Incidental Mutation 'R9527:Exoc6'
ID 719322
Institutional Source Beutler Lab
Gene Symbol Exoc6
Ensembl Gene ENSMUSG00000053799
Gene Name exocyst complex component 6
Synonyms msec15, Sec15l1, 4833405E05Rik, Sec15, hbd
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9527 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 37550418-37683245 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 37570539 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 86 (D86E)
Ref Sequence ENSEMBL: ENSMUSP00000064332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066439]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000066439
AA Change: D86E

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799
AA Change: D86E

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: 99.7%
  • 20x: 99.0%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 128,044,364 D453G probably benign Het
Aqr A C 2: 114,101,556 S1443R probably benign Het
Atr T C 9: 95,885,376 M1162T probably damaging Het
Bicdl1 T A 5: 115,673,129 N241I possibly damaging Het
Catip A G 1: 74,362,478 N38S probably benign Het
Ccdc130 A T 8: 84,263,023 C56S probably damaging Het
Cct6b A G 11: 82,739,621 probably null Het
Clspn A T 4: 126,559,999 R72* probably null Het
Cntln A G 4: 84,973,883 Q335R probably damaging Het
Col9a2 T C 4: 121,042,331 probably null Het
Dip2c A G 13: 9,494,839 N55D unknown Het
Dnajc5b A T 3: 19,579,084 D157V probably damaging Het
Fam204a A T 19: 60,220,560 H87Q probably damaging Het
Fam208b A T 13: 3,585,191 S539T possibly damaging Het
Fer1l4 A G 2: 156,029,697 W1388R probably damaging Het
Hcn2 A T 10: 79,734,872 I642F probably benign Het
Igsf9 C A 1: 172,495,677 L653M probably damaging Het
Imp4 A G 1: 34,442,910 E38G probably benign Het
Kirrel C A 3: 87,089,605 E297* probably null Het
Krt82 G A 15: 101,546,123 T222I probably benign Het
Lysmd1 T C 3: 95,134,845 L10P probably benign Het
Mcmbp A G 7: 128,703,518 S509P probably damaging Het
Mms19 A T 19: 41,964,391 I93N possibly damaging Het
Mtmr7 A G 8: 40,558,304 F402L possibly damaging Het
Myo1h C T 5: 114,315,037 R49C Het
Scd3 T C 19: 44,238,377 Y217H probably benign Het
Snx17 T C 5: 31,196,482 Y205H probably damaging Het
Spag17 T A 3: 100,063,461 D1320E probably damaging Het
Xirp1 C A 9: 120,018,492 V442L probably damaging Het
Xrcc5 G A 1: 72,329,932 R315H probably damaging Het
Zc3hav1 C A 6: 38,353,978 C82F probably damaging Het
Zfp787 A G 7: 6,133,028 F75L probably damaging Het
Zswim3 C T 2: 164,820,365 T255I probably damaging Het
Other mutations in Exoc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Exoc6 APN 19 37589876 missense possibly damaging 0.68
IGL01716:Exoc6 APN 19 37682964 missense probably damaging 0.98
IGL02363:Exoc6 APN 19 37608954 missense probably damaging 1.00
IGL02383:Exoc6 APN 19 37578474 missense probably benign
IGL03394:Exoc6 APN 19 37599572 missense probably benign 0.15
australamerican UTSW 19 37598679 critical splice donor site probably null
IGL03046:Exoc6 UTSW 19 37593769 critical splice donor site probably null
R1156:Exoc6 UTSW 19 37682897 missense probably benign 0.05
R1489:Exoc6 UTSW 19 37597120 missense possibly damaging 0.71
R1747:Exoc6 UTSW 19 37639769 splice site probably null
R2125:Exoc6 UTSW 19 37590941 missense probably damaging 1.00
R2863:Exoc6 UTSW 19 37653413 missense probably benign 0.34
R4090:Exoc6 UTSW 19 37571912 missense probably benign
R4666:Exoc6 UTSW 19 37570505 missense probably damaging 0.97
R4674:Exoc6 UTSW 19 37609082 missense probably damaging 1.00
R5382:Exoc6 UTSW 19 37598679 critical splice donor site probably null
R5471:Exoc6 UTSW 19 37599617 missense probably benign 0.30
R5533:Exoc6 UTSW 19 37593770 splice site probably null
R5607:Exoc6 UTSW 19 37578529 missense probably benign 0.01
R5641:Exoc6 UTSW 19 37587633 splice site probably null
R5759:Exoc6 UTSW 19 37573741 nonsense probably null
R5889:Exoc6 UTSW 19 37582245 missense probably damaging 1.00
R6592:Exoc6 UTSW 19 37571912 missense probably benign
R6936:Exoc6 UTSW 19 37571863 missense probably benign 0.00
R6988:Exoc6 UTSW 19 37609091 missense probably damaging 1.00
R7088:Exoc6 UTSW 19 37577010 missense probably damaging 0.99
R7162:Exoc6 UTSW 19 37577118 missense probably damaging 0.97
R7948:Exoc6 UTSW 19 37576974 missense probably benign 0.00
R8266:Exoc6 UTSW 19 37577049 missense probably benign 0.00
R8525:Exoc6 UTSW 19 37608992 missense possibly damaging 0.53
R8917:Exoc6 UTSW 19 37589912 missense probably benign 0.35
R9003:Exoc6 UTSW 19 37598649 missense probably damaging 1.00
R9159:Exoc6 UTSW 19 37609030 missense probably benign 0.00
R9435:Exoc6 UTSW 19 37597097 missense probably benign 0.00
R9459:Exoc6 UTSW 19 37585893 missense probably benign 0.00
R9563:Exoc6 UTSW 19 37599623 missense probably damaging 1.00
R9730:Exoc6 UTSW 19 37599584 missense probably benign 0.02
RF009:Exoc6 UTSW 19 37571620 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGAAAACCTTTTGCCGACTG -3'
(R):5'- GGCATTAGAGGATAGCTTTTAACAC -3'

Sequencing Primer
(F):5'- AACCTTTTGCCGACTGAGACG -3'
(R):5'- GCTTTTAACACCATTGTATTATTGCC -3'
Posted On 2022-07-18