Incidental Mutation 'IGL01024:Elp5'
ID53900
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: 0.915) question?
Stock #IGL01024
Quality Score
Status
Chromosome11
Chromosomal Location69968222-69982517 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 69968422 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000137627 (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 benign
Transcript: ENSMUST00000108594
SMART Domains Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810055G02Rik T C 19: 3,717,040 V209A probably benign Het
Abca6 T A 11: 110,197,142 Y1053F probably benign Het
Acot12 C T 13: 91,781,211 Q386* probably null Het
Adamts16 A G 13: 70,795,484 V336A probably benign Het
Ankrd49 A G 9: 14,782,803 F23L probably damaging Het
Aspm A T 1: 139,478,124 H1583L possibly damaging Het
Atp6v0a1 A G 11: 101,048,439 I677V probably benign Het
BC005561 T G 5: 104,521,746 V1378G probably benign Het
Brinp1 A T 4: 68,762,494 W600R probably damaging Het
C87977 A T 4: 144,208,475 I232K possibly damaging Het
Ccdc185 T C 1: 182,747,423 E567G possibly damaging Het
Clip2 T C 5: 134,510,212 D445G probably damaging Het
Gm9376 A G 14: 118,267,158 M1V probably null Het
Gtf2a1l A G 17: 88,671,291 K40R probably damaging Het
Hdc A G 2: 126,603,846 V246A probably benign Het
Hectd2 T A 19: 36,606,393 F479L probably damaging Het
Hipk1 G T 3: 103,760,636 N538K probably benign Het
Kif27 T A 13: 58,288,201 E1259D possibly damaging Het
Klhdc2 T A 12: 69,305,836 N256K probably benign Het
Krt71 C T 15: 101,736,674 A401T probably damaging Het
Mapk3 A T 7: 126,764,774 K312* probably null Het
Med12l G T 3: 59,073,341 S365I probably damaging Het
Mgam A G 6: 40,643,010 K11R probably benign Het
Nox3 A T 17: 3,683,015 I187N probably damaging Het
Nudcd1 T A 15: 44,420,826 M55L probably benign Het
Olfr1312 A T 2: 112,042,371 F220L probably benign Het
Olfr43 A T 11: 74,206,655 L187Q probably damaging Het
Olfr983 A G 9: 40,092,733 S78P probably damaging Het
Pard6g T C 18: 80,079,822 probably benign Het
Pbrm1 G A 14: 31,052,260 R461H probably damaging Het
Ppm1f C A 16: 16,923,769 T369K probably benign Het
Ppp1r16b C T 2: 158,740,816 probably benign Het
Prom2 T C 2: 127,541,139 N61S probably benign Het
Psmc2 T C 5: 21,801,198 probably benign Het
Psme2 A G 14: 55,588,436 probably benign Het
Ptprc T C 1: 138,080,912 H655R probably damaging Het
Pxdn A C 12: 29,987,099 N292T probably damaging Het
Rapgef2 T C 3: 79,070,138 I1301V probably benign Het
Rnase11 T C 14: 51,049,864 I78V probably benign Het
Rpl41 A G 10: 128,548,377 probably benign Het
Sgf29 G A 7: 126,664,931 R56Q possibly damaging Het
Sis A G 3: 72,911,876 L1449S probably damaging Het
Slc34a2 T A 5: 53,067,630 V371D possibly damaging Het
Son C A 16: 91,655,910 T515K probably damaging Het
Tbx15 A T 3: 99,316,246 D250V probably damaging Het
Tmem171 T A 13: 98,686,518 probably null Het
Ugt2b36 C T 5: 87,080,869 probably null Het
Vill G A 9: 119,070,350 probably null Het
Vmn2r22 A G 6: 123,638,053 F193L probably damaging Het
Vmn2r95 C T 17: 18,452,328 probably benign Het
Vstm2a T A 11: 16,281,874 V223D possibly damaging Het
Other mutations in Elp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Elp5 APN 11 69968470 unclassified probably benign
IGL01405:Elp5 APN 11 69969136 missense probably damaging 0.97
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 On2013-06-28