Incidental Mutation 'R4175:Elp5'
ID 318273
Institutional Source Beutler Lab
Gene Symbol Elp5
Ensembl Gene ENSMUSG00000018565
Gene Name elongator acetyltransferase complex subunit 5
Synonyms Rai12, Clone 13u
MMRRC Submission 041013-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.940) question?
Stock # R4175 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 69859050-69872352 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69861388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 197 (Q197R)
Ref Sequence ENSEMBL: ENSMUSP00000104235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018713] [ENSMUST00000060651] [ENSMUST00000108594] [ENSMUST00000108595] [ENSMUST00000108596] [ENSMUST00000108597] [ENSMUST00000142788] [ENSMUST00000147437] [ENSMUST00000151515]
AlphaFold Q99L85
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 null
Transcript: ENSMUST00000108594
AA Change: Q197R

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104235
Gene: ENSMUSG00000018565
AA Change: Q197R

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: ENSMUST00000138562
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123701
Predicted Effect probably benign
Transcript: ENSMUST00000127437
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: ENSMUST00000151766
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143788
Predicted Effect probably benign
Transcript: ENSMUST00000147437
SMART Domains Protein: ENSMUSP00000117394
Gene: ENSMUSG00000018565

DomainStartEndE-ValueType
Pfam:Elong_Iki1 1 115 1.7e-24 PFAM
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
Meta Mutation Damage Score 0.6256 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (46/48)
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd63 T C 2: 118,533,100 (GRCm39) M274V probably benign Het
Ano6 A T 15: 95,860,050 (GRCm39) D724V probably damaging Het
Apobec3 A G 15: 79,779,653 (GRCm39) N43S probably damaging Het
Arfgef1 T C 1: 10,229,861 (GRCm39) H1280R probably damaging Het
Cbfa2t3 C T 8: 123,370,057 (GRCm39) V139M probably damaging Het
Cd200r3 T A 16: 44,774,552 (GRCm39) D188E probably benign Het
Clmp A T 9: 40,682,432 (GRCm39) N72I probably benign Het
Col11a1 A C 3: 114,001,872 (GRCm39) D432A possibly damaging Het
Creb3l1 A G 2: 91,813,520 (GRCm39) F506L probably benign Het
Ctbp1 A G 5: 33,424,250 (GRCm39) S47P probably damaging Het
Dus1l G A 11: 120,686,506 (GRCm39) R12C possibly damaging Het
Epb41l4b A G 4: 57,076,556 (GRCm39) V326A probably damaging Het
Fhdc1 T C 3: 84,364,294 (GRCm39) probably benign Het
Gm27013 T A 6: 130,654,110 (GRCm39) T451S probably benign Het
Ifi208 A T 1: 173,510,267 (GRCm39) M141L probably benign Het
Inpp5e A G 2: 26,290,937 (GRCm39) S377P probably damaging Het
Kat2a A G 11: 100,596,092 (GRCm39) L822P probably damaging Het
Kcnip2 G C 19: 45,800,654 (GRCm39) T24S probably benign Het
Med17 A G 9: 15,178,765 (GRCm39) Y469H possibly damaging Het
Mindy3 C T 2: 12,410,676 (GRCm39) C77Y probably damaging Het
Mmp1a A G 9: 7,467,236 (GRCm39) T271A probably benign Het
Ncor2 A T 5: 125,128,020 (GRCm39) S118T probably damaging Het
Or5ak24 A T 2: 85,260,962 (GRCm39) D70E probably damaging Het
Osmr A T 15: 6,882,027 (GRCm39) V39D probably damaging Het
Pcdh15 G A 10: 74,467,829 (GRCm39) probably benign Het
Pclo A G 5: 14,763,889 (GRCm39) K836E probably damaging Het
Phaf1 T C 8: 105,967,763 (GRCm39) L218P probably benign Het
Pik3r1 A T 13: 101,838,240 (GRCm39) L272H probably damaging Het
Pik3r1 G A 13: 101,838,241 (GRCm39) L272F probably benign Het
Prrc2b G GCT 2: 32,108,820 (GRCm39) probably benign Het
Ptprq T G 10: 107,547,778 (GRCm39) I207L probably benign Het
Rasa2 G T 9: 96,442,830 (GRCm39) T531K probably benign Het
Six4 G A 12: 73,155,605 (GRCm39) T454I probably damaging Het
Slc26a6 G A 9: 108,731,416 (GRCm39) probably benign Het
Slc7a13 G A 4: 19,819,492 (GRCm39) G231R probably null Het
Slco3a1 T A 7: 73,968,302 (GRCm39) N473Y probably damaging Het
Tapt1 G A 5: 44,334,447 (GRCm39) L515F probably benign Het
Tmem145 T C 7: 25,008,218 (GRCm39) I253T probably benign Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Unc13a A G 8: 72,120,368 (GRCm39) probably benign Het
Usp24 T C 4: 106,173,970 (GRCm39) V101A probably benign Het
Zfp36l3 T C X: 52,777,840 (GRCm39) T125A possibly damaging Het
Other mutations in Elp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01024:Elp5 APN 11 69,859,248 (GRCm39) unclassified probably benign
IGL01295:Elp5 APN 11 69,859,296 (GRCm39) unclassified probably benign
IGL01405:Elp5 APN 11 69,859,962 (GRCm39) missense probably damaging 0.97
PIT1430001:Elp5 UTSW 11 69,857,935 (GRCm39) critical splice donor site probably null
R0367:Elp5 UTSW 11 69,865,967 (GRCm39) missense probably benign 0.01
R1376:Elp5 UTSW 11 69,865,916 (GRCm39) missense probably benign 0.00
R1376:Elp5 UTSW 11 69,865,916 (GRCm39) missense probably benign 0.00
R2392:Elp5 UTSW 11 69,865,928 (GRCm39) missense probably benign 0.01
R4176:Elp5 UTSW 11 69,861,388 (GRCm39) missense probably null 0.90
R4650:Elp5 UTSW 11 69,860,398 (GRCm39) missense possibly damaging 0.69
R4988:Elp5 UTSW 11 69,870,668 (GRCm39) missense probably benign 0.03
R7695:Elp5 UTSW 11 69,860,327 (GRCm39) missense probably benign 0.10
R7878:Elp5 UTSW 11 69,861,425 (GRCm39) missense probably damaging 0.98
R9688:Elp5 UTSW 11 69,861,425 (GRCm39) missense probably damaging 0.98
X0024:Elp5 UTSW 11 69,861,425 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CATCCCATTATGCTGCCTGC -3'
(R):5'- AACTCCCTAGTAGAGCAGGTG -3'

Sequencing Primer
(F):5'- TTTCGGAAAGGCCTCCCTAAG -3'
(R):5'- CAGGTGCGTGTCCTGGG -3'
Posted On 2015-06-10