Incidental Mutation 'R4964:Exoc3l4'
ID 383823
Institutional Source Beutler Lab
Gene Symbol Exoc3l4
Ensembl Gene ENSMUSG00000021280
Gene Name exocyst complex component 3-like 4
Synonyms 1600013K19Rik, 1200009I06Rik
MMRRC Submission 042561-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # R4964 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 111383864-111398114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 111395155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 591 (H591R)
Ref Sequence ENSEMBL: ENSMUSP00000152337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072646] [ENSMUST00000222897] [ENSMUST00000223050]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000072646
AA Change: H591R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280
AA Change: H591R

DomainStartEndE-ValueType
low complexity region 75 89 N/A INTRINSIC
Pfam:Sec6 181 708 7.1e-111 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181085
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222262
Predicted Effect probably benign
Transcript: ENSMUST00000222897
AA Change: H591R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000223050
AA Change: H591R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223369
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency 98% (100/102)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,610,757 (GRCm39) probably benign Het
9030619P08Rik T A 15: 75,303,267 (GRCm39) noncoding transcript Het
A430033K04Rik G T 5: 138,645,119 (GRCm39) E335* probably null Het
Abcb1b A T 5: 8,862,671 (GRCm39) T118S probably benign Het
Abcb1b T A 5: 8,911,602 (GRCm39) I133N probably damaging Het
Acox3 A G 5: 35,747,080 (GRCm39) N166D probably damaging Het
Adam5 T C 8: 25,276,248 (GRCm39) Y473C probably damaging Het
Ankmy2 A G 12: 36,236,917 (GRCm39) K242E possibly damaging Het
Apc2 A C 10: 80,149,841 (GRCm39) I1603L probably benign Het
Arhgef25 T A 10: 127,021,472 (GRCm39) I249F probably damaging Het
Birc2 T C 9: 7,860,553 (GRCm39) H255R probably benign Het
Cables1 A T 18: 12,074,334 (GRCm39) R486W possibly damaging Het
Caskin1 A T 17: 24,726,135 (GRCm39) D1414V probably damaging Het
Ccdc175 A G 12: 72,227,619 (GRCm39) S55P probably damaging Het
Ccdc57 A T 11: 120,751,978 (GRCm39) S868T probably benign Het
Ccny A T 18: 9,449,516 (GRCm39) probably null Het
Cdc34b A T 11: 94,633,087 (GRCm39) I96F probably damaging Het
Ctnnd1 A G 2: 84,452,417 (GRCm39) F69L possibly damaging Het
Cul9 C T 17: 46,849,451 (GRCm39) D565N probably damaging Het
Cxcl16 A G 11: 70,346,519 (GRCm39) V208A probably benign Het
Cyb5rl A G 4: 106,926,329 (GRCm39) probably benign Het
Ddx18 T C 1: 121,493,823 (GRCm39) K54E probably benign Het
Ddx60 G A 8: 62,432,372 (GRCm39) V885I probably damaging Het
Dlg1 C T 16: 31,573,626 (GRCm39) T9I probably benign Het
Dnase1 T C 16: 3,855,771 (GRCm39) probably benign Het
Drd4 T C 7: 140,873,690 (GRCm39) M114T probably damaging Het
Egfr A T 11: 16,858,949 (GRCm39) D976V probably damaging Het
Eif2s1 T A 12: 78,926,785 (GRCm39) N178K probably benign Het
Galntl6 T C 8: 59,152,945 (GRCm39) probably benign Het
Glipr1l2 T A 10: 111,942,904 (GRCm39) I253K possibly damaging Het
Gnat1 A T 9: 107,554,433 (GRCm39) M115K probably benign Het
Gtsf2 T C 15: 103,352,755 (GRCm39) E88G possibly damaging Het
Hormad1 T A 3: 95,492,531 (GRCm39) probably null Het
Hydin A T 8: 111,217,305 (GRCm39) I1398F possibly damaging Het
Ifnar1 T C 16: 91,301,974 (GRCm39) V483A probably benign Het
Ints11 T C 4: 155,971,385 (GRCm39) F278L probably damaging Het
Ints6 A G 14: 62,939,911 (GRCm39) L593P probably damaging Het
Krt7 C T 15: 101,311,853 (GRCm39) R104C probably damaging Het
Map4k1 A T 7: 28,682,427 (GRCm39) H16L probably benign Het
Mef2d T A 3: 88,075,404 (GRCm39) I422N probably damaging Het
Mipep G T 14: 61,022,231 (GRCm39) R32L probably damaging Het
Mon1a A G 9: 107,779,850 (GRCm39) E473G probably damaging Het
Mterf2 T A 10: 84,955,979 (GRCm39) Q215L probably damaging Het
Mybpc1 T A 10: 88,391,525 (GRCm39) Y324F probably benign Het
Myh11 T C 16: 14,023,818 (GRCm39) E1512G probably damaging Het
Myo1g A T 11: 6,465,976 (GRCm39) F370I probably damaging Het
Myo5c T A 9: 75,204,791 (GRCm39) M1548K possibly damaging Het
Myof T A 19: 37,924,300 (GRCm39) I1306F probably damaging Het
Nle1 A G 11: 82,799,018 (GRCm39) F21S probably damaging Het
Noc2l C G 4: 156,330,368 (GRCm39) D513E probably damaging Het
Or1e17 A T 11: 73,832,028 (GRCm39) I319F probably benign Het
Or2z2 A G 11: 58,346,733 (GRCm39) V14A probably benign Het
Orc1 T C 4: 108,471,670 (GRCm39) *841R probably null Het
Patz1 A G 11: 3,257,720 (GRCm39) D573G probably damaging Het
Pcdhga3 A G 18: 37,809,154 (GRCm39) T536A probably benign Het
Pde6h C T 6: 136,938,201 (GRCm39) T58I possibly damaging Het
Pip5k1a T C 3: 94,978,094 (GRCm39) I275V probably benign Het
Pkd1 T C 17: 24,805,042 (GRCm39) probably null Het
Polr1e G A 4: 45,029,429 (GRCm39) A297T probably damaging Het
Polrmt A G 10: 79,582,385 (GRCm39) M1T probably null Het
Rbm34 T C 8: 127,678,087 (GRCm39) D269G possibly damaging Het
Rnf122 T A 8: 31,602,177 (GRCm39) M1K probably null Het
Rnf32 G A 5: 29,403,576 (GRCm39) R7H probably benign Het
Ryr2 T C 13: 11,729,497 (GRCm39) E2375G possibly damaging Het
Ryr2 T C 13: 11,848,878 (GRCm39) T361A probably benign Het
Serpina3m T C 12: 104,355,360 (GRCm39) I9T probably benign Het
Serpinb9 T A 13: 33,192,847 (GRCm39) W135R probably damaging Het
Sf3b1 T C 1: 55,038,871 (GRCm39) N804S probably benign Het
Shroom1 A G 11: 53,355,999 (GRCm39) T350A probably benign Het
Slc24a5 G A 2: 124,910,188 (GRCm39) V30I probably benign Het
Slc38a8 A T 8: 120,209,423 (GRCm39) probably null Het
Smarcd1 A G 15: 99,605,862 (GRCm39) S378G possibly damaging Het
Stx1b T C 7: 127,407,093 (GRCm39) I55V probably damaging Het
Sult2a8 A G 7: 14,159,457 (GRCm39) V54A probably damaging Het
Tacc2 T C 7: 130,330,507 (GRCm39) S264P probably damaging Het
Tbc1d4 A T 14: 101,695,610 (GRCm39) Y943N probably damaging Het
Tlr5 T C 1: 182,801,038 (GRCm39) I114T probably benign Het
Tmco6 T C 18: 36,868,555 (GRCm39) probably null Het
Treh T C 9: 44,593,945 (GRCm39) L144P probably damaging Het
Trmt2a T A 16: 18,067,418 (GRCm39) C30* probably null Het
Ttbk2 A T 2: 120,603,758 (GRCm39) F258L possibly damaging Het
Ttn T C 2: 76,785,380 (GRCm39) D665G probably damaging Het
Unc93b1 T C 19: 3,992,023 (GRCm39) probably null Het
Uroc1 T C 6: 90,322,376 (GRCm39) L300P probably damaging Het
Vps35l T C 7: 118,379,491 (GRCm39) I426T possibly damaging Het
Xbp1 A G 11: 5,471,125 (GRCm39) E44G probably damaging Het
Zfp451 A T 1: 33,816,942 (GRCm39) V119D probably damaging Het
Zfp457 T A 13: 67,441,342 (GRCm39) H315L probably damaging Het
Zfp518a T A 19: 40,904,295 (GRCm39) V1408D possibly damaging Het
Zfp52 T G 17: 21,780,665 (GRCm39) L171R probably benign Het
Zfp712 C T 13: 67,188,676 (GRCm39) C617Y probably damaging Het
Zfp770 T C 2: 114,027,868 (GRCm39) N67S probably benign Het
Other mutations in Exoc3l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Exoc3l4 APN 12 111,395,845 (GRCm39) splice site probably benign
IGL02048:Exoc3l4 APN 12 111,394,917 (GRCm39) missense probably benign 0.00
IGL03049:Exoc3l4 APN 12 111,389,835 (GRCm39) missense probably damaging 0.96
IGL03069:Exoc3l4 APN 12 111,390,457 (GRCm39) missense probably damaging 1.00
IGL03123:Exoc3l4 APN 12 111,388,547 (GRCm39) missense probably damaging 1.00
R0631:Exoc3l4 UTSW 12 111,394,400 (GRCm39) missense probably benign 0.34
R1377:Exoc3l4 UTSW 12 111,395,104 (GRCm39) missense probably damaging 1.00
R2223:Exoc3l4 UTSW 12 111,392,586 (GRCm39) missense possibly damaging 0.73
R2402:Exoc3l4 UTSW 12 111,388,690 (GRCm39) missense possibly damaging 0.94
R2884:Exoc3l4 UTSW 12 111,394,956 (GRCm39) missense possibly damaging 0.93
R3770:Exoc3l4 UTSW 12 111,391,989 (GRCm39) missense probably benign
R4843:Exoc3l4 UTSW 12 111,394,487 (GRCm39) intron probably benign
R4903:Exoc3l4 UTSW 12 111,395,155 (GRCm39) missense probably benign 0.00
R4966:Exoc3l4 UTSW 12 111,395,155 (GRCm39) missense probably benign 0.00
R5082:Exoc3l4 UTSW 12 111,394,424 (GRCm39) missense probably benign 0.04
R5152:Exoc3l4 UTSW 12 111,397,327 (GRCm39) utr 3 prime probably benign
R5210:Exoc3l4 UTSW 12 111,395,275 (GRCm39) intron probably benign
R5667:Exoc3l4 UTSW 12 111,389,851 (GRCm39) missense probably damaging 1.00
R5671:Exoc3l4 UTSW 12 111,389,851 (GRCm39) missense probably damaging 1.00
R5712:Exoc3l4 UTSW 12 111,390,476 (GRCm39) nonsense probably null
R5873:Exoc3l4 UTSW 12 111,389,850 (GRCm39) missense probably damaging 1.00
R5947:Exoc3l4 UTSW 12 111,388,835 (GRCm39) missense possibly damaging 0.94
R6299:Exoc3l4 UTSW 12 111,388,513 (GRCm39) start codon destroyed possibly damaging 0.59
R6332:Exoc3l4 UTSW 12 111,394,402 (GRCm39) missense possibly damaging 0.79
R6489:Exoc3l4 UTSW 12 111,395,131 (GRCm39) missense probably damaging 1.00
R7225:Exoc3l4 UTSW 12 111,390,058 (GRCm39) missense probably benign 0.10
R7643:Exoc3l4 UTSW 12 111,388,369 (GRCm39) intron probably benign
R7731:Exoc3l4 UTSW 12 111,397,182 (GRCm39) missense possibly damaging 0.94
R7791:Exoc3l4 UTSW 12 111,389,974 (GRCm39) missense probably damaging 1.00
R8723:Exoc3l4 UTSW 12 111,397,092 (GRCm39) splice site probably benign
R8942:Exoc3l4 UTSW 12 111,392,003 (GRCm39) missense probably benign 0.17
R8942:Exoc3l4 UTSW 12 111,392,002 (GRCm39) missense possibly damaging 0.53
R9145:Exoc3l4 UTSW 12 111,388,586 (GRCm39) missense probably benign
R9334:Exoc3l4 UTSW 12 111,397,117 (GRCm39) missense probably damaging 0.99
Z1088:Exoc3l4 UTSW 12 111,395,921 (GRCm39) missense probably benign 0.29
Z1176:Exoc3l4 UTSW 12 111,390,154 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCATCTTGAGCATGTGACCC -3'
(R):5'- CGCCTAGTGGAAGCTCTTTTC -3'

Sequencing Primer
(F):5'- ATGTGACCCCACCACTGG -3'
(R):5'- GGCTCTTTACAGGATGAAAACAAC -3'
Posted On 2016-04-27