Mutagenetix > Incidental Mutation

Incidental Mutation 'R1167:Ermp1'

101225

Institutional Source

Beutler Lab

Gene Symbol

Ermp1

Ensembl Gene

ENSMUSG00000046324

Gene Name

endoplasmic reticulum metallopeptidase 1

Synonyms

D19Ertd410e, D19Wsu12e

MMRRC Submission

039240-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1167 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29608214-29648415 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29628679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 225 (S225P)

Ref Sequence

ENSEMBL: ENSMUSP00000124992 (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

noncoding transcript
Transcript: ENSMUST00000159243

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159692
AA Change: S412P

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: S412P

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: ENSMUST00000161124

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162534
AA Change: S225P

PolyPhen 2 Score 0.529 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
AA Change: S225P

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

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,579 (GRCm38)	D315V	probably damaging	Het
4931440F15Rik	C	T	11: 29,823,567 (GRCm38)	R630H	probably damaging	Het
Acr	T	C	15: 89,573,974 (GRCm38)	I286T	probably damaging	Het
Adnp	A	G	2: 168,184,500 (GRCm38)	S292P	probably benign	Het
Apol6	T	A	15: 77,047,108 (GRCm38)	Y17*	probably null	Het
Arhgap22	A	G	14: 33,343,307 (GRCm38)		probably null	Het
Bfar	A	G	16: 13,698,894 (GRCm38)	K202E	possibly damaging	Het
Bmpr2	A	T	1: 59,859,304 (GRCm38)	S470C	probably damaging	Het
Cep135	A	G	5: 76,624,637 (GRCm38)	E623G	probably damaging	Het
Clcn3	A	G	8: 60,922,788 (GRCm38)		probably null	Het
Clptm1	A	T	7: 19,634,211 (GRCm38)	M523K	probably damaging	Het
Cyp26b1	A	G	6: 84,584,330 (GRCm38)	W117R	probably damaging	Het
Dnmt3c	T	G	2: 153,711,781 (GRCm38)		probably null	Het
Dst	A	G	1: 34,223,858 (GRCm38)	E2212G	probably damaging	Het
Edrf1	A	G	7: 133,644,066 (GRCm38)	T238A	probably benign	Het
Elmo1	T	C	13: 20,185,455 (GRCm38)	V10A	probably damaging	Het
Fes	A	T	7: 80,383,109 (GRCm38)	L296Q	probably damaging	Het
Foxn1	A	T	11: 78,359,066 (GRCm38)	N544K	probably damaging	Het
Gga1	C	G	15: 78,888,170 (GRCm38)	N223K	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 119,160,716 (GRCm38)		probably null	Het
Gm4884	A	T	7: 41,043,912 (GRCm38)	Q435L	possibly damaging	Het
Gm8444	T	C	15: 81,843,380 (GRCm38)		probably benign	Het
Gm8882	G	A	6: 132,361,590 (GRCm38)	P222S	unknown	Het
Ift140	T	G	17: 25,035,745 (GRCm38)	S131A	probably benign	Het
Ipo4	A	G	14: 55,635,020 (GRCm38)	L88P	probably damaging	Het
Itgal	G	A	7: 127,300,939 (GRCm38)	S123N	probably damaging	Het
Kcnn3	C	T	3: 89,564,952 (GRCm38)	Q344*	probably null	Het
Lrrc8e	A	T	8: 4,235,337 (GRCm38)	M521L	probably benign	Het
Myocd	G	T	11: 65,196,377 (GRCm38)	D113E	possibly damaging	Het
Nek4	G	A	14: 30,974,345 (GRCm38)	R499H	possibly damaging	Het
Notch3	T	C	17: 32,122,745 (GRCm38)	D2011G	possibly damaging	Het
Ola1	A	G	2: 73,097,194 (GRCm38)	V347A	probably damaging	Het
Olfr1037	A	G	2: 86,085,291 (GRCm38)	V162A	probably benign	Het
Olfr1339	C	A	4: 118,734,632 (GRCm38)	F34L	possibly damaging	Het
Olfr790	G	A	10: 129,501,150 (GRCm38)	V89I	probably benign	Het
Oxct2b	A	G	4: 123,117,585 (GRCm38)	T433A	probably damaging	Het
P2ry14	T	C	3: 59,115,131 (GRCm38)	R312G	probably damaging	Het
Pbrm1	A	G	14: 31,050,142 (GRCm38)	N398D	probably damaging	Het
Pdc	T	C	1: 150,333,245 (GRCm38)	Y160H	probably damaging	Het
Pdlim2	C	T	14: 70,164,779 (GRCm38)	R296H	probably damaging	Het
Pop4	A	T	7: 38,263,269 (GRCm38)	D190E	probably benign	Het
R3hdm4	A	G	10: 79,912,073 (GRCm38)		probably null	Het
Rab1a	C	A	11: 20,223,172 (GRCm38)	T91K	possibly damaging	Het
Rad9a	A	G	19: 4,197,502 (GRCm38)	V215A	possibly damaging	Het
Rassf3	A	G	10: 121,416,254 (GRCm38)	V84A	probably damaging	Het
Rftn2	G	A	1: 55,204,299 (GRCm38)	T270M	probably damaging	Het
Rho	A	G	6: 115,935,423 (GRCm38)	T100A	probably damaging	Het
Rnft2	T	C	5: 118,228,882 (GRCm38)	I264V	possibly damaging	Het
Robo3	A	T	9: 37,423,907 (GRCm38)	Y567*	probably null	Het
Rpp14	T	A	14: 8,083,705 (GRCm38)		probably null	Het
Rtkn2	T	C	10: 67,997,620 (GRCm38)	S98P	probably damaging	Het
Ryr2	A	G	13: 11,660,113 (GRCm38)	V3376A	possibly damaging	Het
Sbf2	A	T	7: 110,364,549 (GRCm38)	W1030R	probably damaging	Het
Setbp1	G	A	18: 78,857,236 (GRCm38)	A1072V	possibly damaging	Het
Slc4a10	A	G	2: 62,228,574 (GRCm38)	K142E	probably damaging	Het
Slc52a2	A	G	15: 76,539,591 (GRCm38)	E40G	probably benign	Het
Slc8a2	A	G	7: 16,157,387 (GRCm38)	N784S	possibly damaging	Het
Spats2l	A	T	1: 57,943,111 (GRCm38)	Q384L	probably damaging	Het
Steap4	A	C	5: 7,976,520 (GRCm38)	K161T	probably benign	Het
Taf10	T	C	7: 105,743,231 (GRCm38)	S188G	probably benign	Het
Tbc1d4	C	T	14: 101,608,019 (GRCm38)	D148N	probably damaging	Het
Tenm2	T	G	11: 36,864,684 (GRCm38)	K162N	probably benign	Het
Tmem147	A	G	7: 30,727,796 (GRCm38)	V146A	probably benign	Het
Tnfsf8	A	G	4: 63,837,086 (GRCm38)	S100P	possibly damaging	Het
Trim56	T	C	5: 137,112,520 (GRCm38)	Y714C	probably damaging	Het
Ubxn8	A	G	8: 33,641,901 (GRCm38)	S13P	probably damaging	Het
Usp49	A	G	17: 47,672,226 (GRCm38)	D52G	possibly damaging	Het
Vegfc	A	C	8: 54,186,043 (GRCm38)	Y408S	probably benign	Het
Vmn2r77	A	G	7: 86,801,746 (GRCm38)	N280S	probably benign	Het
Vmn2r8	T	A	5: 108,803,176 (GRCm38)	L134F	probably benign	Het
Wdfy3	T	A	5: 101,875,931 (GRCm38)	I2437F	probably benign	Het
Wwc2	A	T	8: 47,858,779 (GRCm38)	L783*	probably null	Het
Zer1	C	T	2: 30,108,246 (GRCm38)	R351H	probably benign	Het
Zfp715	A	T	7: 43,298,437 (GRCm38)	F700I	possibly damaging	Het
Zfp995	G	A	17: 21,879,979 (GRCm38)	H425Y	probably damaging	Het

Other mutations in Ermp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Ermp1	APN	19	29,639,939 (GRCm38)	missense	probably damaging	1.00
IGL01696:Ermp1	APN	19	29,646,138 (GRCm38)	missense	possibly damaging	0.65
IGL01759:Ermp1	APN	19	29,615,836 (GRCm38)	missense	probably benign	0.03
IGL01891:Ermp1	APN	19	29,616,602 (GRCm38)	missense	probably benign	0.16
IGL02008:Ermp1	APN	19	29,612,920 (GRCm38)	missense	probably damaging	1.00
IGL02034:Ermp1	APN	19	29,645,959 (GRCm38)	splice site	probably benign
IGL02655:Ermp1	APN	19	29,646,210 (GRCm38)	nonsense	probably null
IGL03074:Ermp1	APN	19	29,612,535 (GRCm38)	missense	probably damaging	1.00
PIT4366001:Ermp1	UTSW	19	29,628,789 (GRCm38)	missense	probably benign	0.24
R0050:Ermp1	UTSW	19	29,628,784 (GRCm38)	missense	probably damaging	0.96
R0050:Ermp1	UTSW	19	29,628,784 (GRCm38)	missense	probably damaging	0.96
R0096:Ermp1	UTSW	19	29,631,388 (GRCm38)	missense	possibly damaging	0.91
R0096:Ermp1	UTSW	19	29,631,388 (GRCm38)	missense	possibly damaging	0.91
R0361:Ermp1	UTSW	19	29,631,406 (GRCm38)	missense	probably damaging	1.00
R0684:Ermp1	UTSW	19	29,632,541 (GRCm38)	splice site	probably benign
R0711:Ermp1	UTSW	19	29,631,388 (GRCm38)	missense	possibly damaging	0.91
R1869:Ermp1	UTSW	19	29,646,015 (GRCm38)	missense	possibly damaging	0.66
R1884:Ermp1	UTSW	19	29,616,679 (GRCm38)	missense	probably benign	0.00
R2094:Ermp1	UTSW	19	29,639,928 (GRCm38)	missense	probably benign	0.09
R2135:Ermp1	UTSW	19	29,646,065 (GRCm38)	missense	possibly damaging	0.81
R2153:Ermp1	UTSW	19	29,637,398 (GRCm38)	critical splice acceptor site	probably null
R2290:Ermp1	UTSW	19	29,623,778 (GRCm38)	missense	probably damaging	1.00
R4176:Ermp1	UTSW	19	29,645,965 (GRCm38)	critical splice donor site	probably null
R4363:Ermp1	UTSW	19	29,612,876 (GRCm38)	missense	probably damaging	1.00
R4579:Ermp1	UTSW	19	29,616,651 (GRCm38)	missense	probably damaging	0.98
R4761:Ermp1	UTSW	19	29,646,256 (GRCm38)	missense	probably benign	0.03
R5801:Ermp1	UTSW	19	29,612,828 (GRCm38)	missense	probably damaging	1.00
R5931:Ermp1	UTSW	19	29,615,729 (GRCm38)	missense	probably benign	0.01
R6129:Ermp1	UTSW	19	29,623,209 (GRCm38)	missense	possibly damaging	0.95
R6556:Ermp1	UTSW	19	29,612,921 (GRCm38)	missense	possibly damaging	0.91
R6563:Ermp1	UTSW	19	29,623,778 (GRCm38)	missense	probably damaging	1.00
R6598:Ermp1	UTSW	19	29,632,502 (GRCm38)	missense	possibly damaging	0.82
R6647:Ermp1	UTSW	19	29,626,935 (GRCm38)	missense	probably benign	0.27
R6850:Ermp1	UTSW	19	29,616,641 (GRCm38)	missense	probably damaging	1.00
R6912:Ermp1	UTSW	19	29,616,611 (GRCm38)	missense	probably benign	0.02
R7341:Ermp1	UTSW	19	29,646,254 (GRCm38)	missense	probably benign	0.20
R7391:Ermp1	UTSW	19	29,627,069 (GRCm38)	critical splice acceptor site	probably null
R7391:Ermp1	UTSW	19	29,627,068 (GRCm38)	critical splice acceptor site	probably null
R7463:Ermp1	UTSW	19	29,646,262 (GRCm38)	nonsense	probably null
R7471:Ermp1	UTSW	19	29,612,654 (GRCm38)	missense	probably benign	0.06
R7831:Ermp1	UTSW	19	29,617,967 (GRCm38)	missense	probably benign	0.00
R7836:Ermp1	UTSW	19	29,632,388 (GRCm38)	splice site	probably null
R7923:Ermp1	UTSW	19	29,628,658 (GRCm38)	missense	probably benign	0.01
R8113:Ermp1	UTSW	19	29,615,796 (GRCm38)	missense	probably benign	0.00
R8116:Ermp1	UTSW	19	29,623,796 (GRCm38)	missense	probably damaging	0.98
R8692:Ermp1	UTSW	19	29,616,693 (GRCm38)	missense	probably benign	0.04
R9083:Ermp1	UTSW	19	29,646,015 (GRCm38)	missense	probably benign	0.00
R9180:Ermp1	UTSW	19	29,632,445 (GRCm38)	missense	probably benign	0.34
R9292:Ermp1	UTSW	19	29,628,649 (GRCm38)	missense	probably benign	0.01
R9460:Ermp1	UTSW	19	29,632,516 (GRCm38)	missense	probably benign	0.03
R9613:Ermp1	UTSW	19	29,639,856 (GRCm38)	critical splice donor site	probably null
R9684:Ermp1	UTSW	19	29,616,706 (GRCm38)	missense	probably benign	0.45
Z1088:Ermp1	UTSW	19	29,612,925 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

Posted On

2014-01-15