Incidental Mutation 'IGL00949:Exoc3l'
ID28039
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: 0.212) question?
Stock #IGL00949
Quality Score
Status
Chromosome8
Chromosomal Location105289924-105296101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 105290498 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 619 (E619G)
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 probably benign
Transcript: ENSMUST00000057855
AA Change: E619G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: E619G

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl4 A G X: 142,343,329 C303R probably damaging Het
Als2 C T 1: 59,215,572 G209S probably damaging Het
Ankrd11 T C 8: 122,908,728 T56A possibly damaging Het
Arnt T A 3: 95,487,268 I381N probably damaging Het
Atp13a1 T C 8: 69,800,003 probably benign Het
Cd180 A T 13: 102,693,760 T21S possibly damaging Het
Cdc27 T C 11: 104,529,403 Y138C probably damaging Het
Dhx16 A G 17: 35,887,934 T753A probably benign Het
Dnah1 A G 14: 31,307,090 M561T probably benign Het
Dsc3 C A 18: 19,985,631 G259C probably null Het
Enox2 A T X: 49,040,607 D346E probably benign Het
Exosc9 T C 3: 36,563,266 probably benign Het
Gmpr2 C T 14: 55,676,750 probably benign Het
Golga1 T C 2: 39,041,255 E289G probably damaging Het
Hist1h3a G A 13: 23,762,031 T108I probably damaging Het
Jmy A G 13: 93,454,002 V531A probably damaging Het
Lamp2 T C X: 38,435,473 N156S probably benign Het
Lrrn1 C A 6: 107,569,300 N686K probably benign Het
Lyst T C 13: 13,635,485 V580A possibly damaging Het
Ms4a8a C A 19: 11,079,444 L91F probably benign Het
Naip2 A G 13: 100,161,591 F646L probably damaging Het
Npat T C 9: 53,563,362 V818A probably benign Het
Olfr1362 A T 13: 21,611,351 I206N probably damaging Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Pid1 A G 1: 84,038,506 V46A probably damaging Het
Pld5 A T 1: 175,975,473 C409S probably damaging Het
Plet1 A G 9: 50,499,223 T105A possibly damaging Het
Polrmt T C 10: 79,737,597 probably null Het
Pp2d1 T C 17: 53,515,639 N133S probably benign Het
Prpf40b G T 15: 99,306,538 V228L probably benign Het
Ptgfrn A T 3: 101,072,845 M393K probably benign Het
Slc9a1 C T 4: 133,416,451 T416I probably benign Het
Slc9c1 T C 16: 45,593,358 S950P probably benign Het
Slitrk1 A T 14: 108,911,809 V490D probably damaging Het
Th T C 7: 142,897,026 Y131C probably benign Het
Tlr6 A G 5: 64,953,512 L684P probably damaging Het
Tpm3 A G 3: 90,089,858 E234G probably damaging Het
Tti1 A G 2: 157,982,399 Y1045H probably benign Het
Txnl4b T A 8: 109,569,075 V37D probably benign Het
Ufl1 A T 4: 25,275,822 F194I probably damaging Het
Usp13 G A 3: 32,886,577 E412K possibly damaging Het
Usp46 A T 5: 74,003,242 L251Q possibly damaging Het
Other mutations in Exoc3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01731:Exoc3l APN 8 105292955 missense probably benign 0.16
IGL02364:Exoc3l APN 8 105290577 missense possibly damaging 0.71
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 On2013-04-17