Incidental Mutation 'IGL02377:Emg1'
ID 291169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Emg1
Ensembl Gene ENSMUSG00000004268
Gene Name EMG1 N1-specific pseudouridine methyltransferase
Synonyms Grcc2f
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02377
Quality Score
Status
Chromosome 6
Chromosomal Location 124681344-124689118 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124681620 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 208 (V208A)
Ref Sequence ENSEMBL: ENSMUSP00000004379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004379] [ENSMUST00000004381] [ENSMUST00000128721] [ENSMUST00000203238]
AlphaFold O35130
Predicted Effect probably benign
Transcript: ENSMUST00000004379
AA Change: V208A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268
AA Change: V208A

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 probably benign
Transcript: ENSMUST00000203238
SMART Domains Protein: ENSMUSP00000144730
Gene: ENSMUSG00000004268

DomainStartEndE-ValueType
Pfam:EMG1 55 122 1e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152176
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204334
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141251
Coding Region Coverage
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A T 11: 119,937,689 (GRCm39) probably benign Het
Abca15 T C 7: 119,965,133 (GRCm39) probably benign Het
App T C 16: 84,879,719 (GRCm39) Q138R probably benign Het
Asah2 T A 19: 31,986,814 (GRCm39) I529F probably benign Het
Atp8b3 A G 10: 80,356,128 (GRCm39) S1195P probably benign Het
Brca1 A G 11: 101,415,149 (GRCm39) M134T probably benign Het
Cacna1s T C 1: 135,996,732 (GRCm39) L111P probably damaging Het
Capns2 A T 8: 93,628,215 (GRCm39) N35Y probably benign Het
Ccne1 A G 7: 37,798,415 (GRCm39) probably null Het
Cfap91 G T 16: 38,153,181 (GRCm39) probably benign Het
Csf1r G T 18: 61,257,540 (GRCm39) probably benign Het
Dipk2b T A X: 18,313,930 (GRCm39) I131F possibly damaging Het
Dlg3 A T X: 99,817,007 (GRCm39) Y326F possibly damaging Het
Dnah8 T C 17: 31,013,770 (GRCm39) V3837A probably damaging Het
Dock10 A G 1: 80,562,711 (GRCm39) probably null Het
Eml6 T A 11: 29,727,282 (GRCm39) D1280V probably damaging Het
Ep400 T C 5: 110,868,691 (GRCm39) D911G unknown Het
Fam171a1 T C 2: 3,224,623 (GRCm39) probably null Het
Fcgbp T C 7: 27,806,395 (GRCm39) V2121A possibly damaging Het
Fggy G A 4: 95,511,714 (GRCm39) probably benign Het
Fignl1 G T 11: 11,752,845 (GRCm39) T70K possibly damaging Het
Fndc3b T C 3: 27,674,801 (GRCm39) E47G probably damaging Het
Frmd4a A G 2: 4,539,385 (GRCm39) K189E possibly damaging Het
Hpse T A 5: 100,839,199 (GRCm39) Y383F probably damaging Het
Ip6k2 T C 9: 108,681,798 (GRCm39) L197P probably damaging Het
Klf1 A C 8: 85,631,561 (GRCm39) H375P probably damaging Het
Krtap6-5 T A 16: 88,844,734 (GRCm39) probably benign Het
Lacc1 A T 14: 77,267,055 (GRCm39) S403T probably damaging Het
Lama3 A G 18: 12,689,807 (GRCm39) I2850V possibly damaging Het
Lats2 C T 14: 57,929,052 (GRCm39) R941Q probably damaging Het
Lgals3bp A T 11: 118,284,290 (GRCm39) Y430N probably benign Het
Lrig3 A T 10: 125,850,743 (GRCm39) H1103L probably benign Het
Lrrc40 G A 3: 157,742,365 (GRCm39) M1I probably null Het
Magee2 A T X: 103,900,399 (GRCm39) V84D possibly damaging Het
Msantd2 G A 9: 37,434,602 (GRCm39) V281I possibly damaging Het
Mycbpap A G 11: 94,394,076 (GRCm39) V340A probably damaging Het
Myh6 A T 14: 55,181,775 (GRCm39) M1842K probably benign Het
Mylk4 T C 13: 32,906,130 (GRCm39) D145G possibly damaging Het
Nfkbid C T 7: 30,124,689 (GRCm39) Q160* probably null Het
Or11h6 T A 14: 50,879,975 (GRCm39) probably null Het
Or2y1d A T 11: 49,321,859 (GRCm39) K185N probably damaging Het
Or5w1b T A 2: 87,475,630 (GRCm39) Y279F probably damaging Het
Or7e168 C T 9: 19,720,343 (GRCm39) S243F probably damaging Het
Or8c11 A T 9: 38,289,542 (GRCm39) T122S probably damaging Het
Or9q2 T G 19: 13,772,693 (GRCm39) Q94P possibly damaging Het
Pdgfrb A C 18: 61,213,404 (GRCm39) Q916P probably damaging Het
Pex14 T C 4: 149,050,743 (GRCm39) Q174R probably benign Het
Pogz T C 3: 94,786,321 (GRCm39) S970P probably damaging Het
Potegl T C 2: 23,102,667 (GRCm39) probably benign Het
Rabggta A G 14: 55,955,952 (GRCm39) V165A possibly damaging Het
Rdh10 G A 1: 16,176,438 (GRCm39) W66* probably null Het
Ripor2 T A 13: 24,879,549 (GRCm39) probably benign Het
Slc35g1 T A 19: 38,391,678 (GRCm39) M320K possibly damaging Het
Slc9a7 A G X: 20,068,963 (GRCm39) Y197H probably damaging Het
Smn1 T C 13: 100,272,192 (GRCm39) probably benign Het
Spam1 G A 6: 24,796,696 (GRCm39) G216S probably damaging Het
Spata31 A T 13: 65,068,194 (GRCm39) N114I probably damaging Het
Sptbn1 A T 11: 30,069,491 (GRCm39) V1615D possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Thoc2 T A X: 40,914,355 (GRCm39) Q1005H possibly damaging Het
Thra G A 11: 98,652,742 (GRCm39) R189Q probably damaging Het
Trappc11 A T 8: 47,983,685 (GRCm39) probably null Het
Vps13d G T 4: 144,882,934 (GRCm39) H886Q probably damaging Het
Zfp157 G A 5: 138,445,859 (GRCm39) W71* probably null 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
IGL03005:Emg1 APN 6 124,681,557 (GRCm39) missense probably damaging 0.99
R2887:Emg1 UTSW 6 124,682,026 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16