Incidental Mutation 'IGL00519:Exoc6b'
ID5416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc6b
Ensembl Gene ENSMUSG00000033769
Gene Nameexocyst complex component 6B
SynonymsSec15b, Sec15l2, 4930569O18Rik, G430127E12Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.663) question?
Stock #IGL00519
Quality Score
Status
Chromosome6
Chromosomal Location84618487-85069513 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84989453 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 180 (K180E)
Ref Sequence ENSEMBL: ENSMUSP00000125312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160197] [ENSMUST00000162821]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000046334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051531
Predicted Effect probably benign
Transcript: ENSMUST00000160197
AA Change: K180E

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: K180E

DomainStartEndE-ValueType
coiled coil region 79 118 N/A INTRINSIC
low complexity region 272 282 N/A INTRINSIC
Pfam:Sec15 464 770 4.5e-105 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160783
SMART Domains Protein: ENSMUSP00000125087
Gene: ENSMUSG00000033769

DomainStartEndE-ValueType
coiled coil region 79 118 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161443
Predicted Effect probably benign
Transcript: ENSMUST00000162821
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A T 8: 43,569,525 N309K probably damaging Het
Asap1 G A 15: 64,110,942 P846S probably damaging Het
Atg10 A G 13: 91,154,211 probably benign Het
Cdk18 C A 1: 132,115,488 R433L probably benign Het
Celsr1 A G 15: 86,030,836 Y979H probably damaging Het
Cracr2b T C 7: 141,465,757 probably benign Het
Csmd2 T C 4: 128,483,473 F2049L probably benign Het
Cubn T C 2: 13,282,919 N3450D probably benign Het
Dmrt1 T C 19: 25,603,274 L350P probably damaging Het
Dnah5 A T 15: 28,444,218 D4054V probably benign Het
Dpp8 A T 9: 65,078,008 T783S probably damaging Het
Enpp3 T C 10: 24,787,772 T564A probably benign Het
Faf1 T A 4: 109,840,381 F301L probably benign Het
Fbxo7 A T 10: 86,029,064 E77V probably damaging Het
Gabpa T G 16: 84,860,601 *455G probably null Het
Hexim2 A T 11: 103,134,079 M1L probably benign Het
Lrrc24 T A 15: 76,718,063 N164I probably damaging Het
Lrrc8b G A 5: 105,481,725 A646T possibly damaging Het
Mansc1 T A 6: 134,610,806 Q136L possibly damaging Het
Mlxip T A 5: 123,447,205 V592E probably benign Het
Ncor2 T C 5: 125,084,924 T429A unknown Het
Tbcd A G 11: 121,575,321 N591S probably damaging Het
Tenm4 T C 7: 96,805,138 probably benign Het
Uri1 A G 7: 37,961,553 S522P probably damaging Het
Ush2a C T 1: 188,444,668 S1343L probably benign Het
Other mutations in Exoc6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01148:Exoc6b APN 6 84908226 missense probably benign 0.18
IGL01804:Exoc6b APN 6 84908166 missense probably damaging 0.98
IGL01817:Exoc6b APN 6 85069338 missense probably damaging 1.00
IGL01912:Exoc6b APN 6 84625174 missense probably damaging 1.00
IGL02441:Exoc6b APN 6 85005008 missense probably damaging 1.00
IGL02947:Exoc6b APN 6 84858429 missense probably benign
IGL02996:Exoc6b APN 6 84908213 missense probably benign 0.01
IGL03132:Exoc6b APN 6 84791264 missense possibly damaging 0.46
IGL03338:Exoc6b APN 6 84844130 missense probably damaging 0.99
R0003:Exoc6b UTSW 6 84854699 critical splice donor site probably null
R0732:Exoc6b UTSW 6 84855522 missense probably damaging 0.99
R1137:Exoc6b UTSW 6 84908223 missense probably benign
R1381:Exoc6b UTSW 6 84835117 missense probably benign
R1723:Exoc6b UTSW 6 85069344 missense probably damaging 1.00
R1838:Exoc6b UTSW 6 84853678 missense probably benign 0.04
R1866:Exoc6b UTSW 6 84851914 missense probably damaging 0.99
R2122:Exoc6b UTSW 6 84621482 missense probably benign 0.01
R2138:Exoc6b UTSW 6 84989482 missense probably damaging 1.00
R2357:Exoc6b UTSW 6 84989339 missense possibly damaging 0.60
R2987:Exoc6b UTSW 6 84851947 missense probably damaging 0.96
R2988:Exoc6b UTSW 6 84851947 missense probably damaging 0.96
R3415:Exoc6b UTSW 6 84890565 missense possibly damaging 0.81
R3417:Exoc6b UTSW 6 84890565 missense possibly damaging 0.81
R4364:Exoc6b UTSW 6 85003179 intron probably benign
R4610:Exoc6b UTSW 6 85003159 intron probably benign
R4624:Exoc6b UTSW 6 84854809 splice site probably benign
R4845:Exoc6b UTSW 6 84835137 missense probably benign 0.04
R5366:Exoc6b UTSW 6 84890531 missense probably benign
R5603:Exoc6b UTSW 6 84835144 missense possibly damaging 0.96
R5635:Exoc6b UTSW 6 84851927 missense probably damaging 0.99
R5728:Exoc6b UTSW 6 84860191 missense probably damaging 1.00
R6188:Exoc6b UTSW 6 84855497 missense probably damaging 0.99
R7030:Exoc6b UTSW 6 84848825 missense probably damaging 0.99
R7058:Exoc6b UTSW 6 84854722 missense probably damaging 1.00
R7259:Exoc6b UTSW 6 84848810 missense probably benign 0.40
R7574:Exoc6b UTSW 6 84791384 critical splice acceptor site probably null
R7607:Exoc6b UTSW 6 84989409 missense possibly damaging 0.67
R7918:Exoc6b UTSW 6 85069350 missense probably damaging 0.96
R8146:Exoc6b UTSW 6 84908194 missense probably benign 0.00
R8204:Exoc6b UTSW 6 84855522 missense probably damaging 1.00
R8356:Exoc6b UTSW 6 84844095 frame shift probably null
R8456:Exoc6b UTSW 6 84844095 frame shift probably null
Posted On2012-04-20