Incidental Mutation 'IGL03069:Exoc3l4'
ID409830
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Exoc3l4
Ensembl Gene ENSMUSG00000021280
Gene Nameexocyst complex component 3-like 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL03069
Quality Score
Status
Chromosome12
Chromosomal Location111417017-111431678 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 111424023 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 344 (D344G)
Ref Sequence ENSEMBL: ENSMUSP00000152337 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072646] [ENSMUST00000220537] [ENSMUST00000220852] [ENSMUST00000221144] [ENSMUST00000222437] [ENSMUST00000222897] [ENSMUST00000223050] [ENSMUST00000223431]
Predicted Effect probably damaging
Transcript: ENSMUST00000072646
AA Change: D344G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072438
Gene: ENSMUSG00000021280
AA Change: D344G

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 probably benign
Transcript: ENSMUST00000220537
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220636
Predicted Effect probably benign
Transcript: ENSMUST00000220852
Predicted Effect probably benign
Transcript: ENSMUST00000221144
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222262
Predicted Effect probably benign
Transcript: ENSMUST00000222437
Predicted Effect probably damaging
Transcript: ENSMUST00000222897
AA Change: D344G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000223050
AA Change: D344G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000223431
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029H14Rik T G 8: 13,557,704 probably null Het
Acpp T C 9: 104,320,005 E145G possibly damaging Het
Ankrd28 T A 14: 31,755,786 K42* probably null Het
Arsg A T 11: 109,563,256 K429N probably damaging Het
Bsn G A 9: 108,114,263 T1430I probably damaging Het
Calu A G 6: 29,356,583 D36G possibly damaging Het
Ccdc18 T C 5: 108,228,901 S1403P probably damaging Het
Cdca2 A G 14: 67,714,936 probably benign Het
Cfh C A 1: 140,099,055 probably benign Het
Cyp2c69 C T 19: 39,881,093 G161S probably benign Het
Dennd4c C A 4: 86,774,437 Y61* probably null Het
Diaph3 A G 14: 86,772,119 S1075P probably damaging Het
Dpp7 T A 2: 25,355,723 probably null Het
Dtd1 T A 2: 144,747,061 probably benign Het
Dtl C A 1: 191,556,896 probably benign Het
Hsp90ab1 A T 17: 45,569,028 C159S possibly damaging Het
Kcnip2 T C 19: 45,796,271 probably benign Het
Krba1 A G 6: 48,414,549 T755A possibly damaging Het
L2hgdh C T 12: 69,692,399 V433I probably benign Het
Lamc1 A T 1: 153,239,381 L1050I probably damaging Het
Lgals4 A T 7: 28,840,918 I213L probably benign Het
Lysmd1 A G 3: 95,137,634 I64V probably damaging Het
Mfsd4b4 A C 10: 39,892,315 C261G probably benign Het
Mrgprb3 T A 7: 48,643,450 I118F possibly damaging Het
Mtmr2 T A 9: 13,793,205 Y137* probably null Het
Ofcc1 A T 13: 40,072,664 H797Q probably benign Het
Olfr1176 C T 2: 88,340,299 probably null Het
Olfr935 A T 9: 38,995,432 M1K probably null Het
Omd A T 13: 49,592,394 probably benign Het
Polr3a T A 14: 24,461,740 D916V probably damaging Het
Prpf38a T C 4: 108,575,431 Y117C probably damaging Het
Scn11a C T 9: 119,789,963 G771D probably benign Het
Smarca4 C T 9: 21,635,836 T219I probably benign Het
Snx1 T A 9: 66,094,624 I306F probably benign Het
Snx31 T A 15: 36,525,603 R317* probably null Het
Sorl1 T C 9: 41,991,426 T1612A probably benign Het
Spag1 G T 15: 36,224,099 probably benign Het
Sssca1 G T 19: 5,730,422 L183I possibly damaging Het
Stambp A G 6: 83,561,932 F162S probably damaging Het
Tkfc T A 19: 10,599,154 M122L probably benign Het
Tnni3k T A 3: 154,941,605 probably null Het
Trim56 T C 5: 137,113,762 Q300R probably damaging Het
Ttc24 T A 3: 88,070,101 T113S probably benign Het
Xirp2 A T 2: 67,509,532 T706S possibly damaging Het
Yipf5 T A 18: 40,206,237 probably benign Het
Zfp202 T C 9: 40,211,399 S486P probably damaging Het
Zfp407 A G 18: 84,350,975 S1676P probably damaging Het
Other mutations in Exoc3l4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01663:Exoc3l4 APN 12 111429411 splice site probably benign
IGL02048:Exoc3l4 APN 12 111428483 missense probably benign 0.00
IGL03049:Exoc3l4 APN 12 111423401 missense probably damaging 0.96
IGL03123:Exoc3l4 APN 12 111422113 missense probably damaging 1.00
R0631:Exoc3l4 UTSW 12 111427966 missense probably benign 0.34
R1377:Exoc3l4 UTSW 12 111428670 missense probably damaging 1.00
R2223:Exoc3l4 UTSW 12 111426152 missense possibly damaging 0.73
R2402:Exoc3l4 UTSW 12 111422256 missense possibly damaging 0.94
R2884:Exoc3l4 UTSW 12 111428522 missense possibly damaging 0.93
R3770:Exoc3l4 UTSW 12 111425555 missense probably benign
R4843:Exoc3l4 UTSW 12 111428053 intron probably benign
R4903:Exoc3l4 UTSW 12 111428721 missense probably benign 0.00
R4964:Exoc3l4 UTSW 12 111428721 missense probably benign 0.00
R4966:Exoc3l4 UTSW 12 111428721 missense probably benign 0.00
R5082:Exoc3l4 UTSW 12 111427990 missense probably benign 0.04
R5152:Exoc3l4 UTSW 12 111430893 utr 3 prime probably benign
R5210:Exoc3l4 UTSW 12 111428841 intron probably benign
R5667:Exoc3l4 UTSW 12 111423417 missense probably damaging 1.00
R5671:Exoc3l4 UTSW 12 111423417 missense probably damaging 1.00
R5712:Exoc3l4 UTSW 12 111424042 nonsense probably null
R5873:Exoc3l4 UTSW 12 111423416 missense probably damaging 1.00
R5947:Exoc3l4 UTSW 12 111422401 missense possibly damaging 0.94
R6299:Exoc3l4 UTSW 12 111422079 start codon destroyed possibly damaging 0.59
R6332:Exoc3l4 UTSW 12 111427968 missense possibly damaging 0.79
R6489:Exoc3l4 UTSW 12 111428697 missense probably damaging 1.00
R7225:Exoc3l4 UTSW 12 111423624 missense probably benign 0.10
R7643:Exoc3l4 UTSW 12 111421935 intron probably benign
R7731:Exoc3l4 UTSW 12 111430748 missense possibly damaging 0.94
R7791:Exoc3l4 UTSW 12 111423540 missense probably damaging 1.00
R8942:Exoc3l4 UTSW 12 111425568 missense possibly damaging 0.53
R8942:Exoc3l4 UTSW 12 111425569 missense probably benign 0.17
Z1088:Exoc3l4 UTSW 12 111429487 missense probably benign 0.29
Z1176:Exoc3l4 UTSW 12 111423720 missense probably damaging 1.00
Posted On2016-08-02