Incidental Mutation 'R2870:Eral1'
ID 253622
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 040458-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2870 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 77964202-77971209 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77967104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 164 (I164T)
Ref Sequence ENSEMBL: ENSMUSP00000021183 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021183]
AlphaFold Q9CZU4
Predicted Effect possibly damaging
Transcript: ENSMUST00000021183
AA Change: I164T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000021183
Gene: ENSMUSG00000020832
AA Change: I164T

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: ENSMUST00000083467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135154
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139731
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196157
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.5%
  • 10x: 94.1%
  • 20x: 79.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt3 A G 3: 30,653,847 (GRCm39) V51A probably damaging Het
Adgb C T 10: 10,307,025 (GRCm39) probably null Het
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
Ankrd10 C T 8: 11,665,682 (GRCm39) R306H probably damaging Het
Arhgef10 T C 8: 15,025,093 (GRCm39) probably null Het
Arhgef10 A G 8: 15,025,666 (GRCm39) I459V probably benign Het
Armc2 C T 10: 41,842,696 (GRCm39) probably null Het
Atp12a A G 14: 56,624,407 (GRCm39) R952G possibly damaging Het
Atp6v1g1 A G 4: 63,468,258 (GRCm39) Y87C probably benign Het
Cacna2d1 G A 5: 16,517,566 (GRCm39) C404Y probably damaging Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Cimap1d G A 10: 79,481,487 (GRCm39) T14I probably benign Het
Clasrp C A 7: 19,319,165 (GRCm39) probably benign Het
Csmd2 T C 4: 128,451,511 (GRCm39) F113S unknown Het
Csmd3 C T 15: 47,721,320 (GRCm39) G1437D probably damaging Het
Cyp4a14 C A 4: 115,344,498 (GRCm39) G456W probably damaging Het
Cyp4a30b A G 4: 115,315,559 (GRCm39) H260R possibly damaging Het
Dcp1b C T 6: 119,191,735 (GRCm39) S217L probably benign Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Dmp1 A G 5: 104,359,974 (GRCm39) S217G probably benign Het
Eef2 GCCC GCCCC 10: 81,014,601 (GRCm39) probably null Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Esr1 G A 10: 4,947,890 (GRCm39) R481H probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Gria4 T A 9: 4,503,614 (GRCm39) N334I probably damaging Het
Grm5 T C 7: 87,251,930 (GRCm39) V60A possibly damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ift172 C T 5: 31,415,205 (GRCm39) V1335I probably benign Het
Ino80d C T 1: 63,100,198 (GRCm39) probably null Het
Kif1c A G 11: 70,614,907 (GRCm39) E567G probably damaging Het
Krt31 T G 11: 99,938,699 (GRCm39) N298T possibly damaging Het
Matr3 T A 18: 35,705,349 (GRCm39) S91R probably benign Het
Mdm1 A G 10: 117,986,847 (GRCm39) T267A probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mmp1b A T 9: 7,386,875 (GRCm39) silent Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor T A 4: 148,624,487 (GRCm39) M2089K probably benign Het
Mylk2 A G 2: 152,761,268 (GRCm39) K457R probably damaging Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Or10g1 T G 14: 52,648,318 (GRCm39) T4P probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Or8k33 T C 2: 86,383,928 (GRCm39) D180G possibly damaging Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Pcdhb20 A T 18: 37,638,833 (GRCm39) Q453L possibly damaging Het
Pcdhga9 T A 18: 37,870,524 (GRCm39) Y118N possibly damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Plekhg5 T A 4: 152,191,960 (GRCm39) C433S probably benign Het
Plin2 A G 4: 86,586,915 (GRCm39) M1T probably null Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Rel T C 11: 23,711,129 (GRCm39) I13V probably benign Het
Reln C T 5: 22,254,789 (GRCm39) V527I possibly damaging Het
Retnla A G 16: 48,663,975 (GRCm39) R90G probably benign Het
Semp2l2b A T 10: 21,943,278 (GRCm39) I234N probably benign Het
Shoc1 A C 4: 59,093,850 (GRCm39) L226R probably damaging Het
Slc39a8 T A 3: 135,592,554 (GRCm39) probably null Het
Slc5a8 A G 10: 88,740,825 (GRCm39) I247V probably benign Het
Spcs2 T C 7: 99,488,968 (GRCm39) D240G probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tbc1d8 A G 1: 39,444,398 (GRCm39) F187S probably damaging Het
Thbs1 C G 2: 117,949,859 (GRCm39) N611K probably damaging Het
Tipin A C 9: 64,211,609 (GRCm39) S232R probably benign Het
Tmem132b A G 5: 125,715,332 (GRCm39) D347G probably benign Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign 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
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
R5450:Eral1 UTSW 11 77,969,183 (GRCm39) missense probably benign 0.23
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'- GGTCAGTTCTTATGAGGAATGGT -3'
(R):5'- CAGGATGCTGATATCAAAGACAGC -3'

Sequencing Primer
(F):5'- CTTATGAGGAATGGTAGATAAAAGGG -3'
(R):5'- TCATGACCTTCTGAAGAGCAGTCAG -3'
Posted On 2014-12-04