Incidental Mutation 'R6511:Exoc3l'
ID 519916
Institutional Source Beutler Lab
Gene Symbol Exoc3l
Ensembl Gene ENSMUSG00000043251
Gene Name exocyst complex component 3-like
Synonyms C730015A04Rik
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106016556-106022733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 106019887 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 346 (T346K)
Ref Sequence ENSEMBL: ENSMUSP00000053766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014981] [ENSMUST00000015003] [ENSMUST00000057855] [ENSMUST00000171788] [ENSMUST00000212777] [ENSMUST00000212922] [ENSMUST00000212219]
AlphaFold Q8BI71
Predicted Effect probably benign
Transcript: ENSMUST00000014981
SMART Domains Protein: ENSMUSP00000014981
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000015003
SMART Domains Protein: ENSMUSP00000015003
Gene: ENSMUSG00000014859

DomainStartEndE-ValueType
low complexity region 4 15 N/A INTRINSIC
E2F_TDP 17 83 3.56e-31 SMART
Pfam:E2F_CC-MB 100 196 2.8e-36 PFAM
low complexity region 201 252 N/A INTRINSIC
low complexity region 360 372 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000057855
AA Change: T346K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: T346K

DomainStartEndE-ValueType
Pfam:Sec6 189 722 5.4e-116 PFAM
low complexity region 723 739 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000171788
SMART Domains Protein: ENSMUSP00000128530
Gene: ENSMUSG00000014837

DomainStartEndE-ValueType
DUF1704 148 457 1.07e-139 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212974
Predicted Effect probably benign
Transcript: ENSMUST00000212777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212261
Predicted Effect probably benign
Transcript: ENSMUST00000212922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212288
Predicted Effect probably benign
Transcript: ENSMUST00000212219
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212529
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Zfp2 A T 11: 50,791,234 (GRCm39) C270S probably damaging Het
Other mutations in Exoc3l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00949:Exoc3l APN 8 106,017,130 (GRCm39) missense probably benign 0.25
IGL01731:Exoc3l APN 8 106,019,587 (GRCm39) missense probably benign 0.16
IGL02364:Exoc3l APN 8 106,017,209 (GRCm39) missense possibly damaging 0.71
IGL02413:Exoc3l APN 8 106,019,070 (GRCm39) missense probably damaging 1.00
IGL02512:Exoc3l APN 8 106,017,115 (GRCm39) missense probably damaging 1.00
IGL02810:Exoc3l APN 8 106,021,980 (GRCm39) missense probably damaging 1.00
R0045:Exoc3l UTSW 8 106,020,317 (GRCm39) missense probably damaging 1.00
R0045:Exoc3l UTSW 8 106,020,317 (GRCm39) missense probably damaging 1.00
R0183:Exoc3l UTSW 8 106,021,932 (GRCm39) missense probably damaging 1.00
R0302:Exoc3l UTSW 8 106,020,175 (GRCm39) missense probably benign 0.01
R1660:Exoc3l UTSW 8 106,019,692 (GRCm39) critical splice donor site probably null
R1699:Exoc3l UTSW 8 106,021,645 (GRCm39) missense probably benign 0.34
R1826:Exoc3l UTSW 8 106,020,250 (GRCm39) missense probably damaging 0.97
R2275:Exoc3l UTSW 8 106,017,079 (GRCm39) critical splice donor site probably null
R3928:Exoc3l UTSW 8 106,017,549 (GRCm39) unclassified probably benign
R3938:Exoc3l UTSW 8 106,020,037 (GRCm39) missense probably damaging 1.00
R4261:Exoc3l UTSW 8 106,017,599 (GRCm39) missense probably damaging 0.98
R4273:Exoc3l UTSW 8 106,016,593 (GRCm39) makesense probably null
R5518:Exoc3l UTSW 8 106,019,795 (GRCm39) missense probably benign 0.27
R6471:Exoc3l UTSW 8 106,017,166 (GRCm39) missense probably damaging 1.00
R6631:Exoc3l UTSW 8 106,021,993 (GRCm39) missense probably damaging 1.00
R6694:Exoc3l UTSW 8 106,017,122 (GRCm39) missense probably benign 0.15
R6843:Exoc3l UTSW 8 106,016,729 (GRCm39) missense probably benign 0.00
R7310:Exoc3l UTSW 8 106,020,340 (GRCm39) missense probably damaging 1.00
R7387:Exoc3l UTSW 8 106,021,605 (GRCm39) missense probably damaging 1.00
R7442:Exoc3l UTSW 8 106,019,558 (GRCm39) missense probably damaging 1.00
R7764:Exoc3l UTSW 8 106,017,333 (GRCm39) missense possibly damaging 0.62
R7845:Exoc3l UTSW 8 106,016,782 (GRCm39) missense probably damaging 1.00
R8748:Exoc3l UTSW 8 106,016,777 (GRCm39) missense probably damaging 0.98
R8879:Exoc3l UTSW 8 106,017,181 (GRCm39) missense
Z1176:Exoc3l UTSW 8 106,017,426 (GRCm39) missense possibly damaging 0.74
Predicted Primers PCR Primer
(F):5'- CTAGTCACCTGAACCTGAGC -3'
(R):5'- AGACTGAGCGCACAATCCTG -3'

Sequencing Primer
(F):5'- TGAACCTGAGCCACAAAGG -3'
(R):5'- ATGTCTTCGGGCGCTACAG -3'
Posted On 2018-06-06