 129,946,555 (GRCm39) L90H 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
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
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
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'- CACACTGTCAGCTTCACCTG -3'
(R):5'- TTTGCACTCAGTGGTCAGG -3'

Sequencing Primer
(F):5'- TCAGCTTCACCTGGCCCAG -3'
(R):5'- CAGGAAGGCTTAGGCTCCAG -3'
Posted On 2020-01-23