Mutagenetix > Incidental Mutation

Incidental Mutation 'R7463:Ermp1'

578595

Institutional Source

Beutler Lab

Gene Symbol

Ermp1

Ensembl Gene

ENSMUSG00000046324

Gene Name

endoplasmic reticulum metallopeptidase 1

Synonyms

D19Ertd410e, D19Wsu12e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29608214-29648415 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 29646262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 109 (Y109*)

Ref Sequence

ENSEMBL: ENSMUSP00000124881 (fasta)

Gene Model

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

AlphaFold

Q3UVK0

Predicted Effect

probably null
Transcript: ENSMUST00000054083
AA Change: Y53*

SMART Domains

Protein: ENSMUSP00000057069
Gene: ENSMUSG00000046324
AA Change: Y53*

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

Predicted Effect

probably null
Transcript: ENSMUST00000159692
AA Change: Y109*

SMART Domains

Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: Y109*

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: 99.9%
10x: 99.4%
20x: 97.7%

Validation Efficiency

100% (62/62)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,323,772	V435E	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adcy2	T	C	13: 68,730,280	D413G	probably damaging	Het
Adgrg6	T	A	10: 14,434,396	D727V	possibly damaging	Het
Aebp2	C	T	6: 140,637,726	Q309*	probably null	Het
Amy1	A	T	3: 113,569,884	C43*	probably null	Het
Bpifc	T	C	10: 85,979,334	E256G	probably benign	Het
Bysl	A	T	17: 47,602,471	S296T	probably benign	Het
Carmil3	C	T	14: 55,502,396	P980L	probably damaging	Het
Coch	T	A	12: 51,593,625	M1K	probably null	Het
Cpt2	A	T	4: 107,908,157	F137I	probably damaging	Het
Crem	T	C	18: 3,295,094	I112V	probably benign	Het
Cul9	A	G	17: 46,520,476		probably null	Het
Cyp3a41a	T	A	5: 145,713,564	I90F	probably damaging	Het
Cyp4f16	C	T	17: 32,550,787	A457V	possibly damaging	Het
Ddx6	A	G	9: 44,628,729	E318G	probably damaging	Het
Dip2b	A	G	15: 100,154,157	E213G	probably benign	Het
Dlx5	T	C	6: 6,878,316	H238R	probably damaging	Het
Dnaic2	A	C	11: 114,754,406	I556L	probably benign	Het
Dnmt1	C	T	9: 20,912,225	V1147M	possibly damaging	Het
Egf	G	T	3: 129,740,015	Q59K	probably benign	Het
Fer1l6	T	A	15: 58,573,601	Y573*	probably null	Het
Fmnl1	T	C	11: 103,193,128	L503P	probably damaging	Het
Gnptab	T	G	10: 88,431,389	I447M	probably damaging	Het
Hgf	G	A	5: 16,578,450	D253N	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,266,277		probably benign	Het
Igf2r	T	C	17: 12,710,645	T958A	probably benign	Het
Kcnd2	T	A	6: 21,216,498	L67Q	probably damaging	Het
Kif5a	A	G	10: 127,243,724	V248A	probably damaging	Het
Krt33b	A	G	11: 100,029,563	I88T	probably damaging	Het
Lhx2	G	A	2: 38,351,846	E25K	possibly damaging	Het
Mex3d	C	T	10: 80,381,698	G562R		Het
Myom2	A	T	8: 15,117,679	Y1088F	probably null	Het
Ncapg	T	A	5: 45,694,092		probably null	Het
Nudc	A	C	4: 133,534,403	V190G	possibly damaging	Het
Obscn	G	T	11: 59,122,860	R1054S	probably benign	Het
Olfr1045	T	C	2: 86,197,838	M305V	probably benign	Het
Olfr1510	A	G	14: 52,410,711	W54R	probably benign	Het
Olfr651	T	C	7: 104,553,482	S188P	possibly damaging	Het
Olfr683	T	A	7: 105,143,937	M119L	probably benign	Het
Olfr710	A	T	7: 106,944,173	V276E	probably damaging	Het
Olfr979	A	G	9: 40,000,564	V221A	probably benign	Het
Pcdh10	A	T	3: 45,383,572	R891S	possibly damaging	Het
Pcdh15	C	T	10: 74,631,770	S1873L	possibly damaging	Het
Pcdh7	A	G	5: 57,720,998	K632E	probably benign	Het
Pcdhgb8	G	A	18: 37,763,427	A517T	probably damaging	Het
Ptgr2	A	T	12: 84,292,298		probably benign	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Racgap1	T	A	15: 99,642,958	T4S	probably benign	Het
Rb1cc1	A	G	1: 6,249,180	H941R	probably benign	Het
Reln	T	C	5: 22,103,435	H312R	probably damaging	Het
Rnf166	T	A	8: 122,467,987	H208L	probably damaging	Het
Theg	T	C	10: 79,576,715	E314G	probably damaging	Het
Timeless	T	C	10: 128,250,426	S999P	probably benign	Het
Tmem94	G	T	11: 115,786,256	R118L	possibly damaging	Het
Tor1aip1	A	T	1: 156,007,609	H349Q	possibly damaging	Het
Ttn	T	A	2: 76,920,460	E3415V	probably benign	Het
Vmn2r102	A	T	17: 19,676,624	N78Y	probably damaging	Het
Wdr11	A	T	7: 129,607,086	D427V	probably damaging	Het
Zer1	A	T	2: 30,113,437		probably benign	Het
Zfp516	T	A	18: 82,957,108	M477K	probably benign	Het

Other mutations in Ermp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01613:Ermp1	APN	19	29639939	missense	probably damaging	1.00
IGL01696:Ermp1	APN	19	29646138	missense	possibly damaging	0.65
IGL01759:Ermp1	APN	19	29615836	missense	probably benign	0.03
IGL01891:Ermp1	APN	19	29616602	missense	probably benign	0.16
IGL02008:Ermp1	APN	19	29612920	missense	probably damaging	1.00
IGL02034:Ermp1	APN	19	29645959	splice site	probably benign
IGL02655:Ermp1	APN	19	29646210	nonsense	probably null
IGL03074:Ermp1	APN	19	29612535	missense	probably damaging	1.00
PIT4366001:Ermp1	UTSW	19	29628789	missense	probably benign	0.24
R0050:Ermp1	UTSW	19	29628784	missense	probably damaging	0.96
R0050:Ermp1	UTSW	19	29628784	missense	probably damaging	0.96
R0096:Ermp1	UTSW	19	29631388	missense	possibly damaging	0.91
R0096:Ermp1	UTSW	19	29631388	missense	possibly damaging	0.91
R0361:Ermp1	UTSW	19	29631406	missense	probably damaging	1.00
R0684:Ermp1	UTSW	19	29632541	splice site	probably benign
R0711:Ermp1	UTSW	19	29631388	missense	possibly damaging	0.91
R1167:Ermp1	UTSW	19	29628679	missense	possibly damaging	0.53
R1869:Ermp1	UTSW	19	29646015	missense	possibly damaging	0.66
R1884:Ermp1	UTSW	19	29616679	missense	probably benign	0.00
R2094:Ermp1	UTSW	19	29639928	missense	probably benign	0.09
R2135:Ermp1	UTSW	19	29646065	missense	possibly damaging	0.81
R2153:Ermp1	UTSW	19	29637398	critical splice acceptor site	probably null
R2290:Ermp1	UTSW	19	29623778	missense	probably damaging	1.00
R4176:Ermp1	UTSW	19	29645965	critical splice donor site	probably null
R4363:Ermp1	UTSW	19	29612876	missense	probably damaging	1.00
R4579:Ermp1	UTSW	19	29616651	missense	probably damaging	0.98
R4761:Ermp1	UTSW	19	29646256	missense	probably benign	0.03
R5801:Ermp1	UTSW	19	29612828	missense	probably damaging	1.00
R5931:Ermp1	UTSW	19	29615729	missense	probably benign	0.01
R6129:Ermp1	UTSW	19	29623209	missense	possibly damaging	0.95
R6556:Ermp1	UTSW	19	29612921	missense	possibly damaging	0.91
R6563:Ermp1	UTSW	19	29623778	missense	probably damaging	1.00
R6598:Ermp1	UTSW	19	29632502	missense	possibly damaging	0.82
R6647:Ermp1	UTSW	19	29626935	missense	probably benign	0.27
R6850:Ermp1	UTSW	19	29616641	missense	probably damaging	1.00
R6912:Ermp1	UTSW	19	29616611	missense	probably benign	0.02
R7341:Ermp1	UTSW	19	29646254	missense	probably benign	0.20
R7391:Ermp1	UTSW	19	29627068	critical splice acceptor site	probably null
R7391:Ermp1	UTSW	19	29627069	critical splice acceptor site	probably null
R7471:Ermp1	UTSW	19	29612654	missense	probably benign	0.06
R7831:Ermp1	UTSW	19	29617967	missense	probably benign	0.00
R7836:Ermp1	UTSW	19	29632388	splice site	probably null
R7923:Ermp1	UTSW	19	29628658	missense	probably benign	0.01
R8113:Ermp1	UTSW	19	29615796	missense	probably benign	0.00
R8116:Ermp1	UTSW	19	29623796	missense	probably damaging	0.98
R8692:Ermp1	UTSW	19	29616693	missense	probably benign	0.04
R9083:Ermp1	UTSW	19	29646015	missense	probably benign	0.00
R9180:Ermp1	UTSW	19	29632445	missense	probably benign	0.34
R9292:Ermp1	UTSW	19	29628649	missense	probably benign	0.01
R9460:Ermp1	UTSW	19	29632516	missense	probably benign	0.03
R9613:Ermp1	UTSW	19	29639856	critical splice donor site	probably null
R9684:Ermp1	UTSW	19	29616706	missense	probably benign	0.45
Z1088:Ermp1	UTSW	19	29612925	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCCAGCTTTACCACGACATTAG -3'
(R):5'- CCAGATCTCAAGAGTTAGAGGTGG -3'

Sequencing Primer
(F):5'- CCAGCTTTACCACGACATTAGTAATG -3'
(R):5'- TGGAAGAGAGGCACAGTGATTTTC -3'

Posted On

2019-10-07