Incidental Mutation 'R2138:Exoc6b'
ID 235953
Institutional Source Beutler Lab
Gene Symbol Exoc6b
Ensembl Gene ENSMUSG00000033769
Gene Name exocyst complex component 6B
Synonyms Sec15b, Sec15l2, 4930569O18Rik, G430127E12Rik
MMRRC Submission 040141-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R2138 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 84595469-85046495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84966464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 170 (L170Q)
Ref Sequence ENSEMBL: ENSMUSP00000125312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160197] [ENSMUST00000162821]
AlphaFold A6H5Z3
Predicted Effect noncoding transcript
Transcript: ENSMUST00000046334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000051531
Predicted Effect probably damaging
Transcript: ENSMUST00000160197
AA Change: L170Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: L170Q

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,323,122 (GRCm39) V6A probably benign Het
Abcc6 A G 7: 45,630,475 (GRCm39) F1262L probably damaging Het
Acot13 A T 13: 25,002,188 (GRCm39) probably null Het
Adgrv1 T C 13: 81,593,439 (GRCm39) I4183V probably benign Het
Aff4 T G 11: 53,263,339 (GRCm39) S120A possibly damaging Het
Afp A G 5: 90,647,506 (GRCm39) E250G probably damaging Het
Ankrd34b A T 13: 92,575,914 (GRCm39) D382V probably damaging Het
Arhgef19 A T 4: 140,978,111 (GRCm39) I577F probably damaging Het
Arl6 A G 16: 59,442,830 (GRCm39) probably benign Het
Atp2b2 A T 6: 113,773,268 (GRCm39) M333K probably benign Het
Atp8b3 C A 10: 80,362,939 (GRCm39) A635S possibly damaging Het
Baiap2 A G 11: 119,847,928 (GRCm39) T19A possibly damaging Het
Bcar3 A G 3: 122,306,645 (GRCm39) D206G probably damaging Het
Ccdc162 A T 10: 41,457,293 (GRCm39) M85K probably benign Het
Clec4a4 A G 6: 123,000,937 (GRCm39) N217D probably damaging Het
Csmd1 T C 8: 15,979,088 (GRCm39) Y2832C probably damaging Het
Cubn A G 2: 13,449,189 (GRCm39) I962T probably damaging Het
Dennd4a A G 9: 64,796,619 (GRCm39) Y852C probably damaging Het
Dhcr24 G T 4: 106,429,499 (GRCm39) E191* probably null Het
Dusp12 G A 1: 170,708,166 (GRCm39) Q114* probably null Het
Elfn2 G T 15: 78,558,238 (GRCm39) T103K probably benign Het
Eme1 A T 11: 94,539,018 (GRCm39) V314E probably damaging Het
Epb41l3 A G 17: 69,514,875 (GRCm39) E4G probably damaging Het
Fbln5 C T 12: 101,728,179 (GRCm39) M261I probably benign Het
Fgf22 T C 10: 79,592,435 (GRCm39) V64A probably damaging Het
Gak C T 5: 108,754,743 (GRCm39) probably null Het
Gatad2b T A 3: 90,259,420 (GRCm39) S401R probably damaging Het
Gen1 A T 12: 11,291,622 (GRCm39) S722R probably damaging Het
Gm10754 A T 10: 97,518,132 (GRCm39) probably benign Het
Grid2 G A 6: 64,322,782 (GRCm39) R594Q probably damaging Het
Grm7 C A 6: 110,623,098 (GRCm39) N90K probably damaging Het
Herc1 G A 9: 66,377,589 (GRCm39) V3452M possibly damaging Het
Il22ra2 T A 10: 19,508,618 (GRCm39) F215L probably benign Het
Kank1 G A 19: 25,389,117 (GRCm39) G930D probably benign Het
Klra3 A T 6: 130,310,121 (GRCm39) V133D probably benign Het
Lims2 A G 18: 32,088,460 (GRCm39) E220G possibly damaging Het
Mbd3l2 A T 9: 18,356,254 (GRCm39) D193V probably damaging Het
Mbl1 T A 14: 40,875,648 (GRCm39) I34K possibly damaging Het
Mgam C T 6: 40,733,384 (GRCm39) P839S probably damaging Het
Mmp9 G T 2: 164,794,387 (GRCm39) E460* probably null Het
Mov10 T C 3: 104,711,558 (GRCm39) H316R probably benign Het
Ms4a18 A T 19: 10,974,695 (GRCm39) V332D possibly damaging Het
Myo15b T C 11: 115,774,633 (GRCm39) S2082P probably benign Het
Myrfl G A 10: 116,631,443 (GRCm39) T706I probably benign Het
Nampt C A 12: 32,888,421 (GRCm39) H191N possibly damaging Het
Niban1 G A 1: 151,572,002 (GRCm39) V316M probably damaging Het
Nphp3 A G 9: 103,903,102 (GRCm39) E693G possibly damaging Het
Obscn A T 11: 58,894,491 (GRCm39) Y1191* probably null Het
Or10z1 A T 1: 174,078,302 (GRCm39) probably null Het
Or1r1 A T 11: 73,875,129 (GRCm39) Y102N probably damaging Het
Or7a40 A G 16: 16,491,069 (GRCm39) Y259H probably damaging Het
Osbpl10 A G 9: 115,061,202 (GRCm39) N760S probably benign Het
Otof A G 5: 30,619,114 (GRCm39) V10A probably benign Het
Pkhd1l1 A C 15: 44,364,853 (GRCm39) E664A probably damaging Het
Pnp2 T C 14: 51,201,161 (GRCm39) S178P probably damaging Het
Pvr G A 7: 19,650,927 (GRCm39) T199I probably damaging Het
Rbp3 C T 14: 33,677,975 (GRCm39) T641M probably damaging Het
Rnaseh2b T C 14: 62,598,794 (GRCm39) V173A probably benign Het
Septin12 C T 16: 4,810,070 (GRCm39) R155H probably damaging Het
Slco6d1 G T 1: 98,371,385 (GRCm39) R290L probably benign Het
Snx32 A G 19: 5,546,157 (GRCm39) V335A probably damaging Het
Son T C 16: 91,456,260 (GRCm39) V1669A possibly damaging Het
Speer1f A T 5: 11,469,052 (GRCm39) R68* probably null Het
Tbata C T 10: 61,015,063 (GRCm39) T116I probably benign Het
Tdrd1 T A 19: 56,831,021 (GRCm39) S279T probably benign Het
Thsd7a A T 6: 12,471,072 (GRCm39) Y515* probably null Het
Tmem102 T G 11: 69,695,940 (GRCm39) L40F probably damaging Het
Tmem169 A G 1: 72,340,155 (GRCm39) N195S probably damaging Het
Tmem201 A T 4: 149,802,537 (GRCm39) S613T probably damaging Het
Tnfaip6 A T 2: 51,942,344 (GRCm39) I218F possibly damaging Het
Tube1 C A 10: 39,023,347 (GRCm39) H331Q probably benign Het
Wwc1 G A 11: 35,732,714 (GRCm39) T998I possibly damaging Het
Xpc A T 6: 91,475,104 (GRCm39) Y638* probably null Het
Zdhhc4 A T 5: 143,310,017 (GRCm39) Y80* probably null 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
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
R8204:Exoc6b UTSW 6 84,832,504 (GRCm39) missense probably damaging 1.00
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'- ACAAACCAAGGACCTACTTGCTT -3'
(R):5'- ATTTCATTGGTGTTCATGATTACTTG -3'

Sequencing Primer
(F):5'- AAGGACCTACTTGCTTCATGGCAG -3'
(R):5'- CAACAAAAGCTAATCGAGGT -3'
Posted On 2014-10-01