Incidental Mutation 'R5518:Exoc3l'
ID 431407
Institutional Source Beutler Lab
Gene Symbol Exoc3l
Ensembl Gene ENSMUSG00000043251
Gene Name exocyst complex component 3-like
Synonyms C730015A04Rik
MMRRC Submission 043077-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.248) question?
Stock # R5518 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 106016556-106022733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106019795 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 353 (N353D)
Ref Sequence ENSEMBL: ENSMUSP00000053766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014981] [ENSMUST00000015003] [ENSMUST00000057855] [ENSMUST00000171788] [ENSMUST00000212777] [ENSMUST00000212219] [ENSMUST00000212922]
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: N353D

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000053766
Gene: ENSMUSG00000043251
AA Change: N353D

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: ENSMUST00000212261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212529
Predicted Effect probably benign
Transcript: ENSMUST00000212777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212215
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212288
Predicted Effect probably benign
Transcript: ENSMUST00000212219
Predicted Effect probably benign
Transcript: ENSMUST00000212922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212232
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212359
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.4%
  • 10x: 94.2%
  • 20x: 86.3%
Validation Efficiency 100% (75/75)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc8 C T 7: 45,769,873 (GRCm39) E881K probably benign Het
Abcf1 C T 17: 36,269,233 (GRCm39) R675K possibly damaging Het
Abl1 T A 2: 31,680,754 (GRCm39) C349S probably damaging Het
Acot11 C A 4: 106,607,207 (GRCm39) V459L probably benign Het
Ank2 A T 3: 126,753,348 (GRCm39) V311D probably damaging Het
Ankrd11 C G 8: 123,617,733 (GRCm39) E2040Q possibly damaging Het
Ankrd26 T C 6: 118,525,869 (GRCm39) I359V probably benign Het
Armc3 T G 2: 19,302,739 (GRCm39) L684V probably benign Het
Asb10 G A 5: 24,744,643 (GRCm39) P184S probably damaging Het
Atp10b T C 11: 43,042,463 (GRCm39) S8P possibly damaging Het
Blk G T 14: 63,615,956 (GRCm39) S324R possibly damaging Het
C4b G C 17: 34,953,416 (GRCm39) N1022K probably benign Het
Card6 G T 15: 5,134,696 (GRCm39) T169K probably damaging Het
Catsper2 T C 2: 121,236,844 (GRCm39) T268A possibly damaging Het
Cbx3 C T 6: 51,458,726 (GRCm39) P64S probably benign Het
Chchd6 A G 6: 89,544,567 (GRCm39) probably null Het
Cntn1 G A 15: 92,212,534 (GRCm39) E899K probably benign Het
Col6a4 A T 9: 105,949,387 (GRCm39) S749R possibly damaging Het
Cpne3 T G 4: 19,553,779 (GRCm39) N84T probably benign Het
Dcxr A C 11: 120,617,025 (GRCm39) probably benign Het
Dnhd1 G A 7: 105,352,416 (GRCm39) R2523Q probably damaging Het
Emsy T C 7: 98,242,818 (GRCm39) Q1107R possibly damaging Het
Erbb2 G T 11: 98,313,596 (GRCm39) C221F probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
G3bp2 T A 5: 92,216,347 (GRCm39) H63L probably benign Het
Galnt17 A G 5: 130,929,428 (GRCm39) Y460H probably damaging Het
Gm6003 T A 7: 32,865,004 (GRCm39) noncoding transcript Het
Ighv5-12-4 A G 12: 113,726,154 (GRCm39) L23P probably damaging Het
Ins1 T C 19: 52,253,177 (GRCm39) L39P probably damaging Het
Itpr3 T G 17: 27,306,566 (GRCm39) V210G probably damaging Het
Klrb1 T A 6: 128,683,488 (GRCm39) T210S probably benign Het
Krtap24-1 A T 16: 88,408,596 (GRCm39) F177I probably damaging Het
Lrrc37 A T 11: 103,506,079 (GRCm39) I1963K probably benign Het
Mcat A G 15: 83,431,875 (GRCm39) probably null Het
Mknk2 A T 10: 80,504,475 (GRCm39) C229S possibly damaging Het
Mta2 C A 19: 8,925,456 (GRCm39) Q362K probably benign Het
Ndst4 T C 3: 125,232,105 (GRCm39) Y225H probably benign Het
Or4d11 T C 19: 12,013,429 (GRCm39) R226G probably damaging Het
Pcdha1 A G 18: 37,065,415 (GRCm39) D693G probably benign Het
Pik3r5 G A 11: 68,368,294 (GRCm39) D100N possibly damaging Het
Pld3 T C 7: 27,231,796 (GRCm39) D465G probably damaging Het
Prkdc T C 16: 15,496,172 (GRCm39) Y788H probably damaging Het
Ptprt T A 2: 162,120,143 (GRCm39) D108V probably damaging Het
Rasgrp3 T A 17: 75,823,354 (GRCm39) M475K probably benign Het
Rbak A G 5: 143,159,064 (GRCm39) L663P probably damaging Het
Rnf17 A G 14: 56,719,590 (GRCm39) N947D probably damaging Het
Ryr2 T C 13: 11,702,795 (GRCm39) S2898G probably benign Het
Serpina1e A C 12: 103,917,087 (GRCm39) L194R probably damaging Het
Smg6 T C 11: 74,944,724 (GRCm39) S158P probably damaging Het
Smtnl2 A T 11: 72,292,342 (GRCm39) V269E possibly damaging Het
Snx14 G T 9: 88,265,855 (GRCm39) P760Q probably damaging Het
Sorl1 T C 9: 41,948,508 (GRCm39) E759G possibly damaging Het
Sspo C T 6: 48,473,588 (GRCm39) T4906M possibly damaging Het
Syne2 T A 12: 75,991,944 (GRCm39) F1970I possibly damaging Het
Tekt3 C A 11: 62,974,768 (GRCm39) H362Q probably benign Het
Tmem121 T C 12: 113,152,547 (GRCm39) V255A possibly damaging Het
Tmem201 T C 4: 149,802,534 (GRCm39) T614A probably benign Het
Tnc T C 4: 63,935,916 (GRCm39) D340G probably damaging Het
Ttc28 A T 5: 111,373,794 (GRCm39) T1046S probably benign Het
Ubxn2a T C 12: 4,952,238 (GRCm39) D8G probably benign Het
Vwde T C 6: 13,186,937 (GRCm39) N850S probably benign Het
Zfp280d A G 9: 72,231,417 (GRCm39) H451R probably damaging Het
Zfp462 T C 4: 55,009,818 (GRCm39) C595R probably damaging Het
Zfp768 A G 7: 126,943,583 (GRCm39) S182P probably benign 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
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
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'- ACTGAGCCACACTTACCTGG -3'
(R):5'- AGACTGAGCGCACAATCCTG -3'

Sequencing Primer
(F):5'- ACACTTACCTGGCAAGAAAGAG -3'
(R):5'- ATGTCTTCGGGCGCTACAG -3'
Posted On 2016-10-05