Incidental Mutation 'R7259:Exoc6b'
ID 564479
Institutional Source Beutler Lab
Gene Symbol Exoc6b
Ensembl Gene ENSMUSG00000033769
Gene Name exocyst complex component 6B
Synonyms Sec15b, Sec15l2, 4930569O18Rik, G430127E12Rik
MMRRC Submission 045351-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R7259 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 84595469-85046495 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84825792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 540 (S540P)
Ref Sequence ENSEMBL: ENSMUSP00000125312 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160197] [ENSMUST00000162821]
AlphaFold A6H5Z3
Predicted Effect probably benign
Transcript: ENSMUST00000160197
AA Change: S540P

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000125312
Gene: ENSMUSG00000033769
AA Change: S540P

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (64/64)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adarb2 A G 13: 8,620,288 (GRCm39) Y258C probably benign Het
Aebp2 A G 6: 140,579,494 (GRCm39) S244G probably benign Het
Agl A T 3: 116,578,230 (GRCm39) Y495N probably damaging Het
Arhgap33 A G 7: 30,231,625 (GRCm39) V120A probably damaging Het
Asb14 C T 14: 26,625,412 (GRCm39) H256Y probably benign Het
Atp2a2 A G 5: 122,604,132 (GRCm39) Y434H probably benign Het
Atrnl1 C T 19: 57,924,038 (GRCm39) R1268* probably null Het
AW554918 A G 18: 25,422,906 (GRCm39) probably null Het
Canx A G 11: 50,192,643 (GRCm39) W324R probably damaging Het
Col9a1 A G 1: 24,224,424 (GRCm39) E202G unknown Het
Crh C A 3: 19,748,418 (GRCm39) A75S possibly damaging Het
Ctnnal1 T A 4: 56,817,299 (GRCm39) probably null Het
Dmrta2 T A 4: 109,839,104 (GRCm39) S284T possibly damaging Het
Dock1 T C 7: 134,384,477 (GRCm39) V680A probably damaging Het
Duox2 G A 2: 122,125,657 (GRCm39) R317C probably damaging Het
Elmod2 A G 8: 84,048,138 (GRCm39) L108P probably damaging Het
Fsip2 C T 2: 82,812,474 (GRCm39) A2931V possibly damaging Het
Gipc2 A T 3: 151,833,693 (GRCm39) I196K probably damaging Het
Gli2 A G 1: 118,764,264 (GRCm39) S1296P probably benign Het
Gm21103 T A 14: 17,482,882 (GRCm39) Q173L probably damaging Het
Gpatch1 A T 7: 34,986,546 (GRCm39) probably null Het
Grm8 G A 6: 27,760,175 (GRCm39) T385I probably null Het
Gtf2f1 C A 17: 57,311,562 (GRCm39) D283Y probably damaging Het
Hcar1 T A 5: 124,017,275 (GRCm39) T139S possibly damaging Het
Hcrtr1 T A 4: 130,029,611 (GRCm39) T157S possibly damaging Het
Htra2 T G 6: 83,028,520 (GRCm39) Q436P possibly damaging Het
Igkv1-133 A G 6: 67,702,522 (GRCm39) D80G probably benign Het
Il21 C A 3: 37,281,803 (GRCm39) probably null Het
Inpp5f T A 7: 128,271,681 (GRCm39) C359S probably benign Het
Itgb6 A T 2: 60,480,355 (GRCm39) I327N probably damaging Het
Itgbl1 A T 14: 124,081,316 (GRCm39) T232S probably damaging Het
Kif1a T A 1: 93,001,532 (GRCm39) K266* probably null Het
Mcm10 C A 2: 5,011,328 (GRCm39) E214D probably benign Het
Mefv T A 16: 3,530,917 (GRCm39) I522F probably damaging Het
Naaladl2 T A 3: 24,112,340 (GRCm39) I581F possibly damaging Het
Naip6 A T 13: 100,440,863 (GRCm39) Y306N probably damaging Het
Opn1sw T A 6: 29,378,911 (GRCm39) H247L probably benign Het
Or4c119 A C 2: 88,986,854 (GRCm39) F222V probably benign Het
Or51v15-ps1 A T 7: 103,278,966 (GRCm39) M67K probably damaging Het
Or5k1b T C 16: 58,580,868 (GRCm39) T224A possibly damaging Het
Or6c68 T A 10: 129,157,663 (GRCm39) M57K probably benign Het
Pbxip1 C A 3: 89,352,940 (GRCm39) F195L probably benign Het
Pcdh12 A T 18: 38,414,677 (GRCm39) F816Y probably benign Het
Pi4k2b C A 5: 52,910,587 (GRCm39) N290K probably damaging Het
Pias2 T C 18: 77,240,416 (GRCm39) S598P possibly damaging Het
Ppfia4 A G 1: 134,240,838 (GRCm39) V835A probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rnf213 A G 11: 119,343,401 (GRCm39) I3589V Het
Scg2 T C 1: 79,414,702 (GRCm39) Y7C probably benign Het
Sec16a A G 2: 26,331,604 (GRCm39) V137A probably benign Het
Setdb1 G A 3: 95,247,224 (GRCm39) T525I probably benign Het
Sgcg A T 14: 61,462,666 (GRCm39) I227N probably benign Het
Slc35e4 A T 11: 3,862,530 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Stk10 A G 11: 32,548,497 (GRCm39) N355S probably benign Het
Supt6 A T 11: 78,098,442 (GRCm39) D1716E probably damaging Het
Taok3 C T 5: 117,390,608 (GRCm39) A523V probably benign Het
Tekt3 A G 11: 62,974,592 (GRCm39) T304A possibly damaging Het
Ttc6 G T 12: 57,622,970 (GRCm39) R123L probably benign Het
Tyw1 T A 5: 130,296,713 (GRCm39) probably null Het
Ulk2 A G 11: 61,672,909 (GRCm39) L895P probably damaging Het
Unc13c A T 9: 73,424,645 (GRCm39) N1990K probably benign Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Wipf1 A G 2: 73,265,425 (GRCm39) S393P probably damaging Het
Yju2b T C 8: 84,986,946 (GRCm39) S184G probably 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
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'- ACACCAATCACTAGGCTTTTGC -3'
(R):5'- TGCTGCTAATCCTCTACAACTG -3'

Sequencing Primer
(F):5'- CCAATCACTAGGCTTTTGCTAAAC -3'
(R):5'- AACTGTTACTCCTGCAAGACTG -3'
Posted On 2019-06-26