Incidental Mutation 'IGL01405:Elp5'
ID79772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elp5
Ensembl Gene ENSMUSG00000018565
Gene Nameelongator acetyltransferase complex subunit 5
SynonymsRai12, Clone 13u
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.928) question?
Stock #IGL01405
Quality Score
Status
Chromosome11
Chromosomal Location69968222-69982517 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 69969136 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 250 (R250G)
Ref Sequence ENSEMBL: ENSMUSP00000104235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018713] [ENSMUST00000060651] [ENSMUST00000108594] [ENSMUST00000108595] [ENSMUST00000108596] [ENSMUST00000108597] [ENSMUST00000142788] [ENSMUST00000151515]
Predicted Effect probably benign
Transcript: ENSMUST00000018713
SMART Domains Protein: ENSMUSP00000018713
Gene: ENSMUSG00000018569

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.3e-53 PFAM
Pfam:Claudin_2 15 184 1.4e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000060651
SMART Domains Protein: ENSMUSP00000090725
Gene: ENSMUSG00000018569

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 83 3.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000108594
AA Change: R250G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565
AA Change: R250G

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 201 1.1e-12 PFAM
Pfam:Elong_Iki1 205 282 3.8e-10 PFAM
low complexity region 283 299 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108595
SMART Domains Protein: ENSMUSP00000104236
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 139 9.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108596
SMART Domains Protein: ENSMUSP00000104237
Gene: ENSMUSG00000018569

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 99 1.1e-29 PFAM
Pfam:Claudin_2 1 101 1.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108597
SMART Domains Protein: ENSMUSP00000104238
Gene: ENSMUSG00000018569

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 182 2.5e-53 PFAM
Pfam:Claudin_2 15 184 1.1e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123701
Predicted Effect probably benign
Transcript: ENSMUST00000127437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138562
Predicted Effect probably benign
Transcript: ENSMUST00000142788
SMART Domains Protein: ENSMUSP00000136063
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 63 1.2e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143788
Predicted Effect probably benign
Transcript: ENSMUST00000151515
SMART Domains Protein: ENSMUSP00000137627
Gene: ENSMUSG00000018569

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 1 99 5.7e-30 PFAM
Pfam:Claudin_2 1 101 7.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151766
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf1 G A 17: 35,964,010 R82W probably damaging Het
Atxn7 T C 14: 14,100,105 V597A probably benign Het
Bsg T A 10: 79,711,514 M205K probably benign Het
Ccdc18 T C 5: 108,202,186 probably benign Het
Cdh1 T C 8: 106,649,001 V57A probably damaging Het
Ddost A G 4: 138,311,703 D378G probably damaging Het
Depdc5 A G 5: 32,937,689 E779G possibly damaging Het
Gnb1 A G 4: 155,543,188 H142R probably damaging Het
Ift172 G T 5: 31,261,852 Y1148* probably null Het
Kif5a T C 10: 127,245,990 N153S probably damaging Het
Malrd1 G A 2: 16,101,957 probably null Het
Man2a2 T A 7: 80,360,934 M770L probably benign Het
Msh2 T C 17: 87,678,235 L80P probably damaging Het
Naip5 A T 13: 100,221,945 S928T probably benign Het
Olfr855 T A 9: 19,585,205 S223T probably benign Het
Pla2g4d T C 2: 120,266,823 N765S probably benign Het
Plcb4 C T 2: 135,950,347 T330I probably damaging Het
Ppp3ca A G 3: 136,868,721 I127V probably benign Het
Rapgef5 C A 12: 117,721,380 T320K probably benign Het
Rbfa A G 18: 80,192,865 V223A probably benign Het
Rfx7 A G 9: 72,610,344 M187V probably benign Het
Ric1 T C 19: 29,567,370 probably benign Het
Slc22a16 C T 10: 40,585,195 T331M probably benign Het
Slc34a1 T C 13: 55,412,128 S303P probably damaging Het
Slfn3 T C 11: 83,214,716 V513A possibly damaging Het
Tbce A T 13: 14,003,695 I370N probably damaging Het
Zfp358 G A 8: 3,495,663 D109N probably benign Het
Zfp523 T C 17: 28,204,506 S152P probably damaging Het
Zfp961 A G 8: 71,967,934 N78S possibly damaging Het
Other mutations in Elp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Elp5 APN 11 69968422 unclassified probably benign
IGL01295:Elp5 APN 11 69968470 unclassified probably benign
PIT1430001:Elp5 UTSW 11 69967109 critical splice donor site probably null
R0367:Elp5 UTSW 11 69975141 missense probably benign 0.01
R1376:Elp5 UTSW 11 69975090 missense probably benign 0.00
R1376:Elp5 UTSW 11 69975090 missense probably benign 0.00
R2392:Elp5 UTSW 11 69975102 missense probably benign 0.01
R4175:Elp5 UTSW 11 69970562 missense probably null 0.90
R4176:Elp5 UTSW 11 69970562 missense probably null 0.90
R4650:Elp5 UTSW 11 69969572 missense possibly damaging 0.69
R4988:Elp5 UTSW 11 69979842 missense probably benign 0.03
R7695:Elp5 UTSW 11 69969501 missense probably benign 0.10
R7878:Elp5 UTSW 11 69970599 missense probably damaging 0.98
R7961:Elp5 UTSW 11 69970599 missense probably damaging 0.98
X0024:Elp5 UTSW 11 69970599 missense probably benign 0.05
Posted On2013-11-05