Incidental Mutation 'R6631:Exoc3l'
ID 525132
Institutional Source Beutler Lab
Gene Symbol Exoc3l
Ensembl Gene ENSMUSG00000043251
Gene Name exocyst complex component 3-like
Synonyms C730015A04Rik
MMRRC Submission 044753-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R6631 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 106016556-106022733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106021993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 37 (W37R)
Ref Sequence ENSEMBL: ENSMUSP00000053766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015003] [ENSMUST00000057855] [ENSMUST00000212777]
AlphaFold Q8BI71
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 damaging
Transcript: ENSMUST00000057855
AA Change: W37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: W37R

DomainStartEndE-ValueType
Pfam:Sec6 189 722 5.4e-116 PFAM
low complexity region 723 739 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212037
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212232
Predicted Effect probably benign
Transcript: ENSMUST00000212777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212359
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212288
Meta Mutation Damage Score 0.3227 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.9%
Validation Efficiency 96% (50/52)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406C07Rik A T 9: 15,203,326 (GRCm39) N159K probably damaging Het
Arhgef10l T C 4: 140,245,058 (GRCm39) probably benign Het
Atosa A G 9: 74,861,107 (GRCm39) D4G possibly damaging Het
Avil A G 10: 126,843,618 (GRCm39) S153G possibly damaging Het
C2cd3 G A 7: 100,067,747 (GRCm39) D877N probably damaging Het
Clca3a2 G A 3: 144,519,405 (GRCm39) A257V probably benign Het
Cramp1 T A 17: 25,202,931 (GRCm39) H366L probably benign Het
Cyp2c37 C T 19: 39,998,287 (GRCm39) S393L probably damaging Het
Defb8 T A 8: 19,495,950 (GRCm39) I37L probably benign Het
Dennd4b C A 3: 90,185,039 (GRCm39) probably null Het
Eps8l2 G A 7: 140,936,115 (GRCm39) R223H probably damaging Het
Erbin A G 13: 103,961,400 (GRCm39) L1302P probably benign Het
Fap T C 2: 62,333,725 (GRCm39) N668S probably damaging Het
Gas7 A G 11: 67,565,107 (GRCm39) N250S probably damaging Het
H2bc12 T A 13: 22,220,391 (GRCm39) V112E probably damaging Het
Hivep1 C A 13: 42,309,956 (GRCm39) P732Q probably damaging Het
Irx4 G T 13: 73,416,545 (GRCm39) A314S probably benign Het
Itgb8 A T 12: 119,144,712 (GRCm39) L332* probably null Het
Kctd19 A G 8: 106,111,960 (GRCm39) probably null Het
Kif14 G A 1: 136,443,697 (GRCm39) S1290N probably benign Het
Klk1b3 C T 7: 43,850,888 (GRCm39) T140I probably benign Het
Lama1 A G 17: 68,081,477 (GRCm39) N1305D probably benign Het
Lrp1 A T 10: 127,410,201 (GRCm39) V1515E probably damaging Het
Man2b1 A G 8: 85,813,440 (GRCm39) probably null Het
Mocos A G 18: 24,832,988 (GRCm39) T818A probably benign Het
Mpc2 G T 1: 165,307,081 (GRCm39) W94L probably benign Het
Mrc1 G A 2: 14,243,296 (GRCm39) V141I probably benign Het
Nalcn T C 14: 123,697,663 (GRCm39) T538A probably benign Het
Ndufs3 G A 2: 90,732,744 (GRCm39) T114M probably damaging Het
Noct T C 3: 51,157,621 (GRCm39) C320R probably damaging Het
Or5b117 T A 19: 13,431,185 (GRCm39) Q232L probably benign Het
Pcdha11 G T 18: 37,138,844 (GRCm39) A158S probably damaging Het
Pcdhga8 T A 18: 37,860,109 (GRCm39) D388E probably benign Het
Peg3 T C 7: 6,712,069 (GRCm39) E1051G possibly damaging Het
Phlda2 T A 7: 143,055,918 (GRCm39) I104F probably damaging Het
Polr2a A G 11: 69,626,339 (GRCm39) S1604P possibly damaging Het
Pomt2 C T 12: 87,186,417 (GRCm39) probably null Het
Ppp6r2 G A 15: 89,137,458 (GRCm39) probably null Het
Prdm2 T G 4: 142,861,454 (GRCm39) Q612P probably benign Het
Prr5 C A 15: 84,586,978 (GRCm39) R243S probably damaging Het
Ptgdr2 T C 19: 10,918,233 (GRCm39) I250T probably benign Het
Rad54l2 A T 9: 106,590,739 (GRCm39) C462* probably null Het
Sec16a T A 2: 26,329,969 (GRCm39) E682V probably damaging Het
Serpina3i A G 12: 104,232,725 (GRCm39) D210G probably damaging Het
Slain2 T A 5: 73,114,748 (GRCm39) D326E probably benign Het
Sned1 A G 1: 93,209,374 (GRCm39) E829G probably damaging Het
Steap4 G A 5: 8,026,995 (GRCm39) W319* probably null Het
Taar8c A G 10: 23,977,701 (GRCm39) V37A probably benign Het
Tdrd12 T A 7: 35,184,654 (GRCm39) Y753F probably damaging Het
Tnxb A G 17: 34,937,222 (GRCm39) S3770G probably damaging Het
Trrap A G 5: 144,708,460 (GRCm39) N48S possibly damaging Het
Zfp558 C A 9: 18,368,219 (GRCm39) G190* probably null 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
R6511:Exoc3l UTSW 8 106,019,887 (GRCm39) missense probably benign 0.00
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'- TTCACGAGTTCCCTGCACAG -3'
(R):5'- CTATAGGATTGCCAAGAGTGGG -3'

Sequencing Primer
(F):5'- TAGGACTGCACCACTGACTGTG -3'
(R):5'- GGCTGTCCCGAGGAAACAG -3'
Posted On 2018-06-22