Incidental Mutation 'IGL02364:Exoc3l'
ID290638
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc3l
Ensembl Gene ENSMUSG00000043251
Gene Nameexocyst complex component 3-like
SynonymsC730015A04Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.193) question?
Stock #IGL02364
Quality Score
Status
Chromosome8
Chromosomal Location105289924-105296101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 105290577 bp
ZygosityHeterozygous
Amino Acid Change Valine to Leucine at position 593 (V593L)
Ref Sequence ENSEMBL: ENSMUSP00000053766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014981] [ENSMUST00000057855] [ENSMUST00000171788] [ENSMUST00000212219] [ENSMUST00000212777] [ENSMUST00000212922]
Predicted Effect probably benign
Transcript: ENSMUST00000014981
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000057855
AA Change: V593L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: V593L

DomainStartEndE-ValueType
Pfam:Sec6 189 722 5.4e-116 PFAM
low complexity region 723 739 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171788
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212215
Predicted Effect probably benign
Transcript: ENSMUST00000212219
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212288
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212529
Predicted Effect probably benign
Transcript: ENSMUST00000212777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212974
Predicted Effect probably benign
Transcript: ENSMUST00000212922
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933425L06Rik T A 13: 105,082,300 D47E probably damaging Het
Bdp1 A T 13: 100,055,308 probably benign Het
Car8 T C 4: 8,183,321 I225V probably benign Het
Cc2d2a T A 5: 43,735,450 N1390K probably damaging Het
Coasy T C 11: 101,084,358 V247A possibly damaging Het
Dgkq A G 5: 108,656,444 V50A probably benign Het
Dixdc1 A T 9: 50,682,631 probably benign Het
Dmxl2 G A 9: 54,393,843 A2328V probably benign Het
Eya3 T C 4: 132,710,055 S409P probably damaging Het
Fam71a T C 1: 191,163,516 N310S probably benign Het
Gbp4 A T 5: 105,136,874 S50T probably damaging Het
Gm5885 A G 6: 133,530,129 noncoding transcript Het
Hypm G T X: 9,847,390 probably benign Het
Igkv12-89 A T 6: 68,834,986 Y66* probably null Het
Itgax G A 7: 128,139,982 V601M possibly damaging Het
Kank3 T C 17: 33,818,850 V291A probably benign Het
Klhl9 A G 4: 88,721,170 M278T probably damaging Het
Lrrc43 G A 5: 123,501,212 D435N possibly damaging Het
Ly75 A T 2: 60,358,507 S292T probably damaging Het
Mchr1 G A 15: 81,237,279 V77I probably benign Het
Mga T A 2: 119,964,054 C2622S possibly damaging Het
Neb G T 2: 52,296,254 Y935* probably null Het
Phf20 A G 2: 156,294,097 E612G possibly damaging Het
Pkhd1 A G 1: 20,200,783 L3182P probably benign Het
Rnf130 T C 11: 50,095,840 V337A probably benign Het
Slfn10-ps T C 11: 83,032,291 noncoding transcript Het
Sorcs1 G A 19: 50,333,598 P249L probably damaging Het
Spata13 C T 14: 60,691,274 R94C probably damaging Het
Stk38 C T 17: 28,991,416 R63Q probably benign Het
Tmem220 C A 11: 67,034,188 H174N probably benign Het
Tmem68 C A 4: 3,560,536 R216L probably damaging Het
Trim29 G A 9: 43,311,302 V143M probably benign Het
Ubqln2 T C X: 153,499,910 L486P possibly damaging Het
Usp17le G A 7: 104,768,775 Q387* probably null Het
Vps33b A G 7: 80,287,839 E445G probably damaging Het
Other mutations in Exoc3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Exoc3l APN 8 105290498 missense probably benign 0.25
IGL01731:Exoc3l APN 8 105292955 missense probably benign 0.16
IGL02413:Exoc3l APN 8 105292438 missense probably damaging 1.00
IGL02512:Exoc3l APN 8 105290483 missense probably damaging 1.00
IGL02810:Exoc3l APN 8 105295348 missense probably damaging 1.00
R0045:Exoc3l UTSW 8 105293685 missense probably damaging 1.00
R0045:Exoc3l UTSW 8 105293685 missense probably damaging 1.00
R0183:Exoc3l UTSW 8 105295300 missense probably damaging 1.00
R0302:Exoc3l UTSW 8 105293543 missense probably benign 0.01
R1660:Exoc3l UTSW 8 105293060 critical splice donor site probably null
R1699:Exoc3l UTSW 8 105295013 missense probably benign 0.34
R1826:Exoc3l UTSW 8 105293618 missense probably damaging 0.97
R2275:Exoc3l UTSW 8 105290447 critical splice donor site probably null
R3928:Exoc3l UTSW 8 105290917 unclassified probably benign
R3938:Exoc3l UTSW 8 105293405 missense probably damaging 1.00
R4261:Exoc3l UTSW 8 105290967 missense probably damaging 0.98
R4273:Exoc3l UTSW 8 105289961 makesense probably null
R5518:Exoc3l UTSW 8 105293163 missense probably benign 0.27
R6471:Exoc3l UTSW 8 105290534 missense probably damaging 1.00
R6511:Exoc3l UTSW 8 105293255 missense probably benign 0.00
R6631:Exoc3l UTSW 8 105295361 missense probably damaging 1.00
R6694:Exoc3l UTSW 8 105290490 missense probably benign 0.15
R6843:Exoc3l UTSW 8 105290097 missense probably benign 0.00
R7310:Exoc3l UTSW 8 105293708 missense probably damaging 1.00
R7387:Exoc3l UTSW 8 105294973 missense probably damaging 1.00
R7442:Exoc3l UTSW 8 105292926 missense probably damaging 1.00
R7764:Exoc3l UTSW 8 105290701 missense possibly damaging 0.62
R7845:Exoc3l UTSW 8 105290150 missense probably damaging 1.00
Z1176:Exoc3l UTSW 8 105290794 missense possibly damaging 0.74
Posted On2015-04-16