Incidental Mutation 'IGL02810:Exoc3l'
ID360533
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 #IGL02810
Quality Score
Status
Chromosome8
Chromosomal Location105289924-105296101 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 105295348 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 41 (I41N)
Ref Sequence ENSEMBL: ENSMUSP00000053766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000057855] [ENSMUST00000212777]
Predicted Effect probably benign
Transcript: ENSMUST00000015003
SMART Domains Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
E2F_TDP 17 83 3.56e-31 SMART
Pfam:E2F_CC-MB 100 196 2.8e-36 PFAM
low complexity region 201 252 N/A INTRINSIC
low complexity region 360 372 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000057855
AA Change: I41N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: I41N

DomainStartEndE-ValueType
Pfam:Sec6 189 722 5.4e-116 PFAM
low complexity region 723 739 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212215
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 probably benign
Transcript: ENSMUST00000212777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212974
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,101,535 K1491E probably damaging Het
Abi3bp T C 16: 56,677,775 S696P probably damaging Het
Ago1 A G 4: 126,443,093 V273A probably benign Het
Bbs2 A G 8: 94,086,911 Y213H probably benign Het
Car10 T A 11: 93,578,696 Y142N probably damaging Het
Ccdc130 A G 8: 84,264,368 probably benign Het
Eml6 T C 11: 29,849,016 K415E possibly damaging Het
Fam214b C A 4: 43,034,429 V389F probably damaging Het
Fat3 T C 9: 16,376,850 D459G probably damaging Het
Gabbr1 T C 17: 37,062,762 F401L probably damaging Het
Galnt10 G A 11: 57,725,586 R109Q probably damaging Het
Gpr108 C T 17: 57,242,742 D265N probably benign Het
Helb T C 10: 120,091,703 N834S possibly damaging Het
Igkv8-30 A G 6: 70,117,358 V23A probably benign Het
Iqck A T 7: 118,971,439 K271N possibly damaging Het
Klhl17 T C 4: 156,234,057 E36G possibly damaging Het
Klrb1b A G 6: 128,818,467 probably null Het
Mybl1 T C 1: 9,678,388 T328A probably benign Het
Mybl1 G A 1: 9,673,115 P571S probably damaging Het
Nav3 A T 10: 109,816,274 D873E probably damaging Het
Nms T C 1: 38,948,644 Y147H possibly damaging Het
Nrde2 A T 12: 100,143,758 M338K possibly damaging Het
Oasl2 T A 5: 114,897,791 F43I probably damaging Het
Oxr1 G A 15: 41,813,583 V91I probably benign Het
Pcnx2 C T 8: 125,887,203 C503Y probably benign Het
Polr2m A T 9: 71,483,566 I14K probably benign Het
Ppara T C 15: 85,777,677 S40P probably damaging Het
Shisa6 T A 11: 66,224,948 T288S possibly damaging Het
Slc26a5 T C 5: 21,813,383 probably benign Het
Spag1 A G 15: 36,234,547 N818D probably damaging Het
Srcap T C 7: 127,521,663 probably null Het
Tctn1 C T 5: 122,242,601 probably null Het
Triobp A G 15: 79,002,203 N507S possibly damaging Het
Ugt2b34 C A 5: 86,906,524 V133L probably benign Het
Zcchc6 A G 13: 59,782,016 probably null 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
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
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 On2015-12-18