Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Ermp1'

92263

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ermp1

Ensembl Gene

ENSMUSG00000046324

Gene Name

endoplasmic reticulum metallopeptidase 1

Synonyms

D19Ertd410e, D19Wsu12e

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

29608214-29648415 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29639939 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 36 (L36P)

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

probably damaging
Transcript: ENSMUST00000159692
AA Change: L223P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124881
Gene: ENSMUSG00000046324
AA Change: L223P

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: ENSMUST00000160907

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161124

Predicted Effect

probably damaging
Transcript: ENSMUST00000162534
AA Change: L36P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124992
Gene: ENSMUSG00000046324
AA Change: L36P

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Jakmip1	G	T	5: 37,100,768	A253S	probably damaging	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	probably benign	Het

Other mutations in Ermp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7463:Ermp1	UTSW	19	29646262	nonsense	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

Posted On

2013-12-09