Incidental Mutation 'R6988:Exoc6'
ID 543113
Institutional Source Beutler Lab
Gene Symbol Exoc6
Ensembl Gene ENSMUSG00000053799
Gene Name exocyst complex component 6
Synonyms msec15, 4833405E05Rik, hbd, Sec15l1, Sec15
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6988 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 37525181-37672499 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37597539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 647 (F647I)
Ref Sequence ENSEMBL: ENSMUSP00000064332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066439]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066439
AA Change: F647I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799
AA Change: F647I

DomainStartEndE-ValueType
low complexity region 265 273 N/A INTRINSIC
Pfam:Sec15 456 762 8.1e-109 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the Saccharomyces cerevisiae SEC15 gene product, which is essential for vesicular traffic from the Golgi apparatus to the cell surface in yeast. It is one of the components of a multiprotein complex required for exocytosis. The 5' portion of this gene and two neighboring cytochrome p450 genes are included in a deletion that results in an autosomal-dominant form of nonsyndromic optic nerve aplasia (ONA). Alternative splicing and the use of alternative promoters results in multiple transcript variants. A paralogous gene encoding a similar protein is present on chromosome 2. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit severe microcytic anemia, erythrocyte hyperchromia, and markedly increased levels of red cell protoporphyrin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013G24Rik T G 4: 137,181,890 (GRCm39) L15W probably damaging Het
4930550C14Rik G A 9: 53,323,056 (GRCm39) V31I possibly damaging Het
Aadacl4fm4 A G 4: 144,412,895 (GRCm39) F15S probably benign Het
Adgre1 C T 17: 57,715,445 (GRCm39) S255F probably benign Het
Aff4 T G 11: 53,289,064 (GRCm39) S404R probably damaging Het
Akr1c19 A T 13: 4,283,757 (GRCm39) probably benign Het
Ankrd31 T A 13: 97,014,757 (GRCm39) I1342K probably damaging Het
Arhgap5 T A 12: 52,564,908 (GRCm39) D626E possibly damaging Het
Arhgef1 G A 7: 24,616,348 (GRCm39) V332I probably benign Het
AY358078 A G 14: 52,063,644 (GRCm39) E430G probably damaging Het
B4gat1 T A 19: 5,090,462 (GRCm39) I395N probably benign Het
Bub1b T A 2: 118,467,311 (GRCm39) I878N probably damaging Het
Ccdc150 C T 1: 54,394,868 (GRCm39) Q745* probably null Het
Ccl19 A T 4: 42,754,885 (GRCm39) I87N probably damaging Het
Ces2g G C 8: 105,690,540 (GRCm39) G107A probably benign Het
Chpt1 A G 10: 88,324,268 (GRCm39) V180A probably damaging Het
Col2a1 T C 15: 97,902,335 (GRCm39) T14A unknown Het
Dnah7a T C 1: 53,621,784 (GRCm39) I1114V possibly damaging Het
Dnah7c T C 1: 46,705,373 (GRCm39) I2462T possibly damaging Het
Dnah8 T C 17: 30,862,249 (GRCm39) F208S probably damaging Het
Dnhd1 A G 7: 105,363,417 (GRCm39) E3993G probably damaging Het
Erv3 C T 2: 131,697,886 (GRCm39) D158N possibly damaging Het
Fbrs G A 7: 127,078,680 (GRCm39) probably benign Het
Fgfr1op2 T C 6: 146,491,463 (GRCm39) F109L probably damaging Het
Fv1 T C 4: 147,953,728 (GRCm39) F98S possibly damaging Het
H2-M10.1 T C 17: 36,636,484 (GRCm39) K107E probably benign Het
Hspg2 A T 4: 137,256,201 (GRCm39) Q1436L probably damaging Het
Ighv1-74 T C 12: 115,766,383 (GRCm39) Y79C probably damaging Het
Kcnj1 G A 9: 32,307,881 (GRCm39) V102I probably benign Het
Mnt C A 11: 74,733,635 (GRCm39) probably benign Het
Mrpl15 T C 1: 4,852,883 (GRCm39) T112A probably benign Het
Ncdn T C 4: 126,640,982 (GRCm39) D506G probably benign Het
Ogdh C T 11: 6,263,806 (GRCm39) R81* probably null Het
Or6c2 T A 10: 129,362,542 (GRCm39) S149T probably benign Het
Or6c217 G C 10: 129,738,278 (GRCm39) F100L probably damaging Het
Pole G T 5: 110,477,449 (GRCm39) V1863F probably damaging Het
Pramel5 T C 4: 144,000,577 (GRCm39) probably benign Het
Rabep1 A G 11: 70,825,363 (GRCm39) K636E probably damaging Het
Rasgrf2 T A 13: 92,033,754 (GRCm39) Y1151F probably benign Het
Rrad A G 8: 105,357,268 (GRCm39) V93A probably damaging Het
Sesn3 A T 9: 14,221,553 (GRCm39) R118* probably null Het
Slc27a3 T C 3: 90,293,597 (GRCm39) N596S probably benign Het
Snx19 C A 9: 30,340,231 (GRCm39) D456E probably damaging Het
Spata31h1 T C 10: 82,127,733 (GRCm39) D1759G possibly damaging Het
Supt20 T C 3: 54,606,018 (GRCm39) S35P probably damaging Het
Syde2 G T 3: 145,725,564 (GRCm39) R885L probably benign Het
Synm G A 7: 67,383,406 (GRCm39) L1419F probably damaging Het
Tekt2 A G 4: 126,217,236 (GRCm39) F221L probably benign Het
Ticam1 C T 17: 56,576,900 (GRCm39) E732K probably benign Het
Tmem39b A G 4: 129,586,941 (GRCm39) I90T possibly damaging Het
Trgv6 G T 13: 19,374,814 (GRCm39) G40W possibly damaging Het
Trib2 A G 12: 15,865,339 (GRCm39) S79P probably damaging Het
Usp32 T C 11: 84,900,969 (GRCm39) M1084V probably benign Het
Vmn1r181 T C 7: 23,684,272 (GRCm39) F246L probably damaging Het
Wnt16 A G 6: 22,288,510 (GRCm39) D2G probably damaging Het
Zfp462 A G 4: 55,080,716 (GRCm39) E1357G probably benign Het
Zhx3 A G 2: 160,621,788 (GRCm39) M793T probably benign Het
Other mutations in Exoc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Exoc6 APN 19 37,578,324 (GRCm39) missense possibly damaging 0.68
IGL01716:Exoc6 APN 19 37,671,412 (GRCm39) missense probably damaging 0.98
IGL02363:Exoc6 APN 19 37,597,402 (GRCm39) missense probably damaging 1.00
IGL02383:Exoc6 APN 19 37,566,922 (GRCm39) missense probably benign
IGL03394:Exoc6 APN 19 37,588,020 (GRCm39) missense probably benign 0.15
australamerican UTSW 19 37,587,127 (GRCm39) critical splice donor site probably null
IGL03046:Exoc6 UTSW 19 37,582,217 (GRCm39) critical splice donor site probably null
R1156:Exoc6 UTSW 19 37,671,345 (GRCm39) missense probably benign 0.05
R1489:Exoc6 UTSW 19 37,585,568 (GRCm39) missense possibly damaging 0.71
R1747:Exoc6 UTSW 19 37,628,217 (GRCm39) splice site probably null
R2125:Exoc6 UTSW 19 37,579,389 (GRCm39) missense probably damaging 1.00
R2863:Exoc6 UTSW 19 37,641,861 (GRCm39) missense probably benign 0.34
R4090:Exoc6 UTSW 19 37,560,360 (GRCm39) missense probably benign
R4666:Exoc6 UTSW 19 37,558,953 (GRCm39) missense probably damaging 0.97
R4674:Exoc6 UTSW 19 37,597,530 (GRCm39) missense probably damaging 1.00
R5382:Exoc6 UTSW 19 37,587,127 (GRCm39) critical splice donor site probably null
R5471:Exoc6 UTSW 19 37,588,065 (GRCm39) missense probably benign 0.30
R5533:Exoc6 UTSW 19 37,582,218 (GRCm39) splice site probably null
R5607:Exoc6 UTSW 19 37,566,977 (GRCm39) missense probably benign 0.01
R5641:Exoc6 UTSW 19 37,576,081 (GRCm39) splice site probably null
R5759:Exoc6 UTSW 19 37,562,189 (GRCm39) nonsense probably null
R5889:Exoc6 UTSW 19 37,570,693 (GRCm39) missense probably damaging 1.00
R6592:Exoc6 UTSW 19 37,560,360 (GRCm39) missense probably benign
R6936:Exoc6 UTSW 19 37,560,311 (GRCm39) missense probably benign 0.00
R7088:Exoc6 UTSW 19 37,565,458 (GRCm39) missense probably damaging 0.99
R7162:Exoc6 UTSW 19 37,565,566 (GRCm39) missense probably damaging 0.97
R7948:Exoc6 UTSW 19 37,565,422 (GRCm39) missense probably benign 0.00
R8266:Exoc6 UTSW 19 37,565,497 (GRCm39) missense probably benign 0.00
R8525:Exoc6 UTSW 19 37,597,440 (GRCm39) missense possibly damaging 0.53
R8917:Exoc6 UTSW 19 37,578,360 (GRCm39) missense probably benign 0.35
R9003:Exoc6 UTSW 19 37,587,097 (GRCm39) missense probably damaging 1.00
R9159:Exoc6 UTSW 19 37,597,478 (GRCm39) missense probably benign 0.00
R9435:Exoc6 UTSW 19 37,585,545 (GRCm39) missense probably benign 0.00
R9459:Exoc6 UTSW 19 37,574,341 (GRCm39) missense probably benign 0.00
R9527:Exoc6 UTSW 19 37,558,987 (GRCm39) missense probably benign 0.26
R9563:Exoc6 UTSW 19 37,588,071 (GRCm39) missense probably damaging 1.00
R9730:Exoc6 UTSW 19 37,588,032 (GRCm39) missense probably benign 0.02
RF009:Exoc6 UTSW 19 37,560,068 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTCTCAGGATGCTCGACATG -3'
(R):5'- CCTTCACACAGGCTCCTTTTAAAG -3'

Sequencing Primer
(F):5'- ATGCTCGACATGCGGCAG -3'
(R):5'- CTGTTAATTTCAGAAGTTTGCTTTGC -3'
Posted On 2018-11-28