Incidental Mutation 'R8204:Exoc6b'
ID 635808
Institutional Source Beutler Lab
Gene Symbol Exoc6b
Ensembl Gene ENSMUSG00000033769
Gene Name exocyst complex component 6B
Synonyms Sec15b, Sec15l2, 4930569O18Rik, G430127E12Rik
MMRRC Submission 067627-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R8204 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 84595469-85046495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 84832504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 397 (V397M)
Ref Sequence ENSEMBL: ENSMUSP00000125312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160197] [ENSMUST00000162821]
AlphaFold A6H5Z3
Predicted Effect probably damaging
Transcript: ENSMUST00000160197
AA Change: V397M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: V397M

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 probably benign
Transcript: ENSMUST00000162821
Meta Mutation Damage Score 0.2676 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 98% (51/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik C T 11: 72,057,606 (GRCm39) R731H probably benign Het
Arpp21 T A 9: 111,965,638 (GRCm39) Y408F noncoding transcript Het
Atr T C 9: 95,817,566 (GRCm39) S2086P Het
BC034090 C A 1: 155,117,488 (GRCm39) G210V probably damaging Het
Cdk6 A G 5: 3,394,461 (GRCm39) D32G probably damaging Het
Cep126 C T 9: 8,120,781 (GRCm39) E81K probably damaging Het
Cep20 T C 16: 14,118,070 (GRCm39) D150G probably benign Het
Clec4d T A 6: 123,242,323 (GRCm39) V25D probably damaging Het
Cox8a A G 19: 7,192,845 (GRCm39) I40T probably benign Het
Dlg5 A G 14: 24,210,320 (GRCm39) L792P probably damaging Het
Egln3 T C 12: 54,250,010 (GRCm39) Y113C probably benign Het
Fat2 A T 11: 55,175,436 (GRCm39) L1759Q probably benign Het
Flg2 T A 3: 93,110,074 (GRCm39) S701T unknown Het
Flvcr2 GTAGTGTATA GTA 12: 85,849,922 (GRCm39) probably null Het
Git1 G A 11: 77,396,161 (GRCm39) D551N probably benign Het
Gpr137 C T 19: 6,917,746 (GRCm39) A21T probably benign Het
Grk3 A G 5: 113,105,225 (GRCm39) F171L probably benign Het
Hk1 A G 10: 62,132,523 (GRCm39) F175S probably damaging Het
Hoxc13 A G 15: 102,835,795 (GRCm39) N308D probably damaging Het
Itga9 A G 9: 118,700,989 (GRCm39) N924S probably damaging Het
Katnip C T 7: 125,449,914 (GRCm39) R993C probably damaging Het
Klhl20 T C 1: 160,934,414 (GRCm39) M202V probably benign Het
Krtap19-9a C T 16: 88,720,996 (GRCm39) G37D noncoding transcript Het
Lancl2 C A 6: 57,714,701 (GRCm39) P440Q probably damaging Het
Lrba T C 3: 86,222,710 (GRCm39) I608T possibly damaging Het
Lrtm2 T A 6: 119,294,369 (GRCm39) E254V probably benign Het
Magi3 A T 3: 103,958,502 (GRCm39) C528S probably benign Het
Mast3 T C 8: 71,240,925 (GRCm39) D224G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Myrip G A 9: 120,262,045 (GRCm39) probably null Het
Or4f54 A G 2: 111,123,485 (GRCm39) R291G probably damaging Het
Or5af2 A C 11: 58,707,885 (GRCm39) D17A probably benign Het
Plekhg6 C T 6: 125,340,461 (GRCm39) R633H probably damaging Het
Ppp1r7 T C 1: 93,292,733 (GRCm39) V344A possibly damaging Het
Ppp2r1a A G 17: 21,177,035 (GRCm39) E191G probably benign Het
Prkag2 T C 5: 25,074,125 (GRCm39) probably null Het
Pyroxd2 A T 19: 42,737,827 (GRCm39) V48E probably benign Het
Sacs T C 14: 61,450,397 (GRCm39) S4148P probably damaging Het
Sh3tc2 T C 18: 62,086,200 (GRCm39) F5S probably damaging Het
Skint8 T C 4: 111,796,090 (GRCm39) S255P probably benign Het
Tacc2 A T 7: 130,226,159 (GRCm39) Q948L probably damaging Het
Tcerg1 T A 18: 42,707,618 (GRCm39) L1046Q probably damaging Het
Tcof1 G C 18: 60,962,123 (GRCm39) A702G possibly damaging Het
Tfcp2 G T 15: 100,420,329 (GRCm39) Q169K possibly damaging Het
Tpp1 A T 7: 105,399,522 (GRCm39) L82Q probably damaging Het
Trpc7 A G 13: 56,931,609 (GRCm39) S697P probably benign Het
Vmn1r55 A T 7: 5,150,285 (GRCm39) I46N possibly damaging Het
Wdfy3 A G 5: 102,000,451 (GRCm39) V2973A probably benign Het
Xrcc1 T C 7: 24,271,709 (GRCm39) V564A possibly damaging Het
Other mutations in Exoc6b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Exoc6b APN 6 84,966,435 (GRCm39) missense probably benign 0.08
IGL01148:Exoc6b APN 6 84,885,208 (GRCm39) missense probably benign 0.18
IGL01804:Exoc6b APN 6 84,885,148 (GRCm39) missense probably damaging 0.98
IGL01817:Exoc6b APN 6 85,046,320 (GRCm39) missense probably damaging 1.00
IGL01912:Exoc6b APN 6 84,602,156 (GRCm39) missense probably damaging 1.00
IGL02441:Exoc6b APN 6 84,981,990 (GRCm39) missense probably damaging 1.00
IGL02947:Exoc6b APN 6 84,835,411 (GRCm39) missense probably benign
IGL02996:Exoc6b APN 6 84,885,195 (GRCm39) missense probably benign 0.01
IGL03132:Exoc6b APN 6 84,768,246 (GRCm39) missense possibly damaging 0.46
IGL03338:Exoc6b APN 6 84,821,112 (GRCm39) missense probably damaging 0.99
R0003:Exoc6b UTSW 6 84,831,681 (GRCm39) critical splice donor site probably null
R0732:Exoc6b UTSW 6 84,832,504 (GRCm39) missense probably damaging 0.99
R1137:Exoc6b UTSW 6 84,885,205 (GRCm39) missense probably benign
R1381:Exoc6b UTSW 6 84,812,099 (GRCm39) missense probably benign
R1723:Exoc6b UTSW 6 85,046,326 (GRCm39) missense probably damaging 1.00
R1838:Exoc6b UTSW 6 84,830,660 (GRCm39) missense probably benign 0.04
R1866:Exoc6b UTSW 6 84,828,896 (GRCm39) missense probably damaging 0.99
R2122:Exoc6b UTSW 6 84,598,464 (GRCm39) missense probably benign 0.01
R2138:Exoc6b UTSW 6 84,966,464 (GRCm39) missense probably damaging 1.00
R2357:Exoc6b UTSW 6 84,966,321 (GRCm39) missense possibly damaging 0.60
R2987:Exoc6b UTSW 6 84,828,929 (GRCm39) missense probably damaging 0.96
R2988:Exoc6b UTSW 6 84,828,929 (GRCm39) missense probably damaging 0.96
R3415:Exoc6b UTSW 6 84,867,547 (GRCm39) missense possibly damaging 0.81
R3417:Exoc6b UTSW 6 84,867,547 (GRCm39) missense possibly damaging 0.81
R4364:Exoc6b UTSW 6 84,980,161 (GRCm39) intron probably benign
R4610:Exoc6b UTSW 6 84,980,141 (GRCm39) intron probably benign
R4624:Exoc6b UTSW 6 84,831,791 (GRCm39) splice site probably benign
R4845:Exoc6b UTSW 6 84,812,119 (GRCm39) missense probably benign 0.04
R5366:Exoc6b UTSW 6 84,867,513 (GRCm39) missense probably benign
R5603:Exoc6b UTSW 6 84,812,126 (GRCm39) missense possibly damaging 0.96
R5635:Exoc6b UTSW 6 84,828,909 (GRCm39) missense probably damaging 0.99
R5728:Exoc6b UTSW 6 84,837,173 (GRCm39) missense probably damaging 1.00
R6188:Exoc6b UTSW 6 84,832,479 (GRCm39) missense probably damaging 0.99
R7030:Exoc6b UTSW 6 84,825,807 (GRCm39) missense probably damaging 0.99
R7058:Exoc6b UTSW 6 84,831,704 (GRCm39) missense probably damaging 1.00
R7259:Exoc6b UTSW 6 84,825,792 (GRCm39) missense probably benign 0.40
R7574:Exoc6b UTSW 6 84,768,366 (GRCm39) critical splice acceptor site probably null
R7607:Exoc6b UTSW 6 84,966,391 (GRCm39) missense possibly damaging 0.67
R7918:Exoc6b UTSW 6 85,046,332 (GRCm39) missense probably damaging 0.96
R8146:Exoc6b UTSW 6 84,885,176 (GRCm39) missense probably benign 0.00
R8356:Exoc6b UTSW 6 84,821,077 (GRCm39) frame shift probably null
R8456:Exoc6b UTSW 6 84,821,077 (GRCm39) frame shift probably null
R9099:Exoc6b UTSW 6 84,982,000 (GRCm39) missense possibly damaging 0.88
R9608:Exoc6b UTSW 6 84,602,106 (GRCm39) critical splice donor site probably null
R9620:Exoc6b UTSW 6 84,988,302 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCACTTACATATGGGAGCATAAAGG -3'
(R):5'- AGTTCTCTGATTGAGCCTTTGC -3'

Sequencing Primer
(F):5'- TTCAAGATAAAGCATGGCATGTGC -3'
(R):5'- CCTTTGCTACCTTGTGCTAGGAAATG -3'
Posted On 2020-07-13