Incidental Mutation 'IGL01716:Exoc6'
ID 104941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc6
Ensembl Gene ENSMUSG00000053799
Gene Name exocyst complex component 6
Synonyms msec15, Sec15l1, 4833405E05Rik, Sec15, hbd
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01716
Quality Score
Status
Chromosome 19
Chromosomal Location 37550418-37683245 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 37682964 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 801 (S801T)
Ref Sequence ENSEMBL: ENSMUSP00000064332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066439] [ENSMUST00000073391]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000066439
AA Change: S801T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000064332
Gene: ENSMUSG00000053799
AA Change: S801T

DomainStartEndE-ValueType
low complexity region 265 273 N/A INTRINSIC
Pfam:Sec15 456 762 8.1e-109 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000073391
SMART Domains Protein: ENSMUSP00000073105
Gene: ENSMUSG00000062432

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:p450 50 499 6.4e-54 PFAM
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 G A 6: 85,628,094 R1773Q probably benign Het
Apba2 T C 7: 64,745,826 probably benign Het
Asap2 A G 12: 21,254,306 D741G possibly damaging Het
Cfap65 T C 1: 74,927,194 T325A probably benign Het
Cyp2b23 A T 7: 26,679,490 V183E probably damaging Het
Cyp4f14 T A 17: 32,905,496 probably benign Het
Dip2b A G 15: 100,209,636 T1176A probably benign Het
Dnah1 A G 14: 31,263,378 I3852T probably benign Het
E430018J23Rik A G 7: 127,392,036 S260P possibly damaging Het
Fancd2os T C 6: 113,597,654 I130M probably damaging Het
Flywch1 A G 17: 23,763,026 V68A probably benign Het
Kif24 T C 4: 41,393,454 T1140A probably benign Het
Limk2 C T 11: 3,358,990 probably null Het
Mag C T 7: 30,900,387 V576I probably benign Het
Mei4 C T 9: 81,890,182 A16V probably damaging Het
Ncoa7 A G 10: 30,662,334 I685T probably damaging Het
Nfxl1 A T 5: 72,540,934 V256E probably damaging Het
Olfr1015 A T 2: 85,786,143 I211F probably damaging Het
Olfr352 T A 2: 36,869,667 F34I probably benign Het
Olfr403 C T 11: 74,196,381 R293W probably benign Het
Pcdhb2 T C 18: 37,296,738 V588A probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pcdhb9 T A 18: 37,403,175 S741T probably damaging Het
Plekha4 C A 7: 45,534,343 S66R probably damaging Het
Prex2 A G 1: 11,266,054 N1492S probably benign Het
Rbfox3 T C 11: 118,513,289 H28R possibly damaging Het
Reep2 C T 18: 34,846,249 T209I probably benign Het
Rptn A G 3: 93,396,710 H450R possibly damaging Het
Spock3 A G 8: 63,355,350 D427G unknown Het
Tnfrsf1b C T 4: 145,215,923 C430Y probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Tubgcp3 T C 8: 12,641,094 probably benign Het
Upp2 A C 2: 58,790,046 T295P probably damaging Het
Xpo7 A G 14: 70,685,555 V528A probably damaging Het
Zc3h7a A G 16: 11,145,716 C714R probably damaging Het
Zpbp A T 11: 11,404,052 S295T probably benign Het
Other mutations in Exoc6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01432:Exoc6 APN 19 37589876 missense possibly damaging 0.68
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
R9527:Exoc6 UTSW 19 37570539 missense probably benign 0.26
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
Posted On 2014-01-21