Incidental Mutation 'R5450:Eral1'
ID 429292
Institutional Source Beutler Lab
Gene Symbol Eral1
Ensembl Gene ENSMUSG00000020832
Gene Name Era like 12S mitochondrial rRNA chaperone 1
Synonyms MERA-S, 9130407C09Rik, 2610524P08Rik, MERA-W
MMRRC Submission 043015-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5450 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 77964202-77971209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 77969183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 106 (D106N)
Ref Sequence ENSEMBL: ENSMUSP00000021183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021183]
AlphaFold Q9CZU4
Predicted Effect probably benign
Transcript: ENSMUST00000021183
AA Change: D106N

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: D106N

DomainStartEndE-ValueType
low complexity region 79 92 N/A INTRINSIC
Pfam:AIG1 114 249 2.2e-11 PFAM
Pfam:FeoB_N 114 260 5e-10 PFAM
Pfam:MMR_HSR1 115 237 4e-21 PFAM
Pfam:Dynamin_N 116 162 1.6e-6 PFAM
Pfam:KH_2 363 437 6.3e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139731
Meta Mutation Damage Score 0.2556 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Arhgef4 T G 1: 34,846,405 (GRCm39) probably benign Het
Atg14 T C 14: 47,788,921 (GRCm39) N144S probably benign Het
Cacna1h A T 17: 25,602,160 (GRCm39) M1454K probably damaging Het
Catsperb A T 12: 101,412,327 (GRCm39) H138L possibly damaging Het
Cd200r2 T A 16: 44,729,934 (GRCm39) D159E probably benign Het
Cd79a G T 7: 24,598,687 (GRCm39) G79C probably damaging Het
Ceacam20 A G 7: 19,712,133 (GRCm39) H38R possibly damaging Het
Cers1 T C 8: 70,770,947 (GRCm39) L119P probably damaging Het
Ces1f C A 8: 93,992,423 (GRCm39) V343L probably benign Het
Ces3a G A 8: 105,784,550 (GRCm39) G511S possibly damaging Het
Cyfip2 A G 11: 46,175,079 (GRCm39) C98R probably benign Het
Cyp2j11 C A 4: 96,228,113 (GRCm39) V169L probably benign Het
Cyp4f17 A G 17: 32,747,860 (GRCm39) T523A probably benign Het
Ddx31 T C 2: 28,776,981 (GRCm39) S567P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dsg1b A C 18: 20,542,121 (GRCm39) H876P probably damaging Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Eno4 T C 19: 58,948,679 (GRCm39) F393S possibly damaging Het
Esp18 G T 17: 39,719,070 (GRCm39) R23M probably benign Het
Fam184b C T 5: 45,697,143 (GRCm39) V674I probably benign Het
Fbxw13 A C 9: 109,013,225 (GRCm39) N154K probably benign Het
Gtpbp6 A G 5: 110,254,991 (GRCm39) V130A probably damaging Het
Hc T C 2: 34,903,050 (GRCm39) D1067G possibly damaging Het
Ighg1 A T 12: 113,294,126 (GRCm39) S6T unknown Het
Ikzf3 C T 11: 98,357,912 (GRCm39) R475H probably damaging Het
Itprid1 T A 6: 55,945,796 (GRCm39) probably null Het
Kcmf1 A T 6: 72,819,913 (GRCm39) L311* probably null Het
Kmt2d C A 15: 98,752,967 (GRCm39) E184D probably damaging Het
Lrguk A T 6: 34,047,996 (GRCm39) I314F probably damaging Het
Maml2 A C 9: 13,617,763 (GRCm39) S370R probably damaging Het
Mroh1 C A 15: 76,316,547 (GRCm39) probably benign Het
Mx1 A T 16: 97,255,347 (GRCm39) Y235* probably null Het
Or4x6 A G 2: 89,949,013 (GRCm39) *310Q probably null Het
Pamr1 T G 2: 102,469,662 (GRCm39) Y403D probably damaging Het
Panx2 A G 15: 88,953,162 (GRCm39) E551G possibly damaging Het
Patl2 A G 2: 121,955,762 (GRCm39) V258A probably benign Het
Ppm1m A G 9: 106,074,041 (GRCm39) F255L probably benign Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Psg18 T A 7: 18,087,350 (GRCm39) I103F probably benign Het
Rpl39-ps A G 15: 102,543,583 (GRCm39) noncoding transcript Het
Rps6kb1 A T 11: 86,423,663 (GRCm39) F106I probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sardh G T 2: 27,129,710 (GRCm39) T245K possibly damaging Het
Shprh T G 10: 11,088,074 (GRCm39) I1619S possibly damaging Het
Skint1 G A 4: 111,882,729 (GRCm39) V258I probably benign Het
Slc27a5 T C 7: 12,728,869 (GRCm39) D331G probably benign Het
Slc29a2 A G 19: 5,079,303 (GRCm39) I309V probably benign Het
Slc30a5 C T 13: 100,957,680 (GRCm39) V130I possibly damaging Het
Slc4a3 C A 1: 75,529,300 (GRCm39) A531D probably damaging Het
Slc6a16 C T 7: 44,910,672 (GRCm39) T399I probably benign Het
Slitrk6 T A 14: 110,987,529 (GRCm39) H726L probably benign Het
Snx2 A G 18: 53,343,784 (GRCm39) K309R probably damaging Het
Speer4f2 T A 5: 17,578,217 (GRCm39) C4S possibly damaging Het
Sulf1 T C 1: 12,867,131 (GRCm39) V105A probably benign Het
Tcstv7a A T 13: 120,289,899 (GRCm39) V99E probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Vmn1r47 T C 6: 89,999,195 (GRCm39) L109P probably damaging Het
Vmn1r73 C A 7: 11,490,376 (GRCm39) Q65K possibly damaging Het
Vmn1r76 T C 7: 11,664,611 (GRCm39) Y166C probably damaging Het
Vmn2r2 T C 3: 64,034,011 (GRCm39) T504A probably benign Het
Wdr75 C A 1: 45,851,324 (GRCm39) A300E probably benign Het
Yars1 A G 4: 129,091,039 (GRCm39) E149G possibly damaging Het
Zbtb18 T C 1: 177,274,771 (GRCm39) F35L probably damaging Het
Zfp366 A G 13: 99,366,093 (GRCm39) Y418C probably damaging Het
Other mutations in Eral1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01478:Eral1 APN 11 77,966,558 (GRCm39) missense probably damaging 1.00
IGL01643:Eral1 APN 11 77,965,104 (GRCm39) critical splice donor site probably null
IGL02240:Eral1 APN 11 77,968,687 (GRCm39) nonsense probably null
IGL03085:Eral1 APN 11 77,969,093 (GRCm39) missense probably damaging 1.00
K3955:Eral1 UTSW 11 77,966,847 (GRCm39) missense probably damaging 1.00
P0038:Eral1 UTSW 11 77,966,847 (GRCm39) missense probably damaging 1.00
R0240:Eral1 UTSW 11 77,966,884 (GRCm39) splice site probably benign
R1084:Eral1 UTSW 11 77,965,324 (GRCm39) missense probably damaging 0.96
R1563:Eral1 UTSW 11 77,966,232 (GRCm39) missense probably benign 0.39
R1881:Eral1 UTSW 11 77,966,875 (GRCm39) missense possibly damaging 0.67
R1995:Eral1 UTSW 11 77,965,315 (GRCm39) missense probably benign
R2189:Eral1 UTSW 11 77,966,657 (GRCm39) missense probably benign 0.15
R2870:Eral1 UTSW 11 77,967,104 (GRCm39) missense possibly damaging 0.95
R2870:Eral1 UTSW 11 77,967,104 (GRCm39) missense possibly damaging 0.95
R4049:Eral1 UTSW 11 77,966,428 (GRCm39) missense probably damaging 1.00
R4585:Eral1 UTSW 11 77,969,130 (GRCm39) missense probably damaging 1.00
R4586:Eral1 UTSW 11 77,969,130 (GRCm39) missense probably damaging 1.00
R4758:Eral1 UTSW 11 77,966,425 (GRCm39) missense probably benign 0.20
R5613:Eral1 UTSW 11 77,965,230 (GRCm39) intron probably benign
R5987:Eral1 UTSW 11 77,971,059 (GRCm39) missense possibly damaging 0.90
R6048:Eral1 UTSW 11 77,966,609 (GRCm39) missense probably benign 0.03
R6363:Eral1 UTSW 11 77,965,143 (GRCm39) missense probably damaging 1.00
R6891:Eral1 UTSW 11 77,966,559 (GRCm39) missense possibly damaging 0.76
R7384:Eral1 UTSW 11 77,964,927 (GRCm39) missense possibly damaging 0.81
R7468:Eral1 UTSW 11 77,966,219 (GRCm39) missense probably damaging 1.00
R7762:Eral1 UTSW 11 77,965,359 (GRCm39) missense possibly damaging 0.94
R8304:Eral1 UTSW 11 77,966,828 (GRCm39) missense probably damaging 0.96
R8419:Eral1 UTSW 11 77,964,906 (GRCm39) missense possibly damaging 0.73
R8433:Eral1 UTSW 11 77,966,309 (GRCm39) missense probably benign
R9136:Eral1 UTSW 11 77,964,960 (GRCm39) missense
R9384:Eral1 UTSW 11 77,969,130 (GRCm39) missense probably damaging 1.00
R9670:Eral1 UTSW 11 77,965,410 (GRCm39) missense
X0066:Eral1 UTSW 11 77,966,591 (GRCm39) missense probably damaging 1.00
Z1176:Eral1 UTSW 11 77,966,446 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCAATGAGACCCCAGATCTCTC -3'
(R):5'- GCTCAAATGCCAAGCTAGTC -3'

Sequencing Primer
(F):5'- AGTTCCTAAGTGGTGGCTCACAAC -3'
(R):5'- GCCAAGCTAGTCTCAAAGTTAAG -3'
Posted On 2016-09-06