Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03005:Emg1'

407501

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 #

IGL03005

Quality Score

Status

Chromosome

Chromosomal Location

124681344-124689118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 124681557 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 229 (T229I)

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: T229I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268
AA Change: T229I

Domain	Start	End	E-Value	Type
Pfam:EMG1	45	238	2.9e-87	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000004381

SMART Domains

Protein: ENSMUSP00000004381
Gene: ENSMUSG00000004270

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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: ENSMUST00000150597

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204334

Predicted Effect

probably benign
Transcript: ENSMUST00000203238

SMART Domains

Protein: ENSMUSP00000144730
Gene: ENSMUSG00000004268

Domain	Start	End	E-Value	Type
Pfam:EMG1	55	122	1e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142187

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt3	A	T	1: 176,894,793 (GRCm39)	V268E	probably damaging	Het
Aoc1l1	T	A	6: 48,953,480 (GRCm39)	Y468*	probably null	Het
Apob	A	G	12: 8,043,059 (GRCm39)		probably benign	Het
Arhgap19	T	C	19: 41,772,856 (GRCm39)		probably benign	Het
C2cd2	A	G	16: 97,660,632 (GRCm39)	L672P	probably damaging	Het
Cars1	A	G	7: 143,112,906 (GRCm39)	F774L	probably damaging	Het
Cd200r3	T	A	16: 44,773,973 (GRCm39)	S128R	probably damaging	Het
Chd9	A	G	8: 91,738,075 (GRCm39)	N1569S	probably damaging	Het
Chmp7	G	A	14: 69,957,277 (GRCm39)	R294C	probably damaging	Het
Col10a1	A	T	10: 34,271,734 (GRCm39)	I569F	probably damaging	Het
Cspg4	T	A	9: 56,795,772 (GRCm39)	V1169D	probably damaging	Het
Fmo9	C	T	1: 166,502,088 (GRCm39)	S179N	probably benign	Het
Frem1	T	C	4: 82,912,371 (GRCm39)	Y667C	probably damaging	Het
Gpsm2	A	G	3: 108,594,322 (GRCm39)		probably benign	Het
Gsdma	A	T	11: 98,567,085 (GRCm39)	E395V	probably damaging	Het
Gsdmd	C	T	15: 75,739,015 (GRCm39)	T464M	possibly damaging	Het
Iqschfp	C	A	3: 68,526,010 (GRCm39)	Q395K	possibly damaging	Het
Lipo3	T	C	19: 33,763,136 (GRCm39)	I36V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,139 (GRCm39)	S199G	probably damaging	Het
Lypla1	C	T	1: 4,902,613 (GRCm39)		probably benign	Het
Mst1r	C	T	9: 107,791,748 (GRCm39)	Q809*	probably null	Het
Mtr	T	A	13: 12,250,335 (GRCm39)		probably benign	Het
Or4a39	G	A	2: 89,237,315 (GRCm39)	T36I	possibly damaging	Het
Pax7	T	A	4: 139,556,007 (GRCm39)	I156F	probably damaging	Het
Pcdhb8	T	A	18: 37,490,587 (GRCm39)	L755Q	probably damaging	Het
Pdzd2	G	A	15: 12,385,351 (GRCm39)	P1140S	probably damaging	Het
Pdzrn4	T	C	15: 92,668,272 (GRCm39)	L808P	probably damaging	Het
Pex1	G	T	5: 3,680,292 (GRCm39)	Q971H	probably null	Het
Pgap6	C	T	17: 26,337,911 (GRCm39)	L432F	probably benign	Het
Pld1	T	A	3: 28,141,402 (GRCm39)	V655E	possibly damaging	Het
Pnpla3	C	T	15: 84,058,469 (GRCm39)	R163W	probably damaging	Het
Rabgef1	T	C	5: 130,237,638 (GRCm39)	L237P	probably damaging	Het
Setbp1	A	T	18: 78,902,340 (GRCm39)	N442K	possibly damaging	Het
Sorl1	T	G	9: 41,968,621 (GRCm39)	D544A	probably damaging	Het
Spire2	C	A	8: 124,090,107 (GRCm39)	P490T	probably benign	Het
Zeb1	T	A	18: 5,767,150 (GRCm39)	S554T	probably benign	Het

Other mutations in Emg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02