Incidental Mutation 'R2887:Emg1'
ID 261082
Institutional Source Beutler Lab
Gene Symbol Emg1
Ensembl Gene ENSMUSG00000004268
Gene Name EMG1 N1-specific pseudouridine methyltransferase
Synonyms Grcc2f
MMRRC Submission 040475-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2887 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 124681344-124689118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124682026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 166 (H166R)
Ref Sequence ENSEMBL: ENSMUSP00000004379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004379] [ENSMUST00000004381] [ENSMUST00000128721] [ENSMUST00000203238]
AlphaFold O35130
Predicted Effect probably damaging
Transcript: ENSMUST00000004379
AA Change: H166R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268
AA Change: H166R

DomainStartEndE-ValueType
Pfam:EMG1 45 238 2.9e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000004381
SMART Domains Protein: ENSMUSP00000004381
Gene: ENSMUSG00000004270

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
Pfam:MBOAT 126 437 1.2e-81 PFAM
transmembrane domain 454 473 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125795
Predicted Effect probably benign
Transcript: ENSMUST00000128721
SMART Domains Protein: ENSMUSP00000144738
Gene: ENSMUSG00000004270

DomainStartEndE-ValueType
transmembrane domain 41 63 N/A INTRINSIC
transmembrane domain 73 95 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130020
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135516
SMART Domains Protein: ENSMUSP00000122436
Gene: ENSMUSG00000004270

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
transmembrane domain 69 91 N/A INTRINSIC
transmembrane domain 111 133 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142187
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141251
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150597
Predicted Effect probably benign
Transcript: ENSMUST00000203238
SMART Domains Protein: ENSMUSP00000144730
Gene: ENSMUSG00000004268

DomainStartEndE-ValueType
Pfam:EMG1 55 122 1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152176
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential, conserved eukaryotic protein that methylates pseudouridine in 18S rRNA. The related protein in yeast is a component of the small subunit processome and is essential for biogenesis of the ribosomal 40S subunit. A mutation in this gene has been associated with Bowen-Conradi syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a reporter allele fail to form blastocele and die after E3.5. Mice homozygous for another allele exhibit lethality between E8.5 and E12.5, growth retardation, defective enural tube closure, increased cell apoptosis and decreased cell proliferation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009A15Rik T C 19: 8,867,395 (GRCm39) S65P probably damaging Het
Adamts20 C T 15: 94,228,459 (GRCm39) R996H probably benign Het
Aurka A G 2: 172,209,040 (GRCm39) S54P probably benign Het
Clec7a C T 6: 129,447,960 (GRCm39) G35E probably damaging Het
Clock G A 5: 76,393,120 (GRCm39) R239C probably damaging Het
Eefsec T C 6: 88,235,341 (GRCm39) T214A probably benign Het
Fibin T A 2: 110,193,122 (GRCm39) I7F probably benign Het
Golm1 G T 13: 59,788,044 (GRCm39) T285K probably benign Het
Ivl C A 3: 92,478,699 (GRCm39) R455S unknown Het
Lama4 A C 10: 38,968,250 (GRCm39) Q1464P possibly damaging Het
Lamp1 T A 8: 13,223,891 (GRCm39) L341H probably damaging Het
Or13a28 A T 7: 140,218,138 (GRCm39) I175F probably damaging Het
Ppp1r3a T G 6: 14,718,248 (GRCm39) S889R possibly damaging Het
Ptprc A G 1: 138,007,916 (GRCm39) V711A probably damaging Het
Rimklb T C 6: 122,449,657 (GRCm39) T6A probably benign Het
Serpina3c T C 12: 104,113,549 (GRCm39) H399R probably benign Het
Slc35a5 A G 16: 44,971,923 (GRCm39) C114R probably damaging Het
Slc7a13 A G 4: 19,819,052 (GRCm39) Y84C possibly damaging Het
Tcf7l1 G A 6: 72,609,071 (GRCm39) S297L probably damaging Het
Vmn2r98 G T 17: 19,301,439 (GRCm39) A814S possibly damaging Het
Zfp14 G T 7: 29,738,190 (GRCm39) T265K probably damaging Het
Other mutations in Emg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Emg1 APN 6 124,682,033 (GRCm39) missense probably benign 0.38
IGL01724:Emg1 APN 6 124,688,984 (GRCm39) missense possibly damaging 0.59
IGL02377:Emg1 APN 6 124,681,620 (GRCm39) missense probably benign 0.03
IGL03005:Emg1 APN 6 124,681,557 (GRCm39) missense probably damaging 0.99
R3911:Emg1 UTSW 6 124,682,009 (GRCm39) missense probably benign 0.00
R6460:Emg1 UTSW 6 124,688,870 (GRCm39) missense probably damaging 0.99
R7161:Emg1 UTSW 6 124,682,712 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTTCAGCTCCAGGAAGAACC -3'
(R):5'- GGACACATAGCCCAGTTTCC -3'

Sequencing Primer
(F):5'- CTAAGTACACAGCCCAGACTG -3'
(R):5'- CAGTTTCCCCAGGCTGTGTAG -3'
Posted On 2015-01-23