Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01331:Emg1'

74519

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 #

IGL01331

Quality Score

Status

Chromosome

Chromosomal Location

124681344-124689118 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124682033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 164 (S164P)

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: S164P

PolyPhen 2 Score 0.378 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000004379
Gene: ENSMUSG00000004268
AA Change: S164P

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: ENSMUST00000152176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142187

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: ENSMUST00000204334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141546

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Clca3a1	G	A	3: 144,453,273 (GRCm39)	T517M	probably damaging	Het
Clec4g	T	C	8: 3,767,190 (GRCm39)		probably benign	Het
Cmya5	C	T	13: 93,233,454 (GRCm39)	E545K	possibly damaging	Het
Cntn6	A	T	6: 104,751,484 (GRCm39)	D380V	probably damaging	Het
Col9a2	C	T	4: 120,902,389 (GRCm39)	P209S	possibly damaging	Het
Cyp2b9	T	C	7: 25,887,140 (GRCm39)	V183A	probably damaging	Het
Dpt	T	C	1: 164,624,379 (GRCm39)	Y27H	unknown	Het
Dusp16	T	C	6: 134,695,067 (GRCm39)	Q588R	possibly damaging	Het
Foxk1	G	A	5: 142,439,344 (GRCm39)	R428Q	probably damaging	Het
Frmd4a	T	A	2: 4,607,036 (GRCm39)	M667K	probably benign	Het
Gpr55	T	A	1: 85,868,915 (GRCm39)		probably benign	Het
Gtpbp8	A	G	16: 44,560,494 (GRCm39)	I162T	probably benign	Het
Ighv1-59	C	T	12: 115,298,992 (GRCm39)	V21I	possibly damaging	Het
Ipo11	T	A	13: 106,932,254 (GRCm39)	Y938F	possibly damaging	Het
Map4	G	T	9: 109,863,869 (GRCm39)	V365L	probably benign	Het
Mboat1	C	A	13: 30,403,684 (GRCm39)		probably benign	Het
Med12	A	G	X: 100,324,360 (GRCm39)	E649G	possibly damaging	Het
Nfkbie	T	C	17: 45,869,495 (GRCm39)	V150A	probably benign	Het
Or51ai2	A	G	7: 103,586,782 (GRCm39)	Y65C	possibly damaging	Het
Or8k22	A	C	2: 86,163,048 (GRCm39)	Y217*	probably null	Het
Prdm1	T	A	10: 44,317,970 (GRCm39)	K299N	possibly damaging	Het
Ribc1	T	C	X: 150,788,102 (GRCm39)	T291A	probably benign	Het
Rps6kc1	G	T	1: 190,532,549 (GRCm39)	N484K	possibly damaging	Het
Serpina3k	C	A	12: 104,309,369 (GRCm39)	A271D	probably benign	Het
Spata18	G	T	5: 73,827,024 (GRCm39)	R321L	probably damaging	Het
Styxl2	C	A	1: 165,935,749 (GRCm39)	V150L	probably damaging	Het
Syne2	C	A	12: 75,976,027 (GRCm39)		probably benign	Het
Syt17	T	A	7: 118,007,389 (GRCm39)	I302F	probably damaging	Het
Tgm6	A	G	2: 129,985,538 (GRCm39)		probably null	Het
Tmc2	A	G	2: 130,074,276 (GRCm39)	Y323C	probably damaging	Het
Tnc	T	C	4: 63,901,112 (GRCm39)	D1452G	probably damaging	Het
Ttn	A	G	2: 76,620,022 (GRCm39)	I7555T	probably damaging	Het
Ugt2b36	A	T	5: 87,238,801 (GRCm39)	W131R	probably damaging	Het
Vmn2r75	A	T	7: 85,820,870 (GRCm39)	C21*	probably null	Het
Zfp592	T	A	7: 80,691,296 (GRCm39)	C1158*	probably null	Het

Other mutations in Emg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-10-07