Incidental Mutation 'IGL03132:Exoc6b'
ID410378
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: 0.697) question?
Stock #IGL03132
Quality Score
Status
Chromosome6
Chromosomal Location84618487-85069513 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84791264 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 699 (N699S)
Ref Sequence ENSEMBL: ENSMUSP00000125312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160197]
Predicted Effect possibly damaging
Transcript: ENSMUST00000160197
AA Change: N699S

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: N699S

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
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 G A 6: 88,838,959 R177C probably benign Het
Adam21 C A 12: 81,560,374 G205* probably null Het
Baz2b T A 2: 59,907,753 probably benign Het
Col6a3 C T 1: 90,803,893 G939D probably damaging Het
Csf1r A G 18: 61,128,099 E749G probably benign Het
Dnm3 C T 1: 162,011,105 probably null Het
Dsg3 A G 18: 20,524,596 D241G probably damaging Het
Dst T C 1: 34,256,641 S6015P probably benign Het
Dvl2 T C 11: 70,005,688 S183P probably benign Het
Fat2 T C 11: 55,253,920 R4043G probably benign Het
Gbp9 T A 5: 105,084,953 T278S possibly damaging Het
Gm2a T A 11: 55,103,648 I48N probably damaging Het
Gorasp2 T C 2: 70,684,035 V232A probably benign Het
Gpa33 G A 1: 166,152,649 D94N probably benign Het
Il1rap A T 16: 26,680,119 S123C probably damaging Het
Kctd17 T C 15: 78,435,687 S102P probably damaging Het
Lamb1 A G 12: 31,300,334 probably null Het
Mfsd1 T A 3: 67,587,940 I131K possibly damaging Het
Pkhd1l1 G A 15: 44,574,617 C3576Y probably damaging Het
Pla2g4a A T 1: 149,902,284 probably benign Het
Ptpn11 T A 5: 121,134,815 D575V possibly damaging Het
Reck A T 4: 43,938,898 R755* probably null Het
Scgb2b21 A G 7: 33,519,874 V35A possibly damaging Het
Srpr G A 9: 35,214,278 probably null Het
Stk11ip T C 1: 75,536,089 S1025P probably benign Het
Tmprss9 G A 10: 80,894,865 V742M probably damaging Het
Trh T C 6: 92,243,774 T36A probably benign Het
Trim35 A G 14: 66,309,146 E454G probably damaging Het
Vmn2r99 C T 17: 19,378,223 Q170* probably null Het
Other mutations in Exoc6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Exoc6b APN 6 84989453 missense probably benign 0.08
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
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
Posted On2016-08-02