Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01891:Ermp1'

179250

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ermp1

Ensembl Gene

ENSMUSG00000046324

Gene Name

endoplasmic reticulum metallopeptidase 1

Synonyms

D19Wsu12e, D19Ertd410e, b2b2633Clo

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01891

Quality Score

Status

Chromosome

Chromosomal Location

29587276-29625815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29594002 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 723 (I723V)

Ref Sequence

ENSEMBL: ENSMUSP00000124881 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054083] [ENSMUST00000159692] [ENSMUST00000162534]

AlphaFold

Q3UVK0

Predicted Effect

probably benign
Transcript: ENSMUST00000054083

SMART Domains

Protein: ENSMUSP00000057069
Gene: ENSMUSG00000046324

Domain	Start	End	E-Value	Type
SCOP:d1amp__	31	159	3e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159692
AA Change: I723V

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: I723V

Domain	Start	End	E-Value	Type
low complexity region	9	26	N/A	INTRINSIC
low complexity region	65	94	N/A	INTRINSIC
Pfam:Peptidase_M28	179	373	1.3e-49	PFAM
Pfam:Peptidase_M20	184	375	2.9e-8	PFAM
transmembrane domain	405	427	N/A	INTRINSIC
transmembrane domain	444	466	N/A	INTRINSIC
transmembrane domain	481	503	N/A	INTRINSIC
transmembrane domain	516	538	N/A	INTRINSIC
transmembrane domain	543	562	N/A	INTRINSIC
transmembrane domain	575	597	N/A	INTRINSIC
transmembrane domain	617	639	N/A	INTRINSIC
transmembrane domain	646	668	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160125

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161749

Predicted Effect

probably benign
Transcript: ENSMUST00000162534

SMART Domains

Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M28	5	176	2.4e-40	PFAM
Pfam:Peptidase_M20	8	168	1.3e-8	PFAM
transmembrane domain	218	240	N/A	INTRINSIC
transmembrane domain	257	279	N/A	INTRINSIC
transmembrane domain	294	316	N/A	INTRINSIC
transmembrane domain	329	351	N/A	INTRINSIC
transmembrane domain	356	375	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit cardiovascular defects including double outlet right ventricle, aortic arch anomalies and vascular ring, as well as anopthalmia, renal dysplasia, and craniofacial anomalies including short snout, cleft palate and cleft lip. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	T	C	4: 49,383,395 (GRCm39)	T53A	probably benign	Het
Aoc1	A	G	6: 48,885,776 (GRCm39)		probably benign	Het
Ctsf	G	A	19: 4,906,595 (GRCm39)	R174Q	probably damaging	Het
Ddo	T	C	10: 40,523,643 (GRCm39)	V211A	possibly damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H2-M3	T	G	17: 37,583,608 (GRCm39)	I322S	probably benign	Het
Npc1l1	T	C	11: 6,164,280 (GRCm39)	T1206A	probably damaging	Het
Pold3	A	T	7: 99,737,352 (GRCm39)		probably benign	Het
Ripor3	T	C	2: 167,825,071 (GRCm39)	T813A	possibly damaging	Het
Suco	T	C	1: 161,666,371 (GRCm39)	N510D	probably damaging	Het
Tas2r120	A	G	6: 132,634,807 (GRCm39)	*296W	probably null	Het
Tox2	G	T	2: 163,164,903 (GRCm39)	K514N	possibly damaging	Het
Ubr4	G	A	4: 139,163,571 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Zbtb1	T	A	12: 76,432,435 (GRCm39)	F140L	probably damaging	Het
Zc3h14	T	C	12: 98,725,206 (GRCm39)		probably benign	Het

Other mutations in Ermp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Ermp1	APN	19	29,617,339 (GRCm39)	missense	probably damaging	1.00
IGL01696:Ermp1	APN	19	29,623,538 (GRCm39)	missense	possibly damaging	0.65
IGL01759:Ermp1	APN	19	29,593,236 (GRCm39)	missense	probably benign	0.03
IGL02008:Ermp1	APN	19	29,590,320 (GRCm39)	missense	probably damaging	1.00
IGL02034:Ermp1	APN	19	29,623,359 (GRCm39)	splice site	probably benign
IGL02655:Ermp1	APN	19	29,623,610 (GRCm39)	nonsense	probably null
IGL03074:Ermp1	APN	19	29,589,935 (GRCm39)	missense	probably damaging	1.00
PIT4366001:Ermp1	UTSW	19	29,606,189 (GRCm39)	missense	probably benign	0.24
R0050:Ermp1	UTSW	19	29,606,184 (GRCm39)	missense	probably damaging	0.96
R0050:Ermp1	UTSW	19	29,606,184 (GRCm39)	missense	probably damaging	0.96
R0096:Ermp1	UTSW	19	29,608,788 (GRCm39)	missense	possibly damaging	0.91
R0096:Ermp1	UTSW	19	29,608,788 (GRCm39)	missense	possibly damaging	0.91
R0361:Ermp1	UTSW	19	29,608,806 (GRCm39)	missense	probably damaging	1.00
R0684:Ermp1	UTSW	19	29,609,941 (GRCm39)	splice site	probably benign
R0711:Ermp1	UTSW	19	29,608,788 (GRCm39)	missense	possibly damaging	0.91
R1167:Ermp1	UTSW	19	29,606,079 (GRCm39)	missense	possibly damaging	0.53
R1869:Ermp1	UTSW	19	29,623,415 (GRCm39)	missense	possibly damaging	0.66
R1884:Ermp1	UTSW	19	29,594,079 (GRCm39)	missense	probably benign	0.00
R2094:Ermp1	UTSW	19	29,617,328 (GRCm39)	missense	probably benign	0.09
R2135:Ermp1	UTSW	19	29,623,465 (GRCm39)	missense	possibly damaging	0.81
R2153:Ermp1	UTSW	19	29,614,798 (GRCm39)	critical splice acceptor site	probably null
R2290:Ermp1	UTSW	19	29,601,178 (GRCm39)	missense	probably damaging	1.00
R4176:Ermp1	UTSW	19	29,623,365 (GRCm39)	critical splice donor site	probably null
R4363:Ermp1	UTSW	19	29,590,276 (GRCm39)	missense	probably damaging	1.00
R4579:Ermp1	UTSW	19	29,594,051 (GRCm39)	missense	probably damaging	0.98
R4761:Ermp1	UTSW	19	29,623,656 (GRCm39)	missense	probably benign	0.03
R5801:Ermp1	UTSW	19	29,590,228 (GRCm39)	missense	probably damaging	1.00
R5931:Ermp1	UTSW	19	29,593,129 (GRCm39)	missense	probably benign	0.01
R6129:Ermp1	UTSW	19	29,600,609 (GRCm39)	missense	possibly damaging	0.95
R6556:Ermp1	UTSW	19	29,590,321 (GRCm39)	missense	possibly damaging	0.91
R6563:Ermp1	UTSW	19	29,601,178 (GRCm39)	missense	probably damaging	1.00
R6598:Ermp1	UTSW	19	29,609,902 (GRCm39)	missense	possibly damaging	0.82
R6647:Ermp1	UTSW	19	29,604,335 (GRCm39)	missense	probably benign	0.27
R6850:Ermp1	UTSW	19	29,594,041 (GRCm39)	missense	probably damaging	1.00
R6912:Ermp1	UTSW	19	29,594,011 (GRCm39)	missense	probably benign	0.02
R7341:Ermp1	UTSW	19	29,623,654 (GRCm39)	missense	probably benign	0.20
R7391:Ermp1	UTSW	19	29,604,469 (GRCm39)	critical splice acceptor site	probably null
R7391:Ermp1	UTSW	19	29,604,468 (GRCm39)	critical splice acceptor site	probably null
R7463:Ermp1	UTSW	19	29,623,662 (GRCm39)	nonsense	probably null
R7471:Ermp1	UTSW	19	29,590,054 (GRCm39)	missense	probably benign	0.06
R7831:Ermp1	UTSW	19	29,595,367 (GRCm39)	missense	probably benign	0.00
R7836:Ermp1	UTSW	19	29,609,788 (GRCm39)	splice site	probably null
R7923:Ermp1	UTSW	19	29,606,058 (GRCm39)	missense	probably benign	0.01
R8113:Ermp1	UTSW	19	29,593,196 (GRCm39)	missense	probably benign	0.00
R8116:Ermp1	UTSW	19	29,601,196 (GRCm39)	missense	probably damaging	0.98
R8692:Ermp1	UTSW	19	29,594,093 (GRCm39)	missense	probably benign	0.04
R9083:Ermp1	UTSW	19	29,623,415 (GRCm39)	missense	probably benign	0.00
R9180:Ermp1	UTSW	19	29,609,845 (GRCm39)	missense	probably benign	0.34
R9292:Ermp1	UTSW	19	29,606,049 (GRCm39)	missense	probably benign	0.01
R9460:Ermp1	UTSW	19	29,609,916 (GRCm39)	missense	probably benign	0.03
R9613:Ermp1	UTSW	19	29,617,256 (GRCm39)	critical splice donor site	probably null
R9684:Ermp1	UTSW	19	29,594,106 (GRCm39)	missense	probably benign	0.45
Z1088:Ermp1	UTSW	19	29,590,325 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07