Mutagenetix > Incidental Mutation

Incidental Mutation 'R2153:Ermp1'

234579

Institutional Source

Beutler Lab

Gene Symbol

Ermp1

Ensembl Gene

ENSMUSG00000046324

Gene Name

endoplasmic reticulum metallopeptidase 1

Synonyms

D19Wsu12e, D19Ertd410e, b2b2633Clo

MMRRC Submission

040156-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2153 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29587276-29625815 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 29614798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124881 (fasta)

Gene Model

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

probably null
Transcript: ENSMUST00000159692

SMART Domains

Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324

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 null
Transcript: ENSMUST00000159692

SMART Domains

Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324

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

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

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abcg2	T	A	6: 58,661,307 (GRCm39)		probably null	Het
Adgrg7	T	G	16: 56,572,791 (GRCm39)	I342L	possibly damaging	Het
Akap6	A	C	12: 53,188,187 (GRCm39)	D1867A	probably benign	Het
Ankrd17	A	T	5: 90,381,918 (GRCm39)	V2416D	probably damaging	Het
Apaf1	A	G	10: 90,883,952 (GRCm39)	V670A	probably damaging	Het
Art5	A	G	7: 101,747,407 (GRCm39)	L124P	possibly damaging	Het
Atad5	T	A	11: 79,997,203 (GRCm39)	D842E	probably benign	Het
Brd10	T	C	19: 29,694,229 (GRCm39)	M1755V	probably benign	Het
Capns1	A	G	7: 29,891,765 (GRCm39)	L124P	probably damaging	Het
Carmil1	A	G	13: 24,325,656 (GRCm39)	S225P	probably damaging	Het
Cars2	C	T	8: 11,580,299 (GRCm39)	A247T	possibly damaging	Het
Cd46	A	G	1: 194,744,721 (GRCm39)	I339T	probably benign	Het
Ceacam14	C	A	7: 17,548,153 (GRCm39)	T81N	probably benign	Het
Ceacam16	G	A	7: 19,595,066 (GRCm39)	P4L	probably benign	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cntnap5c	A	T	17: 58,362,666 (GRCm39)	I340L	possibly damaging	Het
Col2a1	C	A	15: 97,885,461 (GRCm39)	A461S	unknown	Het
Comtd1	T	C	14: 21,898,340 (GRCm39)	E27G	possibly damaging	Het
Cyp2a12	A	G	7: 26,732,042 (GRCm39)	N261S	probably benign	Het
Dclk1	A	G	3: 55,154,633 (GRCm39)	Y21C	probably damaging	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dlg5	A	T	14: 24,187,225 (GRCm39)	I1819N	probably damaging	Het
Elp1	T	A	4: 56,779,636 (GRCm39)		probably null	Het
Enpep	T	C	3: 129,074,231 (GRCm39)	N772S	probably damaging	Het
Erich1	T	C	8: 14,128,773 (GRCm39)	T56A	probably benign	Het
Etl4	A	G	2: 20,803,545 (GRCm39)	E807G	probably benign	Het
Fat4	A	T	3: 39,037,544 (GRCm39)	Y3732F	probably damaging	Het
Fbxw18	T	G	9: 109,522,438 (GRCm39)	T144P	probably damaging	Het
Flywch1	A	T	17: 23,974,624 (GRCm39)	I672K	probably benign	Het
Foxk2	C	A	11: 121,151,213 (GRCm39)	A86E	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gda	A	G	19: 21,374,869 (GRCm39)		probably null	Het
Gna15	T	C	10: 81,338,738 (GRCm39)	Y367C	probably damaging	Het
Golga3	A	G	5: 110,335,856 (GRCm39)		probably null	Het
Greb1	T	C	12: 16,749,533 (GRCm39)	S1098G	probably damaging	Het
Hook3	C	A	8: 26,560,225 (GRCm39)	L333F	probably damaging	Het
Il6	C	T	5: 30,218,502 (GRCm39)	Q33*	probably null	Het
Iqgap1	T	C	7: 80,401,701 (GRCm39)	E468G	probably benign	Het
Iqgap1	A	G	7: 80,409,651 (GRCm39)	I228T	possibly damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kcnab1	A	T	3: 65,278,861 (GRCm39)	I371F	probably damaging	Het
Kcnj10	A	T	1: 172,197,455 (GRCm39)	Y323F	possibly damaging	Het
Klk1b5	T	C	7: 43,869,322 (GRCm39)		probably null	Het
Lmo7	A	G	14: 102,157,951 (GRCm39)		probably benign	Het
Loxhd1	A	T	18: 77,443,862 (GRCm39)	T277S	possibly damaging	Het
Lrp5	A	T	19: 3,664,339 (GRCm39)	M796K	probably benign	Het
Med15	A	T	16: 17,503,315 (GRCm39)		probably null	Het
Mfn1	T	A	3: 32,596,975 (GRCm39)	H144Q	probably damaging	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Nmi	T	C	2: 51,842,555 (GRCm39)	E179G	probably damaging	Het
Nrxn2	T	C	19: 6,554,944 (GRCm39)	I1141T	probably damaging	Het
Olah	T	C	2: 3,366,306 (GRCm39)	S9G	probably benign	Het
Or1m1	T	C	9: 18,666,391 (GRCm39)	D180G	probably damaging	Het
Or4c106	C	A	2: 88,683,128 (GRCm39)	P278H	probably damaging	Het
Or5b120	T	G	19: 13,479,852 (GRCm39)	I48M	probably damaging	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Or8k22	A	C	2: 86,162,872 (GRCm39)	F276C	probably damaging	Het
Otog	T	A	7: 45,952,328 (GRCm39)	C2591S	probably damaging	Het
Pdgfrb	G	T	18: 61,205,828 (GRCm39)	V605F	probably damaging	Het
Pik3cb	T	A	9: 98,983,297 (GRCm39)	K104*	probably null	Het
Plb1	T	A	5: 32,471,433 (GRCm39)	I580N	probably damaging	Het
Plekha2	T	C	8: 25,578,413 (GRCm39)	Y29C	probably damaging	Het
Plekha7	T	A	7: 115,775,002 (GRCm39)	Y213F	probably damaging	Het
Plin5	T	C	17: 56,423,836 (GRCm39)	D33G	probably benign	Het
Pnpla2	C	A	7: 141,039,132 (GRCm39)	Q371K	probably damaging	Het
Ppm1n	A	G	7: 19,012,110 (GRCm39)	Y348H	probably damaging	Het
Ppp2r1b	T	A	9: 50,777,854 (GRCm39)	D266E	probably damaging	Het
Prss23	A	G	7: 89,159,119 (GRCm39)	S317P	probably damaging	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Pum1	G	T	4: 130,478,802 (GRCm39)	A571S	probably damaging	Het
Rexo1	G	T	10: 80,379,943 (GRCm39)	C13*	probably null	Het
Rhpn1	A	T	15: 75,576,243 (GRCm39)	M1L	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Ripk2	A	G	4: 16,132,775 (GRCm39)		probably null	Het
Rps6kc1	T	C	1: 190,530,920 (GRCm39)	Y937C	probably damaging	Het
Rrbp1	A	G	2: 143,796,118 (GRCm39)	L1200P	possibly damaging	Het
Ryr2	A	G	13: 11,592,759 (GRCm39)	I4665T	possibly damaging	Het
Sbno1	C	A	5: 124,516,606 (GRCm39)	V1256F	probably benign	Het
Senp5	T	C	16: 31,787,692 (GRCm39)	I644V	probably damaging	Het
Serpinb9e	T	A	13: 33,436,961 (GRCm39)	F94I	probably damaging	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc30a5	A	T	13: 100,940,457 (GRCm39)	H619Q	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Sned1	T	A	1: 93,202,379 (GRCm39)	D674E	probably benign	Het
Sorl1	T	C	9: 41,895,788 (GRCm39)	H1789R	probably benign	Het
Sp2	T	C	11: 96,852,834 (GRCm39)	D30G	possibly damaging	Het
Stk33	T	A	7: 108,940,527 (GRCm39)	N61I	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Tbcd	A	G	11: 121,494,457 (GRCm39)	Q1006R	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tnfrsf21	A	G	17: 43,398,763 (GRCm39)	D623G	probably damaging	Het
Trib2	A	G	12: 15,843,830 (GRCm39)	F271L	probably damaging	Het
Ttn	A	G	2: 76,810,477 (GRCm39)	V17A	probably benign	Het
Ubqlnl	A	T	7: 103,797,890 (GRCm39)	C536S	probably benign	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yeats2	T	A	16: 19,972,916 (GRCm39)	D23E	probably damaging	Het
Zan	T	A	5: 137,434,662 (GRCm39)	I2214F	unknown	Het
Zbtb40	T	C	4: 136,718,946 (GRCm39)	D917G	probably damaging	Het
Zcchc2	C	A	1: 105,949,453 (GRCm39)		probably null	Het
Zdhhc23	G	T	16: 43,794,282 (GRCm39)	Q131K	probably benign	Het
Zfp345	T	C	2: 150,314,578 (GRCm39)	T320A	probably benign	Het
Zfp532	A	G	18: 65,757,998 (GRCm39)	T644A	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGCACACATACCATCGTAC -3'
(R):5'- ACCATATGGATTCTCTCGCCTG -3'

Sequencing Primer
(F):5'- TGCCTTAAAATGCAACCTCATTC -3'
(R):5'- CTTGGCAAACTGAACCCA -3'

Posted On

2014-10-01