Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:Ermp1'

569902

Institutional Source

Beutler Lab

Gene Symbol

Ermp1

Ensembl Gene

ENSMUSG00000046324

Gene Name

endoplasmic reticulum metallopeptidase 1

Synonyms

D19Wsu12e, D19Ertd410e, b2b2633Clo

MMRRC Submission

045431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29587276-29625815 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29623654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 112 (H112L)

Ref Sequence

ENSEMBL: ENSMUSP00000124881 (fasta)

Gene Model

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

AlphaFold

Q3UVK0

Predicted Effect

probably benign
Transcript: ENSMUST00000054083
AA Change: H56L

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000057069
Gene: ENSMUSG00000046324
AA Change: H56L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159692
AA Change: H112L

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: H112L

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

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam3	T	A	8: 25,177,996 (GRCm39)	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,206,082 (GRCm39)	C756S	probably damaging	Het
Arhgap31	C	T	16: 38,532,876 (GRCm39)		probably null	Het
Ascl4	G	A	10: 85,764,529 (GRCm39)	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,889,066 (GRCm39)	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330 (GRCm39)	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,251,970 (GRCm39)	L923I	probably damaging	Het
Birc6	T	A	17: 74,919,069 (GRCm39)	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,946,200 (GRCm39)	N3025S	probably benign	Het
Bub1b	C	A	2: 118,467,267 (GRCm39)	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,554,411 (GRCm39)	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644 (GRCm39)	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,014,552 (GRCm39)	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,837,610 (GRCm39)	N437K	probably benign	Het
Cdhr2	T	A	13: 54,867,305 (GRCm39)	L408Q	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chd1	T	C	17: 15,990,499 (GRCm39)	S1684P	probably damaging	Het
CN725425	A	G	15: 91,126,873 (GRCm39)	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,448,678 (GRCm39)	V66A	probably damaging	Het
Cpd	C	A	11: 76,737,779 (GRCm39)	R5L	unknown	Het
Cpeb4	C	T	11: 31,868,807 (GRCm39)	T422I	possibly damaging	Het
Cspg4b	G	T	13: 113,454,706 (GRCm39)	G251C		Het
Cyp1a1	G	T	9: 57,608,107 (GRCm39)	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,705,928 (GRCm39)	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,774,787 (GRCm39)	F122L	probably benign	Het
Drc1	T	A	5: 30,521,812 (GRCm39)	L728Q	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Ecpas	A	T	4: 58,809,415 (GRCm39)	V1653D	possibly damaging	Het
Exoc8	T	C	8: 125,623,320 (GRCm39)	D349G	probably damaging	Het
Fam151a	T	A	4: 106,592,707 (GRCm39)	M63K	probably benign	Het
Fmo9	C	A	1: 166,504,115 (GRCm39)	G149V	probably damaging	Het
Fndc8	A	G	11: 82,789,603 (GRCm39)	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,937,862 (GRCm39)	V365I	probably benign	Het
Frem2	C	T	3: 53,561,916 (GRCm39)	G864S	probably damaging	Het
Fstl5	T	A	3: 76,389,704 (GRCm39)		probably null	Het
Garnl3	T	A	2: 32,924,141 (GRCm39)	E247V	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gorasp1	T	A	9: 119,766,600 (GRCm39)		probably benign	Het
Hcar2	T	C	5: 124,002,541 (GRCm39)	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,190,395 (GRCm39)	M131I	probably damaging	Het
Kif13a	A	G	13: 46,980,221 (GRCm39)	V177A	probably damaging	Het
Limch1	C	T	5: 67,191,545 (GRCm39)	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Lmo7	A	G	14: 102,122,948 (GRCm39)	N379S	probably benign	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,598,711 (GRCm39)	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,755,133 (GRCm39)	Y303H	probably damaging	Het
Mecr	T	G	4: 131,570,986 (GRCm39)	V58G	probably null	Het
Med12l	T	A	3: 58,949,824 (GRCm39)	D193E	possibly damaging	Het
Moap1	T	C	12: 102,709,438 (GRCm39)	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Ndufs5	A	T	4: 123,609,744 (GRCm39)	C43*	probably null	Het
Oaz2	A	T	9: 65,596,183 (GRCm39)	D83V		Het
Or2t29	A	T	11: 58,433,533 (GRCm39)	Y269*	probably null	Het
Or5ac22	T	A	16: 59,135,512 (GRCm39)	N86I	possibly damaging	Het
Palm	A	G	10: 79,652,697 (GRCm39)	T191A	probably damaging	Het
Pclo	C	A	5: 14,725,850 (GRCm39)	D1569E	unknown	Het
Ppid	T	A	3: 79,507,604 (GRCm39)	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,749 (GRCm39)	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,321,619 (GRCm39)	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,161,827 (GRCm39)	T68A	probably benign	Het
Rbm15b	C	T	9: 106,762,246 (GRCm39)	G641R	probably benign	Het
Rgsl1	A	G	1: 153,669,591 (GRCm39)	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837 (GRCm39)	Y98*	probably null	Het
Sfxn3	T	G	19: 45,037,701 (GRCm39)	N52K	probably benign	Het
Slc17a3	G	T	13: 24,030,867 (GRCm39)	G182*	probably null	Het
Slc29a3	A	T	10: 60,586,437 (GRCm39)	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,693,278 (GRCm39)	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,800,435 (GRCm39)	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,259,273 (GRCm39)	S626T	probably benign	Het
Sp5	T	A	2: 70,307,041 (GRCm39)	L242*	probably null	Het
Spata25	C	G	2: 164,669,582 (GRCm39)	G143A	probably damaging	Het
Spata6	T	A	4: 111,625,935 (GRCm39)	Y101*	probably null	Het
Tdp2	T	G	13: 25,016,059 (GRCm39)	S89A	probably benign	Het
Tlr6	T	C	5: 65,110,972 (GRCm39)	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,794 (GRCm39)	I355V	probably benign	Het
Trappc8	A	T	18: 20,985,704 (GRCm39)	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,657,205 (GRCm39)	N399S	probably damaging	Het
Ube4b	A	G	4: 149,427,458 (GRCm39)	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,315,759 (GRCm39)		probably null	Het
Vmn2r1	T	C	3: 64,012,877 (GRCm39)	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,234,113 (GRCm39)	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,811 (GRCm39)	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,953,725 (GRCm39)	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,868,395 (GRCm39)	M442K	possibly damaging	Het
Ydjc	T	C	16: 16,968,762 (GRCm39)	C234R	probably benign	Het
Zfp87	A	G	13: 74,520,467 (GRCm39)	Y204H	possibly damaging	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
IGL01891:Ermp1	APN	19	29,594,002 (GRCm39)	missense	probably benign	0.16
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
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

Predicted Primers

PCR Primer
(F):5'- AATGTTGTCATAGTAGCTCGTGAAG -3'
(R):5'- AAGCACCTTCAGTTCCAGATCTC -3'

Sequencing Primer
(F):5'- CTACGGAGATGCTGTGAA -3'
(R):5'- TTCCAGATCTCAAGAGTTAGAGGTG -3'

Posted On

2019-09-13